Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01796:Itga1'

155345

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 #

IGL01796

Quality Score

Status

Chromosome

Chromosomal Location

115094615-115238500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115121657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 784 (E784G)

Ref Sequence

ENSEMBL: ENSMUSP00000077132 (fasta)

Gene Model

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

AlphaFold

Q3V3R4

Predicted Effect

probably damaging
Transcript: ENSMUST00000061673
AA Change: E784G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: E784G

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,590,273 (GRCm39)	Y511H	probably damaging	Het
Abca7	T	G	10: 79,849,743 (GRCm39)	Y1948D	probably damaging	Het
Adgrl2	C	A	3: 148,564,611 (GRCm39)	G319V	probably damaging	Het
Adgrv1	T	A	13: 81,715,461 (GRCm39)	D909V	probably benign	Het
Anapc16	T	C	10: 59,824,579 (GRCm39)	E119G	possibly damaging	Het
C1qtnf12	T	C	4: 156,050,886 (GRCm39)	V285A	possibly damaging	Het
Cbr1	A	C	16: 93,405,119 (GRCm39)	N89T	probably damaging	Het
Cdh23	T	A	10: 60,146,916 (GRCm39)	Q2778L	probably benign	Het
Clca4c-ps	A	G	3: 144,595,340 (GRCm39)		noncoding transcript	Het
Cst9	T	C	2: 148,677,269 (GRCm39)	F47L	probably damaging	Het
Dqx1	T	C	6: 83,043,408 (GRCm39)		probably benign	Het
Dus4l	T	C	12: 31,692,794 (GRCm39)	S150G	probably benign	Het
E2f2	A	T	4: 135,907,728 (GRCm39)	K142*	probably null	Het
Eif2ak4	T	A	2: 118,276,785 (GRCm39)	H169Q	probably benign	Het
Fmo9	C	T	1: 166,490,904 (GRCm39)	A525T	probably benign	Het
Gm42878	T	C	5: 121,683,247 (GRCm39)	D6G	probably benign	Het
Igfals	A	G	17: 25,099,056 (GRCm39)	Y49C	probably damaging	Het
Il22b	T	C	10: 118,126,069 (GRCm39)	N176S	possibly damaging	Het
Ipo7	T	C	7: 109,629,055 (GRCm39)		probably benign	Het
Jcad	G	T	18: 4,672,855 (GRCm39)	E206*	probably null	Het
Kif24	A	T	4: 41,392,978 (GRCm39)		probably benign	Het
Lrrc2	T	A	9: 110,809,886 (GRCm39)		probably null	Het
Ltbp1	A	G	17: 75,534,240 (GRCm39)		probably benign	Het
Man2c1	C	T	9: 57,045,244 (GRCm39)	T451I	possibly damaging	Het
Manba	T	A	3: 135,248,150 (GRCm39)	N346K	probably damaging	Het
Nell1	T	C	7: 49,825,964 (GRCm39)		probably benign	Het
Nfat5	T	C	8: 108,094,273 (GRCm39)	V744A	probably damaging	Het
Nms	T	C	1: 38,985,192 (GRCm39)	M98T	possibly damaging	Het
Nos1	A	T	5: 118,076,339 (GRCm39)	K1120*	probably null	Het
Or11g25	C	A	14: 50,722,998 (GRCm39)	Q28K	probably benign	Het
Plekho1	C	T	3: 95,898,147 (GRCm39)	R172H	probably damaging	Het
Pot1b	A	T	17: 55,976,750 (GRCm39)	C391S	possibly damaging	Het
Scn1a	G	A	2: 66,162,645 (GRCm39)		probably benign	Het
Sgce	T	G	6: 4,711,326 (GRCm39)	N149H	probably damaging	Het
Slc45a1	A	G	4: 150,728,426 (GRCm39)	W126R	probably damaging	Het
Slc9a1	G	A	4: 133,147,404 (GRCm39)		probably benign	Het
Tmem131l	T	A	3: 83,845,362 (GRCm39)	K423*	probably null	Het
Tnrc18	C	T	5: 142,750,642 (GRCm39)	E1444K	possibly damaging	Het
Tpp1	T	C	7: 105,396,857 (GRCm39)		probably benign	Het
Trip12	A	C	1: 84,705,999 (GRCm39)	S610R	probably benign	Het
Ushbp1	G	T	8: 71,840,076 (GRCm39)	A525E	probably benign	Het
Vmn2r106	A	T	17: 20,488,314 (GRCm39)	M695K	possibly damaging	Het
Vmn2r118	A	G	17: 55,915,585 (GRCm39)	I455T	probably benign	Het
Zbtb41	T	C	1: 139,370,621 (GRCm39)	F686S	probably 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
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
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

2014-02-04