Mutagenetix > Incidental Mutation

Incidental Mutation 'R4756:Itgb1'

358020

Institutional Source

Beutler Lab

Gene Symbol

Itgb1

Ensembl Gene

ENSMUSG00000025809

Gene Name

integrin beta 1 (fibronectin receptor beta)

Synonyms

Gm9863, Fnrb, CD29, beta1 integrin, 4633401G24Rik

MMRRC Submission

041972-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4756 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129412135-129459681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129443703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 320 (A320T)

Ref Sequence

ENSEMBL: ENSMUSP00000087457 (fasta)

Gene Model

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

AlphaFold

P09055

Predicted Effect

probably damaging
Transcript: ENSMUST00000090006
AA Change: A320T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087457
Gene: ENSMUSG00000025809
AA Change: A320T

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,336,830 (GRCm39)	M45L	probably benign	Het
Acss2	T	C	2: 155,403,063 (GRCm39)	F627L	probably damaging	Het
Akap8	A	G	17: 32,535,184 (GRCm39)	S277P	probably damaging	Het
Akap9	T	A	5: 4,051,418 (GRCm39)	M1395K	probably damaging	Het
Ank1	A	G	8: 23,612,893 (GRCm39)	D1468G	probably benign	Het
Apoe	A	G	7: 19,430,846 (GRCm39)	V121A	probably benign	Het
Aqp9	A	T	9: 71,070,331 (GRCm39)	L12H	probably damaging	Het
Atp2b4	G	A	1: 133,639,529 (GRCm39)	A1115V	probably benign	Het
Atp2b4	G	A	1: 133,667,134 (GRCm39)	P139L	probably benign	Het
B430218F22Rik	T	C	13: 118,523,980 (GRCm39)		probably benign	Het
Bltp2	T	A	11: 78,154,854 (GRCm39)	L122H	probably damaging	Het
Brsk1	A	G	7: 4,711,866 (GRCm39)	E572G	possibly damaging	Het
C6	T	C	15: 4,811,394 (GRCm39)	I414T	probably benign	Het
C8b	T	A	4: 104,644,083 (GRCm39)	M250K	probably benign	Het
Camk1g	T	A	1: 193,044,393 (GRCm39)	E7V	probably benign	Het
Clcc1	A	G	3: 108,580,236 (GRCm39)		probably null	Het
Col4a3	G	T	1: 82,694,018 (GRCm39)		probably null	Het
Cox5b	T	A	1: 36,732,310 (GRCm39)	W104R	probably damaging	Het
Cyp2c55	A	C	19: 39,019,815 (GRCm39)	H251P	probably damaging	Het
Cyp2c67	G	A	19: 39,632,188 (GRCm39)	T60I	probably benign	Het
Defb42	T	A	14: 63,285,824 (GRCm39)	V68E	probably benign	Het
Ercc4	T	A	16: 12,941,287 (GRCm39)	I225N	probably damaging	Het
Fam120b	G	T	17: 15,622,658 (GRCm39)	C212F	probably damaging	Het
Fgf10	T	C	13: 118,918,045 (GRCm39)	V111A	probably benign	Het
Fn1	G	T	1: 71,629,967 (GRCm39)	T2186K	probably damaging	Het
Fras1	T	C	5: 96,929,518 (GRCm39)	V3974A	probably benign	Het
Galnt4	T	C	10: 98,944,362 (GRCm39)	V29A	probably benign	Het
Gpr26	T	C	7: 131,569,230 (GRCm39)	Y192H	probably damaging	Het
Heatr9	A	T	11: 83,407,475 (GRCm39)	L236Q	probably damaging	Het
Hivep3	C	A	4: 119,955,020 (GRCm39)	P1112H	probably damaging	Het
Hnf4g	A	G	3: 3,708,069 (GRCm39)	Y106C	possibly damaging	Het
Hnrnpdl	A	T	5: 100,185,783 (GRCm39)	Y69*	probably null	Het
Kcna2	T	C	3: 107,012,733 (GRCm39)	I438T	probably benign	Het
Kif24	A	G	4: 41,397,545 (GRCm39)		probably null	Het
Klhl1	G	A	14: 96,389,402 (GRCm39)	T584I	probably benign	Het
Ltbp1	A	G	17: 75,532,199 (GRCm39)	D91G	probably damaging	Het
Mdga2	T	C	12: 66,844,427 (GRCm39)	I190M	probably damaging	Het
Meis2	G	A	2: 115,830,686 (GRCm39)	R276C	probably damaging	Het
Mob4	C	T	1: 55,191,855 (GRCm39)	R190W	probably damaging	Het
Mrgpra2a	A	G	7: 47,077,114 (GRCm39)	I48T	possibly damaging	Het
Mst1	T	C	9: 107,960,826 (GRCm39)	V481A	probably benign	Het
Mttp	A	T	3: 137,821,832 (GRCm39)	V245E	possibly damaging	Het
Nbn	T	A	4: 15,981,470 (GRCm39)	S521T	probably benign	Het
Neb	G	T	2: 52,083,243 (GRCm39)	T5654N	probably damaging	Het
Nlrp9a	A	T	7: 26,256,866 (GRCm39)	K161N	probably damaging	Het
Nod2	T	G	8: 89,390,902 (GRCm39)	F388C	possibly damaging	Het
Or3a1	G	T	11: 74,225,402 (GRCm39)	F218L	probably benign	Het
Or4a75	G	T	2: 89,447,814 (GRCm39)	H241N	possibly damaging	Het
Or4f58	A	G	2: 111,851,332 (GRCm39)	F289S	possibly damaging	Het
Or52e2	A	T	7: 102,804,332 (GRCm39)	N207K	probably benign	Het
Or7a38	T	A	10: 78,753,361 (GRCm39)	I229N	probably damaging	Het
Or7g25	G	A	9: 19,160,153 (GRCm39)	L181F	possibly damaging	Het
P2ry1	A	G	3: 60,911,898 (GRCm39)	S346G	probably benign	Het
Polr1f	T	A	12: 33,487,679 (GRCm39)		probably null	Het
Prkcd	A	G	14: 30,321,623 (GRCm39)	F524L	probably benign	Het
Qrfprl	T	C	6: 65,429,898 (GRCm39)	I198T	probably benign	Het
Ramp3	A	T	11: 6,624,843 (GRCm39)	M46L	probably benign	Het
Rint1	T	C	5: 24,014,791 (GRCm39)	Y278H	probably damaging	Het
Skint11	C	T	4: 114,051,874 (GRCm39)	T74I	probably benign	Het
Slc10a7	T	C	8: 79,433,579 (GRCm39)		probably null	Het
Slc45a2	T	A	15: 11,028,016 (GRCm39)	Y528*	probably null	Het
Slit1	A	G	19: 41,637,452 (GRCm39)	F329L	probably damaging	Het
Sltm	A	T	9: 70,498,892 (GRCm39)	M989L	possibly damaging	Het
Smad9	A	T	3: 54,701,874 (GRCm39)	T372S	possibly damaging	Het
Snrpc	T	A	17: 28,061,306 (GRCm39)	Y38*	probably null	Het
Spag17	A	G	3: 100,010,701 (GRCm39)	K2065R	possibly damaging	Het
Stxbp4	T	A	11: 90,498,197 (GRCm39)	K87N	probably damaging	Het
Tbc1d23	AT	ATT	16: 57,019,258 (GRCm39)		probably null	Het
Tgfb1i1	A	T	7: 127,848,571 (GRCm39)	M96L	probably damaging	Het
Tnc	T	A	4: 63,885,580 (GRCm39)	I1841F	probably damaging	Het
Ubap2	G	T	4: 41,211,771 (GRCm39)	H63Q	probably damaging	Het
Vps13a	T	C	19: 16,632,580 (GRCm39)	N2592S	probably benign	Het
Xdh	G	A	17: 74,193,381 (GRCm39)	P1305L	probably benign	Het
Xrn1	G	A	9: 95,921,862 (GRCm39)	R1425K	probably benign	Het
Zfp418	G	A	7: 7,185,762 (GRCm39)	R575Q	possibly damaging	Het
Zfp608	T	A	18: 55,027,544 (GRCm39)	Q1424H	probably damaging	Het
Zfp839	C	A	12: 110,821,635 (GRCm39)	L150I	possibly damaging	Het

Other mutations in Itgb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Itgb1	APN	8	129,440,399 (GRCm39)	splice site	probably benign
IGL01407:Itgb1	APN	8	129,449,315 (GRCm39)	missense	probably benign	0.08
IGL03025:Itgb1	APN	8	129,449,065 (GRCm39)	missense	possibly damaging	0.96
Drystacked	UTSW	8	129,458,535 (GRCm39)	missense	possibly damaging	0.79
Jumble	UTSW	8	129,440,597 (GRCm39)	missense	probably damaging	1.00
PIT4377001:Itgb1	UTSW	8	129,436,864 (GRCm39)	missense	probably damaging	1.00
R0136:Itgb1	UTSW	8	129,449,335 (GRCm39)	missense	possibly damaging	0.96
R0244:Itgb1	UTSW	8	129,444,166 (GRCm39)	splice site	probably benign
R0483:Itgb1	UTSW	8	129,452,648 (GRCm39)	missense	possibly damaging	0.79
R0606:Itgb1	UTSW	8	129,448,853 (GRCm39)	unclassified	probably benign
R0657:Itgb1	UTSW	8	129,449,335 (GRCm39)	missense	possibly damaging	0.96
R0865:Itgb1	UTSW	8	129,436,732 (GRCm39)	critical splice acceptor site	probably null
R1052:Itgb1	UTSW	8	129,439,786 (GRCm39)	missense	probably damaging	1.00
R1429:Itgb1	UTSW	8	129,444,157 (GRCm39)	critical splice donor site	probably null
R1589:Itgb1	UTSW	8	129,431,940 (GRCm39)	missense	possibly damaging	0.95
R1589:Itgb1	UTSW	8	129,431,939 (GRCm39)	missense	probably damaging	0.99
R1614:Itgb1	UTSW	8	129,446,546 (GRCm39)	missense	probably damaging	1.00
R1672:Itgb1	UTSW	8	129,458,526 (GRCm39)	missense	probably damaging	1.00
R1723:Itgb1	UTSW	8	129,452,519 (GRCm39)	missense	probably damaging	0.98
R1865:Itgb1	UTSW	8	129,446,938 (GRCm39)	missense	probably benign	0.01
R3786:Itgb1	UTSW	8	129,439,839 (GRCm39)	missense	probably damaging	1.00
R4223:Itgb1	UTSW	8	129,440,624 (GRCm39)	missense	probably damaging	1.00
R4826:Itgb1	UTSW	8	129,446,789 (GRCm39)	missense	probably damaging	1.00
R4880:Itgb1	UTSW	8	129,442,631 (GRCm39)	missense	probably damaging	1.00
R5202:Itgb1	UTSW	8	129,446,491 (GRCm39)	missense	probably damaging	0.99
R5682:Itgb1	UTSW	8	129,453,549 (GRCm39)	splice site	probably null
R5935:Itgb1	UTSW	8	129,439,718 (GRCm39)	nonsense	probably null
R6156:Itgb1	UTSW	8	129,458,535 (GRCm39)	missense	possibly damaging	0.79
R6160:Itgb1	UTSW	8	129,446,764 (GRCm39)	missense	possibly damaging	0.95
R6248:Itgb1	UTSW	8	129,448,902 (GRCm39)	missense	possibly damaging	0.80
R6812:Itgb1	UTSW	8	129,431,891 (GRCm39)	splice site	probably null
R6869:Itgb1	UTSW	8	129,446,516 (GRCm39)	missense	probably benign	0.01
R7249:Itgb1	UTSW	8	129,446,885 (GRCm39)	missense	probably benign	0.28
R7496:Itgb1	UTSW	8	129,446,786 (GRCm39)	missense	probably benign
R7679:Itgb1	UTSW	8	129,446,929 (GRCm39)	missense	probably damaging	0.99
R7787:Itgb1	UTSW	8	129,453,499 (GRCm39)	missense	probably benign	0.32
R7800:Itgb1	UTSW	8	129,439,718 (GRCm39)	missense	possibly damaging	0.89
R8015:Itgb1	UTSW	8	129,448,882 (GRCm39)	missense	possibly damaging	0.79
R8687:Itgb1	UTSW	8	129,442,697 (GRCm39)	missense	probably damaging	1.00
R8709:Itgb1	UTSW	8	129,439,887 (GRCm39)	intron	probably benign
R8979:Itgb1	UTSW	8	129,448,951 (GRCm39)	missense	probably benign	0.05
R9243:Itgb1	UTSW	8	129,433,587 (GRCm39)	missense	probably benign	0.36
R9389:Itgb1	UTSW	8	129,433,637 (GRCm39)	missense	probably benign
R9398:Itgb1	UTSW	8	129,452,605 (GRCm39)	missense	probably damaging	1.00
Z1088:Itgb1	UTSW	8	129,439,850 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTTTCTTGAAAGCAGTCTGTGTGAG -3'
(R):5'- GGTTGTCAAATTCAGTCTAGCTACTG -3'

Sequencing Primer
(F):5'- GTGAGTGCTCTGATTATGAATGC -3'
(R):5'- GCTACTGAACATAATGCCTTGTGG -3'

Posted On

2015-11-11