Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01407:Itgb1'

79848

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itgb1

Ensembl Gene

ENSMUSG00000025809

Gene Name

integrin beta 1 (fibronectin receptor beta)

Synonyms

Gm9863, Fnrb, CD29, 4633401G24Rik, beta1 integrin

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01407

Quality Score

Status

Chromosome

Chromosomal Location

128685654-128733200 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128722834 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 578 (V578A)

Ref Sequence

ENSEMBL: ENSMUSP00000087457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090006] [ENSMUST00000124826]

Predicted Effect

probably benign
Transcript: ENSMUST00000090006
AA Change: V578A

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000087457
Gene: ENSMUSG00000025809
AA Change: V578A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PSI	26	76	3.01e-7	SMART
INB	34	464	2e-298	SMART
VWA	142	372	1.45e0	SMART
low complexity region	568	581	N/A	INTRINSIC
Pfam:EGF_2	599	630	8.8e-8	PFAM
Integrin_B_tail	640	728	4.58e-37	SMART
transmembrane domain	729	751	N/A	INTRINSIC
Integrin_b_cyt	752	798	3.43e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124826

SMART Domains

Protein: ENSMUSP00000120026
Gene: ENSMUSG00000025809

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PDB:3VI4\|D	21	51	2e-16	PDB
Blast:PSI	26	51	1e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000149116

SMART Domains

Protein: ENSMUSP00000119699
Gene: ENSMUSG00000025809

Domain	Start	End	E-Value	Type
Pfam:Integrin_B_tail	1	39	1.9e-12	PFAM
transmembrane domain	40	62	N/A	INTRINSIC
Integrin_b_cyt	63	109	8.77e-25	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants die at or soon after implantation. Tissue-specific knockouts exhibit skin blisters, hair-loss, brain and heart defects, and impaired immune responses, wound healing, and hematopoietic stem cell migration, respectively. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,245,944	D1140V	probably damaging	Het
Ak1	G	T	2: 32,633,495		probably benign	Het
Ano1	A	T	7: 144,637,111	L411H	probably benign	Het
Atad2	A	T	15: 58,104,525	N569K	probably benign	Het
Bst2	C	A	8: 71,537,186	R81L	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Chrna5	C	T	9: 55,004,399	T57M	possibly damaging	Het
Cp	A	T	3: 19,977,205	D602V	possibly damaging	Het
Drd2	T	C	9: 49,400,815	I156T	probably damaging	Het
Elp4	G	A	2: 105,792,308	R349W	probably damaging	Het
Eml6	G	A	11: 29,755,021	R1508*	probably null	Het
Etl4	T	C	2: 20,743,856	L335S	probably damaging	Het
Fat3	A	T	9: 16,378,023	I68K	probably benign	Het
Fyco1	G	T	9: 123,828,879	A744D	probably damaging	Het
Gm22165	G	T	3: 64,105,465		probably benign	Het
Gse1	T	C	8: 120,553,587	M1T	probably null	Het
Hs3st5	A	T	10: 36,833,408	H313L	probably damaging	Het
Hsd17b3	T	C	13: 64,062,905	Y212C	probably damaging	Het
Hyal5	G	T	6: 24,876,407	S93I	probably benign	Het
Klf12	A	T	14: 100,109,858	N12K	possibly damaging	Het
Krt40	C	T	11: 99,541,219	C222Y	probably damaging	Het
Lrrn2	T	C	1: 132,937,227	L10P	probably damaging	Het
Lrsam1	T	C	2: 32,947,903	Y213C	probably damaging	Het
Mitf	C	A	6: 98,017,931	T277K	possibly damaging	Het
Ncan	C	T	8: 70,101,957	R1070H	probably benign	Het
Nr4a3	A	G	4: 48,083,201	E578G	probably benign	Het
Patj	A	G	4: 98,413,050	T191A	possibly damaging	Het
Pign	A	G	1: 105,589,302	V533A	probably benign	Het
Smad5	G	A	13: 56,735,817	V339I	probably benign	Het
Spem2	T	A	11: 69,817,239	Y300F	possibly damaging	Het
Trank1	T	G	9: 111,364,722	S605A	probably damaging	Het
Treml4	T	A	17: 48,264,849	D93E	possibly damaging	Het
Tsc22d2	T	A	3: 58,416,503	V272E	probably damaging	Het
Vmn2r19	T	A	6: 123,329,867	F445I	possibly damaging	Het
Zfp712	T	A	13: 67,042,166	Q99L	possibly damaging	Het
Zfp719	A	T	7: 43,584,187	K10I	probably benign	Het

Other mutations in Itgb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Itgb1	APN	8	128713918	splice site	probably benign
IGL03025:Itgb1	APN	8	128722584	missense	possibly damaging	0.96
Drystacked	UTSW	8	128732054	missense	possibly damaging	0.79
Jumble	UTSW	8	128714116	missense	probably damaging	1.00
PIT4377001:Itgb1	UTSW	8	128710383	missense	probably damaging	1.00
R0136:Itgb1	UTSW	8	128722854	missense	possibly damaging	0.96
R0244:Itgb1	UTSW	8	128717685	splice site	probably benign
R0483:Itgb1	UTSW	8	128726167	missense	possibly damaging	0.79
R0606:Itgb1	UTSW	8	128722372	unclassified	probably benign
R0657:Itgb1	UTSW	8	128722854	missense	possibly damaging	0.96
R0865:Itgb1	UTSW	8	128710251	critical splice acceptor site	probably null
R1052:Itgb1	UTSW	8	128713305	missense	probably damaging	1.00
R1429:Itgb1	UTSW	8	128717676	critical splice donor site	probably null
R1589:Itgb1	UTSW	8	128705458	missense	probably damaging	0.99
R1589:Itgb1	UTSW	8	128705459	missense	possibly damaging	0.95
R1614:Itgb1	UTSW	8	128720065	missense	probably damaging	1.00
R1672:Itgb1	UTSW	8	128732045	missense	probably damaging	1.00
R1723:Itgb1	UTSW	8	128726038	missense	probably damaging	0.98
R1865:Itgb1	UTSW	8	128720457	missense	probably benign	0.01
R3786:Itgb1	UTSW	8	128713358	missense	probably damaging	1.00
R4223:Itgb1	UTSW	8	128714143	missense	probably damaging	1.00
R4756:Itgb1	UTSW	8	128717222	missense	probably damaging	0.98
R4826:Itgb1	UTSW	8	128720308	missense	probably damaging	1.00
R4880:Itgb1	UTSW	8	128716150	missense	probably damaging	1.00
R5202:Itgb1	UTSW	8	128720010	missense	probably damaging	0.99
R5682:Itgb1	UTSW	8	128727068	splice site	probably null
R5935:Itgb1	UTSW	8	128713237	nonsense	probably null
R6156:Itgb1	UTSW	8	128732054	missense	possibly damaging	0.79
R6160:Itgb1	UTSW	8	128720283	missense	possibly damaging	0.95
R6248:Itgb1	UTSW	8	128722421	missense	possibly damaging	0.80
R6812:Itgb1	UTSW	8	128705410	splice site	probably null
R6869:Itgb1	UTSW	8	128720035	missense	probably benign	0.01
R7249:Itgb1	UTSW	8	128720404	missense	probably benign	0.28
R7496:Itgb1	UTSW	8	128720305	missense	probably benign
R7679:Itgb1	UTSW	8	128720448	missense	probably damaging	0.99
R7787:Itgb1	UTSW	8	128727018	missense	probably benign	0.32
R7800:Itgb1	UTSW	8	128713237	missense	possibly damaging	0.89
R8015:Itgb1	UTSW	8	128722401	missense	possibly damaging	0.79
R8687:Itgb1	UTSW	8	128716216	missense	probably damaging	1.00
Z1088:Itgb1	UTSW	8	128713369	missense	probably damaging	0.99

Posted On

2013-11-05