Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02027:Itga1'

184234

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?

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

Stock #

IGL02027

Quality Score

Status

Chromosome

Chromosomal Location

115094615-115238500 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 115126591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000077132 (fasta)

Gene Model

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

AlphaFold

Q3V3R4

Predicted Effect

probably null
Transcript: ENSMUST00000061673

SMART Domains

Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipor1	A	G	1: 134,358,923 (GRCm39)	T312A	probably benign	Het
Begain	T	G	12: 109,000,235 (GRCm39)	K384Q	possibly damaging	Het
C2cd6	T	C	1: 59,099,763 (GRCm39)	I393V	probably benign	Het
Catsperz	A	G	19: 6,902,664 (GRCm39)	V5A	probably benign	Het
Cbx1	T	A	11: 96,692,315 (GRCm39)	F67L	probably damaging	Het
Ccn2	A	G	10: 24,472,307 (GRCm39)	S117G	probably damaging	Het
Ccn3	T	C	15: 54,611,330 (GRCm39)	V155A	probably damaging	Het
Cerkl	T	C	2: 79,171,630 (GRCm39)		probably benign	Het
Cubn	G	T	2: 13,292,405 (GRCm39)	D3259E	probably damaging	Het
Cyp2u1	A	G	3: 131,091,600 (GRCm39)	Y307H	probably damaging	Het
Dcaf6	A	C	1: 165,251,910 (GRCm39)	D71E	probably damaging	Het
Dclk3	A	T	9: 111,296,911 (GRCm39)	K152*	probably null	Het
Fcgbp	G	A	7: 27,774,629 (GRCm39)	D68N	probably damaging	Het
Gm6576	A	G	15: 27,025,952 (GRCm39)		noncoding transcript	Het
Has2	T	C	15: 56,531,567 (GRCm39)	T383A	probably damaging	Het
Htr1f	T	A	16: 64,746,684 (GRCm39)	K203*	probably null	Het
Il36g	A	T	2: 24,082,797 (GRCm39)	I191L	probably benign	Het
Iqgap3	T	C	3: 87,994,649 (GRCm39)	I116T	possibly damaging	Het
Kif5b	T	C	18: 6,209,089 (GRCm39)	D891G	possibly damaging	Het
Krt74	T	C	15: 101,665,229 (GRCm39)		noncoding transcript	Het
Lama3	A	G	18: 12,649,570 (GRCm39)	K1776E	probably damaging	Het
Lats1	T	C	10: 7,588,712 (GRCm39)	S1110P	probably benign	Het
Lipo3	T	A	19: 33,557,919 (GRCm39)	K158*	probably null	Het
Lrrc9	T	A	12: 72,517,108 (GRCm39)		probably benign	Het
Met	A	G	6: 17,563,726 (GRCm39)		probably benign	Het
Mmp13	A	G	9: 7,272,955 (GRCm39)	Y105C	probably damaging	Het
Mtus1	T	C	8: 41,446,638 (GRCm39)	E1151G	probably damaging	Het
Nptx1	T	C	11: 119,435,422 (GRCm39)	D298G	possibly damaging	Het
Odad4	C	T	11: 100,460,728 (GRCm39)	T495M	probably damaging	Het
Pdlim1	T	C	19: 40,231,910 (GRCm39)	N156S	probably benign	Het
Pdzk1	A	G	3: 96,761,989 (GRCm39)		probably benign	Het
Pex5	A	G	6: 124,375,847 (GRCm39)	S448P	probably benign	Het
Polr3e	G	T	7: 120,530,186 (GRCm39)	R124L	probably damaging	Het
Ppp2r2c	C	T	5: 37,109,816 (GRCm39)	R392C	probably damaging	Het
Prpf4b	T	C	13: 35,073,554 (GRCm39)	I543T	probably benign	Het
Prr27	A	G	5: 87,991,302 (GRCm39)	S305G	possibly damaging	Het
Repin1	A	G	6: 48,573,407 (GRCm39)	H56R	probably damaging	Het
Ryr2	A	T	13: 11,611,998 (GRCm39)	L408H	probably damaging	Het
Sbf2	T	A	7: 110,060,348 (GRCm39)	Q205H	probably damaging	Het
Sgo2b	G	A	8: 64,379,863 (GRCm39)	P990S	probably benign	Het
Slc33a1	G	T	3: 63,855,562 (GRCm39)	P361Q	probably damaging	Het
Tmem98	T	C	11: 80,706,483 (GRCm39)		probably benign	Het
Vmn1r16	T	C	6: 57,300,044 (GRCm39)	T193A	possibly damaging	Het
Vmn1r5	T	A	6: 56,962,640 (GRCm39)	I105K	probably damaging	Het
Zfp473	A	T	7: 44,387,462 (GRCm39)		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
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

2014-05-07