Mutagenetix > Incidental Mutation

Incidental Mutation 'R4809:Col12a1'

370911

Institutional Source

Beutler Lab

Gene Symbol

Col12a1

Ensembl Gene

ENSMUSG00000032332

Gene Name

collagen, type XII, alpha 1

Synonyms

MMRRC Submission

042428-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.845) question?

Stock #

R4809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79598991-79718831 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79693567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 745 (Q745L)

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
AA Change: Q745L

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000071662
Gene: ENSMUSG00000032332
AA Change: Q745L

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: Q745L

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112604
Gene: ENSMUSG00000032332
AA Change: Q745L

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

noncoding transcript
Transcript: ENSMUST00000123894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150289

Meta Mutation Damage Score

0.1123

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (96/100)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,662,631 (GRCm38)	V459A	probably benign	Het
Abca12	C	T	1: 71,278,856 (GRCm38)	A1840T	probably benign	Het
Abhd6	T	G	14: 8,039,771 (GRCm38)	M1R	probably null	Het
Abl1	T	C	2: 31,800,242 (GRCm38)	L572P	probably damaging	Het
Adamts2	C	A	11: 50,803,690 (GRCm38)	S1101R	probably benign	Het
Adgra2	G	A	8: 27,110,479 (GRCm38)	W200*	probably null	Het
AI661453	C	A	17: 47,467,187 (GRCm38)		probably benign	Het
Aldh1l2	A	G	10: 83,506,632 (GRCm38)	F438S	probably damaging	Het
Ankrd49	G	A	9: 14,781,214 (GRCm38)	T218I	possibly damaging	Het
Ano7	T	C	1: 93,394,566 (GRCm38)	F410L	probably benign	Het
Aox4	T	A	1: 58,266,649 (GRCm38)	F1271I	probably damaging	Het
Aqr	T	C	2: 114,175,214 (GRCm38)		probably benign	Het
Arhgap42	A	G	9: 9,180,117 (GRCm38)	S54P	probably damaging	Het
Aunip	C	A	4: 134,511,139 (GRCm38)	D16E	possibly damaging	Het
Btbd7	A	G	12: 102,793,744 (GRCm38)		probably null	Het
Cabp4	T	C	19: 4,139,291 (GRCm38)	H89R	probably benign	Het
Ccni	AAA	AAACTAA	5: 93,187,570 (GRCm38)		probably benign	Het
Chfr	C	T	5: 110,158,834 (GRCm38)	H410Y	probably damaging	Het
Churc1	C	A	12: 76,782,897 (GRCm38)	L111M	probably damaging	Het
Clasp1	C	T	1: 118,461,250 (GRCm38)	T113I	probably benign	Het
Col20a1	T	C	2: 180,998,661 (GRCm38)	L537P	probably damaging	Het
Creb5	A	T	6: 53,610,426 (GRCm38)	E47V	probably null	Het
Csnk1d	A	T	11: 120,963,842 (GRCm38)		probably benign	Het
Cts6	A	T	13: 61,202,181 (GRCm38)	W29R	probably damaging	Het
Dbt	T	A	3: 116,546,343 (GRCm38)	I420N	probably damaging	Het
Det1	C	A	7: 78,843,807 (GRCm38)	D150Y	probably damaging	Het
Dlk2	A	G	17: 46,299,014 (GRCm38)		probably null	Het
Dnmt3a	A	T	12: 3,900,352 (GRCm38)	I639F	probably damaging	Het
Dock9	A	T	14: 121,546,596 (GRCm38)	Y1989N	probably benign	Het
Dsg4	A	T	18: 20,466,621 (GRCm38)	T765S	possibly damaging	Het
Entrep2	G	A	7: 64,776,740 (GRCm38)	T159I	probably damaging	Het
Epha5	C	T	5: 84,105,891 (GRCm38)	D548N	possibly damaging	Het
Fam227b	T	A	2: 126,116,125 (GRCm38)	Y240F	possibly damaging	Het
Fbxw21	C	T	9: 109,143,390 (GRCm38)	V395I	probably damaging	Het
Fn1	C	A	1: 71,652,800 (GRCm38)		probably benign	Het
Fpr-rs3	A	T	17: 20,624,421 (GRCm38)	S153T	probably benign	Het
Frem2	A	G	3: 53,653,895 (GRCm38)	F1064L	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958 (GRCm38)		probably benign	Het
Gjd2	C	T	2: 114,011,541 (GRCm38)	G152R	probably damaging	Het
Gpr75	T	C	11: 30,892,154 (GRCm38)	I353T	possibly damaging	Het
Grb7	T	C	11: 98,451,436 (GRCm38)	V145A	possibly damaging	Het
Igkv4-73	G	A	6: 69,197,823 (GRCm38)	R40W	unknown	Het
Kif1c	C	T	11: 70,726,357 (GRCm38)	A839V	probably benign	Het
Krt31	G	A	11: 100,049,922 (GRCm38)	A125V	possibly damaging	Het
Lamb1	A	G	12: 31,278,526 (GRCm38)	Y163C	probably damaging	Het
Mars1	G	T	10: 127,300,215 (GRCm38)	T535K	probably damaging	Het
Mdc1	T	C	17: 35,849,101 (GRCm38)		probably null	Het
Micos10	C	G	4: 139,130,957 (GRCm38)	W10S	probably damaging	Het
Micu1	C	T	10: 59,740,822 (GRCm38)	H167Y	probably benign	Het
Mrgprb1	C	T	7: 48,447,991 (GRCm38)	V58I	possibly damaging	Het
Ncoa7	T	A	10: 30,771,762 (GRCm38)	E6V	possibly damaging	Het
Nectin3	A	C	16: 46,448,160 (GRCm38)		probably benign	Het
Or13a18	A	G	7: 140,611,074 (GRCm38)	K295E	probably damaging	Het
Or4k44	C	T	2: 111,537,611 (GRCm38)	C226Y	probably benign	Het
Or52ab7	T	A	7: 103,328,523 (GRCm38)	Y12*	probably null	Het
Or8k38	T	A	2: 86,657,685 (GRCm38)	M258L	possibly damaging	Het
Pex16	T	C	2: 92,376,638 (GRCm38)	S54P	probably damaging	Het
Pik3cg	A	T	12: 32,204,081 (GRCm38)	S636T	possibly damaging	Het
Plin5	A	G	17: 56,116,855 (GRCm38)	S27P	probably benign	Het
Ptch1	A	T	13: 63,513,708 (GRCm38)	D1068E	probably damaging	Het
Ptprq	T	C	10: 107,563,175 (GRCm38)	T1960A	probably damaging	Het
Rap1gap2	T	C	11: 74,407,974 (GRCm38)		probably benign	Het
Rcc2	G	A	4: 140,717,042 (GRCm38)	R348Q	probably damaging	Het
Rhbdd3	C	A	11: 5,105,949 (GRCm38)	A377D	probably damaging	Het
Rpl7	T	G	1: 16,101,965 (GRCm38)		probably benign	Het
Scn11a	G	T	9: 119,819,870 (GRCm38)	D42E	probably benign	Het
Scube3	C	T	17: 28,165,173 (GRCm38)	R549W	probably damaging	Het
Sil1	A	T	18: 35,325,375 (GRCm38)	M189K	probably damaging	Het
Slc39a6	G	A	18: 24,585,474 (GRCm38)	Q225*	probably null	Het
Slc7a15	A	T	12: 8,539,002 (GRCm38)	C182S	probably benign	Het
Spata21	G	A	4: 141,097,120 (GRCm38)		probably null	Het
Stim2	T	C	5: 54,110,613 (GRCm38)	V417A	probably damaging	Het
Szt2	T	C	4: 118,388,985 (GRCm38)	D993G	probably damaging	Het
Tet3	A	G	6: 83,402,946 (GRCm38)	S747P	probably benign	Het
Tmem86a	C	G	7: 47,052,930 (GRCm38)	S34R	possibly damaging	Het
Top2b	T	A	14: 16,383,125 (GRCm38)	S38T	probably benign	Het
Trim33	A	T	3: 103,329,256 (GRCm38)	T561S	possibly damaging	Het
Ttc39a	C	T	4: 109,416,021 (GRCm38)	Q25*	probably null	Het
Urb1	A	G	16: 90,759,842 (GRCm38)	I1816T	possibly damaging	Het
Usp24	T	C	4: 106,413,676 (GRCm38)		probably null	Het
Usp36	A	C	11: 118,263,070 (GRCm38)	L840R	probably damaging	Het
Usp50	C	A	2: 126,777,853 (GRCm38)		probably benign	Het
Vangl2	A	G	1: 172,009,663 (GRCm38)	V193A	possibly damaging	Het
Vmn1r62	T	A	7: 5,675,867 (GRCm38)	H182Q	probably benign	Het
Vmn2r124	A	T	17: 18,073,745 (GRCm38)	Y698F	probably benign	Het
Wls	C	T	3: 159,897,445 (GRCm38)	T165I	probably benign	Het
Zfp808	G	T	13: 62,171,292 (GRCm38)	E112*	probably null	Het

Other mutations in Col12a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Col12a1	APN	9	79,681,537 (GRCm38)	missense	possibly damaging	0.55
IGL00434:Col12a1	APN	9	79,653,332 (GRCm38)	missense	probably benign	0.27
IGL00465:Col12a1	APN	9	79,697,581 (GRCm38)	missense	probably damaging	1.00
IGL00568:Col12a1	APN	9	79,651,477 (GRCm38)	missense	probably damaging	1.00
IGL00576:Col12a1	APN	9	79,647,652 (GRCm38)	missense	probably damaging	1.00
IGL00580:Col12a1	APN	9	79,692,226 (GRCm38)	missense	probably benign	0.05
IGL01015:Col12a1	APN	9	79,633,741 (GRCm38)	missense	probably damaging	1.00
IGL01124:Col12a1	APN	9	79,703,847 (GRCm38)	missense	probably damaging	1.00
IGL01138:Col12a1	APN	9	79,678,053 (GRCm38)	missense	probably damaging	1.00
IGL01295:Col12a1	APN	9	79,643,926 (GRCm38)	missense	probably damaging	1.00
IGL01630:Col12a1	APN	9	79,657,366 (GRCm38)	missense	probably damaging	1.00
IGL01648:Col12a1	APN	9	79,601,169 (GRCm38)	makesense	probably null
IGL01878:Col12a1	APN	9	79,649,975 (GRCm38)	missense	possibly damaging	0.72
IGL01921:Col12a1	APN	9	79,650,017 (GRCm38)	missense	possibly damaging	0.50
IGL02064:Col12a1	APN	9	79,692,372 (GRCm38)	missense	probably benign	0.06
IGL02123:Col12a1	APN	9	79,662,458 (GRCm38)	critical splice donor site	probably null
IGL02312:Col12a1	APN	9	79,681,515 (GRCm38)	missense	probably damaging	1.00
IGL02320:Col12a1	APN	9	79,616,021 (GRCm38)	critical splice donor site	probably null
IGL02328:Col12a1	APN	9	79,682,066 (GRCm38)	missense	probably damaging	1.00
IGL02342:Col12a1	APN	9	79,649,896 (GRCm38)	splice site	probably null
IGL02355:Col12a1	APN	9	79,630,711 (GRCm38)	splice site	probably benign
IGL02362:Col12a1	APN	9	79,630,711 (GRCm38)	splice site	probably benign
IGL02396:Col12a1	APN	9	79,662,583 (GRCm38)	missense	probably benign
IGL02449:Col12a1	APN	9	79,641,469 (GRCm38)	missense	probably damaging	1.00
IGL02682:Col12a1	APN	9	79,699,341 (GRCm38)	missense	probably damaging	1.00
IGL02751:Col12a1	APN	9	79,613,859 (GRCm38)	unclassified	probably benign
IGL02801:Col12a1	APN	9	79,608,414 (GRCm38)	splice site	probably null
IGL03001:Col12a1	APN	9	79,633,673 (GRCm38)	missense	probably damaging	1.00
IGL03027:Col12a1	APN	9	79,641,551 (GRCm38)	missense	probably benign	0.40
IGL03090:Col12a1	APN	9	79,678,370 (GRCm38)	missense	probably damaging	1.00
IGL03115:Col12a1	APN	9	79,681,437 (GRCm38)	missense	probably damaging	1.00
IGL03220:Col12a1	APN	9	79,699,483 (GRCm38)	missense	probably damaging	1.00
IGL03240:Col12a1	APN	9	79,678,383 (GRCm38)	splice site	probably null
IGL03348:Col12a1	APN	9	79,693,430 (GRCm38)	missense	possibly damaging	0.88
airship	UTSW	9	79,706,337 (GRCm38)	missense	possibly damaging	0.65
dirigible	UTSW	9	79,703,829 (GRCm38)	missense	possibly damaging	0.73
Feast	UTSW	9	79,700,262 (GRCm38)	missense	probably benign	0.00
hardly	UTSW	9	79,700,350 (GRCm38)	nonsense	probably null
hearty	UTSW	9	79,643,966 (GRCm38)	missense	probably damaging	1.00
Hefty	UTSW	9	79,662,454 (GRCm38)	splice site	probably benign
P0045:Col12a1	UTSW	9	79,647,611 (GRCm38)	missense	probably damaging	0.99
PIT4260001:Col12a1	UTSW	9	79,651,380 (GRCm38)	critical splice donor site	probably null
PIT4280001:Col12a1	UTSW	9	79,678,105 (GRCm38)	missense	probably damaging	1.00
R0015:Col12a1	UTSW	9	79,651,385 (GRCm38)	missense	probably damaging	1.00
R0015:Col12a1	UTSW	9	79,651,385 (GRCm38)	missense	probably damaging	1.00
R0240:Col12a1	UTSW	9	79,652,033 (GRCm38)	missense	probably benign	0.02
R0276:Col12a1	UTSW	9	79,630,741 (GRCm38)	nonsense	probably null
R0309:Col12a1	UTSW	9	79,600,011 (GRCm38)	splice site	probably null
R0336:Col12a1	UTSW	9	79,702,345 (GRCm38)	missense	probably damaging	0.98
R0376:Col12a1	UTSW	9	79,693,494 (GRCm38)	missense	probably benign	0.10
R0413:Col12a1	UTSW	9	79,699,360 (GRCm38)	missense	probably damaging	0.99
R0504:Col12a1	UTSW	9	79,681,468 (GRCm38)	missense	possibly damaging	0.90
R0542:Col12a1	UTSW	9	79,605,328 (GRCm38)	critical splice donor site	probably null
R0610:Col12a1	UTSW	9	79,707,848 (GRCm38)	missense	probably benign
R0631:Col12a1	UTSW	9	79,703,376 (GRCm38)	missense	probably damaging	1.00
R0637:Col12a1	UTSW	9	79,656,735 (GRCm38)	missense	probably benign	0.00
R0667:Col12a1	UTSW	9	79,628,462 (GRCm38)	missense	probably damaging	1.00
R0711:Col12a1	UTSW	9	79,652,035 (GRCm38)	missense	probably damaging	1.00
R0717:Col12a1	UTSW	9	79,612,419 (GRCm38)	missense	probably damaging	1.00
R0762:Col12a1	UTSW	9	79,681,374 (GRCm38)	splice site	probably benign
R0787:Col12a1	UTSW	9	79,638,485 (GRCm38)	missense	probably damaging	0.99
R0890:Col12a1	UTSW	9	79,700,402 (GRCm38)	missense	probably damaging	0.97
R0900:Col12a1	UTSW	9	79,684,253 (GRCm38)	missense	possibly damaging	0.91
R1109:Col12a1	UTSW	9	79,699,723 (GRCm38)	missense	probably damaging	1.00
R1264:Col12a1	UTSW	9	79,620,089 (GRCm38)	missense	probably benign	0.09
R1321:Col12a1	UTSW	9	79,617,709 (GRCm38)	nonsense	probably null
R1344:Col12a1	UTSW	9	79,699,555 (GRCm38)	nonsense	probably null
R1387:Col12a1	UTSW	9	79,681,375 (GRCm38)	splice site	probably benign
R1511:Col12a1	UTSW	9	79,699,552 (GRCm38)	missense	probably benign	0.02
R1523:Col12a1	UTSW	9	79,660,996 (GRCm38)	missense	probably benign	0.01
R1526:Col12a1	UTSW	9	79,656,798 (GRCm38)	missense	probably benign	0.44
R1564:Col12a1	UTSW	9	79,613,840 (GRCm38)	missense	probably damaging	1.00
R1595:Col12a1	UTSW	9	79,602,254 (GRCm38)	missense	probably damaging	1.00
R1603:Col12a1	UTSW	9	79,612,962 (GRCm38)	missense	probably damaging	1.00
R1673:Col12a1	UTSW	9	79,693,538 (GRCm38)	missense	probably benign	0.00
R1730:Col12a1	UTSW	9	79,628,378 (GRCm38)	missense	possibly damaging	0.93
R1737:Col12a1	UTSW	9	79,703,451 (GRCm38)	missense	probably damaging	1.00
R1739:Col12a1	UTSW	9	79,633,468 (GRCm38)	missense	probably damaging	0.98
R1748:Col12a1	UTSW	9	79,672,997 (GRCm38)	missense	probably benign	0.01
R1778:Col12a1	UTSW	9	79,604,585 (GRCm38)	splice site	probably benign
R1845:Col12a1	UTSW	9	79,697,541 (GRCm38)	missense	probably benign	0.09
R1864:Col12a1	UTSW	9	79,627,103 (GRCm38)	splice site	probably null
R1876:Col12a1	UTSW	9	79,678,281 (GRCm38)	nonsense	probably null
R1934:Col12a1	UTSW	9	79,604,522 (GRCm38)	nonsense	probably null
R1942:Col12a1	UTSW	9	79,635,466 (GRCm38)	missense	probably damaging	1.00
R1950:Col12a1	UTSW	9	79,630,549 (GRCm38)	missense	possibly damaging	0.62
R2027:Col12a1	UTSW	9	79,645,793 (GRCm38)	critical splice acceptor site	probably null
R2061:Col12a1	UTSW	9	79,617,705 (GRCm38)	missense	possibly damaging	0.88
R2064:Col12a1	UTSW	9	79,662,454 (GRCm38)	splice site	probably benign
R2070:Col12a1	UTSW	9	79,647,696 (GRCm38)	missense	probably benign	0.00
R2112:Col12a1	UTSW	9	79,643,899 (GRCm38)	missense	possibly damaging	0.93
R2209:Col12a1	UTSW	9	79,692,352 (GRCm38)	missense	possibly damaging	0.83
R2275:Col12a1	UTSW	9	79,635,427 (GRCm38)	missense	probably damaging	0.99
R2330:Col12a1	UTSW	9	79,633,657 (GRCm38)	missense	probably damaging	0.99
R2373:Col12a1	UTSW	9	79,656,813 (GRCm38)	missense	probably benign	0.03
R2425:Col12a1	UTSW	9	79,678,366 (GRCm38)	missense	probably damaging	1.00
R2428:Col12a1	UTSW	9	79,602,251 (GRCm38)	missense	probably benign	0.30
R2437:Col12a1	UTSW	9	79,692,219 (GRCm38)	missense	probably damaging	0.97
R2831:Col12a1	UTSW	9	79,697,401 (GRCm38)	missense	probably null	0.99
R2851:Col12a1	UTSW	9	79,678,332 (GRCm38)	missense	probably damaging	1.00
R2872:Col12a1	UTSW	9	79,699,549 (GRCm38)	missense	probably damaging	1.00
R2872:Col12a1	UTSW	9	79,699,549 (GRCm38)	missense	probably damaging	1.00
R2874:Col12a1	UTSW	9	79,699,549 (GRCm38)	missense	probably damaging	1.00
R2904:Col12a1	UTSW	9	79,652,025 (GRCm38)	missense	probably damaging	1.00
R2905:Col12a1	UTSW	9	79,652,025 (GRCm38)	missense	probably damaging	1.00
R2991:Col12a1	UTSW	9	79,700,265 (GRCm38)	missense	probably damaging	1.00
R3402:Col12a1	UTSW	9	79,643,947 (GRCm38)	missense	probably damaging	1.00
R3429:Col12a1	UTSW	9	79,680,311 (GRCm38)	missense	probably benign
R3430:Col12a1	UTSW	9	79,680,311 (GRCm38)	missense	probably benign
R3547:Col12a1	UTSW	9	79,633,416 (GRCm38)	missense	probably damaging	1.00
R3789:Col12a1	UTSW	9	79,639,723 (GRCm38)	missense	possibly damaging	0.96
R4091:Col12a1	UTSW	9	79,702,364 (GRCm38)	missense	probably damaging	0.99
R4328:Col12a1	UTSW	9	79,700,389 (GRCm38)	missense	possibly damaging	0.91
R4382:Col12a1	UTSW	9	79,630,741 (GRCm38)	nonsense	probably null
R4392:Col12a1	UTSW	9	79,662,488 (GRCm38)	missense	probably damaging	1.00
R4405:Col12a1	UTSW	9	79,639,965 (GRCm38)	critical splice donor site	probably null
R4465:Col12a1	UTSW	9	79,672,910 (GRCm38)	missense	possibly damaging	0.62
R4521:Col12a1	UTSW	9	79,633,357 (GRCm38)	missense	probably benign	0.00
R4612:Col12a1	UTSW	9	79,616,057 (GRCm38)	missense	probably damaging	0.99
R4613:Col12a1	UTSW	9	79,647,601 (GRCm38)	missense	probably benign	0.03
R4649:Col12a1	UTSW	9	79,639,794 (GRCm38)	missense	probably damaging	1.00
R4651:Col12a1	UTSW	9	79,612,946 (GRCm38)	missense	probably damaging	1.00
R4652:Col12a1	UTSW	9	79,612,946 (GRCm38)	missense	probably damaging	1.00
R4738:Col12a1	UTSW	9	79,699,282 (GRCm38)	missense	probably damaging	1.00
R4745:Col12a1	UTSW	9	79,652,086 (GRCm38)	splice site	probably null
R4761:Col12a1	UTSW	9	79,657,310 (GRCm38)	missense	probably benign	0.34
R4784:Col12a1	UTSW	9	79,678,494 (GRCm38)	missense	possibly damaging	0.50
R4785:Col12a1	UTSW	9	79,678,494 (GRCm38)	missense	possibly damaging	0.50
R4821:Col12a1	UTSW	9	79,715,340 (GRCm38)	intron	probably benign
R4925:Col12a1	UTSW	9	79,674,795 (GRCm38)	missense	probably damaging	1.00
R4938:Col12a1	UTSW	9	79,700,350 (GRCm38)	nonsense	probably null
R5034:Col12a1	UTSW	9	79,657,367 (GRCm38)	missense	probably damaging	1.00
R5133:Col12a1	UTSW	9	79,605,174 (GRCm38)	missense	probably damaging	0.99
R5138:Col12a1	UTSW	9	79,643,966 (GRCm38)	missense	probably damaging	1.00
R5145:Col12a1	UTSW	9	79,706,300 (GRCm38)	missense	probably benign	0.00
R5152:Col12a1	UTSW	9	79,656,748 (GRCm38)	missense	probably damaging	1.00
R5237:Col12a1	UTSW	9	79,700,262 (GRCm38)	missense	probably benign	0.00
R5268:Col12a1	UTSW	9	79,678,047 (GRCm38)	missense	probably damaging	0.99
R5328:Col12a1	UTSW	9	79,620,060 (GRCm38)	missense	probably damaging	0.96
R5372:Col12a1	UTSW	9	79,678,366 (GRCm38)	missense	probably damaging	1.00
R5440:Col12a1	UTSW	9	79,614,363 (GRCm38)	missense	probably benign	0.07
R5496:Col12a1	UTSW	9	79,602,185 (GRCm38)	splice site	probably benign
R5537:Col12a1	UTSW	9	79,699,590 (GRCm38)	missense	probably damaging	1.00
R5596:Col12a1	UTSW	9	79,703,759 (GRCm38)	missense	probably damaging	1.00
R5677:Col12a1	UTSW	9	79,699,321 (GRCm38)	missense	probably damaging	1.00
R5715:Col12a1	UTSW	9	79,616,065 (GRCm38)	nonsense	probably null
R5796:Col12a1	UTSW	9	79,703,829 (GRCm38)	missense	possibly damaging	0.73
R5829:Col12a1	UTSW	9	79,633,673 (GRCm38)	missense	probably damaging	1.00
R5865:Col12a1	UTSW	9	79,604,478 (GRCm38)	missense	probably benign	0.00
R5919:Col12a1	UTSW	9	79,602,298 (GRCm38)	missense	probably damaging	0.99
R5974:Col12a1	UTSW	9	79,682,127 (GRCm38)	missense	probably damaging	0.99
R5981:Col12a1	UTSW	9	79,678,506 (GRCm38)	missense	probably damaging	0.99
R5982:Col12a1	UTSW	9	79,630,560 (GRCm38)	missense	probably damaging	1.00
R6027:Col12a1	UTSW	9	79,656,578 (GRCm38)	critical splice donor site	probably null
R6090:Col12a1	UTSW	9	79,692,393 (GRCm38)	missense	probably damaging	1.00
R6293:Col12a1	UTSW	9	79,614,358 (GRCm38)	missense	probably benign	0.00
R6393:Col12a1	UTSW	9	79,655,485 (GRCm38)	missense	probably damaging	0.99
R6457:Col12a1	UTSW	9	79,645,691 (GRCm38)	missense	probably damaging	1.00
R6505:Col12a1	UTSW	9	79,647,605 (GRCm38)	missense	probably damaging	0.98
R6508:Col12a1	UTSW	9	79,649,949 (GRCm38)	missense	probably damaging	1.00
R6620:Col12a1	UTSW	9	79,620,049 (GRCm38)	missense	probably damaging	0.98
R6718:Col12a1	UTSW	9	79,699,605 (GRCm38)	missense	probably damaging	1.00
R6752:Col12a1	UTSW	9	79,633,424 (GRCm38)	missense	possibly damaging	0.72
R6774:Col12a1	UTSW	9	79,706,337 (GRCm38)	missense	possibly damaging	0.65
R6872:Col12a1	UTSW	9	79,677,234 (GRCm38)	missense	probably damaging	1.00
R6884:Col12a1	UTSW	9	79,639,809 (GRCm38)	missense	possibly damaging	0.92
R6935:Col12a1	UTSW	9	79,700,500 (GRCm38)	missense	possibly damaging	0.76
R7198:Col12a1	UTSW	9	79,650,032 (GRCm38)	missense	possibly damaging	0.56
R7296:Col12a1	UTSW	9	79,682,066 (GRCm38)	missense	probably damaging	1.00
R7365:Col12a1	UTSW	9	79,706,360 (GRCm38)	missense	probably damaging	0.99
R7466:Col12a1	UTSW	9	79,655,407 (GRCm38)	missense	possibly damaging	0.95
R7516:Col12a1	UTSW	9	79,612,910 (GRCm38)	splice site	probably null
R7584:Col12a1	UTSW	9	79,703,296 (GRCm38)	critical splice donor site	probably null
R7624:Col12a1	UTSW	9	79,645,794 (GRCm38)	splice site	probably null
R7670:Col12a1	UTSW	9	79,631,643 (GRCm38)	missense	probably damaging	1.00
R7678:Col12a1	UTSW	9	79,651,486 (GRCm38)	missense	probably damaging	0.99
R7702:Col12a1	UTSW	9	79,681,521 (GRCm38)	missense	probably damaging	1.00
R7796:Col12a1	UTSW	9	79,678,551 (GRCm38)	missense	possibly damaging	0.88
R7902:Col12a1	UTSW	9	79,641,581 (GRCm38)	missense	probably benign	0.00
R7923:Col12a1	UTSW	9	79,678,493 (GRCm38)	missense	probably benign	0.00
R7986:Col12a1	UTSW	9	79,604,392 (GRCm38)	critical splice donor site	probably null
R8004:Col12a1	UTSW	9	79,684,401 (GRCm38)	missense	probably damaging	1.00
R8046:Col12a1	UTSW	9	79,706,226 (GRCm38)	critical splice donor site	probably null
R8056:Col12a1	UTSW	9	79,599,938 (GRCm38)	missense
R8151:Col12a1	UTSW	9	79,630,549 (GRCm38)	missense	possibly damaging	0.62
R8203:Col12a1	UTSW	9	79,681,549 (GRCm38)	missense	possibly damaging	0.94
R8221:Col12a1	UTSW	9	79,643,942 (GRCm38)	missense	probably damaging	1.00
R8294:Col12a1	UTSW	9	79,699,312 (GRCm38)	missense	possibly damaging	0.91
R8309:Col12a1	UTSW	9	79,605,183 (GRCm38)	missense	possibly damaging	0.68
R8319:Col12a1	UTSW	9	79,648,697 (GRCm38)	missense	probably damaging	0.97
R8351:Col12a1	UTSW	9	79,681,412 (GRCm38)	missense	probably damaging	0.97
R8442:Col12a1	UTSW	9	79,635,499 (GRCm38)	missense	probably damaging	1.00
R8500:Col12a1	UTSW	9	79,609,851 (GRCm38)	missense	probably damaging	1.00
R8682:Col12a1	UTSW	9	79,661,076 (GRCm38)	missense	probably benign	0.03
R8700:Col12a1	UTSW	9	79,620,089 (GRCm38)	missense	probably benign	0.09
R8859:Col12a1	UTSW	9	79,680,399 (GRCm38)	nonsense	probably null
R8898:Col12a1	UTSW	9	79,692,295 (GRCm38)	missense	probably benign	0.08
R8930:Col12a1	UTSW	9	79,673,383 (GRCm38)	missense	probably benign
R8932:Col12a1	UTSW	9	79,673,383 (GRCm38)	missense	probably benign
R8949:Col12a1	UTSW	9	79,674,688 (GRCm38)	missense	probably benign	0.17
R8962:Col12a1	UTSW	9	79,631,619 (GRCm38)	missense	probably damaging	1.00
R9045:Col12a1	UTSW	9	79,674,752 (GRCm38)	missense	probably benign	0.00
R9080:Col12a1	UTSW	9	79,609,851 (GRCm38)	missense	probably benign	0.06
R9145:Col12a1	UTSW	9	79,620,062 (GRCm38)	missense	probably benign	0.16
R9163:Col12a1	UTSW	9	79,641,447 (GRCm38)	critical splice donor site	probably null
R9168:Col12a1	UTSW	9	79,641,501 (GRCm38)	nonsense	probably null
R9188:Col12a1	UTSW	9	79,602,332 (GRCm38)	missense	probably benign	0.22
R9258:Col12a1	UTSW	9	79,706,363 (GRCm38)	missense	probably benign	0.04
R9292:Col12a1	UTSW	9	79,678,523 (GRCm38)	missense	probably benign	0.33
R9345:Col12a1	UTSW	9	79,633,735 (GRCm38)	missense	probably benign	0.08
R9382:Col12a1	UTSW	9	79,682,082 (GRCm38)	missense	probably benign	0.23
R9427:Col12a1	UTSW	9	79,682,163 (GRCm38)	missense	probably benign	0.15
R9601:Col12a1	UTSW	9	79,617,752 (GRCm38)	missense	probably damaging	0.98
R9653:Col12a1	UTSW	9	79,677,274 (GRCm38)	missense	probably benign
R9668:Col12a1	UTSW	9	79,639,678 (GRCm38)	nonsense	probably null
R9762:Col12a1	UTSW	9	79,619,984 (GRCm38)	missense	possibly damaging	0.82
X0021:Col12a1	UTSW	9	79,608,485 (GRCm38)	missense	probably damaging	1.00
X0058:Col12a1	UTSW	9	79,602,224 (GRCm38)	missense	possibly damaging	0.66
X0061:Col12a1	UTSW	9	79,612,392 (GRCm38)	splice site	probably null
Z1177:Col12a1	UTSW	9	79,599,986 (GRCm38)	missense	possibly damaging	0.80
Z1177:Col12a1	UTSW	9	79,639,696 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CAGGTCCCGAGGAATATTCAG -3'
(R):5'- GCAGGATATCTTCAGGATGTCTGG -3'

Sequencing Primer
(F):5'- GGTCCCGAGGAATATTCAGCAATC -3'
(R):5'- GCATGCTTGTAAACAAAACTGGTC -3'

Posted On

2016-02-04