Mutagenetix > Incidental Mutation

Incidental Mutation 'R7541:Col6a6'

583898

Institutional Source

Beutler Lab

Gene Symbol

Col6a6

Ensembl Gene

ENSMUSG00000043719

Gene Name

collagen, type VI, alpha 6

Synonyms

E330026B02Rik

MMRRC Submission

045613-MU

Accession Numbers

Essential gene?

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

Stock #

R7541 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105687809-105828160 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105767324 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1255 (I1255T)

Ref Sequence

ENSEMBL: ENSMUSP00000096040 (fasta)

Gene Model

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

AlphaFold

Q8C6K9

Predicted Effect

probably damaging
Transcript: ENSMUST00000098441
AA Change: I1255T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719
AA Change: I1255T

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

probably benign
Transcript: ENSMUST00000166431
AA Change: I1255T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719
AA Change: I1255T

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	G	A	2: 155,574,690 (GRCm38)		probably null	Het
Adamts10	G	A	17: 33,531,616 (GRCm38)	R210H	probably benign	Het
Als2	T	C	1: 59,167,616 (GRCm38)		probably null	Het
Aplp2	A	T	9: 31,152,356 (GRCm38)	M652K	possibly damaging	Het
Atrn	A	G	2: 130,961,571 (GRCm38)	I560M	possibly damaging	Het
Bicc1	T	C	10: 70,946,604 (GRCm38)	D602G	possibly damaging	Het
Bnip5	G	A	17: 28,905,324 (GRCm38)	R335W	probably damaging	Het
Cd200l2	T	A	16: 45,528,492 (GRCm38)	T106S	possibly damaging	Het
Cdh4	A	G	2: 179,444,810 (GRCm38)		probably null	Het
Clasp1	T	A	1: 118,542,997 (GRCm38)		probably null	Het
Comp	G	T	8: 70,381,350 (GRCm38)	V672L	probably damaging	Het
Dbnl	T	G	11: 5,795,486 (GRCm38)	D122E	probably damaging	Het
Dgkz	G	A	2: 91,942,675 (GRCm38)	R346C	probably damaging	Het
Dnhd1	C	T	7: 105,678,309 (GRCm38)	R54C	probably damaging	Het
Elmo3	T	C	8: 105,306,714 (GRCm38)	I121T	probably damaging	Het
Fam184b	A	G	5: 45,542,232 (GRCm38)	L614P	probably damaging	Het
Fbh1	T	C	2: 11,749,537 (GRCm38)	R797G	probably benign	Het
Fcgbpl1	T	A	7: 28,144,256 (GRCm38)	C856*	probably null	Het
Gata6	A	G	18: 11,059,108 (GRCm38)	T392A	probably damaging	Het
Gm29609	A	G	5: 31,154,232 (GRCm38)	F855S	probably benign	Het
Gm3424	T	C	14: 5,829,330 (GRCm38)	N88D	possibly damaging	Het
Gnas	T	A	2: 174,298,099 (GRCm38)	S80T	unknown	Het
Hsd17b14	C	A	7: 45,566,146 (GRCm38)	P190Q	probably damaging	Het
Iqch	C	T	9: 63,445,521 (GRCm38)	V955I	possibly damaging	Het
Kcnt2	T	C	1: 140,376,384 (GRCm38)	V164A	probably benign	Het
Krt87	A	G	15: 101,438,634 (GRCm38)	L46P	probably damaging	Het
Lef1	A	G	3: 131,191,099 (GRCm38)	M237V	probably benign	Het
Lmbr1l	A	T	15: 98,909,386 (GRCm38)		probably null	Het
Lrrc49	T	C	9: 60,610,403 (GRCm38)	I408V	probably damaging	Het
Luc7l3	T	C	11: 94,295,965 (GRCm38)	S365G	unknown	Het
Marchf2	A	T	17: 33,703,058 (GRCm38)	C109*	probably null	Het
Metrnl	T	A	11: 121,715,970 (GRCm38)	C284S	probably damaging	Het
Mmachc	G	A	4: 116,705,885 (GRCm38)	T91I	probably benign	Het
Mrps7	T	G	11: 115,606,870 (GRCm38)	M187R	probably damaging	Het
Ncapd3	A	G	9: 27,067,040 (GRCm38)	E845G	probably damaging	Het
Nscme3l	G	A	19: 5,503,411 (GRCm38)	P114L	probably benign	Het
Ooep	T	A	9: 78,378,065 (GRCm38)	T90S	possibly damaging	Het
Or13c25	A	T	4: 52,911,376 (GRCm38)	D139E	probably benign	Het
Or2y1g	T	A	11: 49,280,333 (GRCm38)	F62I	probably damaging	Het
Pcdhb18	A	T	18: 37,491,609 (GRCm38)	D664V	probably damaging	Het
Pigz	T	C	16: 31,945,131 (GRCm38)	S336P	probably benign	Het
Pou2f2	A	T	7: 25,116,128 (GRCm38)	D71E	probably benign	Het
Reep6	G	T	10: 80,335,199 (GRCm38)	R303L	possibly damaging	Het
Rmdn2	A	T	17: 79,627,868 (GRCm38)	S137C		Het
Rnf220	A	T	4: 117,489,930 (GRCm38)	L95H	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,911 (GRCm38)		probably benign	Het
Stxbp1	A	T	2: 32,818,505 (GRCm38)	S83T	probably damaging	Het
Tcstv7b	A	T	13: 120,240,979 (GRCm38)	M104L	probably benign	Het
Trappc11	T	C	8: 47,505,582 (GRCm38)		probably null	Het
Ttn	G	T	2: 76,791,301 (GRCm38)	D15598E	probably damaging	Het
Vav2	T	A	2: 27,275,002 (GRCm38)	R645W	probably damaging	Het
Vmn1r169	T	A	7: 23,577,987 (GRCm38)	V268D	probably benign	Het
Zp2	A	T	7: 120,136,056 (GRCm38)	C365S	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
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'- GTTCACTGAAAACTGCAGACTG -3'
(R):5'- CCCCTTGGATCCTAGATTGC -3'

Sequencing Primer
(F):5'- TGAAAACTGCAGACTGACACAC -3'
(R):5'- GGATTTGACATCTCAAGCCTGCAG -3'

Posted On

2019-10-17