Mutagenetix > Incidental Mutation

Incidental Mutation 'R3791:Col6a5'

272541

Institutional Source

Beutler Lab

Gene Symbol

Col6a5

Ensembl Gene

ENSMUSG00000091345

Gene Name

collagen, type VI, alpha 5

Synonyms

Gm7455, Col6a5

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R3791 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105733277-105837842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 105741868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 2350 (D2350E)

Ref Sequence

ENSEMBL: ENSMUSP00000139398 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000165165
AA Change: D2350E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131146
Gene: ENSMUSG00000091345
AA Change: D2350E

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 damaging
Transcript: ENSMUST00000190193
AA Change: D2350E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139398
Gene: ENSMUSG00000091345
AA Change: D2350E

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 93.9%

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	AGGTGGTGGTGGTGGTGGTGGTGG	AGGTGGTGGTGGTGGTGGTGG	6: 132,603,479 (GRCm39)		probably benign	Het
A930009A15Rik	A	T	10: 115,414,194 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,741,221 (GRCm39)	Y81C	probably damaging	Het
Alx3	A	T	3: 107,508,022 (GRCm39)	Y177F	probably damaging	Het
C6	A	G	15: 4,764,717 (GRCm39)	T138A	probably benign	Het
Cacna2d3	T	C	14: 28,905,538 (GRCm39)	M410V	probably benign	Het
Ccn4	A	G	15: 66,791,137 (GRCm39)	Y313C	probably damaging	Het
Celsr3	G	A	9: 108,719,751 (GRCm39)	R2450H	probably benign	Het
Cnrip1	C	T	11: 17,004,845 (GRCm39)		probably benign	Het
Cyp4a12b	A	G	4: 115,292,167 (GRCm39)	I407V	probably benign	Het
Gpx4	A	G	10: 79,892,023 (GRCm39)	I245V	probably benign	Het
H2-K2	A	G	17: 34,218,499 (GRCm39)	I139T	probably benign	Het
Hmgcl	A	G	4: 135,687,298 (GRCm39)	K191R	probably benign	Het
Hpdl	A	G	4: 116,677,729 (GRCm39)	V244A	possibly damaging	Het
Hpse	A	G	5: 100,840,104 (GRCm39)	S338P	probably damaging	Het
Ifi203	T	C	1: 173,762,646 (GRCm39)	K162R	possibly damaging	Het
Kit	A	G	5: 75,799,810 (GRCm39)	N514S	probably damaging	Het
Kmt2d	G	A	15: 98,742,030 (GRCm39)		probably benign	Het
Limd1	T	A	9: 123,309,439 (GRCm39)	S379R	possibly damaging	Het
Llph	A	G	10: 120,064,060 (GRCm39)	K59E	probably benign	Het
Lrrc7	T	A	3: 157,869,593 (GRCm39)	M709L	probably benign	Het
Muc5ac	A	G	7: 141,352,238 (GRCm39)	S665G	probably benign	Het
Ncapd3	C	T	9: 26,963,931 (GRCm39)	H524Y	probably benign	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Or51s1	T	C	7: 102,558,239 (GRCm39)	D269G	probably benign	Het
Phtf2	T	C	5: 20,987,296 (GRCm39)	E400G	probably damaging	Het
Pkd1l3	T	C	8: 110,362,949 (GRCm39)	V1080A	probably damaging	Het
Plch1	A	T	3: 63,606,944 (GRCm39)	H1007Q	probably benign	Het
Prr5	T	C	15: 84,565,417 (GRCm39)	S3P	probably damaging	Het
Qtrt1	G	A	9: 21,330,636 (GRCm39)	D279N	probably damaging	Het
Rundc1	G	A	11: 101,325,027 (GRCm39)	A578T	probably damaging	Het
Shc4	A	T	2: 125,565,251 (GRCm39)	V16E	probably damaging	Het
Sik3	A	T	9: 46,106,120 (GRCm39)	L329F	possibly damaging	Het
Slc36a3	A	G	11: 55,015,982 (GRCm39)	S391P	possibly damaging	Het
Smad1	C	A	8: 80,066,399 (GRCm39)	R426L	probably damaging	Het
Tent4b	G	A	8: 88,969,957 (GRCm39)	E210K	probably damaging	Het
Thrap3	A	T	4: 126,061,293 (GRCm39)	N820K	possibly damaging	Het
Tnrc6b	T	C	15: 80,807,841 (GRCm39)	S1598P	probably damaging	Het
Ttn	T	C	2: 76,545,168 (GRCm39)	I32645V	probably damaging	Het
Zfp266	A	C	9: 20,410,777 (GRCm39)	Y467D	probably damaging	Het
Zfp526	T	A	7: 24,925,628 (GRCm39)	M629K	probably damaging	Het
Zfp788	A	T	7: 41,299,152 (GRCm39)	H596L	probably damaging	Het
Zhx3	A	G	2: 160,622,368 (GRCm39)	W600R	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
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
R4854:Col6a5	UTSW	9	105,775,950 (GRCm39)	missense	probably benign	0.18
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'- AACTGTCCACTGAAGGGCATG -3'
(R):5'- CTGTTGCAGAACATGAAAGTCATGG -3'

Sequencing Primer
(F):5'- TCACCATTGAGCTGCTGAAG -3'
(R):5'- GCAGAGAAGAACTGGGTCTTGC -3'

Posted On

2015-03-25