Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02713:Itga6'

304655

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itga6

Ensembl Gene

ENSMUSG00000027111

Gene Name

integrin alpha 6

Synonyms

Cd49f, 5033401O05Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02713

Quality Score

Status

Chromosome

Chromosomal Location

71745616-71858416 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71816713 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 89 (T89I)

Ref Sequence

ENSEMBL: ENSMUSP00000107729 (fasta)

Gene Model

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

AlphaFold

Q61739

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028522
AA Change: T89I

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028522
Gene: ENSMUSG00000027111
AA Change: T89I

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

possibly damaging
Transcript: ENSMUST00000112101
AA Change: T89I

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107729
Gene: ENSMUSG00000027111
AA Change: T89I

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

noncoding transcript
Transcript: ENSMUST00000133124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152009

Coding Region Coverage

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,624,137	K893N	possibly damaging	Het
Acan	A	G	7: 79,100,244	T1588A	possibly damaging	Het
Apeh	A	T	9: 108,085,672	L700Q	probably damaging	Het
Arid1b	T	C	17: 5,343,011	I2272T	probably damaging	Het
Best3	T	G	10: 117,024,529	F565V	probably benign	Het
Birc6	A	G	17: 74,579,324	N521S	probably benign	Het
Cd209f	T	A	8: 4,103,732	R191S	probably benign	Het
Clec4e	A	T	6: 123,286,304	Y63*	probably null	Het
Cyp26c1	C	T	19: 37,693,219	T490M	probably damaging	Het
Cyp2b9	T	A	7: 26,173,520	H29Q	probably benign	Het
Cyp2d10	A	C	15: 82,406,082		probably benign	Het
Dgat1	C	A	15: 76,503,534	R291L	probably damaging	Het
Dyrk1a	C	A	16: 94,685,345		probably benign	Het
Esp4	T	C	17: 40,602,406	F55L	probably benign	Het
Fam227a	G	A	15: 79,636,796		probably benign	Het
Ggt1	T	C	10: 75,574,344	Y37H	probably damaging	Het
Grsf1	A	T	5: 88,672,730	I64K	probably damaging	Het
Jph2	T	C	2: 163,375,917	T280A	probably damaging	Het
Lipm	A	G	19: 34,101,170	M1V	probably null	Het
Nbeal1	C	T	1: 60,235,237	A513V	possibly damaging	Het
Olfr1491	A	T	19: 13,705,189	I121F	possibly damaging	Het
Olfr514	A	T	7: 108,825,594	M135K	probably damaging	Het
Olfr518	G	A	7: 108,880,853	T251I	probably damaging	Het
Olfr61	A	T	7: 140,637,916	I72F	probably damaging	Het
Olfr888	C	T	9: 38,109,327	P214S	probably damaging	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Orc6	A	G	8: 85,307,586	E146G	probably benign	Het
Patl2	A	G	2: 122,125,847	S179P	probably benign	Het
Pdzd8	C	A	19: 59,345,458	G44C	probably damaging	Het
Phox2b	A	G	5: 67,096,595		probably benign	Het
Ppp4r3b	T	G	11: 29,188,445	H264Q	probably damaging	Het
Ptprk	T	C	10: 28,592,811	I1409T	possibly damaging	Het
Pum1	T	A	4: 130,766,012	I842N	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sgca	T	A	11: 94,971,305	N174Y	probably damaging	Het
Slc7a14	A	T	3: 31,257,763	L36Q	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stard13	G	A	5: 151,042,186	Q935*	probably null	Het
Suds3	C	T	5: 117,094,905		probably null	Het
Sv2b	A	T	7: 75,124,163	L520Q	possibly damaging	Het
Tmem26	T	C	10: 68,751,295	F191S	probably damaging	Het

Other mutations in Itga6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Itga6	APN	2	71838262	splice site	probably null
IGL00902:Itga6	APN	2	71849394	missense	probably benign	0.39
IGL01360:Itga6	APN	2	71787326	splice site	probably null
IGL01621:Itga6	APN	2	71825656	missense	probably benign	0.02
IGL01877:Itga6	APN	2	71838280	missense	probably benign
IGL02332:Itga6	APN	2	71838373	missense	possibly damaging	0.63
IGL02556:Itga6	APN	2	71838683	missense	probably benign	0.20
IGL02811:Itga6	APN	2	71826732	missense	probably damaging	0.98
IGL03171:Itga6	APN	2	71841329	critical splice donor site	probably null
isle_royale	UTSW	2	71787233	missense	probably benign	0.04
PIT4418001:Itga6	UTSW	2	71834070	missense	probably benign	0.06
R0070:Itga6	UTSW	2	71826716	unclassified	probably benign
R0611:Itga6	UTSW	2	71820060	missense	possibly damaging	0.84
R1404:Itga6	UTSW	2	71838716	missense	probably benign
R1404:Itga6	UTSW	2	71838716	missense	probably benign
R1439:Itga6	UTSW	2	71834034	missense	probably damaging	1.00
R1487:Itga6	UTSW	2	71843240	missense	possibly damaging	0.87
R1713:Itga6	UTSW	2	71787202	missense	probably benign
R1720:Itga6	UTSW	2	71820166	missense	probably damaging	1.00
R1816:Itga6	UTSW	2	71840809	missense	probably benign	0.00
R1866:Itga6	UTSW	2	71834070	missense	probably benign
R2009:Itga6	UTSW	2	71816681	missense	probably benign	0.26
R2018:Itga6	UTSW	2	71818484	missense	probably benign	0.16
R2171:Itga6	UTSW	2	71820014	missense	probably damaging	1.00
R2189:Itga6	UTSW	2	71825617	missense	probably benign	0.00
R2289:Itga6	UTSW	2	71818529	missense	probably damaging	0.99
R2399:Itga6	UTSW	2	71820014	missense	probably damaging	1.00
R4437:Itga6	UTSW	2	71825638	missense	probably benign	0.42
R4482:Itga6	UTSW	2	71855915	missense	probably damaging	1.00
R4773:Itga6	UTSW	2	71822444	missense	probably benign	0.13
R4786:Itga6	UTSW	2	71838690	missense	possibly damaging	0.80
R4898:Itga6	UTSW	2	71838373	missense	possibly damaging	0.77
R5074:Itga6	UTSW	2	71826435	missense	probably benign
R5386:Itga6	UTSW	2	71841150	missense	probably damaging	1.00
R5591:Itga6	UTSW	2	71840590	missense	probably damaging	1.00
R6024:Itga6	UTSW	2	71787233	missense	probably benign	0.04
R6174:Itga6	UTSW	2	71833709	missense	possibly damaging	0.88
R6210:Itga6	UTSW	2	71834007	critical splice acceptor site	probably null
R6432:Itga6	UTSW	2	71833772	missense	possibly damaging	0.75
R6644:Itga6	UTSW	2	71841124	missense	probably damaging	1.00
R7354:Itga6	UTSW	2	71820230	missense	probably damaging	1.00
R7402:Itga6	UTSW	2	71853553	missense	probably benign	0.05
R7479:Itga6	UTSW	2	71838336	nonsense	probably null
R7635:Itga6	UTSW	2	71843233	missense	probably benign	0.00
R7657:Itga6	UTSW	2	71846251	missense	probably benign	0.40
R7737:Itga6	UTSW	2	71822443	missense	probably benign	0.38
R7782:Itga6	UTSW	2	71841535	missense	probably damaging	0.98
R8062:Itga6	UTSW	2	71841743	missense	probably benign	0.11
R8312:Itga6	UTSW	2	71855953	missense	probably benign
R8698:Itga6	UTSW	2	71843274	missense	probably benign
R9080:Itga6	UTSW	2	71843289	missense	probably benign
R9169:Itga6	UTSW	2	71816671	missense	possibly damaging	0.74
R9209:Itga6	UTSW	2	71841133	missense	probably benign	0.27
R9267:Itga6	UTSW	2	71838412	missense	probably benign	0.00
R9483:Itga6	UTSW	2	71849490	missense	probably benign	0.03
R9747:Itga6	UTSW	2	71826527	missense	probably damaging	1.00

Posted On

2015-04-16