Mutagenetix > Incidental Mutation

Incidental Mutation 'R7716:Col6a6'

594930

Institutional Source

Beutler Lab

Gene Symbol

Col6a6

Ensembl Gene

ENSMUSG00000043719

Gene Name

collagen, type VI, alpha 6

Synonyms

E330026B02Rik

MMRRC Submission

045774-MU

Accession Numbers

Essential gene?

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

Stock #

R7716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105687809-105828160 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 105783903 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 336 (V336L)

Ref Sequence

ENSEMBL: ENSMUSP00000060840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060896] [ENSMUST00000098441] [ENSMUST00000166431]

AlphaFold

Q8C6K9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060896
AA Change: V336L

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000060840
Gene: ENSMUSG00000043719
AA Change: V336L

Domain	Start	End	E-Value	Type
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

Predicted Effect

probably damaging
Transcript: ENSMUST00000098441
AA Change: V336L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719
AA Change: V336L

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: V336L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719
AA Change: V336L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,869,829	C41Y	possibly damaging	Het
3110062M04Rik	T	C	6: 34,875,581	N60D	possibly damaging	Het
Abcg1	A	G	17: 31,109,519	I421V	probably benign	Het
Ank2	G	T	3: 126,943,166	T3023K	unknown	Het
Asb5	T	A	8: 54,584,986	H181Q	probably benign	Het
Asnsd1	C	T	1: 53,347,743	V242I	probably benign	Het
Atp2a1	C	A	7: 126,462,187	G46V	possibly damaging	Het
Birc6	A	G	17: 74,562,061	S335G	probably damaging	Het
Bmp1	A	T	14: 70,477,922	Y924*	probably null	Het
Ccdc3	T	A	2: 5,138,302	F123L	probably benign	Het
Cpe	T	C	8: 64,611,397	Y256C	probably damaging	Het
Creb1	T	A	1: 64,566,261	D62E	possibly damaging	Het
Cyp4a32	T	A	4: 115,601,086	Y38N	probably damaging	Het
Dnajc1	A	G	2: 18,219,873	S390P	probably benign	Het
E430018J23Rik	T	A	7: 127,392,087	M243L	probably benign	Het
Edrf1	G	A	7: 133,643,726	E198K	probably damaging	Het
Ehmt1	A	G	2: 24,884,499	S98P	probably damaging	Het
Emsy	G	A	7: 98,599,766	A812V	unknown	Het
Eppk1	A	T	15: 76,107,503	L1726*	probably null	Het
Flnb	G	T	14: 7,917,274	K1584N	possibly damaging	Het
Gclc	C	T	9: 77,754,927	R40W	probably damaging	Het
Gm5065	T	C	7: 5,359,820	I150T	possibly damaging	Het
Gnpat	A	G	8: 124,876,934	R194G	probably benign	Het
Gpd1	G	A	15: 99,722,086	S255N	probably damaging	Het
Il17re	T	C	6: 113,462,969		probably null	Het
Inpp5d	G	A	1: 87,665,399	V74I	probably damaging	Het
Iqcb1	T	C	16: 36,867,607	S443P	probably benign	Het
Irak2	AC	ACC	6: 113,690,898		probably null	Het
Kansl1l	A	G	1: 66,801,133	V336A	probably damaging	Het
Klhdc4	T	A	8: 121,829,420	M21L	unknown	Het
Lrguk	C	T	6: 34,095,539	A588V	probably damaging	Het
March5	T	C	19: 37,220,423	Y164H	probably benign	Het
Mbip	T	A	12: 56,345,688	H38L	probably benign	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,293,999		probably benign	Het
Myh8	A	T	11: 67,298,652	Q1218L	possibly damaging	Het
Ndc80	A	T	17: 71,523,594	I56K	probably benign	Het
Ndufs1	T	C	1: 63,152,857	D437G	possibly damaging	Het
Nlrc4	A	G	17: 74,446,656	L244P	probably damaging	Het
Olfr304	A	T	7: 86,386,054	M202K	probably benign	Het
Olfr745	A	G	14: 50,642,358	T20A	probably benign	Het
Pdc	A	C	1: 150,330,783	D40A	probably benign	Het
Pdzd2	T	C	15: 12,373,374	Y2225C	possibly damaging	Het
Plce1	G	T	19: 38,716,851	G900V	probably benign	Het
Plpp1	T	G	13: 112,859,652	F168C	probably damaging	Het
Plpp1	A	T	13: 112,856,789	H86L	probably benign	Het
Pms1	G	A	1: 53,207,608	P312S	probably damaging	Het
Prf1	G	A	10: 61,300,155	R70H	possibly damaging	Het
Pygo1	A	G	9: 72,942,926	D19G	probably damaging	Het
Sdr42e1	T	A	8: 117,673,647		probably benign	Het
Serpinb8	C	T	1: 107,604,708	R177*	probably null	Het
Serpini1	A	C	3: 75,616,714	S210R	probably damaging	Het
Slc29a4	C	T	5: 142,718,506	P305L	probably benign	Het
Smco3	T	A	6: 136,831,249	Y209F	probably damaging	Het
Smtn	C	G	11: 3,524,708	S216T	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Sri	T	A	5: 8,056,641		probably null	Het
Strn	G	A	17: 78,655,775	P716L	probably damaging	Het
Tmem167b	T	C	3: 108,558,897	Y69C	probably damaging	Het
Trpc7	A	T	13: 56,789,760	F628I	probably damaging	Het
Trrap	T	A	5: 144,777,146	I65N	possibly damaging	Het
Tspan14	C	A	14: 40,911,133	G201C	probably damaging	Het
Tti1	T	A	2: 158,000,698	I804F	probably benign	Het
Unc5b	C	T	10: 60,777,438	G340R	probably damaging	Het
Usp13	C	A	3: 32,837,856	Y61*	probably null	Het
Vmn1r230	T	C	17: 20,846,882	M111T	possibly damaging	Het
Vmn2r26	T	A	6: 124,061,745	Y760N	probably damaging	Het
Vmn2r87	A	G	10: 130,472,149	V740A	probably benign	Het
Zbtb14	A	G	17: 69,387,420	I38V	probably benign	Het
Zfp623	T	C	15: 75,948,422	I409T	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
R4516:Col6a6	UTSW	9	105,698,949 (GRCm38)	missense	possibly damaging	0.64
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
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'- TCCGCAGTTTCTTCAGGAAC -3'
(R):5'- GAGACAAGGGTGATCAGCTC -3'

Sequencing Primer
(F):5'- CGCAGTTTCTTCAGGAACGTCTG -3'
(R):5'- TCTCTGAGCACGGGTAACAAC -3'

Posted On

2019-11-12