Mutagenetix > Incidental Mutation

Incidental Mutation 'R3734:Itga1'

270015

Institutional Source

Beutler Lab

Gene Symbol

Itga1

Ensembl Gene

ENSMUSG00000042284

Gene Name

integrin alpha 1

Synonyms

E130012M19Rik, CD49A, Vla1

MMRRC Submission

040721-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

R3734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115094615-115238500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115114175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 910 (H910R)

Ref Sequence

ENSEMBL: ENSMUSP00000077132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061673]

AlphaFold

Q3V3R4

Predicted Effect

probably benign
Transcript: ENSMUST00000061673
AA Change: H910R

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

SMART Domains

Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: H910R

Domain	Start	End	E-Value	Type
Int_alpha	43	96	1.63e0	SMART
VWA	170	360	4.24e-44	SMART
Int_alpha	432	481	4.21e-3	SMART
Int_alpha	485	542	3.19e-12	SMART
Int_alpha	566	621	1.79e-15	SMART
Int_alpha	628	682	3.04e1	SMART
low complexity region	1108	1122	N/A	INTRINSIC
PDB:2L8S\|A	1135	1179	5e-10	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224865

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

95% (41/43)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are essentially normal although their kidneys are smaller and more succeptible to injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Ablim1	A	T	19: 57,037,892 (GRCm39)		probably null	Het
Blvra	A	T	2: 126,932,175 (GRCm39)		probably benign	Het
Ccdc87	G	T	19: 4,891,951 (GRCm39)	W814C	probably damaging	Het
Cyp2a4	A	G	7: 26,012,252 (GRCm39)	D345G	probably damaging	Het
Dsg2	T	C	18: 20,735,004 (GRCm39)	V994A	probably benign	Het
Edem1	T	C	6: 108,818,582 (GRCm39)	F197L	probably damaging	Het
Eps8l2	A	C	7: 140,937,734 (GRCm39)	Y418S	probably damaging	Het
Ergic2	T	C	6: 148,104,020 (GRCm39)	D79G	probably damaging	Het
Fcgr3	T	C	1: 170,885,443 (GRCm39)	M60V	probably benign	Het
Gldn	A	G	9: 54,245,946 (GRCm39)	K499R	possibly damaging	Het
Golga1	G	T	2: 38,940,182 (GRCm39)	Q141K	possibly damaging	Het
Ift122	A	G	6: 115,902,462 (GRCm39)		probably benign	Het
Iqcg	G	T	16: 32,873,996 (GRCm39)		probably benign	Het
Jak3	C	A	8: 72,129,225 (GRCm39)		probably benign	Het
Jrkl	A	G	9: 13,245,535 (GRCm39)	V42A	possibly damaging	Het
Kif2c	T	C	4: 117,019,843 (GRCm39)	S515G	probably benign	Het
Lag3	A	T	6: 124,887,103 (GRCm39)	S155T	probably benign	Het
Lsamp	T	C	16: 41,965,133 (GRCm39)	I330T	probably benign	Het
Map3k6	T	C	4: 132,975,707 (GRCm39)	S732P	possibly damaging	Het
Muc5b	C	T	7: 141,412,774 (GRCm39)	Q1907*	probably null	Het
Nap1l4	A	C	7: 143,088,132 (GRCm39)		probably benign	Het
Nipal3	T	C	4: 135,191,157 (GRCm39)	T325A	probably damaging	Het
Nol4	A	T	18: 22,903,921 (GRCm39)		probably benign	Het
Or2l13b	T	A	16: 19,349,398 (GRCm39)	I91F	probably damaging	Het
Otog	A	G	7: 45,937,792 (GRCm39)	T1834A	probably benign	Het
Panx1	GTTCTTCT	GTTCT	9: 14,917,467 (GRCm39)		probably benign	Het
Pbld2	T	C	10: 62,907,244 (GRCm39)	L161P	probably damaging	Het
Pcdha6	T	A	18: 37,102,454 (GRCm39)	V549E	probably damaging	Het
Robo2	A	C	16: 73,717,635 (GRCm39)	L1159W	possibly damaging	Het
Scmh1	T	A	4: 120,335,277 (GRCm39)	I154N	probably damaging	Het
Skor1	A	T	9: 63,047,350 (GRCm39)	L879Q	probably damaging	Het
Slc1a7	G	C	4: 107,834,841 (GRCm39)	R69P	probably damaging	Het
Stk4	T	A	2: 163,930,828 (GRCm39)	M143K	probably benign	Het
Tenm1	C	T	X: 41,772,944 (GRCm39)	V1023M	probably benign	Het
Tpte	G	A	8: 22,849,498 (GRCm39)	C575Y	probably damaging	Het
Ulk4	T	C	9: 121,091,055 (GRCm39)	K216E	probably benign	Het
Unc5d	T	C	8: 29,251,826 (GRCm39)	I216V	probably benign	Het
Vmn2r16	T	C	5: 109,478,280 (GRCm39)	S12P	probably benign	Het

Other mutations in Itga1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Itga1	APN	13	115,128,899 (GRCm39)	missense	possibly damaging	0.80
IGL00498:Itga1	APN	13	115,167,729 (GRCm39)	missense	probably benign	0.00
IGL00549:Itga1	APN	13	115,185,832 (GRCm39)	missense	possibly damaging	0.92
IGL00587:Itga1	APN	13	115,148,785 (GRCm39)	missense	probably damaging	1.00
IGL01021:Itga1	APN	13	115,133,536 (GRCm39)	missense	probably benign	0.29
IGL01289:Itga1	APN	13	115,122,762 (GRCm39)	missense	possibly damaging	0.79
IGL01636:Itga1	APN	13	115,143,484 (GRCm39)	missense	possibly damaging	0.73
IGL01791:Itga1	APN	13	115,124,197 (GRCm39)	missense	probably benign	0.00
IGL01796:Itga1	APN	13	115,121,657 (GRCm39)	missense	probably damaging	1.00
IGL02027:Itga1	APN	13	115,126,591 (GRCm39)	splice site	probably null
IGL02330:Itga1	APN	13	115,148,740 (GRCm39)	missense	probably damaging	1.00
IGL02480:Itga1	APN	13	115,124,184 (GRCm39)	missense	probably damaging	1.00
IGL02943:Itga1	APN	13	115,185,832 (GRCm39)	missense	possibly damaging	0.92
R0103:Itga1	UTSW	13	115,152,790 (GRCm39)	missense	probably benign	0.40
R0103:Itga1	UTSW	13	115,152,790 (GRCm39)	missense	probably benign	0.40
R0244:Itga1	UTSW	13	115,143,433 (GRCm39)	splice site	probably benign
R0265:Itga1	UTSW	13	115,128,995 (GRCm39)	missense	probably benign
R0302:Itga1	UTSW	13	115,148,854 (GRCm39)	splice site	probably benign
R0320:Itga1	UTSW	13	115,114,130 (GRCm39)	splice site	probably benign
R0389:Itga1	UTSW	13	115,128,996 (GRCm39)	missense	probably benign	0.04
R0443:Itga1	UTSW	13	115,128,996 (GRCm39)	missense	probably benign	0.04
R0574:Itga1	UTSW	13	115,103,097 (GRCm39)	missense	probably damaging	1.00
R0646:Itga1	UTSW	13	115,104,835 (GRCm39)	missense	probably benign
R0830:Itga1	UTSW	13	115,143,568 (GRCm39)	missense	probably benign	0.08
R2162:Itga1	UTSW	13	115,167,446 (GRCm39)	missense	probably benign	0.23
R2216:Itga1	UTSW	13	115,133,565 (GRCm39)	missense	probably benign	0.00
R2403:Itga1	UTSW	13	115,114,150 (GRCm39)	missense	probably benign	0.00
R4171:Itga1	UTSW	13	115,167,422 (GRCm39)	nonsense	probably null
R4402:Itga1	UTSW	13	115,138,102 (GRCm39)	missense	probably benign	0.00
R4675:Itga1	UTSW	13	115,138,227 (GRCm39)	splice site	probably null
R4684:Itga1	UTSW	13	115,185,906 (GRCm39)	missense	probably damaging	1.00
R4795:Itga1	UTSW	13	115,171,921 (GRCm39)	missense	probably damaging	1.00
R4796:Itga1	UTSW	13	115,171,921 (GRCm39)	missense	probably damaging	1.00
R4845:Itga1	UTSW	13	115,110,708 (GRCm39)	nonsense	probably null
R5147:Itga1	UTSW	13	115,121,678 (GRCm39)	missense	possibly damaging	0.91
R5155:Itga1	UTSW	13	115,171,839 (GRCm39)	missense	probably benign
R5234:Itga1	UTSW	13	115,185,839 (GRCm39)	nonsense	probably null
R5344:Itga1	UTSW	13	115,138,845 (GRCm39)	missense	possibly damaging	0.78
R5554:Itga1	UTSW	13	115,129,010 (GRCm39)	nonsense	probably null
R5662:Itga1	UTSW	13	115,122,707 (GRCm39)	missense	probably benign	0.03
R5945:Itga1	UTSW	13	115,103,126 (GRCm39)	missense	probably benign	0.02
R6150:Itga1	UTSW	13	115,104,769 (GRCm39)	missense	probably benign	0.01
R6241:Itga1	UTSW	13	115,096,673 (GRCm39)	splice site	probably null
R6276:Itga1	UTSW	13	115,117,388 (GRCm39)	missense	probably benign
R6369:Itga1	UTSW	13	115,102,196 (GRCm39)	missense	probably damaging	1.00
R6511:Itga1	UTSW	13	115,129,037 (GRCm39)	missense	probably damaging	0.98
R6663:Itga1	UTSW	13	115,110,641 (GRCm39)	missense	probably benign	0.02
R6783:Itga1	UTSW	13	115,133,513 (GRCm39)	missense	probably benign	0.22
R6931:Itga1	UTSW	13	115,138,099 (GRCm39)	missense	probably benign	0.39
R7069:Itga1	UTSW	13	115,104,776 (GRCm39)	missense	probably damaging	1.00
R7458:Itga1	UTSW	13	115,122,802 (GRCm39)	missense	probably benign	0.00
R7588:Itga1	UTSW	13	115,104,785 (GRCm39)	missense	possibly damaging	0.88
R7591:Itga1	UTSW	13	115,119,315 (GRCm39)	missense	probably damaging	1.00
R7597:Itga1	UTSW	13	115,110,676 (GRCm39)	missense	probably benign	0.28
R7615:Itga1	UTSW	13	115,133,458 (GRCm39)	missense	probably null	0.99
R7756:Itga1	UTSW	13	115,128,996 (GRCm39)	missense	probably benign	0.04
R7795:Itga1	UTSW	13	115,148,772 (GRCm39)	missense	probably damaging	1.00
R7819:Itga1	UTSW	13	115,185,837 (GRCm39)	missense	probably damaging	0.99
R8193:Itga1	UTSW	13	115,104,991 (GRCm39)	critical splice donor site	probably null
R8313:Itga1	UTSW	13	115,103,120 (GRCm39)	missense	probably benign	0.06
R8419:Itga1	UTSW	13	115,143,604 (GRCm39)	missense	probably damaging	1.00
R8925:Itga1	UTSW	13	115,105,055 (GRCm39)	missense	probably benign	0.01
R8927:Itga1	UTSW	13	115,105,055 (GRCm39)	missense	probably benign	0.01
R8951:Itga1	UTSW	13	115,107,027 (GRCm39)	nonsense	probably null
R9099:Itga1	UTSW	13	115,185,856 (GRCm39)	missense	probably damaging	1.00
R9200:Itga1	UTSW	13	115,104,997 (GRCm39)	missense	possibly damaging	0.80
R9221:Itga1	UTSW	13	115,166,695 (GRCm39)	nonsense	probably null
R9249:Itga1	UTSW	13	115,185,834 (GRCm39)	missense	probably damaging	1.00
R9267:Itga1	UTSW	13	115,185,924 (GRCm39)	missense	possibly damaging	0.50
R9376:Itga1	UTSW	13	115,107,112 (GRCm39)	missense	probably benign	0.07
R9481:Itga1	UTSW	13	115,152,753 (GRCm39)	missense	probably benign	0.34
R9789:Itga1	UTSW	13	115,171,820 (GRCm39)	nonsense	probably null
Z1177:Itga1	UTSW	13	115,121,607 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAGGTTGGCAGATATAAGTGATGTG -3'
(R):5'- GGCTGTACTTTGTAAGCCAATG -3'

Sequencing Primer
(F):5'- TGTGTAGTTACAAGATAGTCTACAGC -3'
(R):5'- GTGGATGTATTCCTCATCTG -3'

Posted On

2015-03-18