Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02475:Itga7'

294898

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itga7

Ensembl Gene

ENSMUSG00000025348

Gene Name

integrin alpha 7

Synonyms

[a]7, alpha7

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.395) question?

Stock #

IGL02475

Quality Score

Status

Chromosome

Chromosomal Location

128933818-128958282 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128934089 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 34 (F34S)

Ref Sequence

ENSEMBL: ENSMUSP00000096712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099112] [ENSMUST00000218290]

Predicted Effect

probably damaging
Transcript: ENSMUST00000099112
AA Change: F34S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096712
Gene: ENSMUSG00000025348
AA Change: F34S

Domain	Start	End	E-Value	Type
Int_alpha	48	110	4.11e-6	SMART
Int_alpha	259	312	3.72e-4	SMART
Int_alpha	316	372	1.16e-14	SMART
Int_alpha	377	430	9.21e-18	SMART
Int_alpha	435	490	4.38e-1	SMART
low complexity region	510	523	N/A	INTRINSIC
SCOP:d1m1xa3	807	1039	6e-50	SMART
low complexity region	1041	1058	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000218290
AA Change: F34S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218387

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the integrin family of cell surface proteins that mediate cellular interactions with the extracellular matrix and other cells. The encoded transmembrane protein is the alpha subunit that forms a noncovalent heterodimer with the beta subunit to form the functional integrin receptor that binds to laminin. Mice lacking the encoded protein exhibit symptoms of progressive muscular dystrophy, impaired axonal regeneration and cerebral vascular defects. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for disruptions of this gene display characteristics of muscular dystrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,533		probably benign	Het
5730409E04Rik	A	G	4: 126,611,949	E90G	probably damaging	Het
Abhd6	T	A	14: 8,039,849	I27N	probably damaging	Het
Akap6	A	T	12: 53,139,494	E1230D	probably benign	Het
Bcl2l12	A	G	7: 44,996,893	V31A	possibly damaging	Het
Cep350	G	A	1: 155,862,595	R2501W	probably damaging	Het
Cnga3	A	G	1: 37,257,991		probably null	Het
Crcp	T	C	5: 130,059,858		probably benign	Het
Creb5	G	A	6: 53,693,924	S304N	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnah5	A	G	15: 28,219,150	D38G	probably benign	Het
Fam171a1	A	G	2: 3,223,490	I293V	possibly damaging	Het
Fbxw10	T	C	11: 62,857,735	V396A	possibly damaging	Het
Gm10340	G	A	14: 3,140,482		probably benign	Het
Gm20390	A	G	11: 93,955,574	V16A	probably damaging	Het
Grik3	A	G	4: 125,650,517	T344A	probably benign	Het
Musk	T	C	4: 58,353,936		probably benign	Het
Neb	G	T	2: 52,292,819	N1038K	probably damaging	Het
Nf1	T	C	11: 79,535,667	Y1636H	probably damaging	Het
Ngef	G	T	1: 87,479,150	T632K	possibly damaging	Het
Nts	A	G	10: 102,490,247		probably benign	Het
Olfml2b	A	G	1: 170,682,174	D697G	probably damaging	Het
Olfr1031	T	C	2: 85,992,032	F72L	probably benign	Het
Olfr1502	T	A	19: 13,862,299	C169S	probably damaging	Het
Olfr205	A	T	16: 59,328,725	H261Q	probably benign	Het
Otof	T	C	5: 30,376,682	R1428G	probably damaging	Het
Pgghg	T	C	7: 140,945,720	S479P		Het
Rnaseh2b	T	A	14: 62,346,615	F37I	probably damaging	Het
Rtn4	T	A	11: 29,733,801	I1031N	probably damaging	Het
Rxfp2	A	G	5: 150,063,686	E344G	probably benign	Het
Scel	A	G	14: 103,537,008	R89G	possibly damaging	Het
Sirt4	T	C	5: 115,482,996	E39G	probably benign	Het
Slc6a12	T	A	6: 121,354,375		probably null	Het
Snapc3	C	A	4: 83,450,096	H277N	probably benign	Het
Susd2	A	G	10: 75,637,499		probably null	Het
Tagap1	T	C	17: 6,956,427	Q290R	probably benign	Het
Tenm3	A	T	8: 48,279,198		probably benign	Het
Tmem54	A	T	4: 129,108,280	H40L	probably damaging	Het
Tnks1bp1	T	C	2: 85,059,377	S683P	probably damaging	Het
Tnpo2	A	G	8: 85,050,502	D547G	probably benign	Het
Tpd52l2	G	A	2: 181,499,874	V17M	probably benign	Het
Trip11	T	A	12: 101,895,683	T208S	probably benign	Het
Ttc17	C	A	2: 94,364,376	D551Y	probably damaging	Het
Ttll12	A	T	15: 83,587,101	W222R	probably damaging	Het
Xkr8	A	T	4: 132,728,201	I287N	probably damaging	Het
Zdhhc2	G	T	8: 40,473,025	G354C	probably null	Het
Zfp13	C	T	17: 23,576,098	A493T	probably benign	Het

Other mutations in Itga7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Itga7	APN	10	128941854	missense	possibly damaging	0.67
IGL00809:Itga7	APN	10	128939169	critical splice donor site	probably null
IGL01448:Itga7	APN	10	128949468	nonsense	probably null
IGL01675:Itga7	APN	10	128946855	missense	probably damaging	1.00
IGL02158:Itga7	APN	10	128953782	missense	possibly damaging	0.95
IGL02689:Itga7	APN	10	128946818	missense	possibly damaging	0.83
IGL02946:Itga7	APN	10	128934083	missense	probably benign
IGL03223:Itga7	APN	10	128948811	unclassified	probably benign
R0662:Itga7	UTSW	10	128953531	missense	probably damaging	1.00
R0972:Itga7	UTSW	10	128942877	missense	probably damaging	0.98
R1449:Itga7	UTSW	10	128953501	missense	probably benign	0.13
R1521:Itga7	UTSW	10	128957811	missense	possibly damaging	0.63
R1597:Itga7	UTSW	10	128946863	missense	probably benign	0.17
R1651:Itga7	UTSW	10	128948824	missense	probably benign	0.01
R4718:Itga7	UTSW	10	128940734	frame shift	probably null
R5011:Itga7	UTSW	10	128949447	missense	possibly damaging	0.51
R5151:Itga7	UTSW	10	128944511	missense	possibly damaging	0.91
R5287:Itga7	UTSW	10	128943158	missense	probably benign	0.38
R5419:Itga7	UTSW	10	128944033	missense	probably null	0.06
R5907:Itga7	UTSW	10	128942981	missense	probably damaging	1.00
R6165:Itga7	UTSW	10	128942935	missense	probably benign	0.16
R6189:Itga7	UTSW	10	128950403	missense	possibly damaging	0.76
R6263:Itga7	UTSW	10	128944086	missense	probably benign
R6612:Itga7	UTSW	10	128948993	missense	possibly damaging	0.65
R6746:Itga7	UTSW	10	128949472	missense	probably benign	0.13
R6850:Itga7	UTSW	10	128945516	missense	probably damaging	1.00
R7226:Itga7	UTSW	10	128940932	missense	probably damaging	0.98
R7257:Itga7	UTSW	10	128944413	missense	possibly damaging	0.55
R7344:Itga7	UTSW	10	128940929	missense	possibly damaging	0.63
R7456:Itga7	UTSW	10	128941936	missense	probably damaging	1.00
R7545:Itga7	UTSW	10	128933906	start gained	probably benign
R7643:Itga7	UTSW	10	128953501	missense	probably benign	0.13
R7644:Itga7	UTSW	10	128953501	missense	probably benign	0.13
R7822:Itga7	UTSW	10	128942966	missense	probably benign	0.00
X0020:Itga7	UTSW	10	128942877	missense	probably damaging	0.98
Z1088:Itga7	UTSW	10	128949163	missense	probably benign	0.10

Posted On

2015-04-16