Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00587:Itga1'

11496

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itga1

Ensembl Gene

ENSMUSG00000042284

Gene Name

integrin alpha 1

Synonyms

E130012M19Rik, CD49A, Vla1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

IGL00587

Quality Score

Status

Chromosome

Chromosomal Location

115094615-115238500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115148785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 279 (V279L)

Ref Sequence

ENSEMBL: ENSMUSP00000077132 (fasta)

Gene Model

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

AlphaFold

Q3V3R4

Predicted Effect

probably damaging
Transcript: ENSMUST00000061673
AA Change: V279L

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

SMART Domains

Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: V279L

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: ENSMUST00000224119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224865

Coding Region Coverage

Validation Efficiency

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo2	A	C	15: 97,143,327 (GRCm39)	M365R	possibly damaging	Het
Atat1	T	C	17: 36,208,775 (GRCm39)	D352G	probably benign	Het
Bbs12	A	G	3: 37,374,346 (GRCm39)	T265A	probably damaging	Het
Cd300c	A	T	11: 114,850,616 (GRCm39)	N62K	probably benign	Het
Cdk5rap3	A	G	11: 96,804,225 (GRCm39)	S43P	probably damaging	Het
Chchd6	A	T	6: 89,546,399 (GRCm39)		probably null	Het
Cr2	C	T	1: 194,836,559 (GRCm39)	R868Q	possibly damaging	Het
Cyp2d9	T	C	15: 82,339,344 (GRCm39)	S126P	possibly damaging	Het
Dsg3	T	A	18: 20,672,711 (GRCm39)	I794N	probably damaging	Het
Fga	A	T	3: 82,937,596 (GRCm39)	S158C	possibly damaging	Het
Gm14240	T	C	2: 155,894,870 (GRCm39)		probably null	Het
Kdm1b	T	C	13: 47,222,016 (GRCm39)	V485A	probably benign	Het
Mfap3l	T	C	8: 61,124,943 (GRCm39)	V395A	probably benign	Het
Nlrp14	T	A	7: 106,780,974 (GRCm39)	V57E	probably benign	Het
P2ry12	A	T	3: 59,125,303 (GRCm39)	I124K	probably damaging	Het
Paxip1	A	G	5: 27,977,550 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,470,222 (GRCm39)		probably benign	Het
Rab28	T	C	5: 41,860,799 (GRCm39)	R52G	probably benign	Het
Rrp15	T	C	1: 186,453,745 (GRCm39)		probably null	Het
Sel1l2	G	A	2: 140,085,864 (GRCm39)	L539F	possibly damaging	Het
Ticam2	T	C	18: 46,693,880 (GRCm39)	E69G	probably benign	Het
Zcchc2	T	A	1: 105,957,993 (GRCm39)	S821R	probably benign	Het
Zcchc4	T	A	5: 52,973,511 (GRCm39)	S379T	probably benign	Het
Zfp53	T	C	17: 21,728,600 (GRCm39)	V211A	probably benign	Het
Zmym2	T	G	14: 57,140,817 (GRCm39)	S219A	possibly damaging	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
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
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

Posted On

2012-12-06