Mutagenetix > Incidental Mutation

Incidental Mutation 'R7787:Itgb1'

599597

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

045843-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7787 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129412135-129459681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129453499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 99 (N99K)

Gene Model

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

AlphaFold

P09055

Predicted Effect

probably benign
Transcript: ENSMUST00000090006

SMART Domains

Protein: ENSMUSP00000087457
Gene: ENSMUSG00000025809

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
AA Change: N99K

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119699
Gene: ENSMUSG00000025809
AA Change: N99K

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

Meta Mutation Damage Score

0.1003

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (74/74)

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
2310022A10Rik	T	A	7: 27,263,926 (GRCm39)	I38N	probably damaging	Het
Abcb4	G	A	5: 8,959,220 (GRCm39)	V216M	probably damaging	Het
Abcc2	G	A	19: 43,772,685 (GRCm39)	V32M	probably damaging	Het
Adgrb3	C	A	1: 25,471,625 (GRCm39)	V714F	probably damaging	Het
Ahnak	T	A	19: 8,986,679 (GRCm39)	D2654E	unknown	Het
Ak8	T	A	2: 28,602,324 (GRCm39)	I86N	probably damaging	Het
Apob	G	A	12: 8,040,780 (GRCm39)	R635Q	probably damaging	Het
Atp10b	G	A	11: 43,150,700 (GRCm39)	R1466H	possibly damaging	Het
Bltp1	A	C	3: 36,939,557 (GRCm39)	H137P	probably damaging	Het
Btnl9	T	C	11: 49,066,866 (GRCm39)	T252A	unknown	Het
Cacna1e	T	A	1: 154,358,314 (GRCm39)	I648F	probably damaging	Het
Camkk1	A	G	11: 72,917,412 (GRCm39)	D121G	probably benign	Het
Cc2d1a	C	A	8: 84,860,144 (GRCm39)	Q904H	possibly damaging	Het
Cd1d1	A	G	3: 86,904,903 (GRCm39)	S212P	probably damaging	Het
Cfap69	C	T	5: 5,639,260 (GRCm39)	C638Y	probably damaging	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Clca4a	A	G	3: 144,659,594 (GRCm39)	V754A	probably benign	Het
Cnpy4	T	A	5: 138,190,900 (GRCm39)	H187Q	probably benign	Het
Cpne5	A	T	17: 29,407,261 (GRCm39)		probably null	Het
Crnkl1	A	T	2: 145,767,515 (GRCm39)	N359K	probably benign	Het
Cyb561	A	T	11: 105,828,466 (GRCm39)	L63H	probably damaging	Het
Dock4	A	G	12: 40,775,676 (GRCm39)	T540A	probably benign	Het
Edc4	T	A	8: 106,614,146 (GRCm39)	Y7*	probably null	Het
Fstl5	A	C	3: 76,337,131 (GRCm39)	D230A	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hecw1	T	C	13: 14,493,494 (GRCm39)	Q337R	probably damaging	Het
Hmcn1	A	T	1: 150,632,343 (GRCm39)	Y865N	probably damaging	Het
Hyal6	A	G	6: 24,743,735 (GRCm39)	Y477C	probably damaging	Het
Ifi205	C	T	1: 173,842,640 (GRCm39)	G352E	probably damaging	Het
Ifi205	T	A	1: 173,842,644 (GRCm39)	S351C	probably damaging	Het
Irak3	C	A	10: 120,012,256 (GRCm39)	Q169H	probably benign	Het
Kng2	A	G	16: 22,818,598 (GRCm39)	F298S	probably damaging	Het
Kri1	T	C	9: 21,192,380 (GRCm39)	E256G		Het
Lamc3	T	C	2: 31,790,551 (GRCm39)	I257T	probably damaging	Het
Mas1	A	C	17: 13,061,374 (GRCm39)	N16K	possibly damaging	Het
Mdn1	T	A	4: 32,741,794 (GRCm39)	L3855Q	probably damaging	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Mybph	G	A	1: 134,125,246 (GRCm39)	G258D	probably benign	Het
Mycbp2	A	C	14: 103,364,533 (GRCm39)	H4358Q	probably damaging	Het
Nat10	T	C	2: 103,552,208 (GRCm39)	D1012G	unknown	Het
Nub1	C	A	5: 24,913,801 (GRCm39)	Q561K	probably benign	Het
Nynrin	A	G	14: 56,107,980 (GRCm39)	N1029S	probably benign	Het
Or52x1	A	T	7: 104,853,252 (GRCm39)	C99*	probably null	Het
Or56a4	T	G	7: 104,806,401 (GRCm39)	I163L	probably benign	Het
Or5k15	A	G	16: 58,709,953 (GRCm39)	F210S	probably benign	Het
Or6e1	A	G	14: 54,520,169 (GRCm39)	L61P	probably damaging	Het
Or8g19	C	T	9: 39,055,548 (GRCm39)	L51F	probably benign	Het
Pcsk1	T	A	13: 75,280,277 (GRCm39)	Y701N	possibly damaging	Het
Pglyrp4	C	G	3: 90,640,295 (GRCm39)	H182D	probably damaging	Het
Phaf1	T	G	8: 105,957,820 (GRCm39)	V42G	probably damaging	Het
Pkp4	C	A	2: 59,152,881 (GRCm39)	D576E	probably damaging	Het
Plec	A	G	15: 76,083,811 (GRCm39)	V17A	unknown	Het
Polq	T	A	16: 36,837,671 (GRCm39)	N194K	probably damaging	Het
Pou4f1	A	T	14: 104,703,460 (GRCm39)	M324K	unknown	Het
Ppa2	G	T	3: 133,036,259 (GRCm39)	G138W	probably damaging	Het
Prob1	A	T	18: 35,785,285 (GRCm39)	F990I	possibly damaging	Het
Proser1	T	A	3: 53,380,969 (GRCm39)	I182N	probably damaging	Het
Sgk3	T	C	1: 9,952,016 (GRCm39)	L214P	probably damaging	Het
Sipa1l1	T	C	12: 82,496,762 (GRCm39)	S1765P	possibly damaging	Het
Slc15a2	G	A	16: 36,572,228 (GRCm39)	S712L	probably benign	Het
Slc38a9	T	C	13: 112,825,880 (GRCm39)	L106P	probably damaging	Het
Slc43a2	G	A	11: 75,453,900 (GRCm39)	R271H	probably damaging	Het
Spsb4	T	A	9: 96,877,643 (GRCm39)	I227F	probably damaging	Het
Srgap3	C	T	6: 112,752,520 (GRCm39)	M321I	probably benign	Het
Stam2	T	C	2: 52,596,418 (GRCm39)	I340V	probably benign	Het
Tbc1d5	T	A	17: 51,181,711 (GRCm39)	R341*	probably null	Het
Terf2ip	A	C	8: 112,742,087 (GRCm39)	E260D	probably damaging	Het
Tert	G	T	13: 73,797,051 (GRCm39)	K1096N	probably damaging	Het
Ttc32	T	A	12: 9,088,083 (GRCm39)	D103E	probably benign	Het
Ube3d	T	A	9: 86,254,395 (GRCm39)	Q362L	possibly damaging	Het
Unc5c	G	A	3: 141,474,313 (GRCm39)	G295D	probably damaging	Het
Wnt7b	T	A	15: 85,428,112 (GRCm39)	I117F	probably damaging	Het
Zcchc7	T	C	4: 44,895,043 (GRCm39)		probably null	Het
Zfp619	A	G	7: 39,186,226 (GRCm39)	Q752R	possibly damaging	Het
Zkscan3	T	C	13: 21,572,034 (GRCm39)	K533E	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
R4756:Itgb1	UTSW	8	129,443,703 (GRCm39)	missense	probably damaging	0.98
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
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'- AGGTAGTTGGATAAATGTTGCCTC -3'
(R):5'- TGGTAAAGTCCTTCCAAGCAC -3'

Sequencing Primer
(F):5'- CATTTTGACACACTACAGTTAGGTTG -3'
(R):5'- GTCCTTCCAAGCACTAAGTTAAC -3'

Posted On

2019-11-26