Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01021:Itga1'

53943

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 #

IGL01021

Quality Score

Status

Chromosome

Chromosomal Location

115094615-115238500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115133536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 458 (Y458F)

Ref Sequence

ENSEMBL: ENSMUSP00000077132 (fasta)

Gene Model

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

AlphaFold

Q3V3R4

Predicted Effect

probably benign
Transcript: ENSMUST00000061673
AA Change: Y458F

PolyPhen 2 Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: Y458F

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 124,917,848 (GRCm39)	V80A	unknown	Het
Adam28	A	G	14: 68,879,563 (GRCm39)	S162P	probably benign	Het
Adamts14	G	T	10: 61,061,152 (GRCm39)	S426Y	probably damaging	Het
Ankrd24	A	G	10: 81,470,995 (GRCm39)		probably null	Het
B3galt5	C	A	16: 96,116,923 (GRCm39)	H185Q	probably benign	Het
Bod1l	A	G	5: 41,995,516 (GRCm39)		probably benign	Het
Ddx46	T	A	13: 55,814,145 (GRCm39)	Y700*	probably null	Het
Dph7	T	G	2: 24,861,935 (GRCm39)		probably null	Het
Eif1ad9	G	A	12: 88,296,042 (GRCm39)	G7R	unknown	Het
Fcho1	A	T	8: 72,166,167 (GRCm39)	Y354*	probably null	Het
Fnbp4	A	G	2: 90,608,013 (GRCm39)	M912V	probably benign	Het
Fpgt	T	A	3: 154,797,129 (GRCm39)	E42V	possibly damaging	Het
Frmd3	A	G	4: 73,992,357 (GRCm39)	I75V	possibly damaging	Het
Gm3278	G	T	14: 16,082,261 (GRCm39)	V159L	possibly damaging	Het
Gmds	T	C	13: 32,311,013 (GRCm39)	I205V	possibly damaging	Het
Gprin1	T	A	13: 54,888,182 (GRCm39)	S31C	probably damaging	Het
Igkv4-68	T	C	6: 69,281,865 (GRCm39)	E102G	probably damaging	Het
Kif20b	T	C	19: 34,915,660 (GRCm39)	V479A	possibly damaging	Het
Megf8	T	A	7: 25,037,799 (GRCm39)	W772R	probably benign	Het
Muc6	T	A	7: 141,217,075 (GRCm39)	I2533F	possibly damaging	Het
Npas3	T	C	12: 54,050,343 (GRCm39)	S258P	probably damaging	Het
Padi3	T	C	4: 140,523,645 (GRCm39)		probably benign	Het
Pmfbp1	G	T	8: 110,264,625 (GRCm39)	R897L	possibly damaging	Het
Rims1	A	T	1: 22,525,701 (GRCm39)	W407R	probably damaging	Het
Scnn1b	G	T	7: 121,517,259 (GRCm39)	D632Y	probably damaging	Het
Tas2r123	G	A	6: 132,824,369 (GRCm39)	A89T	probably benign	Het
Tbk1	T	C	10: 121,387,177 (GRCm39)	E706G	probably benign	Het
Thra	A	G	11: 98,653,754 (GRCm39)	D195G	possibly damaging	Het
Tpp2	T	A	1: 43,973,347 (GRCm39)	Y33*	probably null	Het
Usp6nl	T	A	2: 6,429,198 (GRCm39)	M220K	probably damaging	Het
Vmn2r112	C	T	17: 22,837,885 (GRCm39)	T782I	probably damaging	Het
Zbtb43	T	C	2: 33,343,771 (GRCm39)	T485A	probably benign	Het
Zfat	T	C	15: 68,042,015 (GRCm39)	I840V	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
IGL00587:Itga1	APN	13	115,148,785 (GRCm39)	missense	probably damaging	1.00
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

2013-06-28