Mutagenetix > Incidental Mutation

Incidental Mutation 'R6263:Itga7'

506831

Institutional Source

Beutler Lab

Gene Symbol

Itga7

Ensembl Gene

ENSMUSG00000025348

Gene Name

integrin alpha 7

Synonyms

[a]7, alpha7

MMRRC Submission

044437-MU

Accession Numbers

Essential gene?

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

Stock #

R6263 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128769645-128794155 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128779955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 501 (D501E)

Ref Sequence

ENSEMBL: ENSMUSP00000151960 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000099112
AA Change: D497E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096712
Gene: ENSMUSG00000025348
AA Change: D497E

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 benign
Transcript: ENSMUST00000218290
AA Change: D501E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218387

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

97% (66/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,995,641 (GRCm39)	I5642V	probably benign	Het
Atp5f1a	A	G	18: 77,866,930 (GRCm39)		probably null	Het
Bltp1	T	A	3: 36,985,260 (GRCm39)	N863K	probably benign	Het
Bsn	A	T	9: 107,990,453 (GRCm39)	F1766L	probably damaging	Het
Ccdc141	T	C	2: 76,938,807 (GRCm39)	Q266R	probably damaging	Het
Cdh10	T	A	15: 18,964,154 (GRCm39)	D105E	possibly damaging	Het
Clca3a1	T	A	3: 144,455,539 (GRCm39)	D418V	probably damaging	Het
Cnnm2	C	A	19: 46,845,344 (GRCm39)	T612K	probably benign	Het
Col3a1	T	C	1: 45,360,735 (GRCm39)	V55A	unknown	Het
Cpd	A	C	11: 76,737,097 (GRCm39)	D232E	probably benign	Het
Csde1	A	G	3: 102,947,333 (GRCm39)	H95R	probably benign	Het
Ctcfl	T	A	2: 172,937,130 (GRCm39)	H596L	probably benign	Het
Cwc22	T	C	2: 77,726,515 (GRCm39)	R855G	possibly damaging	Het
Cwc25	A	G	11: 97,644,053 (GRCm39)	Y227H	probably damaging	Het
Cyp2c38	G	A	19: 39,380,659 (GRCm39)	P409S	probably damaging	Het
Ddx5	A	G	11: 106,679,139 (GRCm39)	S2P	possibly damaging	Het
Dnah2	C	A	11: 69,348,238 (GRCm39)	G2570W	probably damaging	Het
Dnajc10	T	A	2: 80,174,292 (GRCm39)	V528E	probably damaging	Het
Efcab3	G	A	11: 104,810,312 (GRCm39)	D3150N	unknown	Het
Fmo1	A	G	1: 162,677,629 (GRCm39)		probably null	Het
Gpatch1	C	A	7: 35,002,848 (GRCm39)	D221Y	probably damaging	Het
Ino80	T	C	2: 119,213,895 (GRCm39)	Y1225C	probably damaging	Het
Lgr4	T	C	2: 109,842,243 (GRCm39)	S743P	possibly damaging	Het
Lilra5	A	T	7: 4,241,360 (GRCm39)	Y99F	probably damaging	Het
Lmna	A	G	3: 88,410,265 (GRCm39)	V49A	probably damaging	Het
Lrrc72	G	A	12: 36,258,603 (GRCm39)	R267*	probably null	Het
Mapkbp1	T	C	2: 119,853,772 (GRCm39)	S1199P	probably damaging	Het
Mmp25	G	A	17: 23,849,768 (GRCm39)	A541V	possibly damaging	Het
Myh10	A	T	11: 68,701,058 (GRCm39)	N1756Y	probably damaging	Het
Nfe2	A	G	15: 103,159,378 (GRCm39)	I31T	probably damaging	Het
Nfe2l1	A	T	11: 96,708,570 (GRCm39)	F732I	probably benign	Het
Or4a39	C	G	2: 89,237,074 (GRCm39)	M116I	possibly damaging	Het
Or4c12b	T	A	2: 89,647,104 (GRCm39)	C145S	probably damaging	Het
Or52e19b	C	A	7: 103,032,403 (GRCm39)	V269F	possibly damaging	Het
Pax6	T	C	2: 105,523,199 (GRCm39)		probably null	Het
Phb1	A	G	11: 95,568,941 (GRCm39)	E192G	probably damaging	Het
Plekhn1	A	T	4: 156,309,650 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,046,189 (GRCm39)	V942E	probably damaging	Het
Potegl	T	A	2: 23,156,745 (GRCm39)		probably benign	Het
Rsrc2	G	A	5: 123,877,751 (GRCm39)		probably benign	Het
Septin8	G	A	11: 53,439,210 (GRCm39)	C460Y	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc16a7	A	G	10: 125,130,508 (GRCm39)	I59T	probably benign	Het
Slc35d1	A	T	4: 103,065,365 (GRCm39)	I172N	possibly damaging	Het
Smg5	A	T	3: 88,249,208 (GRCm39)	N40Y	possibly damaging	Het
Smurf1	A	G	5: 144,818,541 (GRCm39)	V633A	probably damaging	Het
Snx9	T	C	17: 5,937,324 (GRCm39)	V22A	probably damaging	Het
Sox6	A	T	7: 115,076,295 (GRCm39)	M741K	probably damaging	Het
Spata31d1d	T	C	13: 59,873,797 (GRCm39)	Q1246R	probably benign	Het
Sval1	A	G	6: 41,928,660 (GRCm39)	E24G	probably damaging	Het
Tas2r124	A	G	6: 132,731,867 (GRCm39)	I59V	probably benign	Het
Tmem151b	T	A	17: 45,857,992 (GRCm39)	T85S	probably benign	Het
Tpr	T	A	1: 150,317,996 (GRCm39)		probably null	Het
Trpm6	A	C	19: 18,831,472 (GRCm39)	T1446P	possibly damaging	Het
Tsc22d4	A	T	5: 137,766,441 (GRCm39)	K502N	possibly damaging	Het
Tssk3	C	T	4: 129,383,051 (GRCm39)	S207N	probably benign	Het
Ttbk1	G	T	17: 46,778,188 (GRCm39)	P618Q	probably damaging	Het
Ttll6	A	T	11: 96,047,371 (GRCm39)	M657L	probably benign	Het
Ubash3a	T	A	17: 31,434,069 (GRCm39)	I138N	probably benign	Het
Ush2a	A	G	1: 188,090,839 (GRCm39)	Y490C	probably damaging	Het
Vmn1r82	G	T	7: 12,039,461 (GRCm39)	V127F	probably damaging	Het
Vmn2r32	A	T	7: 7,479,691 (GRCm39)	S161T	possibly damaging	Het
Wdr49	T	C	3: 75,388,824 (GRCm39)	I58M	possibly damaging	Het
Wiz	A	T	17: 32,579,417 (GRCm39)		probably null	Het
Wrap53	A	T	11: 69,453,619 (GRCm39)	Y324*	probably null	Het
Zfp747	A	C	7: 126,975,138 (GRCm39)		probably benign	Het
Zfp827	A	G	8: 79,905,702 (GRCm39)	Y33C	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
R0972:Itga7	UTSW	10	128,778,746 (GRCm39)	missense	probably damaging	0.98
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
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'- TGATACCGCTGCTCTGTTCAG -3'
(R):5'- ACAGATCTTTATGTCCACACTGTG -3'

Sequencing Primer
(F):5'- AAATCCCCCTTGAAGGTGTG -3'
(R):5'- TGGGGCAAAGGGAGACTTCTTAG -3'

Posted On

2018-03-15