Mutagenetix > Incidental Mutation

Incidental Mutation 'R0972:Itga7'

82886

Institutional Source

Beutler Lab

Gene Symbol

Itga7

Ensembl Gene

ENSMUSG00000025348

Gene Name

integrin alpha 7

Synonyms

[a]7, alpha7

MMRRC Submission

039101-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.388) question?

Stock #

R0972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128769645-128794155 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128778746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 291 (R291H)

Ref Sequence

ENSEMBL: ENSMUSP00000151960 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000099112
AA Change: R287H

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096712
Gene: ENSMUSG00000025348
AA Change: R287H

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

noncoding transcript
Transcript: ENSMUST00000158143

Predicted Effect

probably damaging
Transcript: ENSMUST00000218290
AA Change: R291H

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218387

Meta Mutation Damage Score

0.3670

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.3%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 41,208,168 (GRCm39)	R478Q	probably damaging	Het
Adgrf5	A	T	17: 43,761,874 (GRCm39)	S1190C	probably damaging	Het
Akr1a1	T	C	4: 116,497,204 (GRCm39)		probably null	Het
Bco2	A	T	9: 50,447,615 (GRCm39)	D369E	probably benign	Het
Blm	A	T	7: 80,163,118 (GRCm39)	S78T	probably benign	Het
Brsk2	C	G	7: 141,547,441 (GRCm39)		probably benign	Het
Cct8	A	G	16: 87,283,508 (GRCm39)	V269A	possibly damaging	Het
Cdh12	A	T	15: 21,237,850 (GRCm39)	Q28H	probably benign	Het
Cep290	A	G	10: 100,354,624 (GRCm39)	T896A	probably benign	Het
Chrm2	T	A	6: 36,501,401 (GRCm39)	N419K	possibly damaging	Het
Clasp2	A	T	9: 113,676,773 (GRCm39)	H168L	possibly damaging	Het
Cog3	A	T	14: 75,954,610 (GRCm39)	M643K	probably benign	Het
Col6a5	A	G	9: 105,817,484 (GRCm39)	S276P	unknown	Het
Colgalt2	T	C	1: 152,347,495 (GRCm39)	V143A	probably damaging	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Ddx56	A	T	11: 6,217,718 (GRCm39)	M1K	probably null	Het
Dnah3	C	T	7: 119,634,563 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,136,176 (GRCm39)	T988A	possibly damaging	Het
Esp15	T	A	17: 39,953,557 (GRCm39)	F15I	possibly damaging	Het
Fam237b	T	A	5: 5,625,512 (GRCm39)	D69E	probably benign	Het
Fbh1	C	T	2: 11,768,899 (GRCm39)		probably benign	Het
Gucy1b2	A	T	14: 62,646,127 (GRCm39)	I572N	possibly damaging	Het
Gucy1b2	T	C	14: 62,651,818 (GRCm39)	I393V	possibly damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Herc1	C	A	9: 66,279,427 (GRCm39)	R112S	probably damaging	Het
Jag1	A	G	2: 136,925,371 (GRCm39)	L1077S	possibly damaging	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Klrc2	T	C	6: 129,635,726 (GRCm39)	Y134C	probably damaging	Het
Map2k2	C	A	10: 80,955,482 (GRCm39)	D67E	probably benign	Het
Mest	G	A	6: 30,740,683 (GRCm39)	W14*	probably null	Het
Mier2	A	G	10: 79,380,455 (GRCm39)		probably benign	Het
Mog	A	G	17: 37,328,424 (GRCm39)	V169A	probably benign	Het
Mov10l1	T	C	15: 88,905,482 (GRCm39)	V879A	probably damaging	Het
Mrgpra9	A	G	7: 46,885,203 (GRCm39)	S155P	probably damaging	Het
Mtmr10	A	G	7: 63,976,457 (GRCm39)	D418G	probably damaging	Het
Mtpn	T	C	6: 35,498,911 (GRCm39)	D58G	probably null	Het
Myh8	A	G	11: 67,188,585 (GRCm39)	R1056G	probably damaging	Het
Nek1	T	A	8: 61,542,465 (GRCm39)		probably null	Het
Or4k38	T	C	2: 111,165,763 (GRCm39)	Y220C	probably benign	Het
Or5al7	A	C	2: 85,992,648 (GRCm39)	L215R	possibly damaging	Het
Or8b36	T	A	9: 37,937,856 (GRCm39)	F251L	possibly damaging	Het
Pcnx1	G	A	12: 81,960,186 (GRCm39)	D181N	probably damaging	Het
Pdzrn4	A	G	15: 92,655,592 (GRCm39)	D495G	probably benign	Het
Plppr3	A	G	10: 79,700,920 (GRCm39)	S641P	probably damaging	Het
Pramel11	T	A	4: 143,623,533 (GRCm39)	T214S	probably benign	Het
Prelp	A	T	1: 133,842,414 (GRCm39)	Y244N	probably damaging	Het
Prg2	C	A	2: 84,812,393 (GRCm39)	N34K	probably benign	Het
Ptp4a1	A	G	1: 30,984,080 (GRCm39)	V46A	possibly damaging	Het
Rpl6	A	G	5: 121,346,565 (GRCm39)	D222G	possibly damaging	Het
Rtp1	A	T	16: 23,250,058 (GRCm39)	D141V	probably damaging	Het
Sacs	T	A	14: 61,449,412 (GRCm39)	Y3819*	probably null	Het
Serinc5	A	G	13: 92,825,128 (GRCm39)	T186A	probably benign	Het
Slc15a2	A	G	16: 36,577,501 (GRCm39)	S422P	probably benign	Het
Slc2a8	A	T	2: 32,865,379 (GRCm39)	V366D	probably benign	Het
Smarca1	T	C	X: 46,938,864 (GRCm39)	R715G	possibly damaging	Het
Spdef	C	T	17: 27,933,997 (GRCm39)	A275T	probably damaging	Het
Tcf21	T	C	10: 22,695,621 (GRCm39)	K61R	probably benign	Het
Tep1	A	G	14: 51,061,753 (GRCm39)		probably benign	Het
Thada	G	A	17: 84,736,490 (GRCm39)		probably benign	Het
Thap11	T	A	8: 106,582,810 (GRCm39)	I273N	probably damaging	Het
Tmem129	T	A	5: 33,812,112 (GRCm39)	E262V	possibly damaging	Het
Tnxb	A	G	17: 34,904,117 (GRCm39)	Y1086C	probably damaging	Het
Togaram2	A	G	17: 72,014,309 (GRCm39)	Y619C	probably damaging	Het
Top1	C	T	2: 160,562,945 (GRCm39)	A717V	probably damaging	Het
Trpm7	G	A	2: 126,646,969 (GRCm39)	P1507S	probably benign	Het
Ubr2	A	T	17: 47,245,187 (GRCm39)		probably null	Het
Usp30	T	C	5: 114,249,925 (GRCm39)		probably benign	Het
Vmn1r3	T	A	4: 3,185,125 (GRCm39)	I61F	probably damaging	Het
Zbtb22	C	T	17: 34,136,326 (GRCm39)	T157I	possibly damaging	Het
Zfp677	A	T	17: 21,618,572 (GRCm39)	H543L	probably damaging	Het
Zranb3	G	T	1: 127,884,383 (GRCm39)	P1001Q	probably damaging	Het

Other mutations in Itga7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Itga7	APN	10	128,777,723 (GRCm39)	missense	possibly damaging	0.67
IGL00809:Itga7	APN	10	128,775,038 (GRCm39)	critical splice donor site	probably null
IGL01448:Itga7	APN	10	128,785,337 (GRCm39)	nonsense	probably null
IGL01675:Itga7	APN	10	128,782,724 (GRCm39)	missense	probably damaging	1.00
IGL02158:Itga7	APN	10	128,789,651 (GRCm39)	missense	possibly damaging	0.95
IGL02475:Itga7	APN	10	128,769,958 (GRCm39)	missense	probably damaging	1.00
IGL02689:Itga7	APN	10	128,782,687 (GRCm39)	missense	possibly damaging	0.83
IGL02946:Itga7	APN	10	128,769,952 (GRCm39)	missense	probably benign
IGL03223:Itga7	APN	10	128,784,680 (GRCm39)	unclassified	probably benign
R0662:Itga7	UTSW	10	128,789,400 (GRCm39)	missense	probably damaging	1.00
R1449:Itga7	UTSW	10	128,789,370 (GRCm39)	missense	probably benign	0.13
R1521:Itga7	UTSW	10	128,793,680 (GRCm39)	missense	possibly damaging	0.63
R1597:Itga7	UTSW	10	128,782,732 (GRCm39)	missense	probably benign	0.17
R1651:Itga7	UTSW	10	128,784,693 (GRCm39)	missense	probably benign	0.01
R4718:Itga7	UTSW	10	128,776,603 (GRCm39)	frame shift	probably null
R5011:Itga7	UTSW	10	128,785,316 (GRCm39)	missense	possibly damaging	0.51
R5151:Itga7	UTSW	10	128,780,380 (GRCm39)	missense	possibly damaging	0.91
R5287:Itga7	UTSW	10	128,779,027 (GRCm39)	missense	probably benign	0.38
R5419:Itga7	UTSW	10	128,779,902 (GRCm39)	missense	probably null	0.06
R5907:Itga7	UTSW	10	128,778,850 (GRCm39)	missense	probably damaging	1.00
R6165:Itga7	UTSW	10	128,778,804 (GRCm39)	missense	probably benign	0.16
R6189:Itga7	UTSW	10	128,786,272 (GRCm39)	missense	possibly damaging	0.76
R6263:Itga7	UTSW	10	128,779,955 (GRCm39)	missense	probably benign
R6612:Itga7	UTSW	10	128,784,862 (GRCm39)	missense	possibly damaging	0.65
R6746:Itga7	UTSW	10	128,785,341 (GRCm39)	missense	probably benign	0.13
R6850:Itga7	UTSW	10	128,781,385 (GRCm39)	missense	probably damaging	1.00
R7226:Itga7	UTSW	10	128,776,801 (GRCm39)	missense	probably damaging	0.98
R7257:Itga7	UTSW	10	128,780,282 (GRCm39)	missense	possibly damaging	0.55
R7344:Itga7	UTSW	10	128,776,798 (GRCm39)	missense	possibly damaging	0.63
R7456:Itga7	UTSW	10	128,777,805 (GRCm39)	missense	probably damaging	1.00
R7545:Itga7	UTSW	10	128,769,775 (GRCm39)	start gained	probably benign
R7643:Itga7	UTSW	10	128,789,370 (GRCm39)	missense	probably benign	0.13
R7644:Itga7	UTSW	10	128,789,370 (GRCm39)	missense	probably benign	0.13
R7822:Itga7	UTSW	10	128,778,835 (GRCm39)	missense	probably benign	0.00
R7998:Itga7	UTSW	10	128,770,020 (GRCm39)	missense	probably damaging	1.00
R9417:Itga7	UTSW	10	128,793,543 (GRCm39)	missense	unknown
R9563:Itga7	UTSW	10	128,789,669 (GRCm39)	missense	probably damaging	1.00
X0020:Itga7	UTSW	10	128,778,746 (GRCm39)	missense	probably damaging	0.98
Z1088:Itga7	UTSW	10	128,785,032 (GRCm39)	missense	probably benign	0.10
Z1176:Itga7	UTSW	10	128,789,696 (GRCm39)	missense	probably benign	0.12
Z1177:Itga7	UTSW	10	128,779,083 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTCTTACCAAGTCACCAAGGCTTC -3'
(R):5'- GCCACCCTGGTTCATGTACACATAC -3'

Sequencing Primer
(F):5'- GCTGCAAAGATTTCTAGGCCC -3'
(R):5'- AGACAGCACAACCTCAGGTA -3'

Posted On

2013-11-08