Mutagenetix > Incidental Mutation

Incidental Mutation 'R4516:Col6a6'

332921

Institutional Source

Beutler Lab

Gene Symbol

Col6a6

Ensembl Gene

ENSMUSG00000043719

Gene Name

collagen, type VI, alpha 6

Synonyms

E330026B02Rik

MMRRC Submission

041760-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R4516 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105687809-105828160 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105698949 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 2071 (V2071I)

Ref Sequence

ENSEMBL: ENSMUSP00000125765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098441] [ENSMUST00000166431]

AlphaFold

Q8C6K9

Predicted Effect

probably benign
Transcript: ENSMUST00000098441
AA Change: V2071I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719
AA Change: V2071I

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
VWA	24	197	4.26e-26	SMART
VWA	226	407	1.06e-30	SMART
VWA	433	610	5.19e-39	SMART
VWA	619	795	3.58e-42	SMART
VWA	806	982	6.64e-37	SMART
VWA	997	1175	2.7e-37	SMART
VWA	1184	1370	3.45e-1	SMART
Pfam:Collagen	1389	1450	3.3e-9	PFAM
low complexity region	1451	1475	N/A	INTRINSIC
low complexity region	1490	1508	N/A	INTRINSIC
low complexity region	1602	1623	N/A	INTRINSIC
low complexity region	1698	1724	N/A	INTRINSIC
VWA	1754	1937	1.73e-17	SMART
VWA	1962	2145	4.4e-19	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166431
AA Change: V2071I

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719
AA Change: V2071I

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
VWA	24	197	4.26e-26	SMART
VWA	226	407	1.06e-30	SMART
VWA	433	610	5.19e-39	SMART
VWA	619	795	3.58e-42	SMART
VWA	806	982	6.64e-37	SMART
VWA	997	1175	2.7e-37	SMART
VWA	1184	1370	3.45e-1	SMART
Pfam:Collagen	1389	1450	9.3e-10	PFAM
low complexity region	1451	1475	N/A	INTRINSIC
low complexity region	1490	1508	N/A	INTRINSIC
low complexity region	1602	1623	N/A	INTRINSIC
low complexity region	1698	1724	N/A	INTRINSIC
VWA	1754	1937	1.73e-17	SMART
VWA	1962	2145	4.4e-19	SMART

Meta Mutation Damage Score

0.0978

Coding Region Coverage

1x: 99.4%
3x: 98.5%
10x: 96.6%
20x: 92.9%

Validation Efficiency

86% (51/59)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bean1	T	C	8: 104,215,154 (GRCm38)	S211P	probably damaging	Het
Bltp1	T	C	3: 36,895,311 (GRCm38)	S369P	possibly damaging	Het
Camta1	A	G	4: 151,144,720 (GRCm38)	S552P	possibly damaging	Het
Cdh11	T	C	8: 102,673,962 (GRCm38)	T125A	possibly damaging	Het
Cdk5rap2	A	T	4: 70,276,715 (GRCm38)		probably null	Het
Cenpc1	A	G	5: 86,047,587 (GRCm38)	S108P	possibly damaging	Het
Cfap20dc	A	T	14: 8,536,609 (GRCm38)	D199E	probably damaging	Het
Cfap44	T	A	16: 44,473,864 (GRCm38)	Y224*	probably null	Het
Cfap46	G	A	7: 139,660,082 (GRCm38)		probably benign	Het
Cntrl	G	A	2: 35,127,981 (GRCm38)	V468I	probably benign	Het
Coq7	A	T	7: 118,509,907 (GRCm38)	L306Q	unknown	Het
D7Ertd443e	C	G	7: 134,293,328 (GRCm38)	Q591H	probably damaging	Het
Dchs1	C	T	7: 105,754,852 (GRCm38)	V2828M	probably damaging	Het
Dzank1	T	A	2: 144,510,122 (GRCm38)		probably benign	Het
Elmo1	C	T	13: 20,282,914 (GRCm38)	T235I	probably benign	Het
Elp3	A	T	14: 65,547,877 (GRCm38)	F492I	possibly damaging	Het
Espl1	A	G	15: 102,323,236 (GRCm38)	S90G	probably benign	Het
Fbxl20	T	C	11: 98,095,235 (GRCm38)		probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm38)	C6R	probably benign	Het
Got1	T	C	19: 43,504,841 (GRCm38)	Y243C	probably damaging	Het
Hipk1	G	T	3: 103,750,372 (GRCm38)	H799N	probably damaging	Het
Kif21a	A	T	15: 90,971,142 (GRCm38)	M673K	probably benign	Het
Lama3	T	A	18: 12,495,358 (GRCm38)	D1502E	probably damaging	Het
Limk1	A	G	5: 134,676,786 (GRCm38)		probably benign	Het
Myo5b	A	G	18: 74,625,674 (GRCm38)	Y242C	probably damaging	Het
Naa12	G	A	18: 80,211,576 (GRCm38)	M28I	probably benign	Het
Ncbp1	T	C	4: 46,157,824 (GRCm38)	V354A	probably damaging	Het
Ncoa2	T	C	1: 13,146,906 (GRCm38)	D1380G	probably damaging	Het
Ntng1	A	G	3: 109,935,013 (GRCm38)	I148T	probably damaging	Het
Oas1d	A	T	5: 120,919,170 (GRCm38)	T280S	probably damaging	Het
Or1e29	C	T	11: 73,777,040 (GRCm38)	G96S	probably benign	Het
Or4c15b	T	A	2: 89,282,843 (GRCm38)	M118L	probably benign	Het
Pax7	T	G	4: 139,780,793 (GRCm38)	D307A	probably benign	Het
Pdxdc1	G	A	16: 13,838,346 (GRCm38)	Q621*	probably null	Het
Rab29	A	T	1: 131,867,731 (GRCm38)	Y27F	possibly damaging	Het
Rab3gap2	G	A	1: 185,267,068 (GRCm38)	V991I	probably benign	Het
Ric1	A	G	19: 29,570,765 (GRCm38)	T278A	probably benign	Het
Rufy4	T	C	1: 74,147,663 (GRCm38)	C537R	probably damaging	Het
Slc47a1	T	C	11: 61,344,513 (GRCm38)	H498R	probably benign	Het
Spmip6	T	C	4: 41,517,200 (GRCm38)		probably benign	Het
Tas2r116	T	C	6: 132,856,150 (GRCm38)	L238P	probably damaging	Het
Tigd5	A	T	15: 75,910,515 (GRCm38)	R252*	probably null	Het
Tlr6	A	G	5: 64,954,904 (GRCm38)	F220S	possibly damaging	Het
Tmem106b	C	T	6: 13,075,099 (GRCm38)	T95I	probably damaging	Het
Ubqlnl	C	T	7: 104,149,718 (GRCm38)	V191M	probably benign	Het
Vmn1r174	A	G	7: 23,754,343 (GRCm38)	I145V	probably benign	Het
Vps26a	T	C	10: 62,468,345 (GRCm38)	M116V	probably damaging	Het

Other mutations in Col6a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Col6a6	APN	9	105,758,191 (GRCm38)	critical splice acceptor site	probably null
IGL00768:Col6a6	APN	9	105,782,412 (GRCm38)	missense	probably benign	0.04
IGL00917:Col6a6	APN	9	105,784,254 (GRCm38)	splice site	probably benign
IGL01385:Col6a6	APN	9	105,783,666 (GRCm38)	missense	probably damaging	1.00
IGL01411:Col6a6	APN	9	105,785,958 (GRCm38)	nonsense	probably null
IGL01508:Col6a6	APN	9	105,727,166 (GRCm38)	splice site	probably benign
IGL01668:Col6a6	APN	9	105,709,271 (GRCm38)	missense	probably damaging	1.00
IGL01733:Col6a6	APN	9	105,709,255 (GRCm38)	missense	possibly damaging	0.92
IGL01932:Col6a6	APN	9	105,689,626 (GRCm38)	missense	probably benign	0.02
IGL01934:Col6a6	APN	9	105,698,659 (GRCm38)	critical splice donor site	probably null
IGL01944:Col6a6	APN	9	105,783,909 (GRCm38)	missense	probably damaging	1.00
IGL01980:Col6a6	APN	9	105,780,985 (GRCm38)	missense	probably damaging	0.96
IGL02114:Col6a6	APN	9	105,767,199 (GRCm38)	critical splice donor site	probably null
IGL02129:Col6a6	APN	9	105,736,340 (GRCm38)	splice site	probably benign
IGL02201:Col6a6	APN	9	105,780,995 (GRCm38)	missense	probably damaging	1.00
IGL02335:Col6a6	APN	9	105,784,101 (GRCm38)	missense	probably damaging	1.00
IGL02541:Col6a6	APN	9	105,732,216 (GRCm38)	missense	probably benign	0.05
IGL02574:Col6a6	APN	9	105,782,191 (GRCm38)	missense	probably damaging	1.00
IGL02649:Col6a6	APN	9	105,727,170 (GRCm38)	critical splice donor site	probably null
IGL02852:Col6a6	APN	9	105,784,073 (GRCm38)	missense	probably damaging	0.99
IGL03278:Col6a6	APN	9	105,709,452 (GRCm38)	missense	probably benign	0.01
IGL03327:Col6a6	APN	9	105,767,234 (GRCm38)	missense	possibly damaging	0.90
PIT4519001:Col6a6	UTSW	9	105,732,263 (GRCm38)	missense	probably benign	0.23
R0042:Col6a6	UTSW	9	105,780,697 (GRCm38)	missense	possibly damaging	0.89
R0046:Col6a6	UTSW	9	105,748,848 (GRCm38)	splice site	probably benign
R0066:Col6a6	UTSW	9	105,702,213 (GRCm38)	missense	probably damaging	0.99
R0066:Col6a6	UTSW	9	105,702,213 (GRCm38)	missense	probably damaging	0.99
R0140:Col6a6	UTSW	9	105,702,275 (GRCm38)	missense	probably damaging	1.00
R0278:Col6a6	UTSW	9	105,767,288 (GRCm38)	missense	possibly damaging	0.87
R0281:Col6a6	UTSW	9	105,784,116 (GRCm38)	missense	probably benign	0.13
R0382:Col6a6	UTSW	9	105,755,555 (GRCm38)	missense	probably damaging	0.98
R0389:Col6a6	UTSW	9	105,784,204 (GRCm38)	missense	probably benign	0.02
R0421:Col6a6	UTSW	9	105,784,206 (GRCm38)	missense	probably benign	0.02
R0502:Col6a6	UTSW	9	105,767,351 (GRCm38)	missense	probably benign	0.04
R0503:Col6a6	UTSW	9	105,767,351 (GRCm38)	missense	probably benign	0.04
R0600:Col6a6	UTSW	9	105,761,440 (GRCm38)	missense	probably damaging	1.00
R0626:Col6a6	UTSW	9	105,777,744 (GRCm38)	missense	probably benign	0.45
R0629:Col6a6	UTSW	9	105,727,165 (GRCm38)	splice site	probably benign
R0690:Col6a6	UTSW	9	105,709,486 (GRCm38)	missense	probably benign	0.01
R1155:Col6a6	UTSW	9	105,782,090 (GRCm38)	missense	possibly damaging	0.64
R1245:Col6a6	UTSW	9	105,748,910 (GRCm38)	missense	possibly damaging	0.62
R1253:Col6a6	UTSW	9	105,774,303 (GRCm38)	missense	probably null	0.98
R1263:Col6a6	UTSW	9	105,709,489 (GRCm38)	missense	probably benign	0.01
R1296:Col6a6	UTSW	9	105,781,091 (GRCm38)	missense	probably damaging	1.00
R1556:Col6a6	UTSW	9	105,709,473 (GRCm38)	missense	possibly damaging	0.82
R1600:Col6a6	UTSW	9	105,778,075 (GRCm38)	missense	probably damaging	1.00
R1612:Col6a6	UTSW	9	105,777,549 (GRCm38)	missense	probably damaging	1.00
R1613:Col6a6	UTSW	9	105,732,211 (GRCm38)	critical splice donor site	probably null
R1830:Col6a6	UTSW	9	105,702,270 (GRCm38)	missense	probably damaging	0.99
R1858:Col6a6	UTSW	9	105,781,102 (GRCm38)	missense	probably damaging	1.00
R1897:Col6a6	UTSW	9	105,785,744 (GRCm38)	missense	possibly damaging	0.74
R1944:Col6a6	UTSW	9	105,709,384 (GRCm38)	missense	probably damaging	1.00
R2366:Col6a6	UTSW	9	105,755,694 (GRCm38)	missense	probably damaging	1.00
R2484:Col6a6	UTSW	9	105,780,804 (GRCm38)	missense	probably damaging	0.98
R3079:Col6a6	UTSW	9	105,754,223 (GRCm38)	missense	probably benign	0.01
R3176:Col6a6	UTSW	9	105,786,230 (GRCm38)	missense	probably benign	0.01
R3276:Col6a6	UTSW	9	105,786,230 (GRCm38)	missense	probably benign	0.01
R3429:Col6a6	UTSW	9	105,777,967 (GRCm38)	missense	probably damaging	1.00
R3716:Col6a6	UTSW	9	105,782,174 (GRCm38)	missense	probably damaging	0.98
R3809:Col6a6	UTSW	9	105,780,692 (GRCm38)	missense	probably damaging	1.00
R3978:Col6a6	UTSW	9	105,698,879 (GRCm38)	missense	probably damaging	0.98
R4087:Col6a6	UTSW	9	105,783,956 (GRCm38)	missense	possibly damaging	0.68
R4382:Col6a6	UTSW	9	105,783,690 (GRCm38)	missense	probably damaging	1.00
R4666:Col6a6	UTSW	9	105,767,342 (GRCm38)	missense	possibly damaging	0.93
R4905:Col6a6	UTSW	9	105,767,424 (GRCm38)	missense	probably damaging	1.00
R4923:Col6a6	UTSW	9	105,788,948 (GRCm38)	missense	probably damaging	1.00
R4951:Col6a6	UTSW	9	105,767,198 (GRCm38)	critical splice donor site	probably null
R5002:Col6a6	UTSW	9	105,786,093 (GRCm38)	missense	probably benign	0.00
R5111:Col6a6	UTSW	9	105,709,474 (GRCm38)	missense	possibly damaging	0.70
R5205:Col6a6	UTSW	9	105,782,033 (GRCm38)	missense	probably damaging	0.99
R5399:Col6a6	UTSW	9	105,709,107 (GRCm38)	missense	possibly damaging	0.50
R5475:Col6a6	UTSW	9	105,774,338 (GRCm38)	missense	probably null	0.79
R5491:Col6a6	UTSW	9	105,738,236 (GRCm38)	missense	probably damaging	0.98
R5758:Col6a6	UTSW	9	105,761,518 (GRCm38)	critical splice acceptor site	probably null
R5934:Col6a6	UTSW	9	105,767,075 (GRCm38)	missense	probably damaging	1.00
R6059:Col6a6	UTSW	9	105,783,917 (GRCm38)	missense	probably damaging	1.00
R6284:Col6a6	UTSW	9	105,727,227 (GRCm38)	splice site	probably null
R6425:Col6a6	UTSW	9	105,698,865 (GRCm38)	missense	probably benign	0.21
R6464:Col6a6	UTSW	9	105,788,953 (GRCm38)	start codon destroyed	probably null	0.60
R6469:Col6a6	UTSW	9	105,698,691 (GRCm38)	missense	probably damaging	0.97
R6520:Col6a6	UTSW	9	105,785,825 (GRCm38)	missense	possibly damaging	0.89
R6552:Col6a6	UTSW	9	105,698,913 (GRCm38)	missense	probably damaging	1.00
R6750:Col6a6	UTSW	9	105,783,680 (GRCm38)	missense	probably damaging	1.00
R6813:Col6a6	UTSW	9	105,783,941 (GRCm38)	missense	probably benign	0.32
R7032:Col6a6	UTSW	9	105,767,508 (GRCm38)	missense	probably damaging	0.96
R7260:Col6a6	UTSW	9	105,783,969 (GRCm38)	missense	probably benign	0.00
R7472:Col6a6	UTSW	9	105,782,423 (GRCm38)	missense	probably damaging	1.00
R7541:Col6a6	UTSW	9	105,767,324 (GRCm38)	missense	probably damaging	1.00
R7640:Col6a6	UTSW	9	105,785,744 (GRCm38)	missense	possibly damaging	0.74
R7645:Col6a6	UTSW	9	105,767,198 (GRCm38)	critical splice donor site	probably null
R7716:Col6a6	UTSW	9	105,783,903 (GRCm38)	missense	possibly damaging	0.84
R7866:Col6a6	UTSW	9	105,689,561 (GRCm38)	missense	probably damaging	0.96
R7938:Col6a6	UTSW	9	105,780,684 (GRCm38)	nonsense	probably null
R8016:Col6a6	UTSW	9	105,767,528 (GRCm38)	missense	possibly damaging	0.73
R8043:Col6a6	UTSW	9	105,699,020 (GRCm38)	missense	probably damaging	0.98
R8073:Col6a6	UTSW	9	105,781,947 (GRCm38)	missense	probably benign	0.01
R8082:Col6a6	UTSW	9	105,783,930 (GRCm38)	nonsense	probably null
R8243:Col6a6	UTSW	9	105,699,269 (GRCm38)	missense	probably damaging	1.00
R8306:Col6a6	UTSW	9	105,784,073 (GRCm38)	missense	probably damaging	0.96
R8324:Col6a6	UTSW	9	105,755,654 (GRCm38)	missense	probably benign	0.25
R8384:Col6a6	UTSW	9	105,755,694 (GRCm38)	missense	probably damaging	1.00
R8400:Col6a6	UTSW	9	105,774,796 (GRCm38)	missense	probably damaging	1.00
R8523:Col6a6	UTSW	9	105,774,788 (GRCm38)	missense	possibly damaging	0.71
R8842:Col6a6	UTSW	9	105,777,967 (GRCm38)	missense	probably damaging	1.00
R8862:Col6a6	UTSW	9	105,786,149 (GRCm38)	missense	probably damaging	1.00
R8907:Col6a6	UTSW	9	105,767,329 (GRCm38)	missense	probably damaging	0.99
R9021:Col6a6	UTSW	9	105,709,546 (GRCm38)	missense	possibly damaging	0.85
R9088:Col6a6	UTSW	9	105,784,077 (GRCm38)	missense	probably damaging	0.99
R9178:Col6a6	UTSW	9	105,781,970 (GRCm38)	missense	probably benign	0.30
R9225:Col6a6	UTSW	9	105,782,238 (GRCm38)	missense	possibly damaging	0.75
R9340:Col6a6	UTSW	9	105,774,558 (GRCm38)	missense	probably damaging	1.00
R9342:Col6a6	UTSW	9	105,785,973 (GRCm38)	missense	probably benign	0.00
R9360:Col6a6	UTSW	9	105,767,487 (GRCm38)	missense	probably benign	0.00
R9368:Col6a6	UTSW	9	105,786,101 (GRCm38)	missense	possibly damaging	0.48
R9398:Col6a6	UTSW	9	105,774,626 (GRCm38)	missense	probably benign	0.40
R9450:Col6a6	UTSW	9	105,784,174 (GRCm38)	missense	probably benign
R9454:Col6a6	UTSW	9	105,783,860 (GRCm38)	missense	probably damaging	0.99
R9458:Col6a6	UTSW	9	105,709,162 (GRCm38)	missense	probably benign	0.01
R9563:Col6a6	UTSW	9	105,695,753 (GRCm38)	missense	probably benign	0.02
R9568:Col6a6	UTSW	9	105,780,727 (GRCm38)	missense	possibly damaging	0.58
R9613:Col6a6	UTSW	9	105,739,202 (GRCm38)	missense	probably benign	0.07
R9664:Col6a6	UTSW	9	105,781,055 (GRCm38)	missense	probably benign	0.11
R9747:Col6a6	UTSW	9	105,784,040 (GRCm38)	missense	probably benign	0.29
R9760:Col6a6	UTSW	9	105,782,054 (GRCm38)	missense	probably damaging	0.99
X0022:Col6a6	UTSW	9	105,699,332 (GRCm38)	missense	probably damaging	1.00
Z1176:Col6a6	UTSW	9	105,780,952 (GRCm38)	missense	probably damaging	1.00
Z1177:Col6a6	UTSW	9	105,788,895 (GRCm38)	missense	probably null	0.24
Z1177:Col6a6	UTSW	9	105,728,255 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTCCTTGTCATCCCAGTCAGG -3'
(R):5'- GGCACTGCTAGATCACTTCG -3'

Sequencing Primer
(F):5'- TCAGGGCCCAAGGAAAAGAC -3'
(R):5'- GGCACTGCTAGATCACTTCGAAATC -3'

Posted On

2015-08-18