Mutagenetix > Incidental Mutation

Incidental Mutation 'R7402:Itga6'

574234

Institutional Source

Beutler Lab

Gene Symbol

Itga6

Ensembl Gene

ENSMUSG00000027111

Gene Name

integrin alpha 6

Synonyms

5033401O05Rik, Cd49f

MMRRC Submission

045484-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71617236-71688761 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71683897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1045 (N1045I)

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: N1045I

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000028522
Gene: ENSMUSG00000027111
AA Change: N1045I

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

SMART Domains

Protein: ENSMUSP00000107729
Gene: ENSMUSG00000027111

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: N638I

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	T	14: 118,943,487 (GRCm39)	P12Q	probably damaging	Het
Acsf3	A	G	8: 123,507,163 (GRCm39)	Y152C	probably damaging	Het
Adam22	T	A	5: 8,145,049 (GRCm39)	Q803L	possibly damaging	Het
Adamtsl3	G	A	7: 82,227,825 (GRCm39)	V1337I	probably damaging	Het
Adra1b	T	C	11: 43,666,845 (GRCm39)	D464G	possibly damaging	Het
Alpk3	T	A	7: 80,726,660 (GRCm39)	I115K	probably benign	Het
Amdhd2	A	G	17: 24,380,657 (GRCm39)	S96P		Het
Ankib1	T	G	5: 3,819,586 (GRCm39)	D111A	probably benign	Het
Arhgef2	A	G	3: 88,540,873 (GRCm39)	D216G	probably damaging	Het
Astn1	A	T	1: 158,380,425 (GRCm39)		probably benign	Het
Atosa	C	A	9: 74,913,668 (GRCm39)	Y107*	probably null	Het
Atrn	T	A	2: 130,789,520 (GRCm39)	W328R	probably damaging	Het
Atxn7	A	T	14: 14,095,427 (GRCm38)	H375L	probably damaging	Het
Btaf1	A	T	19: 36,980,915 (GRCm39)	N1579Y	probably damaging	Het
Cacna1b	A	T	2: 24,497,671 (GRCm39)	L2079Q	probably benign	Het
Ccdc102a	T	C	8: 95,629,981 (GRCm39)	K520R	probably damaging	Het
Cd2ap	T	C	17: 43,116,054 (GRCm39)	H602R	possibly damaging	Het
Cdkn2aip	A	G	8: 48,164,408 (GRCm39)	V435A	possibly damaging	Het
Cenpf	A	T	1: 189,391,575 (GRCm39)	Y735*	probably null	Het
Cep350	T	A	1: 155,803,961 (GRCm39)	I1041L	probably benign	Het
Ckap4	A	G	10: 84,363,863 (GRCm39)	V400A	probably damaging	Het
Comp	T	A	8: 70,829,854 (GRCm39)	D359E	probably benign	Het
Coq10b	A	C	1: 55,100,500 (GRCm39)	K61N	probably benign	Het
Csmd2	G	A	4: 128,215,889 (GRCm39)	S548N		Het
Csmd2	A	C	4: 128,215,888 (GRCm39)	S548R		Het
Ctif	A	G	18: 75,744,807 (GRCm39)	I99T	probably benign	Het
Ctns	T	G	11: 73,083,903 (GRCm39)	T40P	possibly damaging	Het
Cyp11b1	C	T	15: 74,712,674 (GRCm39)	R129H	probably damaging	Het
Cyp2c68	A	T	19: 39,729,318 (GRCm39)	N56K	probably benign	Het
D6Wsu163e	A	G	6: 126,938,968 (GRCm39)	K401R	probably damaging	Het
Dstn	T	A	2: 143,780,368 (GRCm39)	C23S	probably benign	Het
Fam72a	A	T	1: 131,466,613 (GRCm39)	E132D	probably damaging	Het
Fam72a	G	T	1: 131,466,614 (GRCm39)	E133*	probably null	Het
Gbp8	T	A	5: 105,179,161 (GRCm39)	I113F	probably damaging	Het
Gm3095	A	T	14: 15,170,332 (GRCm39)	R60S	possibly damaging	Het
Gpa33	A	T	1: 165,980,263 (GRCm39)	M109L	probably damaging	Het
Grik2	A	G	10: 49,411,493 (GRCm39)	L215P	probably damaging	Het
Gucy2g	A	C	19: 55,194,725 (GRCm39)	F897L	probably damaging	Het
Hinfp	A	G	9: 44,209,314 (GRCm39)	L295P	probably damaging	Het
Ift122	T	C	6: 115,871,283 (GRCm39)	V526A	probably benign	Het
Ighv5-12	T	C	12: 113,665,853 (GRCm39)	T82A	probably benign	Het
Il18rap	T	A	1: 40,564,111 (GRCm39)	S76R	probably benign	Het
Kctd21	A	T	7: 96,996,970 (GRCm39)	I148F	possibly damaging	Het
Kif28	T	A	1: 179,567,644 (GRCm39)	H42L	probably benign	Het
Kmt2c	A	C	5: 25,600,418 (GRCm39)	C326W	probably damaging	Het
Knl1	T	A	2: 118,925,707 (GRCm39)	L1912*	probably null	Het
Lrfn1	A	T	7: 28,158,947 (GRCm39)	I289F	probably damaging	Het
Lrriq1	T	C	10: 103,057,185 (GRCm39)	K205R	possibly damaging	Het
Mbd5	A	T	2: 49,147,566 (GRCm39)	N592I	probably damaging	Het
Mbl2	A	G	19: 30,216,802 (GRCm39)	N205D	possibly damaging	Het
Mcm4	C	A	16: 15,455,042 (GRCm39)	M1I	probably null	Het
Mgat4a	T	A	1: 37,493,865 (GRCm39)	H327L	probably damaging	Het
Miox	A	G	15: 89,219,206 (GRCm39)	D16G	probably benign	Het
Mvk	C	A	5: 114,594,039 (GRCm39)	P298Q	possibly damaging	Het
Nol6	A	G	4: 41,118,699 (GRCm39)	L726P	probably damaging	Het
Nos1	T	C	5: 118,087,880 (GRCm39)	I1381T	probably benign	Het
Nup98	A	T	7: 101,784,144 (GRCm39)	S1063T	probably benign	Het
Obscn	T	G	11: 58,886,275 (GRCm39)	M7862L	unknown	Het
Obsl1	T	C	1: 75,464,348 (GRCm39)	T1653A	probably benign	Het
Odr4	A	G	1: 150,262,107 (GRCm39)		probably null	Het
Or4c105	G	T	2: 88,647,687 (GRCm39)	M57I	probably damaging	Het
Or8g53	T	A	9: 39,683,260 (GRCm39)	T279S	probably benign	Het
Or8u9	A	G	2: 86,001,546 (GRCm39)	I205T	probably benign	Het
Or9q2	C	T	19: 13,772,358 (GRCm39)	V206I	probably damaging	Het
Pcdhb20	A	G	18: 37,638,005 (GRCm39)	Y177C	probably benign	Het
Pcdhb3	A	C	18: 37,434,657 (GRCm39)	I208L	probably benign	Het
Phlpp1	G	T	1: 106,317,420 (GRCm39)	G1214W	probably damaging	Het
Ppp4r3a	A	T	12: 101,025,053 (GRCm39)	S149T	possibly damaging	Het
Pxdn	T	C	12: 30,052,438 (GRCm39)	C872R	probably damaging	Het
Rarb	A	G	14: 16,548,419 (GRCm38)	C101R	probably damaging	Het
Rcor3	A	C	1: 191,812,283 (GRCm39)	V114G	probably benign	Het
Rnpepl1	A	G	1: 92,847,372 (GRCm39)	Q653R	probably benign	Het
Rpap2	T	A	5: 107,768,324 (GRCm39)	Y387*	probably null	Het
Rttn	C	T	18: 89,004,035 (GRCm39)	T343M	possibly damaging	Het
Samd11	T	C	4: 156,333,230 (GRCm39)	T333A	probably benign	Het
Six5	T	C	7: 18,828,968 (GRCm39)	L136P	probably damaging	Het
Slc12a5	T	A	2: 164,824,852 (GRCm39)	M419K	probably benign	Het
Slc22a21	T	C	11: 53,851,226 (GRCm39)	M179V	probably benign	Het
Slc35a4	A	G	18: 36,813,570 (GRCm39)	D6G	unknown	Het
Spdye4c	A	T	2: 128,434,261 (GRCm39)	M1L	probably benign	Het
Svep1	A	T	4: 58,069,699 (GRCm39)	C2696S	possibly damaging	Het
Tceanc2	T	C	4: 107,004,893 (GRCm39)	N85S	probably benign	Het
Teddm2	G	C	1: 153,726,344 (GRCm39)	L124V	probably benign	Het
Teddm2	A	T	1: 153,726,343 (GRCm39)	L124Q	probably damaging	Het
Tgfbr1	T	A	4: 47,405,623 (GRCm39)	W409R	probably damaging	Het
Tkt	A	G	14: 30,280,755 (GRCm39)	D62G	probably damaging	Het
Tnrc6b	T	A	15: 80,768,501 (GRCm39)	V1054D	probably damaging	Het
Trpm7	C	A	2: 126,641,126 (GRCm39)	L1564F	probably damaging	Het
Vmn1r43	A	T	6: 89,846,803 (GRCm39)	C228S	probably benign	Het
Vmn2r106	T	C	17: 20,487,883 (GRCm39)	R839G	probably damaging	Het
Vmn2r5	G	A	3: 64,403,176 (GRCm39)	T523I	probably benign	Het
Vwa3b	C	T	1: 37,153,678 (GRCm39)	Q507*	probably null	Het
Wrn	C	G	8: 33,738,994 (GRCm39)	W1278S	probably benign	Het
Zfp281	T	G	1: 136,553,190 (GRCm39)	L56R	probably damaging	Het
Zfp407	G	A	18: 84,579,661 (GRCm39)	T484I	probably benign	Het
Zfp451	T	C	1: 33,852,843 (GRCm39)	T24A	probably benign	Het
Zfp607b	T	A	7: 27,392,919 (GRCm39)	F16I	probably damaging	Het
Zfp638	T	A	6: 83,905,670 (GRCm39)	V41E	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
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
R9483:Itga6	UTSW	2	71,679,834 (GRCm39)	missense	probably benign	0.03
R9747:Itga6	UTSW	2	71,656,871 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCAACTAGTCAGTGCGTGTC -3'
(R):5'- AAGGCAAGCCACTTGGAAAC -3'

Sequencing Primer
(F):5'- GCGTGTCATCTTTATGTAGAGACAC -3'
(R):5'- AGCTGTCGCTCTTAAGTTAGC -3'

Posted On

2019-09-13