Mutagenetix > Incidental Mutation

Incidental Mutation 'R7296:Col6a3'

571590

Institutional Source

Beutler Lab

Gene Symbol

Col6a3

Ensembl Gene

ENSMUSG00000048126

Gene Name

collagen, type VI, alpha 3

Synonyms

Col6a-3

MMRRC Submission

045400-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7296 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90765923-90843971 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90827986 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 194 (M194V)

Ref Sequence

ENSEMBL: ENSMUSP00000115210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056925] [ENSMUST00000097653] [ENSMUST00000130846] [ENSMUST00000187753] [ENSMUST00000188587]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000056925
AA Change: M194V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000057131
Gene: ENSMUSG00000048126
AA Change: M194V

Domain	Start	End	E-Value	Type
VWA	36	214	3.58e-42	SMART
VWA	239	415	3.34e-42	SMART
VWA	442	617	7.27e-43	SMART
VWA	636	813	7.8e-43	SMART
VWA	834	1010	4.21e-39	SMART
VWA	1024	1203	3.02e-40	SMART
VWA	1228	1406	1.1e-42	SMART
VWA	1431	1604	9.17e-40	SMART
VWA	1634	1807	1.78e-37	SMART
VWA	1833	2022	7.92e-3	SMART
Pfam:Collagen	2033	2094	2e-10	PFAM
Pfam:Collagen	2077	2142	2.8e-10	PFAM
low complexity region	2179	2222	N/A	INTRINSIC
low complexity region	2228	2279	N/A	INTRINSIC
Pfam:Collagen	2311	2373	7.9e-11	PFAM
VWA	2397	2576	3.95e-21	SMART
VWA	2614	2813	2.25e-25	SMART
low complexity region	2864	2880	N/A	INTRINSIC
low complexity region	2886	2900	N/A	INTRINSIC
low complexity region	2903	2941	N/A	INTRINSIC
low complexity region	2945	3024	N/A	INTRINSIC
low complexity region	3039	3076	N/A	INTRINSIC
low complexity region	3091	3103	N/A	INTRINSIC
FN3	3104	3183	4.6e-1	SMART
KU	3226	3279	4.34e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097653

SMART Domains

Protein: ENSMUSP00000137585
Gene: ENSMUSG00000048126

Domain	Start	End	E-Value	Type
VWA	35	210	7.27e-43	SMART
VWA	227	403	4.21e-39	SMART
VWA	417	596	3.02e-40	SMART
VWA	621	799	1.1e-42	SMART
VWA	824	997	9.17e-40	SMART
VWA	1027	1200	1.78e-37	SMART
VWA	1226	1415	7.92e-3	SMART
Pfam:Collagen	1426	1486	9.2e-10	PFAM
Pfam:Collagen	1473	1539	2.2e-9	PFAM
low complexity region	1572	1615	N/A	INTRINSIC
low complexity region	1621	1672	N/A	INTRINSIC
low complexity region	1690	1704	N/A	INTRINSIC
low complexity region	1713	1734	N/A	INTRINSIC
VWA	1790	1969	3.95e-21	SMART
VWA	2007	2206	2.25e-25	SMART
low complexity region	2257	2273	N/A	INTRINSIC
low complexity region	2279	2293	N/A	INTRINSIC
low complexity region	2296	2334	N/A	INTRINSIC
low complexity region	2338	2417	N/A	INTRINSIC
low complexity region	2432	2469	N/A	INTRINSIC
low complexity region	2484	2496	N/A	INTRINSIC
FN3	2497	2576	4.6e-1	SMART
KU	2619	2672	4.34e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130846
AA Change: M194V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115210
Gene: ENSMUSG00000048126
AA Change: M194V

Domain	Start	End	E-Value	Type
VWA	36	214	3.58e-42	SMART
VWA	239	415	3.34e-42	SMART
VWA	442	617	7.27e-43	SMART
VWA	636	813	7.8e-43	SMART
VWA	834	1010	4.21e-39	SMART
VWA	1024	1203	3.02e-40	SMART
VWA	1228	1406	1.1e-42	SMART
VWA	1431	1604	9.17e-40	SMART
Pfam:VWA	1636	1703	1.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187753

SMART Domains

Protein: ENSMUSP00000140280
Gene: ENSMUSG00000048126

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:VWA	35	74	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188587

SMART Domains

Protein: ENSMUSP00000140858
Gene: ENSMUSG00000048126

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWA	35	210	4.7e-45	SMART
VWA	227	403	2.7e-41	SMART
VWA	417	596	2e-42	SMART
VWA	621	799	7e-45	SMART
VWA	824	997	5.8e-42	SMART
VWA	1027	1200	1.1e-39	SMART
VWA	1226	1415	4.8e-5	SMART
Pfam:Collagen	1426	1486	3.8e-8	PFAM
Pfam:Collagen	1473	1539	9.1e-8	PFAM
low complexity region	1572	1615	N/A	INTRINSIC
low complexity region	1621	1672	N/A	INTRINSIC
low complexity region	1690	1704	N/A	INTRINSIC
low complexity region	1713	1734	N/A	INTRINSIC
VWA	1790	1969	2.4e-23	SMART
VWA	2007	2206	1.4e-27	SMART
low complexity region	2257	2273	N/A	INTRINSIC
low complexity region	2279	2293	N/A	INTRINSIC
low complexity region	2296	2334	N/A	INTRINSIC
low complexity region	2338	2417	N/A	INTRINSIC
low complexity region	2432	2469	N/A	INTRINSIC
low complexity region	2484	2496	N/A	INTRINSIC
FN3	2497	2576	2.2e-3	SMART
KU	2619	2672	2.1e-26	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (85/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology. [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
1700066M21Rik	T	A	1: 57,383,143 (GRCm38)	M226K	probably benign	Het
2010300C02Rik	T	C	1: 37,614,618 (GRCm38)	T1036A	possibly damaging	Het
4921524L21Rik	T	G	18: 6,626,385 (GRCm38)	S132R	probably damaging	Het
A4gnt	T	G	9: 99,620,282 (GRCm38)	I165S	probably damaging	Het
Abca14	G	A	7: 120,278,311 (GRCm38)	D1061N	probably benign	Het
Abcc9	G	A	6: 142,671,593 (GRCm38)	P582S	probably damaging	Het
Abhd5	G	A	9: 122,379,573 (GRCm38)	V343I	probably benign	Het
Adam6a	C	T	12: 113,545,572 (GRCm38)	R522C	probably damaging	Het
Ankle2	G	A	5: 110,237,724 (GRCm38)	R313H	probably damaging	Het
Aplf	G	A	6: 87,646,215 (GRCm38)	T315I	probably damaging	Het
Arntl2	G	A	6: 146,822,134 (GRCm38)	V321I	not run	Het
Asic5	C	T	3: 82,021,076 (GRCm38)	P491S	probably benign	Het
Atp5b	T	C	10: 128,085,522 (GRCm38)	Y230H	probably benign	Het
B4galt6	A	T	18: 20,728,042 (GRCm38)	I51N	probably damaging	Het
C4b	A	G	17: 34,743,659 (GRCm38)	L23S	probably damaging	Het
C77080	A	G	4: 129,225,418 (GRCm38)	Y170H	probably damaging	Het
Cables2	A	G	2: 180,260,336 (GRCm38)	V410A		Het
Cdyl	A	G	13: 35,863,395 (GRCm38)	M489V	probably damaging	Het
Clip4	T	C	17: 71,790,001 (GRCm38)	M40T	probably damaging	Het
Col12a1	T	C	9: 79,682,066 (GRCm38)	Y1069C	probably damaging	Het
Colec11	T	A	12: 28,594,715 (GRCm38)	D260V	probably damaging	Het
Cux2	T	C	5: 121,861,256 (GRCm38)	D1207G	probably benign	Het
Cyp2d34	G	T	15: 82,617,235 (GRCm38)	N297K	possibly damaging	Het
Dmbt1	A	G	7: 131,112,132 (GRCm38)	Y1643C	unknown	Het
Dnmt3c	A	G	2: 153,715,026 (GRCm38)	T288A	probably benign	Het
Dock8	T	A	19: 25,184,881 (GRCm38)	F1842I	probably benign	Het
Dysf	A	G	6: 84,106,898 (GRCm38)	I740V	probably benign	Het
Epha6	T	A	16: 59,915,838 (GRCm38)	M778L	probably benign	Het
Eri2	A	T	7: 119,786,516 (GRCm38)	L254*	probably null	Het
Fam129b	T	C	2: 32,922,642 (GRCm38)	S468P	possibly damaging	Het
Fam43b	A	G	4: 138,395,841 (GRCm38)	F56S	probably damaging	Het
Fat4	C	A	3: 38,889,145 (GRCm38)	S729*	probably null	Het
Fbxw22	C	A	9: 109,382,075 (GRCm38)	W386L	probably benign	Het
Fgd6	T	A	10: 94,044,047 (GRCm38)	C254*	probably null	Het
Fgd6	C	A	10: 94,139,881 (GRCm38)	T1386K	probably benign	Het
Fkbp7	G	T	2: 76,671,764 (GRCm38)	D98E	possibly damaging	Het
Gm8251	T	A	1: 44,060,916 (GRCm38)	K341*	probably null	Het
Hectd1	C	T	12: 51,785,852 (GRCm38)	C913Y	possibly damaging	Het
Hgf	T	A	5: 16,564,843 (GRCm38)	M105K	probably benign	Het
Icam1	A	C	9: 21,019,015 (GRCm38)	D55A	probably benign	Het
Itga2	A	C	13: 114,857,394 (GRCm38)		probably null	Het
Kcnj5	A	C	9: 32,322,749 (GRCm38)	L90R	probably damaging	Het
Klra17	T	A	6: 129,831,592 (GRCm38)	N226I	possibly damaging	Het
Krt1	T	A	15: 101,850,629 (GRCm38)	R33S	unknown	Het
L3mbtl3	T	A	10: 26,282,830 (GRCm38)	D615V	unknown	Het
Lrp2	T	A	2: 69,482,381 (GRCm38)	Y2521F	probably benign	Het
Megf10	A	T	18: 57,275,753 (GRCm38)	N589I	probably damaging	Het
Metap1d	G	C	2: 71,506,785 (GRCm38)	G14A	probably benign	Het
Mfap5	T	A	6: 122,528,422 (GRCm38)	D162E	probably benign	Het
Mixl1	T	C	1: 180,696,958 (GRCm38)	I19V	probably benign	Het
Mtrr	G	T	13: 68,568,860 (GRCm38)	Y411*	probably null	Het
Myh7	T	C	14: 54,990,025 (GRCm38)	T318A	probably benign	Het
Nbeal1	T	A	1: 60,310,224 (GRCm38)	Y2348*	probably null	Het
Nlrc3	T	C	16: 3,963,590 (GRCm38)	S668G	probably damaging	Het
Nutm1	G	A	2: 112,250,056 (GRCm38)	R505C	probably damaging	Het
Olfr1129	T	A	2: 87,575,708 (GRCm38)	V208E	probably damaging	Het
Olfr1222	C	A	2: 89,124,836 (GRCm38)	R298S	probably benign	Het
Olfr527	A	T	7: 140,336,741 (GRCm38)	D293V	possibly damaging	Het
Pcna	A	G	2: 132,252,877 (GRCm38)	S54P	probably benign	Het
Pde6a	A	G	18: 61,258,293 (GRCm38)	T570A	probably damaging	Het
Phf21b	A	T	15: 84,855,717 (GRCm38)	M1K	probably null	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195 (GRCm38)		probably benign	Het
Prob1	A	G	18: 35,653,299 (GRCm38)	F634S	possibly damaging	Het
Prss50	A	G	9: 110,861,289 (GRCm38)	T167A	probably damaging	Het
Ptpn1	T	C	2: 167,974,772 (GRCm38)	V249A	probably damaging	Het
Rai1	G	A	11: 60,188,673 (GRCm38)	V1188I	probably benign	Het
Ric1	G	A	19: 29,584,578 (GRCm38)		probably null	Het
Robo1	C	T	16: 72,989,631 (GRCm38)	Q844*	probably null	Het
Rpn1	A	G	6: 88,084,637 (GRCm38)	D36G	possibly damaging	Het
Serpinb1b	A	T	13: 33,093,827 (GRCm38)	M348L	probably benign	Het
Setd4	T	C	16: 93,583,942 (GRCm38)		probably null	Het
Setd5	T	G	6: 113,147,557 (GRCm38)	S1124A	probably benign	Het
Slc35c1	C	A	2: 92,458,739 (GRCm38)	V154F	probably damaging	Het
Slc7a6os	G	T	8: 106,210,489 (GRCm38)	S113*	probably null	Het
Syne2	T	A	12: 76,103,036 (GRCm38)	D1787E	probably benign	Het
Tas2r144	A	C	6: 42,215,439 (GRCm38)	I38L	probably damaging	Het
Tepsin	G	T	11: 120,091,708 (GRCm38)	T512K	possibly damaging	Het
Utp20	A	G	10: 88,770,724 (GRCm38)	V1662A	probably benign	Het
Vmn1r201	C	T	13: 22,475,339 (GRCm38)	A241V	possibly damaging	Het
Vmn2r60	T	A	7: 42,136,402 (GRCm38)	S210T	probably benign	Het
Wdr6	G	T	9: 108,574,585 (GRCm38)	H700N	probably damaging	Het
Zdhhc8	T	C	16: 18,234,926 (GRCm38)	T29A	probably benign	Het
Zfp335	A	G	2: 164,900,132 (GRCm38)	I614T	probably damaging	Het
Zfp54	T	A	17: 21,433,582 (GRCm38)	S113T	probably benign	Het
Zfp873	T	A	10: 82,061,237 (GRCm38)	C601S	probably damaging	Het
Zfyve26	T	C	12: 79,278,372 (GRCm38)		probably null	Het
Zmynd8	T	C	2: 165,840,009 (GRCm38)	T201A	probably damaging	Het

Other mutations in Col6a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Col6a3	APN	1	90,828,255 (GRCm38)	missense	probably damaging	1.00
IGL00425:Col6a3	APN	1	90,782,026 (GRCm38)	missense	unknown
IGL00541:Col6a3	APN	1	90,802,142 (GRCm38)	missense	possibly damaging	0.83
IGL01063:Col6a3	APN	1	90,802,332 (GRCm38)	missense	probably damaging	1.00
IGL01094:Col6a3	APN	1	90,803,933 (GRCm38)	missense	possibly damaging	0.93
IGL01138:Col6a3	APN	1	90,807,510 (GRCm38)	missense	probably damaging	1.00
IGL01291:Col6a3	APN	1	90,802,292 (GRCm38)	missense	probably damaging	1.00
IGL01674:Col6a3	APN	1	90,802,514 (GRCm38)	missense	probably damaging	1.00
IGL01756:Col6a3	APN	1	90,779,162 (GRCm38)	missense	unknown
IGL01827:Col6a3	APN	1	90,802,319 (GRCm38)	missense	probably damaging	1.00
IGL01845:Col6a3	APN	1	90,796,571 (GRCm38)	missense	probably damaging	1.00
IGL01869:Col6a3	APN	1	90,773,048 (GRCm38)	missense	unknown
IGL01900:Col6a3	APN	1	90,795,010 (GRCm38)	critical splice donor site	probably null
IGL01925:Col6a3	APN	1	90,802,236 (GRCm38)	missense	possibly damaging	0.95
IGL02002:Col6a3	APN	1	90,782,136 (GRCm38)	splice site	probably benign
IGL02115:Col6a3	APN	1	90,807,651 (GRCm38)	missense	probably damaging	0.99
IGL02302:Col6a3	APN	1	90,781,760 (GRCm38)	missense	unknown
IGL02313:Col6a3	APN	1	90,811,606 (GRCm38)	missense	probably damaging	1.00
IGL02458:Col6a3	APN	1	90,779,197 (GRCm38)	missense	unknown
IGL02821:Col6a3	APN	1	90,803,878 (GRCm38)	missense	probably damaging	1.00
IGL02828:Col6a3	APN	1	90,796,559 (GRCm38)	missense	probably damaging	1.00
IGL03112:Col6a3	APN	1	90,811,520 (GRCm38)	nonsense	probably null
IGL03129:Col6a3	APN	1	90,821,862 (GRCm38)	missense	probably damaging	1.00
IGL03132:Col6a3	APN	1	90,803,893 (GRCm38)	missense	probably damaging	1.00
IGL03148:Col6a3	APN	1	90,827,866 (GRCm38)	missense	probably benign	0.33
IGL03251:Col6a3	APN	1	90,810,176 (GRCm38)	missense	probably damaging	1.00
bailey	UTSW	1	90,767,606 (GRCm38)	critical splice acceptor site	probably benign
barnum	UTSW	1	90,779,152 (GRCm38)	missense	unknown
Boneless	UTSW	1	90,779,059 (GRCm38)	missense	unknown
Noodloid	UTSW	1	90,779,289 (GRCm38)	missense	unknown
randolf	UTSW	1	90,787,951 (GRCm38)	missense	unknown
stringy	UTSW	1	90,803,678 (GRCm38)	nonsense	probably null
wonder	UTSW	1	90,791,923 (GRCm38)	critical splice donor site	probably null
ANU05:Col6a3	UTSW	1	90,802,292 (GRCm38)	missense	probably damaging	1.00
IGL03048:Col6a3	UTSW	1	90,810,248 (GRCm38)	missense	possibly damaging	0.58
PIT4810001:Col6a3	UTSW	1	90,778,794 (GRCm38)	missense	unknown
R0020:Col6a3	UTSW	1	90,811,550 (GRCm38)	missense	probably damaging	0.99
R0020:Col6a3	UTSW	1	90,811,550 (GRCm38)	missense	probably damaging	0.99
R0033:Col6a3	UTSW	1	90,802,245 (GRCm38)	missense	probably damaging	1.00
R0033:Col6a3	UTSW	1	90,802,245 (GRCm38)	missense	probably damaging	1.00
R0105:Col6a3	UTSW	1	90,798,161 (GRCm38)	missense	possibly damaging	0.65
R0116:Col6a3	UTSW	1	90,813,551 (GRCm38)	missense	probably damaging	1.00
R0167:Col6a3	UTSW	1	90,798,173 (GRCm38)	missense	probably damaging	1.00
R0319:Col6a3	UTSW	1	90,807,704 (GRCm38)	missense	possibly damaging	0.95
R0348:Col6a3	UTSW	1	90,828,049 (GRCm38)	missense	probably damaging	1.00
R0365:Col6a3	UTSW	1	90,788,216 (GRCm38)	missense	unknown
R0512:Col6a3	UTSW	1	90,821,798 (GRCm38)	intron	probably benign
R0564:Col6a3	UTSW	1	90,807,734 (GRCm38)	missense	probably damaging	1.00
R0635:Col6a3	UTSW	1	90,808,086 (GRCm38)	splice site	probably null
R0667:Col6a3	UTSW	1	90,828,101 (GRCm38)	missense	probably damaging	0.98
R0680:Col6a3	UTSW	1	90,778,981 (GRCm38)	missense	unknown
R0736:Col6a3	UTSW	1	90,804,089 (GRCm38)	missense	possibly damaging	0.95
R0737:Col6a3	UTSW	1	90,828,298 (GRCm38)	missense	probably damaging	1.00
R0747:Col6a3	UTSW	1	90,802,653 (GRCm38)	missense	probably damaging	1.00
R1155:Col6a3	UTSW	1	90,794,325 (GRCm38)	missense	probably null	1.00
R1169:Col6a3	UTSW	1	90,822,014 (GRCm38)	missense	possibly damaging	0.67
R1180:Col6a3	UTSW	1	90,781,855 (GRCm38)	missense	unknown
R1225:Col6a3	UTSW	1	90,811,516 (GRCm38)	missense	probably damaging	1.00
R1343:Col6a3	UTSW	1	90,768,347 (GRCm38)	missense	unknown
R1387:Col6a3	UTSW	1	90,822,416 (GRCm38)	intron	probably benign
R1437:Col6a3	UTSW	1	90,801,376 (GRCm38)	missense	probably damaging	1.00
R1448:Col6a3	UTSW	1	90,781,855 (GRCm38)	missense	unknown
R1677:Col6a3	UTSW	1	90,821,861 (GRCm38)	missense	probably benign	0.14
R1681:Col6a3	UTSW	1	90,773,502 (GRCm38)	missense	unknown
R1711:Col6a3	UTSW	1	90,830,213 (GRCm38)	missense	probably damaging	1.00
R1727:Col6a3	UTSW	1	90,796,574 (GRCm38)	critical splice acceptor site	probably null
R1736:Col6a3	UTSW	1	90,779,059 (GRCm38)	missense	unknown
R1738:Col6a3	UTSW	1	90,816,361 (GRCm38)	missense	probably damaging	1.00
R1742:Col6a3	UTSW	1	90,813,794 (GRCm38)	missense	probably damaging	1.00
R1809:Col6a3	UTSW	1	90,827,949 (GRCm38)	missense	probably damaging	1.00
R1851:Col6a3	UTSW	1	90,807,534 (GRCm38)	missense	possibly damaging	0.69
R1852:Col6a3	UTSW	1	90,807,534 (GRCm38)	missense	possibly damaging	0.69
R1872:Col6a3	UTSW	1	90,830,214 (GRCm38)	missense	probably damaging	0.96
R1889:Col6a3	UTSW	1	90,803,711 (GRCm38)	missense	probably benign	0.00
R1895:Col6a3	UTSW	1	90,803,711 (GRCm38)	missense	probably benign	0.00
R1908:Col6a3	UTSW	1	90,811,699 (GRCm38)	missense	probably damaging	1.00
R1919:Col6a3	UTSW	1	90,822,359 (GRCm38)	missense	possibly damaging	0.66
R1973:Col6a3	UTSW	1	90,804,175 (GRCm38)	missense	probably damaging	1.00
R2083:Col6a3	UTSW	1	90,782,011 (GRCm38)	missense	unknown
R2121:Col6a3	UTSW	1	90,810,365 (GRCm38)	missense	probably damaging	1.00
R2197:Col6a3	UTSW	1	90,803,745 (GRCm38)	missense	probably benign	0.09
R2448:Col6a3	UTSW	1	90,813,358 (GRCm38)	missense	probably damaging	1.00
R2831:Col6a3	UTSW	1	90,803,713 (GRCm38)	missense	possibly damaging	0.89
R2877:Col6a3	UTSW	1	90,775,599 (GRCm38)	missense	unknown
R3052:Col6a3	UTSW	1	90,802,130 (GRCm38)	missense	possibly damaging	0.71
R3104:Col6a3	UTSW	1	90,816,302 (GRCm38)	missense	probably damaging	0.99
R3105:Col6a3	UTSW	1	90,816,302 (GRCm38)	missense	probably damaging	0.99
R3106:Col6a3	UTSW	1	90,816,302 (GRCm38)	missense	probably damaging	0.99
R3418:Col6a3	UTSW	1	90,804,091 (GRCm38)	missense	probably benign	0.42
R3419:Col6a3	UTSW	1	90,804,091 (GRCm38)	missense	probably benign	0.42
R3837:Col6a3	UTSW	1	90,780,081 (GRCm38)	missense	unknown
R4007:Col6a3	UTSW	1	90,802,569 (GRCm38)	missense	probably damaging	1.00
R4082:Col6a3	UTSW	1	90,821,883 (GRCm38)	missense	probably damaging	1.00
R4181:Col6a3	UTSW	1	90,807,614 (GRCm38)	missense	probably damaging	1.00
R4200:Col6a3	UTSW	1	90,801,383 (GRCm38)	missense	probably benign	0.28
R4244:Col6a3	UTSW	1	90,786,639 (GRCm38)	missense	unknown
R4297:Col6a3	UTSW	1	90,811,378 (GRCm38)	missense	probably damaging	1.00
R4302:Col6a3	UTSW	1	90,807,614 (GRCm38)	missense	probably damaging	1.00
R4472:Col6a3	UTSW	1	90,822,014 (GRCm38)	missense	probably benign	0.23
R4600:Col6a3	UTSW	1	90,781,904 (GRCm38)	missense	unknown
R4683:Col6a3	UTSW	1	90,773,457 (GRCm38)	missense	unknown
R4788:Col6a3	UTSW	1	90,772,950 (GRCm38)	critical splice donor site	probably null
R4851:Col6a3	UTSW	1	90,779,289 (GRCm38)	missense	unknown
R4899:Col6a3	UTSW	1	90,802,427 (GRCm38)	missense	probably damaging	0.99
R4904:Col6a3	UTSW	1	90,801,442 (GRCm38)	missense	probably damaging	1.00
R4908:Col6a3	UTSW	1	90,807,524 (GRCm38)	missense	probably damaging	1.00
R4960:Col6a3	UTSW	1	90,804,218 (GRCm38)	missense	probably damaging	1.00
R4981:Col6a3	UTSW	1	90,778,843 (GRCm38)	missense	unknown
R5057:Col6a3	UTSW	1	90,816,130 (GRCm38)	missense	possibly damaging	0.91
R5062:Col6a3	UTSW	1	90,779,352 (GRCm38)	missense	unknown
R5105:Col6a3	UTSW	1	90,798,140 (GRCm38)	missense	possibly damaging	0.81
R5127:Col6a3	UTSW	1	90,768,345 (GRCm38)	missense	unknown
R5166:Col6a3	UTSW	1	90,810,608 (GRCm38)	missense	probably damaging	1.00
R5168:Col6a3	UTSW	1	90,773,639 (GRCm38)	nonsense	probably null
R5196:Col6a3	UTSW	1	90,816,538 (GRCm38)	splice site	probably null
R5230:Col6a3	UTSW	1	90,789,054 (GRCm38)	missense	unknown
R5268:Col6a3	UTSW	1	90,785,243 (GRCm38)	missense	unknown
R5381:Col6a3	UTSW	1	90,775,612 (GRCm38)	missense	unknown
R5392:Col6a3	UTSW	1	90,801,295 (GRCm38)	missense	probably benign	0.41
R5445:Col6a3	UTSW	1	90,782,039 (GRCm38)	nonsense	probably null
R5571:Col6a3	UTSW	1	90,788,216 (GRCm38)	missense	unknown
R5665:Col6a3	UTSW	1	90,827,880 (GRCm38)	missense	probably benign	0.00
R5902:Col6a3	UTSW	1	90,802,199 (GRCm38)	splice site	probably null
R5914:Col6a3	UTSW	1	90,776,200 (GRCm38)	missense	unknown
R5955:Col6a3	UTSW	1	90,811,441 (GRCm38)	missense	probably damaging	1.00
R5977:Col6a3	UTSW	1	90,821,849 (GRCm38)	missense	possibly damaging	0.82
R6006:Col6a3	UTSW	1	90,768,383 (GRCm38)	missense	unknown
R6010:Col6a3	UTSW	1	90,773,497 (GRCm38)	missense	unknown
R6025:Col6a3	UTSW	1	90,828,102 (GRCm38)	missense	probably damaging	1.00
R6151:Col6a3	UTSW	1	90,813,753 (GRCm38)	missense	possibly damaging	0.53
R6154:Col6a3	UTSW	1	90,773,665 (GRCm38)	missense	unknown
R6181:Col6a3	UTSW	1	90,816,374 (GRCm38)	missense	possibly damaging	0.95
R6197:Col6a3	UTSW	1	90,822,341 (GRCm38)	missense	probably damaging	1.00
R6332:Col6a3	UTSW	1	90,822,233 (GRCm38)	missense	probably damaging	1.00
R6362:Col6a3	UTSW	1	90,810,563 (GRCm38)	missense	probably damaging	0.99
R6476:Col6a3	UTSW	1	90,781,812 (GRCm38)	missense	unknown
R6484:Col6a3	UTSW	1	90,791,923 (GRCm38)	critical splice donor site	probably null
R6701:Col6a3	UTSW	1	90,792,462 (GRCm38)	missense	probably benign	0.14
R6702:Col6a3	UTSW	1	90,779,439 (GRCm38)	missense	unknown
R6703:Col6a3	UTSW	1	90,792,462 (GRCm38)	missense	probably benign	0.14
R6703:Col6a3	UTSW	1	90,779,439 (GRCm38)	missense	unknown
R6724:Col6a3	UTSW	1	90,779,152 (GRCm38)	missense	unknown
R6746:Col6a3	UTSW	1	90,779,045 (GRCm38)	missense	unknown
R6797:Col6a3	UTSW	1	90,804,088 (GRCm38)	missense	probably damaging	0.99
R6798:Col6a3	UTSW	1	90,795,009 (GRCm38)	splice site	probably null
R6903:Col6a3	UTSW	1	90,794,207 (GRCm38)	missense	probably damaging	1.00
R6925:Col6a3	UTSW	1	90,816,002 (GRCm38)	missense	probably benign	0.00
R6978:Col6a3	UTSW	1	90,807,470 (GRCm38)	critical splice donor site	probably null
R7058:Col6a3	UTSW	1	90,828,037 (GRCm38)	nonsense	probably null
R7182:Col6a3	UTSW	1	90,803,678 (GRCm38)	nonsense	probably null
R7294:Col6a3	UTSW	1	90,828,283 (GRCm38)	missense	probably damaging	1.00
R7311:Col6a3	UTSW	1	90,822,291 (GRCm38)	missense	probably damaging	1.00
R7412:Col6a3	UTSW	1	90,828,133 (GRCm38)	missense	probably damaging	0.98
R7561:Col6a3	UTSW	1	90,775,741 (GRCm38)	missense	unknown
R7575:Col6a3	UTSW	1	90,810,599 (GRCm38)	missense	possibly damaging	0.92
R7659:Col6a3	UTSW	1	90,781,745 (GRCm38)	missense	unknown
R7679:Col6a3	UTSW	1	90,811,751 (GRCm38)	missense	possibly damaging	0.49
R7831:Col6a3	UTSW	1	90,796,546 (GRCm38)	nonsense	probably null
R7855:Col6a3	UTSW	1	90,810,621 (GRCm38)	missense	possibly damaging	0.57
R7990:Col6a3	UTSW	1	90,781,855 (GRCm38)	missense	unknown
R8003:Col6a3	UTSW	1	90,775,733 (GRCm38)	missense	unknown
R8007:Col6a3	UTSW	1	90,777,457 (GRCm38)	missense	unknown
R8098:Col6a3	UTSW	1	90,803,661 (GRCm38)	missense	probably benign
R8312:Col6a3	UTSW	1	90,813,690 (GRCm38)	missense	possibly damaging	0.55
R8419:Col6a3	UTSW	1	90,802,213 (GRCm38)	missense	probably damaging	1.00
R8723:Col6a3	UTSW	1	90,767,606 (GRCm38)	critical splice acceptor site	probably benign
R8725:Col6a3	UTSW	1	90,767,606 (GRCm38)	critical splice acceptor site	probably benign
R8737:Col6a3	UTSW	1	90,800,025 (GRCm38)	missense	probably benign	0.10
R8742:Col6a3	UTSW	1	90,767,606 (GRCm38)	critical splice acceptor site	probably benign
R8743:Col6a3	UTSW	1	90,767,606 (GRCm38)	critical splice acceptor site	probably benign
R8744:Col6a3	UTSW	1	90,767,606 (GRCm38)	critical splice acceptor site	probably benign
R8753:Col6a3	UTSW	1	90,767,606 (GRCm38)	critical splice acceptor site	probably benign
R8754:Col6a3	UTSW	1	90,767,606 (GRCm38)	critical splice acceptor site	probably benign
R8773:Col6a3	UTSW	1	90,768,449 (GRCm38)	missense	unknown
R8857:Col6a3	UTSW	1	90,775,763 (GRCm38)	missense	unknown
R8867:Col6a3	UTSW	1	90,787,951 (GRCm38)	missense	unknown
R8887:Col6a3	UTSW	1	90,828,226 (GRCm38)	missense	probably benign
R9011:Col6a3	UTSW	1	90,782,335 (GRCm38)	splice site	probably benign
R9049:Col6a3	UTSW	1	90,779,344 (GRCm38)	missense	unknown
R9142:Col6a3	UTSW	1	90,778,844 (GRCm38)	missense	unknown
R9155:Col6a3	UTSW	1	90,810,579 (GRCm38)	missense	probably benign	0.27
R9249:Col6a3	UTSW	1	90,779,298 (GRCm38)	missense	unknown
R9258:Col6a3	UTSW	1	90,772,981 (GRCm38)	missense	unknown
R9274:Col6a3	UTSW	1	90,779,298 (GRCm38)	missense	unknown
R9276:Col6a3	UTSW	1	90,807,681 (GRCm38)	missense	possibly damaging	0.94
R9315:Col6a3	UTSW	1	90,811,257 (GRCm38)	critical splice donor site	probably null
R9376:Col6a3	UTSW	1	90,781,801 (GRCm38)	missense	unknown
R9377:Col6a3	UTSW	1	90,816,239 (GRCm38)	missense	probably damaging	1.00
R9429:Col6a3	UTSW	1	90,803,863 (GRCm38)	missense	probably benign	0.01
R9439:Col6a3	UTSW	1	90,816,433 (GRCm38)	missense	probably damaging	1.00
R9440:Col6a3	UTSW	1	90,779,346 (GRCm38)	missense	unknown
R9441:Col6a3	UTSW	1	90,777,527 (GRCm38)	nonsense	probably null
R9477:Col6a3	UTSW	1	90,778,899 (GRCm38)	missense	unknown
R9498:Col6a3	UTSW	1	90,785,928 (GRCm38)	nonsense	probably null
R9528:Col6a3	UTSW	1	90,804,067 (GRCm38)	missense	probably damaging	1.00
R9602:Col6a3	UTSW	1	90,803,775 (GRCm38)	missense	probably benign	0.07
RF005:Col6a3	UTSW	1	90,811,262 (GRCm38)	missense	probably benign	0.00
RF012:Col6a3	UTSW	1	90,810,560 (GRCm38)	missense	probably damaging	1.00
X0024:Col6a3	UTSW	1	90,803,637 (GRCm38)	critical splice donor site	probably null
X0063:Col6a3	UTSW	1	90,803,905 (GRCm38)	missense	probably damaging	1.00
X0067:Col6a3	UTSW	1	90,811,529 (GRCm38)	missense	probably damaging	1.00
Z1177:Col6a3	UTSW	1	90,811,728 (GRCm38)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- ATTTGCCAAGCTCACAGCC -3'
(R):5'- GTAATTCACAGCCACCTCACTG -3'

Sequencing Primer
(F):5'- CACACAGCAGCAAGGCAGG -3'
(R):5'- TCACTGAGGCTTCCGGAAG -3'

Posted On

2019-09-13