Mutagenetix > Incidental Mutation

Incidental Mutation 'R4854:Col6a5'

373806

Institutional Source

Beutler Lab

Gene Symbol

Col6a5

Ensembl Gene

ENSMUSG00000091345

Gene Name

collagen, type VI, alpha 5

Synonyms

Gm7455, Col6a5

MMRRC Submission

042465-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.846) question?

Stock #

R4854 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105733277-105837842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105775950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1702 (T1702A)

Ref Sequence

ENSEMBL: ENSMUSP00000139398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165165] [ENSMUST00000190193]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000165165
AA Change: T1702A

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131146
Gene: ENSMUSG00000091345
AA Change: T1702A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
VWA	28	200	1.8e-24	SMART
low complexity region	222	248	N/A	INTRINSIC
VWA	266	439	2.23e-20	SMART
VWA	472	649	6.84e-39	SMART
VWA	658	834	1.52e-45	SMART
VWA	844	1024	2.44e-44	SMART
VWA	1035	1208	2.95e-20	SMART
Pfam:Collagen	1425	1478	3.3e-8	PFAM
low complexity region	1493	1508	N/A	INTRINSIC
low complexity region	1535	1552	N/A	INTRINSIC
Pfam:Collagen	1555	1616	9.6e-10	PFAM
low complexity region	1711	1730	N/A	INTRINSIC
low complexity region	1739	1757	N/A	INTRINSIC
VWA	1788	1964	1.99e-17	SMART
VWA	1994	2173	5.98e-21	SMART
VWA	2319	2513	4.4e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190193
AA Change: T1702A

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000139398
Gene: ENSMUSG00000091345
AA Change: T1702A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
VWA	28	200	1.1e-26	SMART
low complexity region	222	248	N/A	INTRINSIC
VWA	266	439	1.4e-22	SMART
VWA	472	649	4.4e-41	SMART
VWA	658	834	9.5e-48	SMART
VWA	844	1024	1.6e-46	SMART
VWA	1035	1208	1.9e-22	SMART
Pfam:Collagen	1425	1478	1.2e-6	PFAM
Pfam:Collagen	1457	1530	5.9e-6	PFAM
low complexity region	1535	1552	N/A	INTRINSIC
Pfam:Collagen	1555	1616	3.6e-8	PFAM
Pfam:Collagen	1631	1691	8.4e-6	PFAM
Pfam:Collagen	1706	1764	6.6e-6	PFAM
VWA	1788	1964	1.2e-19	SMART
VWA	1994	2173	3.7e-23	SMART
VWA	2319	2513	2.8e-21	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (103/105)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	T	A	9: 22,119,333 (GRCm39)		noncoding transcript	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abl1	T	C	2: 31,669,022 (GRCm39)	Y110H	probably damaging	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Agbl3	G	A	6: 34,762,219 (GRCm39)	R73Q	probably damaging	Het
Agl	C	T	3: 116,572,267 (GRCm39)		probably null	Het
Amotl1	G	A	9: 14,504,747 (GRCm39)	Q191*	probably null	Het
Apbb1ip	A	G	2: 22,743,214 (GRCm39)	K349E	possibly damaging	Het
Arhgap10	G	A	8: 78,146,718 (GRCm39)	Q229*	probably null	Het
Aspm	C	T	1: 139,405,810 (GRCm39)	Q1566*	probably null	Het
B3gnt3	G	A	8: 72,145,517 (GRCm39)	R284C	probably damaging	Het
Bltp3b	T	G	10: 89,630,346 (GRCm39)	V382G	probably damaging	Het
Brd4	A	G	17: 32,439,211 (GRCm39)	V423A	probably damaging	Het
Btbd9	A	T	17: 30,743,839 (GRCm39)	I221N	probably damaging	Het
Camp	A	G	9: 109,676,519 (GRCm39)	V168A	probably benign	Het
Cd1d2	T	A	3: 86,896,556 (GRCm39)		probably null	Het
Cdkn2d	A	T	9: 21,202,223 (GRCm39)	V8D	probably benign	Het
Cimap1a	A	G	7: 140,429,375 (GRCm39)	Y168C	probably damaging	Het
Clec4g	T	C	8: 3,766,534 (GRCm39)	N256D	probably damaging	Het
Clspn	A	G	4: 126,469,743 (GRCm39)	I771V	probably benign	Het
Cntn6	A	G	6: 104,836,436 (GRCm39)	E862G	possibly damaging	Het
Dnah7a	T	C	1: 53,745,888 (GRCm39)		probably benign	Het
Dubr	T	C	16: 50,552,886 (GRCm39)		noncoding transcript	Het
Dusp26	G	A	8: 31,584,165 (GRCm39)	V91M	probably damaging	Het
Edc4	A	T	8: 106,614,557 (GRCm39)		probably benign	Het
F5	C	T	1: 164,019,715 (GRCm39)	A730V	probably damaging	Het
Foxf1	A	G	8: 121,813,553 (GRCm39)	T358A	probably benign	Het
Frem1	A	T	4: 82,834,995 (GRCm39)	N1810K	possibly damaging	Het
Galc	A	T	12: 98,223,136 (GRCm39)	F87I	probably damaging	Het
Gars1	A	G	6: 55,023,403 (GRCm39)	D66G	probably damaging	Het
Gbp11	G	A	5: 105,473,374 (GRCm39)	L460F	probably damaging	Het
Gdf7	T	C	12: 8,348,014 (GRCm39)	I436V	probably damaging	Het
Gigyf2	C	T	1: 87,282,135 (GRCm39)		probably benign	Het
Gm12239	T	C	11: 55,906,779 (GRCm39)		noncoding transcript	Het
Gm5592	A	C	7: 40,866,895 (GRCm39)		probably benign	Het
Gp2	A	T	7: 119,051,422 (GRCm39)	D264E	possibly damaging	Het
Gphn	G	A	12: 78,673,984 (GRCm39)	V526M	probably damaging	Het
Grid1	A	G	14: 35,043,598 (GRCm39)	I318V	probably benign	Het
Grm2	C	A	9: 106,531,331 (GRCm39)	V53F	possibly damaging	Het
Gtpbp1	T	C	15: 79,603,406 (GRCm39)	S632P	probably benign	Het
H2-M1	A	G	17: 36,980,950 (GRCm39)	F329L	probably benign	Het
Hecw1	T	A	13: 14,491,477 (GRCm39)	D92V	probably benign	Het
Hgh1	T	C	15: 76,253,382 (GRCm39)	L76P	probably damaging	Het
Idi2	C	A	13: 9,007,879 (GRCm39)	N63K	probably benign	Het
Ift122	A	G	6: 115,839,707 (GRCm39)	T25A	possibly damaging	Het
Itgb2l	A	T	16: 96,227,317 (GRCm39)	C575*	probably null	Het
Jup	A	G	11: 100,273,867 (GRCm39)	S225P	possibly damaging	Het
Kcng3	A	T	17: 83,895,735 (GRCm39)	C244S	probably damaging	Het
Klhl2	T	A	8: 65,287,111 (GRCm39)	M46L	possibly damaging	Het
Ksr1	A	T	11: 78,918,528 (GRCm39)	I460N	probably damaging	Het
Lama3	T	A	18: 12,544,599 (GRCm39)	F314Y	probably benign	Het
Lbp	T	C	2: 158,169,438 (GRCm39)	V421A	possibly damaging	Het
Lcp1	G	A	14: 75,437,929 (GRCm39)	G113D	probably damaging	Het
Lrp1b	A	T	2: 41,001,089 (GRCm39)	L2045H	probably damaging	Het
Mbd2	G	T	18: 70,701,806 (GRCm39)	D107Y	unknown	Het
Ms4a14	C	T	19: 11,287,733 (GRCm39)	V96I	possibly damaging	Het
N4bp2l2	C	T	5: 150,585,516 (GRCm39)	E155K	probably benign	Het
Nbeal2	T	G	9: 110,460,464 (GRCm39)	H1790P	probably damaging	Het
Nsg2	G	A	11: 31,981,806 (GRCm39)	G84R	probably benign	Het
Or10ad1b	A	C	15: 98,125,425 (GRCm39)	F34V	possibly damaging	Het
Or12e10	A	G	2: 87,640,934 (GRCm39)	T257A	probably damaging	Het
P2rx2	T	C	5: 110,488,793 (GRCm39)	N224D	probably damaging	Het
P2rx5	A	T	11: 73,062,605 (GRCm39)	E438V	probably benign	Het
Paip1	C	A	13: 119,586,425 (GRCm39)		probably benign	Het
Pik3c2g	T	A	6: 139,714,505 (GRCm39)	V219E	probably damaging	Het
Ppp1r12b	T	C	1: 134,801,689 (GRCm39)	E509G	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,797 (GRCm39)	S4G	probably benign	Het
Ppp5c	T	C	7: 16,742,947 (GRCm39)	S224G	probably benign	Het
Prr30	T	G	14: 101,435,879 (GRCm39)	I228L	probably benign	Het
Purg	A	G	8: 33,877,342 (GRCm39)	I327V	possibly damaging	Het
Ralb	T	C	1: 119,403,645 (GRCm39)	T161A	probably benign	Het
Ripor3	T	C	2: 167,834,733 (GRCm39)	R253G	probably benign	Het
Scgb2b6	T	C	7: 31,317,257 (GRCm39)		noncoding transcript	Het
Setd5	G	T	6: 113,128,360 (GRCm39)	G1438W	probably damaging	Het
Sh3rf3	T	A	10: 58,649,545 (GRCm39)	L50Q	possibly damaging	Het
Sipa1l2	G	T	8: 126,200,340 (GRCm39)	T662K	probably damaging	Het
Skint5	A	G	4: 113,437,725 (GRCm39)	L1021S	unknown	Het
Slc22a23	T	C	13: 34,387,924 (GRCm39)	S391G	probably benign	Het
Slc4a5	G	A	6: 83,247,999 (GRCm39)	V402I	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Spink5	A	T	18: 44,153,908 (GRCm39)	*1018C	probably null	Het
Stag3	T	A	5: 138,294,956 (GRCm39)		probably null	Het
Tmem117	T	C	15: 94,992,569 (GRCm39)	F410L	probably damaging	Het
Tmod1	A	G	4: 46,090,920 (GRCm39)	K158E	possibly damaging	Het
Tpsb2	GGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTG	17: 25,585,536 (GRCm39)		probably benign	Het
Traf4	G	A	11: 78,052,346 (GRCm39)	Q100*	probably null	Het
Trpc4	A	G	3: 54,209,639 (GRCm39)	Y668C	probably damaging	Het
Ttn	T	A	2: 76,597,927 (GRCm39)	N11335I	possibly damaging	Het
Usp39	A	T	6: 72,302,665 (GRCm39)	V463E	probably benign	Het
Vmn1r6	A	C	6: 56,979,683 (GRCm39)	Y115S	probably benign	Het
Vmn2r44	A	G	7: 8,383,300 (GRCm39)	I98T	possibly damaging	Het
Zfp462	A	G	4: 55,010,668 (GRCm39)	Y878C	probably damaging	Het
Zfp474	T	C	18: 52,771,503 (GRCm39)	I52T	possibly damaging	Het

Other mutations in Col6a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Col6a5	APN	9	105,759,882 (GRCm39)	missense	probably damaging	1.00
IGL01462:Col6a5	APN	9	105,823,274 (GRCm39)	missense	unknown
IGL01530:Col6a5	APN	9	105,792,385 (GRCm39)	splice site	probably benign
IGL01717:Col6a5	APN	9	105,817,472 (GRCm39)	missense	unknown
IGL01859:Col6a5	APN	9	105,808,160 (GRCm39)	nonsense	probably null
IGL01945:Col6a5	APN	9	105,805,489 (GRCm39)	missense	unknown
IGL01985:Col6a5	APN	9	105,814,482 (GRCm39)	missense	unknown
IGL02128:Col6a5	APN	9	105,817,093 (GRCm39)	missense	unknown
IGL02170:Col6a5	APN	9	105,805,621 (GRCm39)	missense	unknown
IGL02224:Col6a5	APN	9	105,741,534 (GRCm39)	missense	probably damaging	1.00
IGL02246:Col6a5	APN	9	105,788,306 (GRCm39)	nonsense	probably null
IGL02304:Col6a5	APN	9	105,805,613 (GRCm39)	missense	unknown
IGL02338:Col6a5	APN	9	105,755,829 (GRCm39)	missense	probably damaging	1.00
IGL02375:Col6a5	APN	9	105,783,312 (GRCm39)	missense	unknown
IGL02660:Col6a5	APN	9	105,814,085 (GRCm39)	missense	unknown
IGL02829:Col6a5	APN	9	105,811,506 (GRCm39)	missense	unknown
IGL02882:Col6a5	APN	9	105,811,520 (GRCm39)	missense	unknown
IGL02973:Col6a5	APN	9	105,803,020 (GRCm39)	missense	unknown
IGL03089:Col6a5	APN	9	105,811,038 (GRCm39)	missense	unknown
IGL03100:Col6a5	APN	9	105,814,512 (GRCm39)	missense	unknown
IGL03257:Col6a5	APN	9	105,759,072 (GRCm39)	missense	possibly damaging	0.95
FR4340:Col6a5	UTSW	9	105,811,373 (GRCm39)	missense	unknown
FR4342:Col6a5	UTSW	9	105,811,373 (GRCm39)	missense	unknown
FR4589:Col6a5	UTSW	9	105,811,373 (GRCm39)	missense	unknown
PIT4131001:Col6a5	UTSW	9	105,759,113 (GRCm39)	missense	probably damaging	0.98
R0147:Col6a5	UTSW	9	105,802,993 (GRCm39)	missense	unknown
R0549:Col6a5	UTSW	9	105,781,778 (GRCm39)	splice site	probably benign
R0622:Col6a5	UTSW	9	105,803,051 (GRCm39)	missense	unknown
R0628:Col6a5	UTSW	9	105,789,649 (GRCm39)	splice site	probably null
R0635:Col6a5	UTSW	9	105,805,805 (GRCm39)	missense	unknown
R0644:Col6a5	UTSW	9	105,825,523 (GRCm39)	critical splice donor site	probably null
R0828:Col6a5	UTSW	9	105,739,263 (GRCm39)	critical splice acceptor site	probably null
R0972:Col6a5	UTSW	9	105,817,484 (GRCm39)	missense	unknown
R1065:Col6a5	UTSW	9	105,758,982 (GRCm39)	missense	probably damaging	0.99
R1142:Col6a5	UTSW	9	105,811,516 (GRCm39)	missense	unknown
R1169:Col6a5	UTSW	9	105,774,173 (GRCm39)	splice site	probably null
R1522:Col6a5	UTSW	9	105,817,193 (GRCm39)	missense	unknown
R1646:Col6a5	UTSW	9	105,739,948 (GRCm39)	nonsense	probably null
R1719:Col6a5	UTSW	9	105,808,492 (GRCm39)	missense	unknown
R1759:Col6a5	UTSW	9	105,808,045 (GRCm39)	missense	unknown
R1780:Col6a5	UTSW	9	105,814,077 (GRCm39)	missense	unknown
R1812:Col6a5	UTSW	9	105,805,253 (GRCm39)	missense	unknown
R1838:Col6a5	UTSW	9	105,742,032 (GRCm39)	missense	probably benign	0.28
R1839:Col6a5	UTSW	9	105,742,032 (GRCm39)	missense	probably benign	0.28
R1863:Col6a5	UTSW	9	105,817,400 (GRCm39)	missense	unknown
R1900:Col6a5	UTSW	9	105,808,412 (GRCm39)	missense	unknown
R1951:Col6a5	UTSW	9	105,814,156 (GRCm39)	missense	unknown
R2024:Col6a5	UTSW	9	105,814,193 (GRCm39)	missense	unknown
R2126:Col6a5	UTSW	9	105,822,799 (GRCm39)	missense	unknown
R2319:Col6a5	UTSW	9	105,814,417 (GRCm39)	missense	unknown
R2344:Col6a5	UTSW	9	105,805,736 (GRCm39)	missense	unknown
R2483:Col6a5	UTSW	9	105,741,347 (GRCm39)	missense	probably damaging	1.00
R3176:Col6a5	UTSW	9	105,788,306 (GRCm39)	nonsense	probably null
R3276:Col6a5	UTSW	9	105,788,306 (GRCm39)	nonsense	probably null
R3438:Col6a5	UTSW	9	105,752,991 (GRCm39)	missense	possibly damaging	0.88
R3791:Col6a5	UTSW	9	105,741,868 (GRCm39)	missense	probably damaging	0.99
R3840:Col6a5	UTSW	9	105,805,810 (GRCm39)	missense	unknown
R3886:Col6a5	UTSW	9	105,808,129 (GRCm39)	missense	unknown
R3941:Col6a5	UTSW	9	105,817,033 (GRCm39)	missense	unknown
R4194:Col6a5	UTSW	9	105,823,113 (GRCm39)	missense	unknown
R4399:Col6a5	UTSW	9	105,766,164 (GRCm39)	missense	possibly damaging	0.75
R4421:Col6a5	UTSW	9	105,805,672 (GRCm39)	missense	unknown
R4450:Col6a5	UTSW	9	105,781,720 (GRCm39)	missense	unknown
R4491:Col6a5	UTSW	9	105,817,211 (GRCm39)	missense	unknown
R4582:Col6a5	UTSW	9	105,739,963 (GRCm39)	missense	probably benign	0.17
R4693:Col6a5	UTSW	9	105,814,371 (GRCm39)	missense	unknown
R4787:Col6a5	UTSW	9	105,808,280 (GRCm39)	missense	unknown
R4789:Col6a5	UTSW	9	105,814,534 (GRCm39)	missense	unknown
R4791:Col6a5	UTSW	9	105,807,983 (GRCm39)	missense	unknown
R4792:Col6a5	UTSW	9	105,807,983 (GRCm39)	missense	unknown
R4817:Col6a5	UTSW	9	105,811,497 (GRCm39)	missense	unknown
R4927:Col6a5	UTSW	9	105,811,163 (GRCm39)	missense	unknown
R4969:Col6a5	UTSW	9	105,741,806 (GRCm39)	missense	probably damaging	1.00
R5037:Col6a5	UTSW	9	105,805,337 (GRCm39)	missense	unknown
R5118:Col6a5	UTSW	9	105,814,204 (GRCm39)	missense	unknown
R5144:Col6a5	UTSW	9	105,766,482 (GRCm39)	missense	probably damaging	1.00
R5145:Col6a5	UTSW	9	105,811,444 (GRCm39)	missense	unknown
R5160:Col6a5	UTSW	9	105,808,208 (GRCm39)	missense	unknown
R5182:Col6a5	UTSW	9	105,734,531 (GRCm39)	nonsense	probably null
R5234:Col6a5	UTSW	9	105,741,404 (GRCm39)	missense	probably damaging	1.00
R5252:Col6a5	UTSW	9	105,817,489 (GRCm39)	missense	unknown
R5290:Col6a5	UTSW	9	105,823,282 (GRCm39)	missense	unknown
R5313:Col6a5	UTSW	9	105,822,743 (GRCm39)	missense	unknown
R5321:Col6a5	UTSW	9	105,805,664 (GRCm39)	missense	unknown
R5466:Col6a5	UTSW	9	105,808,282 (GRCm39)	missense	unknown
R5540:Col6a5	UTSW	9	105,739,975 (GRCm39)	missense	probably benign	0.44
R5669:Col6a5	UTSW	9	105,803,197 (GRCm39)	missense	unknown
R5789:Col6a5	UTSW	9	105,741,807 (GRCm39)	missense	possibly damaging	0.91
R5801:Col6a5	UTSW	9	105,825,566 (GRCm39)	missense	unknown
R5827:Col6a5	UTSW	9	105,805,319 (GRCm39)	nonsense	probably null
R5839:Col6a5	UTSW	9	105,822,592 (GRCm39)	critical splice donor site	probably null
R5908:Col6a5	UTSW	9	105,740,000 (GRCm39)	missense	possibly damaging	0.88
R5970:Col6a5	UTSW	9	105,823,046 (GRCm39)	missense	unknown
R6045:Col6a5	UTSW	9	105,803,117 (GRCm39)	missense	unknown
R6107:Col6a5	UTSW	9	105,769,471 (GRCm39)	nonsense	probably null
R6168:Col6a5	UTSW	9	105,752,986 (GRCm39)	critical splice donor site	probably null
R6315:Col6a5	UTSW	9	105,759,169 (GRCm39)	missense	probably damaging	1.00
R6317:Col6a5	UTSW	9	105,766,266 (GRCm39)	missense	probably damaging	1.00
R6414:Col6a5	UTSW	9	105,769,465 (GRCm39)	splice site	probably null
R6434:Col6a5	UTSW	9	105,814,544 (GRCm39)	missense	unknown
R6456:Col6a5	UTSW	9	105,822,676 (GRCm39)	missense	unknown
R6698:Col6a5	UTSW	9	105,811,374 (GRCm39)	missense	unknown
R6876:Col6a5	UTSW	9	105,814,506 (GRCm39)	missense	unknown
R6882:Col6a5	UTSW	9	105,817,469 (GRCm39)	nonsense	probably null
R6928:Col6a5	UTSW	9	105,817,118 (GRCm39)	missense	unknown
R7024:Col6a5	UTSW	9	105,789,674 (GRCm39)	nonsense	probably null
R7038:Col6a5	UTSW	9	105,822,937 (GRCm39)	missense	unknown
R7082:Col6a5	UTSW	9	105,808,438 (GRCm39)	missense	unknown
R7158:Col6a5	UTSW	9	105,741,407 (GRCm39)	missense	possibly damaging	0.90
R7211:Col6a5	UTSW	9	105,805,363 (GRCm39)	missense	unknown
R7431:Col6a5	UTSW	9	105,805,468 (GRCm39)	missense	unknown
R7440:Col6a5	UTSW	9	105,758,630 (GRCm39)	nonsense	probably null
R7502:Col6a5	UTSW	9	105,753,075 (GRCm39)	missense	probably benign	0.05
R7577:Col6a5	UTSW	9	105,741,887 (GRCm39)	nonsense	probably null
R7582:Col6a5	UTSW	9	105,822,625 (GRCm39)	missense	unknown
R7641:Col6a5	UTSW	9	105,758,625 (GRCm39)	nonsense	probably null
R7762:Col6a5	UTSW	9	105,808,523 (GRCm39)	missense	unknown
R7793:Col6a5	UTSW	9	105,775,934 (GRCm39)	missense	probably damaging	1.00
R7821:Col6a5	UTSW	9	105,741,458 (GRCm39)	missense	probably damaging	1.00
R7848:Col6a5	UTSW	9	105,805,385 (GRCm39)	missense	unknown
R7897:Col6a5	UTSW	9	105,766,382 (GRCm39)	missense	possibly damaging	0.96
R7904:Col6a5	UTSW	9	105,805,720 (GRCm39)	missense	unknown
R7960:Col6a5	UTSW	9	105,823,049 (GRCm39)	missense	unknown
R8015:Col6a5	UTSW	9	105,758,940 (GRCm39)	missense	possibly damaging	0.65
R8100:Col6a5	UTSW	9	105,755,839 (GRCm39)	missense	probably damaging	1.00
R8131:Col6a5	UTSW	9	105,778,815 (GRCm39)	missense	unknown
R8418:Col6a5	UTSW	9	105,755,821 (GRCm39)	missense	probably damaging	1.00
R8425:Col6a5	UTSW	9	105,823,156 (GRCm39)	missense	unknown
R8678:Col6a5	UTSW	9	105,811,551 (GRCm39)	missense	unknown
R8690:Col6a5	UTSW	9	105,759,796 (GRCm39)	missense	probably damaging	0.97
R8847:Col6a5	UTSW	9	105,741,472 (GRCm39)	missense	possibly damaging	0.81
R8946:Col6a5	UTSW	9	105,822,833 (GRCm39)	missense	unknown
R8947:Col6a5	UTSW	9	105,822,833 (GRCm39)	missense	unknown
R8949:Col6a5	UTSW	9	105,822,833 (GRCm39)	missense	unknown
R8950:Col6a5	UTSW	9	105,822,833 (GRCm39)	missense	unknown
R9089:Col6a5	UTSW	9	105,766,142 (GRCm39)	missense	probably damaging	1.00
R9118:Col6a5	UTSW	9	105,755,853 (GRCm39)	splice site	probably benign
R9169:Col6a5	UTSW	9	105,822,596 (GRCm39)	missense	unknown
R9177:Col6a5	UTSW	9	105,808,152 (GRCm39)	missense	unknown
R9180:Col6a5	UTSW	9	105,739,178 (GRCm39)	missense	probably damaging	0.99
R9205:Col6a5	UTSW	9	105,755,837 (GRCm39)	missense	probably damaging	1.00
R9214:Col6a5	UTSW	9	105,758,940 (GRCm39)	missense	possibly damaging	0.65
R9224:Col6a5	UTSW	9	105,814,594 (GRCm39)	missense	unknown
R9279:Col6a5	UTSW	9	105,758,976 (GRCm39)	missense	probably damaging	1.00
R9383:Col6a5	UTSW	9	105,803,110 (GRCm39)	missense	unknown
R9427:Col6a5	UTSW	9	105,816,992 (GRCm39)	missense	unknown
R9488:Col6a5	UTSW	9	105,741,788 (GRCm39)	missense	probably damaging	1.00
R9494:Col6a5	UTSW	9	105,822,732 (GRCm39)	missense	unknown
R9659:Col6a5	UTSW	9	105,811,034 (GRCm39)	missense	unknown
R9749:Col6a5	UTSW	9	105,739,190 (GRCm39)	missense	probably damaging	0.98
RF013:Col6a5	UTSW	9	105,755,796 (GRCm39)	frame shift	probably null
X0054:Col6a5	UTSW	9	105,792,357 (GRCm39)	missense	unknown
X0058:Col6a5	UTSW	9	105,758,977 (GRCm39)	nonsense	probably null
Z1088:Col6a5	UTSW	9	105,803,266 (GRCm39)	missense	unknown
Z1177:Col6a5	UTSW	9	105,807,984 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCAAAGTCCAATGATGCTGG -3'
(R):5'- ACAGTCTCCCCATCTAGATAGC -3'

Sequencing Primer
(F):5'- GTCCAATGATGCTGGATTAGTAACAG -3'
(R):5'- CCCCATCTAGATAGCTTTTGAGAAAC -3'

Posted On

2016-03-01