Mutagenetix > Incidental Mutation

Incidental Mutation 'R3747:Itgb7'

309897

Institutional Source

Beutler Lab

Gene Symbol

Itgb7

Ensembl Gene

ENSMUSG00000001281

Gene Name

integrin beta 7

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R3747 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102124430-102140379 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102131212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 280 (V280D)

Ref Sequence

ENSEMBL: ENSMUSP00000001327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001327] [ENSMUST00000127014] [ENSMUST00000230652]

AlphaFold

P26011

Predicted Effect

probably damaging
Transcript: ENSMUST00000001327
AA Change: V280D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001327
Gene: ENSMUSG00000001281
AA Change: V280D

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PSI	44	92	6.35e-6	SMART
INB	50	476	2.82e-273	SMART
VWA	151	383	7.52e-2	SMART
low complexity region	537	557	N/A	INTRINSIC
Pfam:EGF_2	605	635	2.6e-7	PFAM
Integrin_B_tail	645	721	4.22e-18	SMART
low complexity region	732	744	N/A	INTRINSIC
Integrin_b_cyt	746	792	7.82e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127014

SMART Domains

Protein: ENSMUSP00000123227
Gene: ENSMUSG00000001281

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
PSI	48	85	4.67e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000230652

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms dimers with an alpha4 chain or an alphaE chain and plays a role in leukocyte adhesion. Dimerization with alpha4 forms a homing receptor for migration of lymphocytes to the intestinal mucosa and Peyer's patches. Dimerization with alphaE permits binding to the ligand epithelial cadherin, a calcium-dependent adhesion molecule. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygous null mice display hypoplasia of gut-associated lymph tissue due to defects in lymphocyte migration [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 77,036,501 (GRCm39)	E347*	probably null	Het
Abhd18	A	G	3: 40,888,008 (GRCm39)	N284S	probably benign	Het
Adam12	T	C	7: 133,774,594 (GRCm39)	D5G	probably damaging	Het
Adam26b	A	C	8: 43,974,234 (GRCm39)	V256G	probably benign	Het
Aga	T	A	8: 53,970,856 (GRCm39)	I192N	probably benign	Het
Ago1	A	G	4: 126,354,837 (GRCm39)	I125T	probably benign	Het
Alk	A	G	17: 72,218,560 (GRCm39)	S762P	probably damaging	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Cby3	T	C	11: 50,250,501 (GRCm39)	*236R	probably null	Het
Cfhr1	C	A	1: 139,485,372 (GRCm39)		probably null	Het
Clcn1	T	A	6: 42,276,849 (GRCm39)	Y393N	probably damaging	Het
Cx3cr1	T	C	9: 119,881,132 (GRCm39)	H90R	probably damaging	Het
Cyp3a16	T	A	5: 145,378,881 (GRCm39)	K380M	probably damaging	Het
Cyp4v3	G	A	8: 45,768,745 (GRCm39)	R272*	probably null	Het
Dazap1	C	T	10: 80,123,498 (GRCm39)	R391C	possibly damaging	Het
Dgkh	T	A	14: 78,821,885 (GRCm39)	E876V	probably damaging	Het
Dnah8	A	T	17: 31,003,148 (GRCm39)	K3616*	probably null	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Fam221a	A	G	6: 49,349,630 (GRCm39)	D2G	probably damaging	Het
Fam43a	C	T	16: 30,420,664 (GRCm39)	T416I	probably benign	Het
Fam90a1a	C	A	8: 22,453,221 (GRCm39)	S192*	probably null	Het
Foxd1	G	C	13: 98,492,424 (GRCm39)	A433P	unknown	Het
Garin4	T	G	1: 190,896,207 (GRCm39)	Q145H	probably damaging	Het
Gm10152	G	A	7: 144,316,937 (GRCm39)		probably null	Het
Hipk3	T	A	2: 104,271,628 (GRCm39)	R435*	probably null	Het
Hnrnpab	T	A	11: 51,493,473 (GRCm39)	Y245F	probably benign	Het
Islr2	A	T	9: 58,106,925 (GRCm39)	S112T	probably benign	Het
Kndc1	G	A	7: 139,507,817 (GRCm39)		probably null	Het
Lrba	T	G	3: 86,283,260 (GRCm39)	L1858R	probably damaging	Het
Mroh2b	G	A	15: 4,981,728 (GRCm39)	W1513*	probably null	Het
Nbeal1	A	G	1: 60,234,182 (GRCm39)	D51G	probably damaging	Het
Ncoa6	G	A	2: 155,253,561 (GRCm39)	P939L	probably benign	Het
Ndst3	A	G	3: 123,465,201 (GRCm39)	I257T	probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,069,795 (GRCm39)		probably benign	Het
Nuf2	T	A	1: 169,352,945 (GRCm39)	N20I	probably damaging	Het
Osbpl7	T	C	11: 96,946,879 (GRCm39)	V223A	probably damaging	Het
Pcm1	T	C	8: 41,785,041 (GRCm39)	I2064T	probably benign	Het
Pkd1	A	G	17: 24,810,435 (GRCm39)	R90G	possibly damaging	Het
Pkdrej	T	A	15: 85,705,278 (GRCm39)	K219N	probably damaging	Het
Ppil4	A	T	10: 7,690,457 (GRCm39)	Q370L	probably benign	Het
Pramel18	T	A	4: 101,767,073 (GRCm39)	D107E	possibly damaging	Het
Primpol	A	T	8: 47,052,848 (GRCm39)	D154E	probably benign	Het
Rb1cc1	T	G	1: 6,318,966 (GRCm39)	V778G	possibly damaging	Het
Sgms1	A	T	19: 32,136,994 (GRCm39)	S191T	possibly damaging	Het
Sned1	T	A	1: 93,189,473 (GRCm39)	F303Y	probably damaging	Het
Sp9	T	A	2: 73,104,652 (GRCm39)	M402K	probably damaging	Het
Spon1	T	C	7: 113,365,621 (GRCm39)	L19P	probably damaging	Het
Spon1	T	A	7: 113,616,024 (GRCm39)	V297E	possibly damaging	Het
Tlr5	T	C	1: 182,802,004 (GRCm39)	I436T	probably benign	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Tpcn2	T	C	7: 144,809,260 (GRCm39)	H682R	probably damaging	Het
Ugt1a6a	T	C	1: 88,066,871 (GRCm39)	Y226H	probably damaging	Het
Upf1	G	T	8: 70,786,000 (GRCm39)	N975K	possibly damaging	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Vmn1r39	T	C	6: 66,781,854 (GRCm39)	N155D	probably benign	Het
Vwa5b2	A	G	16: 20,417,076 (GRCm39)		probably benign	Het
Yipf4	G	A	17: 74,803,667 (GRCm39)		probably null	Het
Zdhhc17	T	C	10: 110,780,281 (GRCm39)	I624M	probably benign	Het
Zfhx4	G	A	3: 5,308,225 (GRCm39)	E484K	possibly damaging	Het
Zswim4	G	A	8: 84,938,676 (GRCm39)	P1069S	possibly damaging	Het

Other mutations in Itgb7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Itgb7	APN	15	102,136,020 (GRCm39)	missense	probably benign	0.22
IGL01574:Itgb7	APN	15	102,135,975 (GRCm39)	missense	possibly damaging	0.83
IGL01814:Itgb7	APN	15	102,131,852 (GRCm39)	missense	possibly damaging	0.78
IGL01875:Itgb7	APN	15	102,126,430 (GRCm39)	missense	probably damaging	1.00
IGL01996:Itgb7	APN	15	102,126,412 (GRCm39)	missense	probably damaging	1.00
IGL02320:Itgb7	APN	15	102,132,772 (GRCm39)	missense	probably benign	0.04
IGL02541:Itgb7	APN	15	102,131,892 (GRCm39)	missense	probably benign	0.05
IGL02547:Itgb7	APN	15	102,126,945 (GRCm39)	missense	probably damaging	1.00
R0083:Itgb7	UTSW	15	102,131,917 (GRCm39)	missense	probably damaging	0.98
R0108:Itgb7	UTSW	15	102,131,917 (GRCm39)	missense	probably damaging	0.98
R0195:Itgb7	UTSW	15	102,130,618 (GRCm39)	unclassified	probably benign
R1033:Itgb7	UTSW	15	102,131,989 (GRCm39)	missense	probably damaging	1.00
R1627:Itgb7	UTSW	15	102,131,911 (GRCm39)	missense	probably damaging	0.97
R1999:Itgb7	UTSW	15	102,130,553 (GRCm39)	missense	probably damaging	1.00
R2150:Itgb7	UTSW	15	102,130,553 (GRCm39)	missense	probably damaging	1.00
R2331:Itgb7	UTSW	15	102,131,983 (GRCm39)	missense	probably damaging	1.00
R4758:Itgb7	UTSW	15	102,124,642 (GRCm39)	missense	probably benign	0.07
R4779:Itgb7	UTSW	15	102,132,848 (GRCm39)	missense	possibly damaging	0.54
R5134:Itgb7	UTSW	15	102,125,842 (GRCm39)	missense	probably damaging	1.00
R5158:Itgb7	UTSW	15	102,125,464 (GRCm39)	missense	probably benign	0.05
R5323:Itgb7	UTSW	15	102,140,059 (GRCm39)	intron	probably benign
R5416:Itgb7	UTSW	15	102,125,744 (GRCm39)	missense	probably benign	0.00
R5652:Itgb7	UTSW	15	102,124,638 (GRCm39)	missense	possibly damaging	0.48
R6089:Itgb7	UTSW	15	102,125,721 (GRCm39)	missense	probably benign	0.00
R6144:Itgb7	UTSW	15	102,131,917 (GRCm39)	missense	probably benign	0.45
R6384:Itgb7	UTSW	15	102,132,886 (GRCm39)	missense	probably benign	0.04
R6475:Itgb7	UTSW	15	102,124,701 (GRCm39)	missense	probably benign	0.12
R6754:Itgb7	UTSW	15	102,124,595 (GRCm39)	makesense	probably null
R6857:Itgb7	UTSW	15	102,131,900 (GRCm39)	missense	probably damaging	1.00
R7394:Itgb7	UTSW	15	102,127,689 (GRCm39)	missense	probably damaging	1.00
R7747:Itgb7	UTSW	15	102,125,039 (GRCm39)	missense	possibly damaging	0.88
R8014:Itgb7	UTSW	15	102,131,087 (GRCm39)	missense	probably damaging	1.00
R8446:Itgb7	UTSW	15	102,127,043 (GRCm39)	missense	probably damaging	1.00
R8523:Itgb7	UTSW	15	102,124,957 (GRCm39)	missense	probably damaging	0.99
R8962:Itgb7	UTSW	15	102,127,037 (GRCm39)	missense	probably damaging	1.00
R9051:Itgb7	UTSW	15	102,126,359 (GRCm39)	missense	possibly damaging	0.88
R9074:Itgb7	UTSW	15	102,132,797 (GRCm39)	missense
R9105:Itgb7	UTSW	15	102,135,904 (GRCm39)	missense	probably damaging	1.00
R9369:Itgb7	UTSW	15	102,131,821 (GRCm39)	missense	probably damaging	1.00
R9378:Itgb7	UTSW	15	102,135,831 (GRCm39)	critical splice donor site	probably null
R9467:Itgb7	UTSW	15	102,131,989 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTGAATGAGGCTCAGATGG -3'
(R):5'- GTTCAGAGACCTTGGAGCAGAG -3'

Sequencing Primer
(F):5'- TGAGGCTCAGATGGGGGAG -3'
(R):5'- ACCACCTGTAATGGGTTCTGAAGC -3'

Posted On

2015-04-17