Mutagenetix > Incidental Mutation

Incidental Mutation 'R0574:Itga1'

46587

Institutional Source

Beutler Lab

Gene Symbol

Itga1

Ensembl Gene

ENSMUSG00000042284

Gene Name

integrin alpha 1

Synonyms

E130012M19Rik, CD49A, Vla1

MMRRC Submission

038764-MU

Accession Numbers

Essential gene?

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

Stock #

R0574 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115094615-115238500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 115103097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1111 (S1111R)

Ref Sequence

ENSEMBL: ENSMUSP00000077132 (fasta)

Gene Model

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

AlphaFold

Q3V3R4

Predicted Effect

probably damaging
Transcript: ENSMUST00000061673
AA Change: S1111R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: S1111R

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

Meta Mutation Damage Score

0.1013

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

100% (34/34)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700099C18Rik	T	C	17: 95,068,919 (GRCm39)		noncoding transcript	Het
Abca14	A	G	7: 119,823,720 (GRCm39)	I416V	probably damaging	Het
Actrt3	T	C	3: 30,653,829 (GRCm39)	E57G	probably benign	Het
Adamts5	A	G	16: 85,696,372 (GRCm39)	S262P	probably damaging	Het
Aldh1a2	T	C	9: 71,188,990 (GRCm39)		probably null	Het
Arhgap29	A	G	3: 121,801,274 (GRCm39)	I670V	probably benign	Het
Bptf	T	C	11: 106,967,353 (GRCm39)	D1009G	probably damaging	Het
Ddr2	G	T	1: 169,809,532 (GRCm39)		probably benign	Het
Ift140	T	A	17: 25,270,734 (GRCm39)		probably null	Het
Klk1b27	T	A	7: 43,705,525 (GRCm39)	L199Q	probably damaging	Het
Lhx3	T	C	2: 26,091,323 (GRCm39)	S329G	probably benign	Het
Man2b1	T	G	8: 85,823,405 (GRCm39)	M913R	probably benign	Het
Mmp15	G	A	8: 96,092,029 (GRCm39)	A80T	possibly damaging	Het
Mpo	A	T	11: 87,686,902 (GRCm39)	Y177F	probably damaging	Het
Mynn	T	C	3: 30,670,888 (GRCm39)	S587P	probably benign	Het
Nfkbib	C	T	7: 28,461,213 (GRCm39)	V145I	probably benign	Het
Or1o3	G	T	17: 37,573,772 (GRCm39)	S261Y	probably damaging	Het
Or4k15	A	T	14: 50,364,139 (GRCm39)	Y35F	probably damaging	Het
Or6k8-ps1	T	C	1: 173,979,132 (GRCm39)	F17L	probably benign	Het
Pole2	G	A	12: 69,258,231 (GRCm39)		probably benign	Het
Ppargc1b	C	T	18: 61,435,810 (GRCm39)	G906D	probably benign	Het
Prl8a2	T	A	13: 27,532,883 (GRCm39)	C32S	probably damaging	Het
Rhno1	A	T	6: 128,335,113 (GRCm39)		probably null	Het
Rprd2	T	C	3: 95,681,669 (GRCm39)	E408G	possibly damaging	Het
Ryr2	T	A	13: 11,746,555 (GRCm39)	H1999L	probably benign	Het
Shprh	T	C	10: 11,038,821 (GRCm39)		probably benign	Het
Snx3	T	A	10: 42,378,383 (GRCm39)	N19K	probably benign	Het
Stx8	C	T	11: 67,864,078 (GRCm39)	T46M	probably damaging	Het
Tbc1d17	A	G	7: 44,492,547 (GRCm39)		probably benign	Het
Ush1c	A	G	7: 45,846,228 (GRCm39)	S855P	possibly damaging	Het
Usp54	A	G	14: 20,606,322 (GRCm39)	V1338A	probably benign	Het
Vmn1r214	A	G	13: 23,218,663 (GRCm39)	I52M	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
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
R3734:Itga1	UTSW	13	115,114,175 (GRCm39)	missense	probably benign
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'- ATGAGCGTCCGTTCAATCGCTG -3'
(R):5'- TGTGGCACGCCATATTCATGATGTAAG -3'

Sequencing Primer
(F):5'- GTTCAATCGCTGCTTACACC -3'
(R):5'- ggaaagaggggagcacaag -3'

Posted On

2013-06-11