Mutagenetix > Incidental Mutation

Incidental Mutation 'R0240:Col12a1'

59323

Institutional Source

Beutler Lab

Gene Symbol

Col12a1

Ensembl Gene

ENSMUSG00000032332

Gene Name

collagen, type XII, alpha 1

Synonyms

MMRRC Submission

038478-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.845) question?

Stock #

R0240 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

79506273-79626113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79559315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1858 (S1858T)

Ref Sequence

ENSEMBL: ENSMUSP00000071662 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000071750
AA Change: S1858T

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000071662
Gene: ENSMUSG00000032332
AA Change: S1858T

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 benign
Transcript: ENSMUST00000121227
AA Change: S1858T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112604
Gene: ENSMUSG00000032332
AA Change: S1858T

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

Meta Mutation Damage Score

0.0611

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

100% (112/112)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	C	8: 123,506,920 (GRCm39)	L71P	probably damaging	Het
Adamts2	A	T	11: 50,666,201 (GRCm39)	D399V	probably damaging	Het
Adck2	T	A	6: 39,560,752 (GRCm39)	V380E	probably benign	Het
Alg11	T	A	8: 22,555,468 (GRCm39)	V243D	possibly damaging	Het
Ankrd27	T	A	7: 35,318,864 (GRCm39)	L585Q	probably damaging	Het
Armh4	A	G	14: 50,005,859 (GRCm39)		probably benign	Het
Atp7a	T	A	X: 105,153,447 (GRCm39)	N1117K	probably damaging	Het
Bltp3a	T	A	17: 28,114,844 (GRCm39)		probably benign	Het
Cacna1b	G	A	2: 24,528,669 (GRCm39)		probably benign	Het
Cacna1d	T	A	14: 29,818,926 (GRCm39)	M1210L	probably benign	Het
Cacna1s	T	C	1: 136,001,234 (GRCm39)		probably benign	Het
Chd7	T	C	4: 8,852,670 (GRCm39)		probably benign	Het
Cotl1	C	T	8: 120,567,063 (GRCm39)	W26*	probably null	Het
Csmd3	T	C	15: 47,492,635 (GRCm39)	T3000A	probably benign	Het
Dcp1a	T	A	14: 30,206,551 (GRCm39)		probably benign	Het
Ddhd2	A	T	8: 26,229,617 (GRCm39)		probably null	Het
Dnah8	T	C	17: 30,984,653 (GRCm39)	I3117T	probably damaging	Het
Dnm3	G	T	1: 162,181,194 (GRCm39)	Q162K	probably benign	Het
Dpy19l2	G	T	9: 24,569,876 (GRCm39)	A359D	probably damaging	Het
Ece1	T	A	4: 137,676,746 (GRCm39)		probably benign	Het
Eif4g3	A	G	4: 137,897,873 (GRCm39)	K1025R	probably damaging	Het
Eml2	C	A	7: 18,918,797 (GRCm39)	Y82*	probably null	Het
Eml6	A	G	11: 29,742,367 (GRCm39)	V1057A	possibly damaging	Het
Eral1	A	G	11: 77,966,884 (GRCm39)		probably benign	Het
Espl1	T	C	15: 102,220,976 (GRCm39)	S911P	probably benign	Het
Fbxo8	A	G	8: 57,043,296 (GRCm39)		probably benign	Het
Flrt1	A	T	19: 7,074,475 (GRCm39)		probably benign	Het
Fndc7	A	G	3: 108,766,235 (GRCm39)		probably benign	Het
G3bp1	G	A	11: 55,382,854 (GRCm39)	G139D	probably damaging	Het
Gabra6	C	T	11: 42,205,774 (GRCm39)	V351I	probably benign	Het
Galc	A	T	12: 98,218,293 (GRCm39)	H186Q	probably damaging	Het
Ganab	A	G	19: 8,890,177 (GRCm39)	D702G	possibly damaging	Het
Hdac10	T	C	15: 89,010,085 (GRCm39)	E291G	possibly damaging	Het
Hectd3	T	G	4: 116,859,810 (GRCm39)	V749G	probably damaging	Het
Kash5	C	T	7: 44,849,675 (GRCm39)	A83T	probably benign	Het
Kcnh1	T	A	1: 192,187,648 (GRCm39)	I703N	probably benign	Het
Kcnma1	G	A	14: 23,544,647 (GRCm39)	T505I	probably damaging	Het
Kctd11	A	G	11: 69,770,640 (GRCm39)	C133R	probably damaging	Het
Lama3	A	T	18: 12,672,880 (GRCm39)		probably null	Het
Lamb3	T	C	1: 193,017,335 (GRCm39)	L842P	probably damaging	Het
Ldlr	T	C	9: 21,649,295 (GRCm39)		probably benign	Het
Lipk	G	A	19: 34,024,210 (GRCm39)	R336H	probably benign	Het
Lrrc24	T	A	15: 76,607,409 (GRCm39)	D58V	probably damaging	Het
Lrsam1	A	G	2: 32,845,197 (GRCm39)	L106P	probably damaging	Het
Milr1	G	A	11: 106,645,722 (GRCm39)	W88*	probably null	Het
Mmp10	A	G	9: 7,506,544 (GRCm39)	D340G	probably damaging	Het
Mybpc1	T	A	10: 88,391,600 (GRCm39)	Y285F	possibly damaging	Het
Ncoa3	A	G	2: 165,896,320 (GRCm39)	T408A	probably benign	Het
Nefm	T	A	14: 68,358,583 (GRCm39)	K484*	probably null	Het
Nfasc	A	G	1: 132,529,721 (GRCm39)	S814P	probably damaging	Het
Nlrp4a	T	C	7: 26,161,941 (GRCm39)	V863A	probably benign	Het
Nos1	C	T	5: 118,005,948 (GRCm39)	P223S	probably benign	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Or13c7	T	A	4: 43,854,512 (GRCm39)	S68T	probably damaging	Het
Or4c108	A	T	2: 88,803,740 (GRCm39)	L165Q	probably damaging	Het
Or5an6	A	T	19: 12,372,327 (GRCm39)	E233D	probably benign	Het
Or8k41	A	G	2: 86,313,730 (GRCm39)	S119P	possibly damaging	Het
Osbpl5	T	C	7: 143,295,406 (GRCm39)		probably null	Het
Otog	C	A	7: 45,913,456 (GRCm39)		probably null	Het
Pacs1	A	T	19: 5,206,402 (GRCm39)	I261N	possibly damaging	Het
Pbx1	G	A	1: 168,031,051 (GRCm39)	T189I	possibly damaging	Het
Pcnx1	T	C	12: 81,993,792 (GRCm39)	I908T	possibly damaging	Het
Pdxdc1	A	T	16: 13,697,309 (GRCm39)	W124R	probably damaging	Het
Phex	C	A	X: 155,969,214 (GRCm39)	D587Y	probably damaging	Het
Plcb3	A	T	19: 6,940,363 (GRCm39)	D435E	probably benign	Het
Plce1	A	C	19: 38,717,330 (GRCm39)	K1373T	probably damaging	Het
Prkcd	G	A	14: 30,324,045 (GRCm39)	A311V	probably damaging	Het
Ptpn3	A	T	4: 57,232,374 (GRCm39)	S421T	probably benign	Het
Ptprs	T	C	17: 56,743,087 (GRCm39)		probably null	Het
Qrich1	A	G	9: 108,411,333 (GRCm39)	D286G	probably damaging	Het
Rcc1	C	A	4: 132,060,226 (GRCm39)	G393V	probably damaging	Het
Reln	T	C	5: 22,311,043 (GRCm39)	N290S	probably benign	Het
Rgl1	T	C	1: 152,430,175 (GRCm39)		probably benign	Het
Rhpn1	C	T	15: 75,585,971 (GRCm39)	T628I	probably benign	Het
Rilp	A	G	11: 75,401,747 (GRCm39)	R176G	probably benign	Het
Riok3	C	T	18: 12,288,284 (GRCm39)	A487V	probably benign	Het
Rnf224	T	C	2: 25,126,219 (GRCm39)	T45A	probably damaging	Het
Rpa1	A	G	11: 75,219,513 (GRCm39)	V137A	probably benign	Het
Rps6ka1	C	A	4: 133,575,842 (GRCm39)	Q693H	probably benign	Het
Scn2a	G	T	2: 65,566,118 (GRCm39)	V1381F	probably benign	Het
Scp2	T	A	4: 107,955,275 (GRCm39)	H112L	probably benign	Het
Sdk1	T	C	5: 141,984,502 (GRCm39)	W696R	probably damaging	Het
Slc26a7	C	A	4: 14,532,651 (GRCm39)	V408F	probably damaging	Het
Slc28a2	T	A	2: 122,285,008 (GRCm39)	I332N	probably benign	Het
Slc37a3	A	G	6: 39,314,172 (GRCm39)	V480A	probably benign	Het
Slc45a4	T	A	15: 73,453,755 (GRCm39)	E674D	probably benign	Het
Smpd3	T	C	8: 106,991,788 (GRCm39)	E255G	probably damaging	Het
Snx29	C	T	16: 11,478,417 (GRCm39)	R658W	probably damaging	Het
Sppl2a	A	T	2: 126,762,256 (GRCm39)	M275K	probably benign	Het
Stac	T	C	9: 111,464,089 (GRCm39)	N59S	probably damaging	Het
Stk25	A	T	1: 93,554,782 (GRCm39)	L131Q	probably damaging	Het
Tep1	C	T	14: 51,100,486 (GRCm39)		probably benign	Het
Thbs1	C	A	2: 117,944,874 (GRCm39)	N229K	probably damaging	Het
Tmx2	A	T	2: 84,506,186 (GRCm39)	H89Q	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tradd	T	C	8: 105,985,924 (GRCm39)	N209S	possibly damaging	Het
Trappc3l	A	T	10: 33,974,928 (GRCm39)	R119*	probably null	Het
Trmt1l	G	A	1: 151,333,205 (GRCm39)		probably benign	Het
Ublcp1	G	T	11: 44,349,104 (GRCm39)	Y243*	probably null	Het
Usp24	C	A	4: 106,271,601 (GRCm39)	C2158*	probably null	Het
Usp34	A	T	11: 23,383,206 (GRCm39)	K2088N	probably damaging	Het
Vmn1r53	G	C	6: 90,200,925 (GRCm39)	S133C	probably damaging	Het
Vmn2r52	A	G	7: 9,893,327 (GRCm39)	V604A	probably damaging	Het
Vmn2r93	A	G	17: 18,525,061 (GRCm39)	K240E	probably benign	Het
Wdr13	T	G	X: 7,994,284 (GRCm39)	D242A	probably damaging	Het
Wwp1	C	T	4: 19,641,734 (GRCm39)		probably null	Het
Zan	G	A	5: 137,396,624 (GRCm39)	H4311Y	unknown	Het
Zc3h12c	C	A	9: 52,055,383 (GRCm39)	R123L	possibly damaging	Het
Zfp125	A	T	12: 20,950,562 (GRCm39)		noncoding transcript	Het
Zfp318	C	T	17: 46,707,739 (GRCm39)	P266S	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
R0276:Col12a1	UTSW	9	79,538,023 (GRCm39)	nonsense	probably null
R0309:Col12a1	UTSW	9	79,507,293 (GRCm39)	splice site	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'- ACCACTGTGATGGTGTATGGAGTATCT -3'
(R):5'- TGTACCACAGAAGTGCAAATCTTTTGCT -3'

Sequencing Primer
(F):5'- ggagtaagctcaagggcaag -3'
(R):5'- GCTATGTTCTAGGTGGCTTGAAGA -3'

Posted On

2013-07-11