Mutagenetix > Incidental Mutation

Incidental Mutation 'R9483:Itga6'

716338

Institutional Source

Beutler Lab

Gene Symbol

Itga6

Ensembl Gene

ENSMUSG00000027111

Gene Name

integrin alpha 6

Synonyms

5033401O05Rik, Cd49f

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9483 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71617236-71688761 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71679834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1033 (V1033A)

Ref Sequence

ENSEMBL: ENSMUSP00000028522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028522] [ENSMUST00000112101]

AlphaFold

Q61739

Predicted Effect

probably benign
Transcript: ENSMUST00000028522
AA Change: V1033A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000028522
Gene: ENSMUSG00000027111
AA Change: V1033A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Int_alpha	40	101	3.12e-6	SMART
Int_alpha	254	303	2.7e-1	SMART
Int_alpha	312	368	1.46e-11	SMART
Int_alpha	373	426	9.73e-17	SMART
Int_alpha	428	483	5.83e0	SMART
SCOP:d1m1xa2	629	786	5e-32	SMART
SCOP:d1m1xa3	797	1017	3e-55	SMART
Pfam:Integrin_alpha	1038	1052	3.2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112101
AA Change: V1033A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000107729
Gene: ENSMUSG00000027111
AA Change: V1033A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Int_alpha	40	101	3.12e-6	SMART
Int_alpha	254	303	2.7e-1	SMART
Int_alpha	312	368	1.46e-11	SMART
Int_alpha	373	426	9.73e-17	SMART
Int_alpha	428	483	5.83e0	SMART
SCOP:d1m1xa2	629	786	4e-32	SMART
SCOP:d1m1xa3	797	1017	4e-55	SMART
low complexity region	1058	1070	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118086
Gene: ENSMUSG00000027111
AA Change: V626A

Domain	Start	End	E-Value	Type
Pfam:Integrin_alpha2	58	533	4.7e-131	PFAM
transmembrane domain	609	631	N/A	INTRINSIC
Pfam:Integrin_alpha	632	646	6.2e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that is a member of the integrin superfamily. Integrins are transmembrane receptors involved cell adhesion and signaling, and they are subdivided based on the heterodimer formation of alpha and beta chains. This protein has been shown to heterodimerize with beta 4 to bind laminin and to form the main component of hemidesmosomes, which mediate attachment of epithelia to basement membranes. In mouse, deficiency of this gene is associated with absence of hemidesmosomes, severe skin blistering, and early post-natal death. In humans mutations of this gene are associated with epidermolysis bullosa. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe blistering of the skin and other epithelia, absence of hemidesmosomes, altered laminin deposition in brain, and ectopic neuroblastic outgrowths on the brain and in the eye. Mutants die at birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	T	5: 113,339,010 (GRCm39)	M334K	probably benign	Het
Abca1	A	T	4: 53,060,351 (GRCm39)	I1525N	probably benign	Het
Abca4	A	T	3: 121,879,275 (GRCm39)	I398F		Het
Acbd3	A	G	1: 180,572,721 (GRCm39)	D327G	probably benign	Het
Acsm3	A	G	7: 119,383,166 (GRCm39)	T544A	probably damaging	Het
Atp11a	C	T	8: 12,901,087 (GRCm39)	T972M	probably damaging	Het
Cbfb	C	T	8: 105,929,123 (GRCm39)	R147*	probably null	Het
Ccdc17	G	T	4: 116,454,144 (GRCm39)	R54L	probably benign	Het
Cracdl	T	G	1: 37,670,496 (GRCm39)	E148A	probably damaging	Het
Cuedc2	G	T	19: 46,319,399 (GRCm39)	A223E	probably benign	Het
Cul5	T	C	9: 53,532,474 (GRCm39)	I787V	probably benign	Het
D430041D05Rik	T	A	2: 104,087,563 (GRCm39)	H471L	probably benign	Het
Ddx39a	T	C	8: 84,448,916 (GRCm39)	Y264H	probably benign	Het
Dlgap3	C	A	4: 127,127,665 (GRCm39)	R778S	probably damaging	Het
Esrrg	T	C	1: 187,930,848 (GRCm39)	V313A	probably damaging	Het
Fam124a	T	C	14: 62,844,100 (GRCm39)	I536T	probably damaging	Het
Fbxo21	T	C	5: 118,127,272 (GRCm39)	F275L	possibly damaging	Het
Gabrg1	C	A	5: 70,999,558 (GRCm39)	G2V	possibly damaging	Het
Gcc1	G	T	6: 28,418,089 (GRCm39)	A748D	probably damaging	Het
Gjb6	T	C	14: 57,361,511 (GRCm39)	D250G	probably benign	Het
Gm44501	A	T	17: 40,889,872 (GRCm39)	K129*	probably null	Het
Hmcn2	T	G	2: 31,320,375 (GRCm39)	L3952R		Het
Hpd	A	G	5: 123,312,535 (GRCm39)	I278T	probably damaging	Het
Igsf3	T	A	3: 101,346,904 (GRCm39)	F613Y	probably damaging	Het
Igsf3	T	C	3: 101,346,817 (GRCm39)	F584S	probably damaging	Het
Ik	A	G	18: 36,886,635 (GRCm39)	D369G	probably benign	Het
Ikbke	A	G	1: 131,198,719 (GRCm39)	L365P	probably damaging	Het
Il22ra2	A	T	10: 19,508,542 (GRCm39)	Q190L	possibly damaging	Het
Kif18a	T	C	2: 109,120,032 (GRCm39)	Y112H	probably damaging	Het
Krt75	T	C	15: 101,482,238 (GRCm39)	H10R	probably benign	Het
L3mbtl1	T	A	2: 162,790,734 (GRCm39)	L93H	probably benign	Het
Lrfn1	G	A	7: 28,158,183 (GRCm39)	C34Y	probably damaging	Het
Lrrc47	A	T	4: 154,101,920 (GRCm39)	I396F	probably damaging	Het
Mgat3	T	A	15: 80,095,641 (GRCm39)	V156E	probably benign	Het
Mtus2	A	G	5: 148,232,300 (GRCm39)	D1120G	possibly damaging	Het
Muc5ac	G	T	7: 141,365,465 (GRCm39)	E2700*	probably null	Het
Nxpe5	A	T	5: 138,228,591 (GRCm39)		probably benign	Het
Or51v15-ps1	T	C	7: 103,278,931 (GRCm39)	T79A	probably damaging	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Pcdhga4	T	A	18: 37,819,746 (GRCm39)	S432T	possibly damaging	Het
Pdk4	T	A	6: 5,486,716 (GRCm39)	M353L	probably benign	Het
Ppp1r13b	T	A	12: 111,800,210 (GRCm39)	K645N	probably benign	Het
Ppt1	A	T	4: 122,751,367 (GRCm39)	D288V	possibly damaging	Het
Prkcb	A	G	7: 122,181,663 (GRCm39)	Y417C	probably damaging	Het
Prss22	A	G	17: 24,215,721 (GRCm39)	I67T	probably damaging	Het
Rab29	T	C	1: 131,795,508 (GRCm39)	V40A	possibly damaging	Het
Rae1	T	C	2: 172,849,941 (GRCm39)		probably null	Het
Rasa3	C	T	8: 13,630,033 (GRCm39)		probably null	Het
Rasgrp3	A	G	17: 75,807,717 (GRCm39)	D258G	probably benign	Het
Rcc1	T	A	4: 132,062,808 (GRCm39)	T208S	probably benign	Het
Rgs3	C	A	4: 62,575,354 (GRCm39)	Y580*	probably null	Het
Rpe65	C	T	3: 159,328,318 (GRCm39)	P405S	probably damaging	Het
Rsf1	GGCGGC	GGCGGCGGCAGCGGC	7: 97,229,137 (GRCm39)		probably benign	Het
Rsph4a	A	G	10: 33,790,418 (GRCm39)	E669G	probably damaging	Het
Rusc1	A	T	3: 88,994,113 (GRCm39)	V964E	probably benign	Het
Rusc2	A	G	4: 43,415,897 (GRCm39)	N401S	probably damaging	Het
Slc10a1	G	T	12: 81,002,864 (GRCm39)	T258K	probably damaging	Het
Slc5a9	A	G	4: 111,747,418 (GRCm39)	L323P	probably damaging	Het
Slc6a17	T	A	3: 107,378,772 (GRCm39)	I637F	possibly damaging	Het
Slc8a2	A	G	7: 15,886,780 (GRCm39)	E641G	possibly damaging	Het
Sptbn2	G	T	19: 4,789,974 (GRCm39)	A1321S	probably damaging	Het
Ssh2	G	T	11: 77,283,976 (GRCm39)	A77S	possibly damaging	Het
St13	G	T	15: 81,250,587 (GRCm39)	N316K	probably damaging	Het
Taf10	A	G	7: 105,393,062 (GRCm39)	M121T	probably benign	Het
Tcta	T	C	9: 108,182,942 (GRCm39)	T68A	probably damaging	Het
Timd2	A	T	11: 46,577,889 (GRCm39)	Y81N	probably damaging	Het
Tln2	T	C	9: 67,299,769 (GRCm39)	E161G	probably damaging	Het
Tmed10	T	C	12: 85,397,621 (GRCm39)	I123V	probably benign	Het
Ttf1	T	C	2: 28,969,492 (GRCm39)		probably null	Het
Tubg1	A	G	11: 101,016,886 (GRCm39)	D396G	probably damaging	Het
Uhmk1	A	G	1: 170,034,913 (GRCm39)		probably null	Het
Unc13a	C	T	8: 72,103,221 (GRCm39)	A922T	probably benign	Het
Usp24	T	A	4: 106,219,379 (GRCm39)	V525E	probably damaging	Het
Usp28	C	A	9: 48,947,037 (GRCm39)	Q823K	probably damaging	Het
Vldlr	A	T	19: 27,224,031 (GRCm39)	I764F	probably benign	Het
Vmn2r88	T	C	14: 51,648,641 (GRCm39)	Y62H		Het
Zfp423	T	A	8: 88,507,725 (GRCm39)	N873I	possibly damaging	Het

Other mutations in Itga6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Itga6	APN	2	71,668,606 (GRCm39)	splice site	probably null
IGL00902:Itga6	APN	2	71,679,738 (GRCm39)	missense	probably benign	0.39
IGL01360:Itga6	APN	2	71,617,670 (GRCm39)	splice site	probably null
IGL01621:Itga6	APN	2	71,656,000 (GRCm39)	missense	probably benign	0.02
IGL01877:Itga6	APN	2	71,668,624 (GRCm39)	missense	probably benign
IGL02332:Itga6	APN	2	71,668,717 (GRCm39)	missense	possibly damaging	0.63
IGL02556:Itga6	APN	2	71,669,027 (GRCm39)	missense	probably benign	0.20
IGL02713:Itga6	APN	2	71,647,057 (GRCm39)	missense	possibly damaging	0.79
IGL02811:Itga6	APN	2	71,657,076 (GRCm39)	missense	probably damaging	0.98
IGL03171:Itga6	APN	2	71,671,673 (GRCm39)	critical splice donor site	probably null
isle_royale	UTSW	2	71,617,577 (GRCm39)	missense	probably benign	0.04
PIT4418001:Itga6	UTSW	2	71,664,414 (GRCm39)	missense	probably benign	0.06
R0070:Itga6	UTSW	2	71,657,060 (GRCm39)	unclassified	probably benign
R0611:Itga6	UTSW	2	71,650,404 (GRCm39)	missense	possibly damaging	0.84
R1404:Itga6	UTSW	2	71,669,060 (GRCm39)	missense	probably benign
R1404:Itga6	UTSW	2	71,669,060 (GRCm39)	missense	probably benign
R1439:Itga6	UTSW	2	71,664,378 (GRCm39)	missense	probably damaging	1.00
R1487:Itga6	UTSW	2	71,673,584 (GRCm39)	missense	possibly damaging	0.87
R1713:Itga6	UTSW	2	71,617,546 (GRCm39)	missense	probably benign
R1720:Itga6	UTSW	2	71,650,510 (GRCm39)	missense	probably damaging	1.00
R1816:Itga6	UTSW	2	71,671,153 (GRCm39)	missense	probably benign	0.00
R1866:Itga6	UTSW	2	71,664,414 (GRCm39)	missense	probably benign
R2009:Itga6	UTSW	2	71,647,025 (GRCm39)	missense	probably benign	0.26
R2018:Itga6	UTSW	2	71,648,828 (GRCm39)	missense	probably benign	0.16
R2171:Itga6	UTSW	2	71,650,358 (GRCm39)	missense	probably damaging	1.00
R2189:Itga6	UTSW	2	71,655,961 (GRCm39)	missense	probably benign	0.00
R2289:Itga6	UTSW	2	71,648,873 (GRCm39)	missense	probably damaging	0.99
R2399:Itga6	UTSW	2	71,650,358 (GRCm39)	missense	probably damaging	1.00
R4437:Itga6	UTSW	2	71,655,982 (GRCm39)	missense	probably benign	0.42
R4482:Itga6	UTSW	2	71,686,259 (GRCm39)	missense	probably damaging	1.00
R4773:Itga6	UTSW	2	71,652,788 (GRCm39)	missense	probably benign	0.13
R4786:Itga6	UTSW	2	71,669,034 (GRCm39)	missense	possibly damaging	0.80
R4898:Itga6	UTSW	2	71,668,717 (GRCm39)	missense	possibly damaging	0.77
R5074:Itga6	UTSW	2	71,656,779 (GRCm39)	missense	probably benign
R5386:Itga6	UTSW	2	71,671,494 (GRCm39)	missense	probably damaging	1.00
R5591:Itga6	UTSW	2	71,670,934 (GRCm39)	missense	probably damaging	1.00
R6024:Itga6	UTSW	2	71,617,577 (GRCm39)	missense	probably benign	0.04
R6174:Itga6	UTSW	2	71,664,053 (GRCm39)	missense	possibly damaging	0.88
R6210:Itga6	UTSW	2	71,664,351 (GRCm39)	critical splice acceptor site	probably null
R6432:Itga6	UTSW	2	71,664,116 (GRCm39)	missense	possibly damaging	0.75
R6644:Itga6	UTSW	2	71,671,468 (GRCm39)	missense	probably damaging	1.00
R7354:Itga6	UTSW	2	71,650,574 (GRCm39)	missense	probably damaging	1.00
R7402:Itga6	UTSW	2	71,683,897 (GRCm39)	missense	probably benign	0.05
R7479:Itga6	UTSW	2	71,668,680 (GRCm39)	nonsense	probably null
R7635:Itga6	UTSW	2	71,673,577 (GRCm39)	missense	probably benign	0.00
R7657:Itga6	UTSW	2	71,676,595 (GRCm39)	missense	probably benign	0.40
R7737:Itga6	UTSW	2	71,652,787 (GRCm39)	missense	probably benign	0.38
R7782:Itga6	UTSW	2	71,671,879 (GRCm39)	missense	probably damaging	0.98
R8062:Itga6	UTSW	2	71,672,087 (GRCm39)	missense	probably benign	0.11
R8312:Itga6	UTSW	2	71,686,297 (GRCm39)	missense	probably benign
R8698:Itga6	UTSW	2	71,673,618 (GRCm39)	missense	probably benign
R9080:Itga6	UTSW	2	71,673,633 (GRCm39)	missense	probably benign
R9169:Itga6	UTSW	2	71,647,015 (GRCm39)	missense	possibly damaging	0.74
R9209:Itga6	UTSW	2	71,671,477 (GRCm39)	missense	probably benign	0.27
R9267:Itga6	UTSW	2	71,668,756 (GRCm39)	missense	probably benign	0.00
R9747:Itga6	UTSW	2	71,656,871 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGGTACCTGATGTGAGCTG -3'
(R):5'- TTGATTGCAGGCACAGAGAATG -3'

Sequencing Primer
(F):5'- TACCTGATGTGAGCTGGCACC -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'

Posted On

2022-07-18