Mutagenetix > Incidental Mutation

Incidental Mutation 'R0309:Col12a1'

25078

Institutional Source

Beutler Lab

Gene Symbol

Col12a1

Ensembl Gene

ENSMUSG00000032332

Gene Name

collagen, type XII, alpha 1

Synonyms

MMRRC Submission

038519-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R0309 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79506273-79626113 bp(-) (GRCm39)

Type of Mutation

splice site (1748 bp from exon)

DNA Base Change (assembly)

T to A at 79507293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112604 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071750] [ENSMUST00000121227]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000071750

SMART Domains

Protein: ENSMUSP00000071662
Gene: ENSMUSG00000032332

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FN3	25	103	2.29e-10	SMART
low complexity region	114	129	N/A	INTRINSIC
VWA	138	317	4e-63	SMART
FN3	334	413	1.47e-8	SMART
VWA	438	617	2.41e-57	SMART
FN3	632	710	1.62e-10	SMART
FN3	723	801	2.91e-12	SMART
FN3	814	892	6.05e-10	SMART
FN3	905	984	2.74e-8	SMART
FN3	995	1074	1.24e-6	SMART
FN3	1087	1166	5.78e-7	SMART
VWA	1197	1376	2.02e-59	SMART
FN3	1385	1463	1.13e-9	SMART
FN3	1474	1554	1.07e-10	SMART
FN3	1566	1643	3.73e-10	SMART
FN3	1655	1734	2.94e-8	SMART
FN3	1755	1834	1.54e-11	SMART
FN3	1846	1924	1.45e-7	SMART
FN3	1936	2015	1.47e-8	SMART
FN3	2027	2106	1.21e-9	SMART
FN3	2118	2195	2.14e-10	SMART
FN3	2206	2285	3.85e-3	SMART
low complexity region	2292	2314	N/A	INTRINSIC
VWA	2323	2503	2.61e-53	SMART
TSPN	2522	2714	1.13e-76	SMART
Pfam:Collagen	2747	2804	1.7e-8	PFAM
Pfam:Collagen	2802	2855	6.5e-9	PFAM
Pfam:Collagen	2844	2904	1.1e-9	PFAM
Pfam:Collagen	2939	2994	4.6e-8	PFAM
low complexity region	3011	3044	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000121227

SMART Domains

Protein: ENSMUSP00000112604
Gene: ENSMUSG00000032332

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FN3	25	103	2.29e-10	SMART
low complexity region	114	129	N/A	INTRINSIC
VWA	138	317	4e-63	SMART
FN3	334	413	1.47e-8	SMART
VWA	438	617	2.41e-57	SMART
FN3	632	710	1.62e-10	SMART
FN3	723	801	2.91e-12	SMART
FN3	814	892	6.05e-10	SMART
FN3	905	984	2.74e-8	SMART
FN3	995	1074	1.24e-6	SMART
FN3	1087	1166	5.78e-7	SMART
VWA	1197	1376	2.02e-59	SMART
FN3	1385	1463	1.13e-9	SMART
FN3	1474	1554	1.07e-10	SMART
FN3	1566	1643	3.73e-10	SMART
FN3	1655	1734	2.94e-8	SMART
FN3	1755	1834	1.54e-11	SMART
FN3	1846	1924	1.45e-7	SMART
FN3	1936	2015	1.47e-8	SMART
FN3	2027	2106	1.21e-9	SMART
FN3	2118	2195	2.14e-10	SMART
FN3	2206	2285	3.85e-3	SMART
low complexity region	2292	2314	N/A	INTRINSIC
VWA	2323	2503	2.61e-53	SMART
TSPN	2522	2714	1.13e-76	SMART
Pfam:Collagen	2747	2804	4.7e-9	PFAM
Pfam:Collagen	2802	2861	2.9e-9	PFAM
Pfam:Collagen	2838	2900	7.1e-8	PFAM
Pfam:Collagen	2935	2990	1.3e-8	PFAM
low complexity region	3007	3040	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135009

SMART Domains

Protein: ENSMUSP00000123455
Gene: ENSMUSG00000032332

Domain	Start	End	E-Value	Type
Pfam:Collagen	1	56	6.1e-11	PFAM
Pfam:Collagen	40	98	1.4e-11	PFAM
Pfam:Collagen	133	188	9.2e-10	PFAM
low complexity region	205	238	N/A	INTRINSIC

Coding Region Coverage

1x: 98.7%
3x: 97.6%
10x: 94.3%
20x: 86.4%

Validation Efficiency

98% (125/127)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial perinatal lethality, decreased body weight, shorter and slender long bones, altered vertebrae structure, kyphosis, decreased bone strength, and abnormalities in osteoblast differentiation and bone matrix formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	C	2: 35,266,271 (GRCm39)	D133G	possibly damaging	Het
Abcb4	A	C	5: 8,989,835 (GRCm39)	D796A	probably damaging	Het
Actg2	A	T	6: 83,496,896 (GRCm39)	V147E	probably damaging	Het
Adamts13	A	C	2: 26,877,001 (GRCm39)	T534P	probably damaging	Het
Ago1	T	C	4: 126,336,959 (GRCm39)	T249A	probably benign	Het
Ahnak	T	A	19: 8,979,859 (GRCm39)	I381N	probably damaging	Het
Akap9	A	G	5: 4,119,038 (GRCm39)	D3515G	probably benign	Het
Angptl3	T	C	4: 98,922,706 (GRCm39)	V249A	probably benign	Het
Ank	A	G	15: 27,567,658 (GRCm39)	T294A	possibly damaging	Het
Ank1	A	T	8: 23,594,825 (GRCm39)	H204L	probably damaging	Het
Apbb2	A	G	5: 66,468,331 (GRCm39)		probably benign	Het
Arhgap28	A	T	17: 68,208,424 (GRCm39)	S15T	probably benign	Het
Aspm	T	C	1: 139,410,249 (GRCm39)		probably benign	Het
Atp1a4	T	C	1: 172,062,554 (GRCm39)	E651G	probably damaging	Het
B3gnt2	A	T	11: 22,786,860 (GRCm39)	F109L	probably damaging	Het
Bpifb4	T	C	2: 153,801,603 (GRCm39)	F575L	probably damaging	Het
Calhm4	A	G	10: 33,920,043 (GRCm39)	W75R	probably damaging	Het
Calr	C	A	8: 85,569,660 (GRCm39)	K322N	probably benign	Het
Ccdc188	T	C	16: 18,037,169 (GRCm39)	S247P	possibly damaging	Het
Cdr1	T	A	X: 60,228,908 (GRCm39)	D86V	unknown	Het
Cep97	C	T	16: 55,745,421 (GRCm39)	V48I	probably damaging	Het
Chaf1b	T	A	16: 93,681,399 (GRCm39)	C6S	probably damaging	Het
Chd3	C	T	11: 69,247,844 (GRCm39)	D920N	probably damaging	Het
Clk1	T	C	1: 58,452,192 (GRCm39)		probably benign	Het
Cntnap3	T	A	13: 64,905,250 (GRCm39)		probably benign	Het
Col17a1	G	T	19: 47,659,801 (GRCm39)		probably benign	Het
Coq7	T	A	7: 118,128,940 (GRCm39)	I32F	possibly damaging	Het
Cox6a2	A	T	7: 127,805,107 (GRCm39)	F59I	probably damaging	Het
Cpq	A	G	15: 33,594,297 (GRCm39)	D436G	probably damaging	Het
Ctso	G	A	3: 81,852,168 (GRCm39)		probably null	Het
Cxadr	A	T	16: 78,131,836 (GRCm39)	H274L	probably benign	Het
Cyp2c40	A	T	19: 39,766,495 (GRCm39)	C367S	possibly damaging	Het
Cyp2c70	T	G	19: 40,149,115 (GRCm39)	M344L	possibly damaging	Het
Defa35	G	A	8: 21,555,871 (GRCm39)	V77I	probably benign	Het
Dhx57	A	G	17: 80,582,310 (GRCm39)	Y432H	probably damaging	Het
Dhx9	A	T	1: 153,341,441 (GRCm39)	D601E	probably benign	Het
Dnah7a	C	G	1: 53,444,849 (GRCm39)	D3952H	probably damaging	Het
Dnah9	C	A	11: 65,917,798 (GRCm39)		probably benign	Het
Dstyk	C	A	1: 132,384,602 (GRCm39)		probably benign	Het
Efcab2	T	A	1: 178,303,469 (GRCm39)		probably benign	Het
Ehbp1l1	T	C	19: 5,770,598 (GRCm39)	E287G	possibly damaging	Het
Epgn	A	G	5: 91,180,073 (GRCm39)	T87A	probably benign	Het
Erc2	A	C	14: 27,863,182 (GRCm39)	E803A	probably damaging	Het
Fer	A	G	17: 64,446,011 (GRCm39)	*454W	probably null	Het
Glyr1	T	C	16: 4,849,836 (GRCm39)	D179G	probably damaging	Het
Gm12830	T	A	4: 114,702,173 (GRCm39)		probably benign	Het
Gm9922	C	A	14: 101,967,129 (GRCm39)		probably benign	Het
Gsta3	C	T	1: 21,335,118 (GRCm39)	P200S	possibly damaging	Het
Hmgxb3	G	A	18: 61,288,200 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Il16	T	C	7: 83,371,762 (GRCm39)	K15E	probably damaging	Het
Kcnip2	T	A	19: 45,782,514 (GRCm39)		probably benign	Het
Kdm4c	T	C	4: 74,263,804 (GRCm39)	V696A	probably benign	Het
Kdr	A	G	5: 76,107,587 (GRCm39)		probably benign	Het
Klhl33	T	G	14: 51,128,868 (GRCm39)	H787P	probably damaging	Het
Klk14	A	T	7: 43,343,769 (GRCm39)	T159S	probably benign	Het
Lancl2	A	G	6: 57,680,117 (GRCm39)	N16D	probably damaging	Het
Lemd3	T	C	10: 120,773,015 (GRCm39)	N583S	possibly damaging	Het
Map3k4	TGCTGGCTTCAGGGCCACAGTCCGCTG	TGCTG	17: 12,489,902 (GRCm39)		probably null	Het
Mpl	T	G	4: 118,303,235 (GRCm39)		probably benign	Het
Myh7b	T	C	2: 155,472,592 (GRCm39)		probably benign	Het
Mylk	A	C	16: 34,732,667 (GRCm39)		probably benign	Het
Myof	A	T	19: 37,969,714 (GRCm39)	M316K	probably benign	Het
Nfib	T	A	4: 82,214,974 (GRCm39)	N543I	probably damaging	Het
Nfix	A	G	8: 85,448,403 (GRCm39)	S375P	probably damaging	Het
Nkrf	T	C	X: 36,153,769 (GRCm39)	Q171R	probably damaging	Het
Nmnat2	T	A	1: 152,952,747 (GRCm39)		probably benign	Het
Npffr2	G	A	5: 89,731,206 (GRCm39)	E379K	probably benign	Het
Npr2	T	C	4: 43,640,904 (GRCm39)		probably benign	Het
Nup98	A	C	7: 101,801,635 (GRCm39)	D212E	probably null	Het
Nwd2	T	C	5: 63,964,561 (GRCm39)	Y1382H	probably damaging	Het
Ocstamp	T	C	2: 165,237,912 (GRCm39)	R451G	possibly damaging	Het
Or52s1	T	A	7: 102,861,928 (GRCm39)	I287K	probably damaging	Het
Or6c6c	A	G	10: 129,541,008 (GRCm39)	D87G	probably benign	Het
Pabpc1	C	T	15: 36,597,737 (GRCm39)	A551T	possibly damaging	Het
Pard3	A	T	8: 128,103,378 (GRCm39)		probably benign	Het
Pcdhb12	G	T	18: 37,569,174 (GRCm39)	V107L	probably benign	Het
Pik3cd	A	T	4: 149,747,677 (GRCm39)	V22D	probably damaging	Het
Pkd1l2	A	G	8: 117,724,315 (GRCm39)	V2396A	probably damaging	Het
Pnpla7	T	C	2: 24,877,207 (GRCm39)	I167T	probably damaging	Het
Pphln1	A	T	15: 93,339,588 (GRCm39)	H114L	possibly damaging	Het
Ppm1h	A	G	10: 122,756,687 (GRCm39)	N444S	probably damaging	Het
Prdm9	G	A	17: 15,777,646 (GRCm39)	T146I	probably damaging	Het
Prrc2a	A	G	17: 35,369,891 (GRCm39)		probably benign	Het
Prrx1	T	C	1: 163,140,128 (GRCm39)	D26G	possibly damaging	Het
Ptpn5	T	C	7: 46,729,042 (GRCm39)	E495G	probably damaging	Het
Rab23	A	C	1: 33,773,942 (GRCm39)		probably null	Het
Ralgps1	C	T	2: 33,047,935 (GRCm39)	M348I	probably benign	Het
Ranbp2	A	G	10: 58,315,690 (GRCm39)	T2137A	probably benign	Het
Rapgef4	G	T	2: 72,056,374 (GRCm39)	G654V	probably benign	Het
Rc3h2	A	T	2: 37,269,020 (GRCm39)		probably benign	Het
Reg2	G	A	6: 78,383,169 (GRCm39)	A39T	possibly damaging	Het
Sema4d	C	A	13: 51,879,347 (GRCm39)	V7F	probably benign	Het
Sgip1	T	C	4: 102,772,354 (GRCm39)		probably benign	Het
Sgpl1	C	T	10: 60,949,216 (GRCm39)		probably null	Het
Shisa9	G	A	16: 11,814,987 (GRCm39)	V212M	probably damaging	Het
Shq1	G	A	6: 100,550,588 (GRCm39)	P450L	probably benign	Het
Sin3a	A	G	9: 57,018,196 (GRCm39)	T872A	probably benign	Het
Sipa1l3	C	T	7: 29,047,775 (GRCm39)	R1371Q	probably benign	Het
Skint8	T	C	4: 111,796,064 (GRCm39)	V246A	probably benign	Het
Slc22a20	A	T	19: 6,022,985 (GRCm39)	V386D	probably damaging	Het
Slc28a2b	A	T	2: 122,348,034 (GRCm39)	T253S	probably benign	Het
Slc2a7	G	A	4: 150,242,528 (GRCm39)		probably benign	Het
Slc35a2	T	A	X: 7,755,901 (GRCm39)	Y48N	probably damaging	Het
Slc4a2	G	T	5: 24,639,344 (GRCm39)	S413I	probably damaging	Het
Sntg2	T	C	12: 30,276,772 (GRCm39)	T427A	probably benign	Het
Soat1	T	C	1: 156,270,023 (GRCm39)	Y132C	probably damaging	Het
Stn1	G	T	19: 47,490,112 (GRCm39)	H342N	probably benign	Het
Tarbp1	T	A	8: 127,165,667 (GRCm39)		probably benign	Het
Tas2r113	A	C	6: 132,870,341 (GRCm39)	K123T	probably damaging	Het
Tbck	C	T	3: 132,440,168 (GRCm39)	Q504*	probably null	Het
Tenm3	C	T	8: 48,794,069 (GRCm39)	C380Y	probably damaging	Het
Tent4a	A	T	13: 69,648,051 (GRCm39)	V781E	possibly damaging	Het
Triobp	A	G	15: 78,860,740 (GRCm39)	D1389G	probably damaging	Het
Trpm4	A	T	7: 44,958,130 (GRCm39)	F780I	probably damaging	Het
Tubb4a	G	T	17: 57,388,182 (GRCm39)	Y281*	probably null	Het
Txndc15	T	C	13: 55,872,395 (GRCm39)	F261S	probably damaging	Het
Ube3b	T	C	5: 114,557,530 (GRCm39)		probably benign	Het
Unc5c	G	C	3: 141,439,694 (GRCm39)	V196L	probably benign	Het
Upf3a	G	A	8: 13,845,500 (GRCm39)		probably null	Het
Vmn2r20	T	C	6: 123,363,063 (GRCm39)	K574E	probably benign	Het
Vps50	A	G	6: 3,536,853 (GRCm39)	M275V	possibly damaging	Het
Xrcc5	A	G	1: 72,346,735 (GRCm39)		probably benign	Het
Zbtb18	T	C	1: 177,276,182 (GRCm39)	L505S	probably damaging	Het
Zbtb41	T	C	1: 139,366,722 (GRCm39)	I567T	probably damaging	Het
Zfp598	T	C	17: 24,897,558 (GRCm39)		probably benign	Het

Other mutations in Col12a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Col12a1	APN	9	79,588,819 (GRCm39)	missense	possibly damaging	0.55
IGL00434:Col12a1	APN	9	79,560,614 (GRCm39)	missense	probably benign	0.27
IGL00465:Col12a1	APN	9	79,604,863 (GRCm39)	missense	probably damaging	1.00
IGL00568:Col12a1	APN	9	79,558,759 (GRCm39)	missense	probably damaging	1.00
IGL00576:Col12a1	APN	9	79,554,934 (GRCm39)	missense	probably damaging	1.00
IGL00580:Col12a1	APN	9	79,599,508 (GRCm39)	missense	probably benign	0.05
IGL01015:Col12a1	APN	9	79,541,023 (GRCm39)	missense	probably damaging	1.00
IGL01124:Col12a1	APN	9	79,611,129 (GRCm39)	missense	probably damaging	1.00
IGL01138:Col12a1	APN	9	79,585,335 (GRCm39)	missense	probably damaging	1.00
IGL01295:Col12a1	APN	9	79,551,208 (GRCm39)	missense	probably damaging	1.00
IGL01630:Col12a1	APN	9	79,564,648 (GRCm39)	missense	probably damaging	1.00
IGL01648:Col12a1	APN	9	79,508,451 (GRCm39)	makesense	probably null
IGL01878:Col12a1	APN	9	79,557,257 (GRCm39)	missense	possibly damaging	0.72
IGL01921:Col12a1	APN	9	79,557,299 (GRCm39)	missense	possibly damaging	0.50
IGL02064:Col12a1	APN	9	79,599,654 (GRCm39)	missense	probably benign	0.06
IGL02123:Col12a1	APN	9	79,569,740 (GRCm39)	critical splice donor site	probably null
IGL02312:Col12a1	APN	9	79,588,797 (GRCm39)	missense	probably damaging	1.00
IGL02320:Col12a1	APN	9	79,523,303 (GRCm39)	critical splice donor site	probably null
IGL02328:Col12a1	APN	9	79,589,348 (GRCm39)	missense	probably damaging	1.00
IGL02342:Col12a1	APN	9	79,557,178 (GRCm39)	splice site	probably null
IGL02355:Col12a1	APN	9	79,537,993 (GRCm39)	splice site	probably benign
IGL02362:Col12a1	APN	9	79,537,993 (GRCm39)	splice site	probably benign
IGL02396:Col12a1	APN	9	79,569,865 (GRCm39)	missense	probably benign
IGL02449:Col12a1	APN	9	79,548,751 (GRCm39)	missense	probably damaging	1.00
IGL02682:Col12a1	APN	9	79,606,623 (GRCm39)	missense	probably damaging	1.00
IGL02751:Col12a1	APN	9	79,521,141 (GRCm39)	unclassified	probably benign
IGL02801:Col12a1	APN	9	79,515,696 (GRCm39)	splice site	probably null
IGL03001:Col12a1	APN	9	79,540,955 (GRCm39)	missense	probably damaging	1.00
IGL03027:Col12a1	APN	9	79,548,833 (GRCm39)	missense	probably benign	0.40
IGL03090:Col12a1	APN	9	79,585,652 (GRCm39)	missense	probably damaging	1.00
IGL03115:Col12a1	APN	9	79,588,719 (GRCm39)	missense	probably damaging	1.00
IGL03220:Col12a1	APN	9	79,606,765 (GRCm39)	missense	probably damaging	1.00
IGL03240:Col12a1	APN	9	79,585,665 (GRCm39)	splice site	probably null
IGL03348:Col12a1	APN	9	79,600,712 (GRCm39)	missense	possibly damaging	0.88
airship	UTSW	9	79,613,619 (GRCm39)	missense	possibly damaging	0.65
dirigible	UTSW	9	79,611,111 (GRCm39)	missense	possibly damaging	0.73
Feast	UTSW	9	79,607,544 (GRCm39)	missense	probably benign	0.00
hardly	UTSW	9	79,607,632 (GRCm39)	nonsense	probably null
hearty	UTSW	9	79,551,248 (GRCm39)	missense	probably damaging	1.00
Hefty	UTSW	9	79,569,736 (GRCm39)	splice site	probably benign
P0045:Col12a1	UTSW	9	79,554,893 (GRCm39)	missense	probably damaging	0.99
PIT4260001:Col12a1	UTSW	9	79,558,662 (GRCm39)	critical splice donor site	probably null
PIT4280001:Col12a1	UTSW	9	79,585,387 (GRCm39)	missense	probably damaging	1.00
R0015:Col12a1	UTSW	9	79,558,667 (GRCm39)	missense	probably damaging	1.00
R0015:Col12a1	UTSW	9	79,558,667 (GRCm39)	missense	probably damaging	1.00
R0240:Col12a1	UTSW	9	79,559,315 (GRCm39)	missense	probably benign	0.02
R0276:Col12a1	UTSW	9	79,538,023 (GRCm39)	nonsense	probably null
R0336:Col12a1	UTSW	9	79,609,627 (GRCm39)	missense	probably damaging	0.98
R0376:Col12a1	UTSW	9	79,600,776 (GRCm39)	missense	probably benign	0.10
R0413:Col12a1	UTSW	9	79,606,642 (GRCm39)	missense	probably damaging	0.99
R0504:Col12a1	UTSW	9	79,588,750 (GRCm39)	missense	possibly damaging	0.90
R0542:Col12a1	UTSW	9	79,512,610 (GRCm39)	critical splice donor site	probably null
R0610:Col12a1	UTSW	9	79,615,130 (GRCm39)	missense	probably benign
R0631:Col12a1	UTSW	9	79,610,658 (GRCm39)	missense	probably damaging	1.00
R0637:Col12a1	UTSW	9	79,564,017 (GRCm39)	missense	probably benign	0.00
R0667:Col12a1	UTSW	9	79,535,744 (GRCm39)	missense	probably damaging	1.00
R0711:Col12a1	UTSW	9	79,559,317 (GRCm39)	missense	probably damaging	1.00
R0717:Col12a1	UTSW	9	79,519,701 (GRCm39)	missense	probably damaging	1.00
R0762:Col12a1	UTSW	9	79,588,656 (GRCm39)	splice site	probably benign
R0787:Col12a1	UTSW	9	79,545,767 (GRCm39)	missense	probably damaging	0.99
R0890:Col12a1	UTSW	9	79,607,684 (GRCm39)	missense	probably damaging	0.97
R0900:Col12a1	UTSW	9	79,591,535 (GRCm39)	missense	possibly damaging	0.91
R1109:Col12a1	UTSW	9	79,607,005 (GRCm39)	missense	probably damaging	1.00
R1264:Col12a1	UTSW	9	79,527,371 (GRCm39)	missense	probably benign	0.09
R1321:Col12a1	UTSW	9	79,524,991 (GRCm39)	nonsense	probably null
R1344:Col12a1	UTSW	9	79,606,837 (GRCm39)	nonsense	probably null
R1387:Col12a1	UTSW	9	79,588,657 (GRCm39)	splice site	probably benign
R1511:Col12a1	UTSW	9	79,606,834 (GRCm39)	missense	probably benign	0.02
R1523:Col12a1	UTSW	9	79,568,278 (GRCm39)	missense	probably benign	0.01
R1526:Col12a1	UTSW	9	79,564,080 (GRCm39)	missense	probably benign	0.44
R1564:Col12a1	UTSW	9	79,521,122 (GRCm39)	missense	probably damaging	1.00
R1595:Col12a1	UTSW	9	79,509,536 (GRCm39)	missense	probably damaging	1.00
R1603:Col12a1	UTSW	9	79,520,244 (GRCm39)	missense	probably damaging	1.00
R1673:Col12a1	UTSW	9	79,600,820 (GRCm39)	missense	probably benign	0.00
R1730:Col12a1	UTSW	9	79,535,660 (GRCm39)	missense	possibly damaging	0.93
R1737:Col12a1	UTSW	9	79,610,733 (GRCm39)	missense	probably damaging	1.00
R1739:Col12a1	UTSW	9	79,540,750 (GRCm39)	missense	probably damaging	0.98
R1748:Col12a1	UTSW	9	79,580,279 (GRCm39)	missense	probably benign	0.01
R1778:Col12a1	UTSW	9	79,511,867 (GRCm39)	splice site	probably benign
R1845:Col12a1	UTSW	9	79,604,823 (GRCm39)	missense	probably benign	0.09
R1864:Col12a1	UTSW	9	79,534,385 (GRCm39)	splice site	probably null
R1876:Col12a1	UTSW	9	79,585,563 (GRCm39)	nonsense	probably null
R1934:Col12a1	UTSW	9	79,511,804 (GRCm39)	nonsense	probably null
R1942:Col12a1	UTSW	9	79,542,748 (GRCm39)	missense	probably damaging	1.00
R1950:Col12a1	UTSW	9	79,537,831 (GRCm39)	missense	possibly damaging	0.62
R2027:Col12a1	UTSW	9	79,553,075 (GRCm39)	critical splice acceptor site	probably null
R2061:Col12a1	UTSW	9	79,524,987 (GRCm39)	missense	possibly damaging	0.88
R2064:Col12a1	UTSW	9	79,569,736 (GRCm39)	splice site	probably benign
R2070:Col12a1	UTSW	9	79,554,978 (GRCm39)	missense	probably benign	0.00
R2112:Col12a1	UTSW	9	79,551,181 (GRCm39)	missense	possibly damaging	0.93
R2209:Col12a1	UTSW	9	79,599,634 (GRCm39)	missense	possibly damaging	0.83
R2275:Col12a1	UTSW	9	79,542,709 (GRCm39)	missense	probably damaging	0.99
R2330:Col12a1	UTSW	9	79,540,939 (GRCm39)	missense	probably damaging	0.99
R2373:Col12a1	UTSW	9	79,564,095 (GRCm39)	missense	probably benign	0.03
R2425:Col12a1	UTSW	9	79,585,648 (GRCm39)	missense	probably damaging	1.00
R2428:Col12a1	UTSW	9	79,509,533 (GRCm39)	missense	probably benign	0.30
R2437:Col12a1	UTSW	9	79,599,501 (GRCm39)	missense	probably damaging	0.97
R2831:Col12a1	UTSW	9	79,604,683 (GRCm39)	missense	probably null	0.99
R2851:Col12a1	UTSW	9	79,585,614 (GRCm39)	missense	probably damaging	1.00
R2872:Col12a1	UTSW	9	79,606,831 (GRCm39)	missense	probably damaging	1.00
R2872:Col12a1	UTSW	9	79,606,831 (GRCm39)	missense	probably damaging	1.00
R2874:Col12a1	UTSW	9	79,606,831 (GRCm39)	missense	probably damaging	1.00
R2904:Col12a1	UTSW	9	79,559,307 (GRCm39)	missense	probably damaging	1.00
R2905:Col12a1	UTSW	9	79,559,307 (GRCm39)	missense	probably damaging	1.00
R2991:Col12a1	UTSW	9	79,607,547 (GRCm39)	missense	probably damaging	1.00
R3402:Col12a1	UTSW	9	79,551,229 (GRCm39)	missense	probably damaging	1.00
R3429:Col12a1	UTSW	9	79,587,593 (GRCm39)	missense	probably benign
R3430:Col12a1	UTSW	9	79,587,593 (GRCm39)	missense	probably benign
R3547:Col12a1	UTSW	9	79,540,698 (GRCm39)	missense	probably damaging	1.00
R3789:Col12a1	UTSW	9	79,547,005 (GRCm39)	missense	possibly damaging	0.96
R4091:Col12a1	UTSW	9	79,609,646 (GRCm39)	missense	probably damaging	0.99
R4328:Col12a1	UTSW	9	79,607,671 (GRCm39)	missense	possibly damaging	0.91
R4382:Col12a1	UTSW	9	79,538,023 (GRCm39)	nonsense	probably null
R4392:Col12a1	UTSW	9	79,569,770 (GRCm39)	missense	probably damaging	1.00
R4405:Col12a1	UTSW	9	79,547,247 (GRCm39)	critical splice donor site	probably null
R4465:Col12a1	UTSW	9	79,580,192 (GRCm39)	missense	possibly damaging	0.62
R4521:Col12a1	UTSW	9	79,540,639 (GRCm39)	missense	probably benign	0.00
R4612:Col12a1	UTSW	9	79,523,339 (GRCm39)	missense	probably damaging	0.99
R4613:Col12a1	UTSW	9	79,554,883 (GRCm39)	missense	probably benign	0.03
R4649:Col12a1	UTSW	9	79,547,076 (GRCm39)	missense	probably damaging	1.00
R4651:Col12a1	UTSW	9	79,520,228 (GRCm39)	missense	probably damaging	1.00
R4652:Col12a1	UTSW	9	79,520,228 (GRCm39)	missense	probably damaging	1.00
R4738:Col12a1	UTSW	9	79,606,564 (GRCm39)	missense	probably damaging	1.00
R4745:Col12a1	UTSW	9	79,559,368 (GRCm39)	splice site	probably null
R4761:Col12a1	UTSW	9	79,564,592 (GRCm39)	missense	probably benign	0.34
R4784:Col12a1	UTSW	9	79,585,776 (GRCm39)	missense	possibly damaging	0.50
R4785:Col12a1	UTSW	9	79,585,776 (GRCm39)	missense	possibly damaging	0.50
R4809:Col12a1	UTSW	9	79,600,849 (GRCm39)	missense	probably benign	0.10
R4821:Col12a1	UTSW	9	79,622,622 (GRCm39)	intron	probably benign
R4925:Col12a1	UTSW	9	79,582,077 (GRCm39)	missense	probably damaging	1.00
R4938:Col12a1	UTSW	9	79,607,632 (GRCm39)	nonsense	probably null
R5034:Col12a1	UTSW	9	79,564,649 (GRCm39)	missense	probably damaging	1.00
R5133:Col12a1	UTSW	9	79,512,456 (GRCm39)	missense	probably damaging	0.99
R5138:Col12a1	UTSW	9	79,551,248 (GRCm39)	missense	probably damaging	1.00
R5145:Col12a1	UTSW	9	79,613,582 (GRCm39)	missense	probably benign	0.00
R5152:Col12a1	UTSW	9	79,564,030 (GRCm39)	missense	probably damaging	1.00
R5237:Col12a1	UTSW	9	79,607,544 (GRCm39)	missense	probably benign	0.00
R5268:Col12a1	UTSW	9	79,585,329 (GRCm39)	missense	probably damaging	0.99
R5328:Col12a1	UTSW	9	79,527,342 (GRCm39)	missense	probably damaging	0.96
R5372:Col12a1	UTSW	9	79,585,648 (GRCm39)	missense	probably damaging	1.00
R5440:Col12a1	UTSW	9	79,521,645 (GRCm39)	missense	probably benign	0.07
R5496:Col12a1	UTSW	9	79,509,467 (GRCm39)	splice site	probably benign
R5537:Col12a1	UTSW	9	79,606,872 (GRCm39)	missense	probably damaging	1.00
R5596:Col12a1	UTSW	9	79,611,041 (GRCm39)	missense	probably damaging	1.00
R5677:Col12a1	UTSW	9	79,606,603 (GRCm39)	missense	probably damaging	1.00
R5715:Col12a1	UTSW	9	79,523,347 (GRCm39)	nonsense	probably null
R5796:Col12a1	UTSW	9	79,611,111 (GRCm39)	missense	possibly damaging	0.73
R5829:Col12a1	UTSW	9	79,540,955 (GRCm39)	missense	probably damaging	1.00
R5865:Col12a1	UTSW	9	79,511,760 (GRCm39)	missense	probably benign	0.00
R5919:Col12a1	UTSW	9	79,509,580 (GRCm39)	missense	probably damaging	0.99
R5974:Col12a1	UTSW	9	79,589,409 (GRCm39)	missense	probably damaging	0.99
R5981:Col12a1	UTSW	9	79,585,788 (GRCm39)	missense	probably damaging	0.99
R5982:Col12a1	UTSW	9	79,537,842 (GRCm39)	missense	probably damaging	1.00
R6027:Col12a1	UTSW	9	79,563,860 (GRCm39)	critical splice donor site	probably null
R6090:Col12a1	UTSW	9	79,599,675 (GRCm39)	missense	probably damaging	1.00
R6293:Col12a1	UTSW	9	79,521,640 (GRCm39)	missense	probably benign	0.00
R6393:Col12a1	UTSW	9	79,562,767 (GRCm39)	missense	probably damaging	0.99
R6457:Col12a1	UTSW	9	79,552,973 (GRCm39)	missense	probably damaging	1.00
R6505:Col12a1	UTSW	9	79,554,887 (GRCm39)	missense	probably damaging	0.98
R6508:Col12a1	UTSW	9	79,557,231 (GRCm39)	missense	probably damaging	1.00
R6620:Col12a1	UTSW	9	79,527,331 (GRCm39)	missense	probably damaging	0.98
R6718:Col12a1	UTSW	9	79,606,887 (GRCm39)	missense	probably damaging	1.00
R6752:Col12a1	UTSW	9	79,540,706 (GRCm39)	missense	possibly damaging	0.72
R6774:Col12a1	UTSW	9	79,613,619 (GRCm39)	missense	possibly damaging	0.65
R6872:Col12a1	UTSW	9	79,584,516 (GRCm39)	missense	probably damaging	1.00
R6884:Col12a1	UTSW	9	79,547,091 (GRCm39)	missense	possibly damaging	0.92
R6935:Col12a1	UTSW	9	79,607,782 (GRCm39)	missense	possibly damaging	0.76
R7198:Col12a1	UTSW	9	79,557,314 (GRCm39)	missense	possibly damaging	0.56
R7296:Col12a1	UTSW	9	79,589,348 (GRCm39)	missense	probably damaging	1.00
R7365:Col12a1	UTSW	9	79,613,642 (GRCm39)	missense	probably damaging	0.99
R7466:Col12a1	UTSW	9	79,562,689 (GRCm39)	missense	possibly damaging	0.95
R7516:Col12a1	UTSW	9	79,520,192 (GRCm39)	splice site	probably null
R7584:Col12a1	UTSW	9	79,610,578 (GRCm39)	critical splice donor site	probably null
R7624:Col12a1	UTSW	9	79,553,076 (GRCm39)	splice site	probably null
R7670:Col12a1	UTSW	9	79,538,925 (GRCm39)	missense	probably damaging	1.00
R7678:Col12a1	UTSW	9	79,558,768 (GRCm39)	missense	probably damaging	0.99
R7702:Col12a1	UTSW	9	79,588,803 (GRCm39)	missense	probably damaging	1.00
R7796:Col12a1	UTSW	9	79,585,833 (GRCm39)	missense	possibly damaging	0.88
R7902:Col12a1	UTSW	9	79,548,863 (GRCm39)	missense	probably benign	0.00
R7923:Col12a1	UTSW	9	79,585,775 (GRCm39)	missense	probably benign	0.00
R7986:Col12a1	UTSW	9	79,511,674 (GRCm39)	critical splice donor site	probably null
R8004:Col12a1	UTSW	9	79,591,683 (GRCm39)	missense	probably damaging	1.00
R8046:Col12a1	UTSW	9	79,613,508 (GRCm39)	critical splice donor site	probably null
R8056:Col12a1	UTSW	9	79,507,220 (GRCm39)	missense
R8151:Col12a1	UTSW	9	79,537,831 (GRCm39)	missense	possibly damaging	0.62
R8203:Col12a1	UTSW	9	79,588,831 (GRCm39)	missense	possibly damaging	0.94
R8221:Col12a1	UTSW	9	79,551,224 (GRCm39)	missense	probably damaging	1.00
R8294:Col12a1	UTSW	9	79,606,594 (GRCm39)	missense	possibly damaging	0.91
R8309:Col12a1	UTSW	9	79,512,465 (GRCm39)	missense	possibly damaging	0.68
R8319:Col12a1	UTSW	9	79,555,979 (GRCm39)	missense	probably damaging	0.97
R8351:Col12a1	UTSW	9	79,588,694 (GRCm39)	missense	probably damaging	0.97
R8442:Col12a1	UTSW	9	79,542,781 (GRCm39)	missense	probably damaging	1.00
R8500:Col12a1	UTSW	9	79,517,133 (GRCm39)	missense	probably damaging	1.00
R8682:Col12a1	UTSW	9	79,568,358 (GRCm39)	missense	probably benign	0.03
R8700:Col12a1	UTSW	9	79,527,371 (GRCm39)	missense	probably benign	0.09
R8859:Col12a1	UTSW	9	79,587,681 (GRCm39)	nonsense	probably null
R8898:Col12a1	UTSW	9	79,599,577 (GRCm39)	missense	probably benign	0.08
R8930:Col12a1	UTSW	9	79,580,665 (GRCm39)	missense	probably benign
R8932:Col12a1	UTSW	9	79,580,665 (GRCm39)	missense	probably benign
R8949:Col12a1	UTSW	9	79,581,970 (GRCm39)	missense	probably benign	0.17
R8962:Col12a1	UTSW	9	79,538,901 (GRCm39)	missense	probably damaging	1.00
R9045:Col12a1	UTSW	9	79,582,034 (GRCm39)	missense	probably benign	0.00
R9080:Col12a1	UTSW	9	79,517,133 (GRCm39)	missense	probably benign	0.06
R9145:Col12a1	UTSW	9	79,527,344 (GRCm39)	missense	probably benign	0.16
R9163:Col12a1	UTSW	9	79,548,729 (GRCm39)	critical splice donor site	probably null
R9168:Col12a1	UTSW	9	79,548,783 (GRCm39)	nonsense	probably null
R9188:Col12a1	UTSW	9	79,509,614 (GRCm39)	missense	probably benign	0.22
R9258:Col12a1	UTSW	9	79,613,645 (GRCm39)	missense	probably benign	0.04
R9292:Col12a1	UTSW	9	79,585,805 (GRCm39)	missense	probably benign	0.33
R9345:Col12a1	UTSW	9	79,541,017 (GRCm39)	missense	probably benign	0.08
R9382:Col12a1	UTSW	9	79,589,364 (GRCm39)	missense	probably benign	0.23
R9427:Col12a1	UTSW	9	79,589,445 (GRCm39)	missense	probably benign	0.15
R9601:Col12a1	UTSW	9	79,525,034 (GRCm39)	missense	probably damaging	0.98
R9653:Col12a1	UTSW	9	79,584,556 (GRCm39)	missense	probably benign
R9668:Col12a1	UTSW	9	79,546,960 (GRCm39)	nonsense	probably null
R9762:Col12a1	UTSW	9	79,527,266 (GRCm39)	missense	possibly damaging	0.82
X0021:Col12a1	UTSW	9	79,515,767 (GRCm39)	missense	probably damaging	1.00
X0058:Col12a1	UTSW	9	79,509,506 (GRCm39)	missense	possibly damaging	0.66
X0061:Col12a1	UTSW	9	79,519,674 (GRCm39)	splice site	probably null
Z1177:Col12a1	UTSW	9	79,507,268 (GRCm39)	missense	possibly damaging	0.80
Z1177:Col12a1	UTSW	9	79,546,978 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGATTGAGAATCCCAGCACCTCCC -3'
(R):5'- TGGTCACCAAATTCACTCTGCACAC -3'

Sequencing Primer
(F):5'- CAGTGAACCCGTGATTTCAG -3'
(R):5'- TTGGAACACCGCAATGCA -3'

Posted On

2013-04-16