Mutagenetix > Incidental Mutation

Incidental Mutation 'R1999:Itgb7'

224792

Institutional Source

Beutler Lab

Gene Symbol

Itgb7

Ensembl Gene

ENSMUSG00000001281

Gene Name

integrin beta 7

Synonyms

MMRRC Submission

040009-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R1999 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102124430-102140379 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102130553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 378 (V378M)

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: V378M

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

SMART Domains

Protein: ENSMUSP00000001327
Gene: ENSMUSG00000001281
AA Change: V378M

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

Meta Mutation Damage Score

0.8856

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

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
Acot1	T	A	12: 84,056,527 (GRCm39)	W82R	probably damaging	Het
Adprm	A	G	11: 66,929,055 (GRCm39)	V312A	probably benign	Het
Ambp	C	T	4: 63,067,666 (GRCm39)	M181I	possibly damaging	Het
Anln	A	G	9: 22,244,348 (GRCm39)	*1122Q	probably null	Het
Apc2	C	T	10: 80,144,994 (GRCm39)	T635I	probably damaging	Het
Arhgap32	A	G	9: 32,027,436 (GRCm39)	E2G	possibly damaging	Het
Bltp1	C	T	3: 36,962,360 (GRCm39)	T487I	probably damaging	Het
Ccdc63	C	G	5: 122,265,628 (GRCm39)	A71P	possibly damaging	Het
Ceacam5	A	T	7: 17,481,172 (GRCm39)	K306N	possibly damaging	Het
Cep295nl	T	C	11: 118,223,915 (GRCm39)	R310G	probably damaging	Het
Ces2h	A	G	8: 105,746,977 (GRCm39)	T538A	probably benign	Het
Dab2	T	C	15: 6,446,398 (GRCm39)	V5A	probably benign	Het
Diaph3	T	A	14: 87,222,302 (GRCm39)	D405V	possibly damaging	Het
Dync1h1	T	C	12: 110,632,857 (GRCm39)		probably null	Het
Epha7	C	T	4: 28,938,686 (GRCm39)	Q514*	probably null	Het
Etfb	C	T	7: 43,103,987 (GRCm39)	L141F	probably benign	Het
Fat1	T	C	8: 45,405,430 (GRCm39)	V727A	probably damaging	Het
Flt4	T	C	11: 49,536,824 (GRCm39)	Y1265H	probably benign	Het
Fndc3c1	C	T	X: 105,464,311 (GRCm39)	E1276K	probably benign	Het
Ghdc	T	C	11: 100,660,018 (GRCm39)	E243G	probably benign	Het
Gpld1	T	C	13: 25,146,630 (GRCm39)	V225A	probably benign	Het
Herc1	A	G	9: 66,393,360 (GRCm39)	T4080A	probably benign	Het
Hoxa3	A	C	6: 52,147,382 (GRCm39)	Y290*	probably null	Het
Htr5a	G	A	5: 28,055,887 (GRCm39)	V293M	possibly damaging	Het
Kcnq5	T	C	1: 21,472,428 (GRCm39)	S811G	probably null	Het
Kcnt1	T	A	2: 25,782,372 (GRCm39)	H156Q	probably benign	Het
Kif1a	T	C	1: 92,988,517 (GRCm39)	N507S	probably damaging	Het
Krt84	T	C	15: 101,438,019 (GRCm39)	E312G	possibly damaging	Het
Manea	A	G	4: 26,327,871 (GRCm39)	L390P	probably damaging	Het
Mboat2	A	G	12: 24,996,672 (GRCm39)	D225G	possibly damaging	Het
Medag	T	A	5: 149,350,717 (GRCm39)	F64Y	probably damaging	Het
Mtmr6	T	A	14: 60,530,856 (GRCm39)	S331R	probably damaging	Het
Myh1	A	C	11: 67,113,234 (GRCm39)	D1873A	probably benign	Het
Nek9	A	G	12: 85,376,677 (GRCm39)	W235R	probably damaging	Het
Nomo1	T	C	7: 45,706,151 (GRCm39)	S502P	possibly damaging	Het
Or10g6	A	G	9: 39,933,985 (GRCm39)	I99V	probably benign	Het
Or3a1b	A	G	11: 74,012,406 (GRCm39)	Y97C	probably benign	Het
Or8k30	T	A	2: 86,339,089 (GRCm39)	Y95*	probably null	Het
Otof	T	A	5: 30,546,116 (GRCm39)	E427D	probably benign	Het
Pclo	T	C	5: 14,727,094 (GRCm39)		probably benign	Het
Pkhd1l1	T	G	15: 44,363,378 (GRCm39)		probably null	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rad21l	T	C	2: 151,496,621 (GRCm39)		probably null	Het
Rbbp6	T	C	7: 122,589,575 (GRCm39)	V459A	probably damaging	Het
Rsbn1l	G	A	5: 21,107,368 (GRCm39)	H549Y	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Senp1	C	T	15: 97,956,196 (GRCm39)	V408I	possibly damaging	Het
Slc44a5	T	C	3: 153,964,130 (GRCm39)	F499L	possibly damaging	Het
Slitrk3	C	T	3: 72,957,297 (GRCm39)	V492I	probably benign	Het
Spef2	T	A	15: 9,668,989 (GRCm39)		probably null	Het
Ssc5d	A	T	7: 4,945,713 (GRCm39)	D915V	possibly damaging	Het
Stard9	A	G	2: 120,523,349 (GRCm39)	D668G	probably damaging	Het
Sycp2l	A	G	13: 41,271,780 (GRCm39)	D73G	probably benign	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tmem8b	G	A	4: 43,681,300 (GRCm39)	C439Y	probably damaging	Het
Vmn1r195	C	G	13: 22,462,934 (GRCm39)	L135V	possibly damaging	Het
Vmn1r74	G	T	7: 11,581,302 (GRCm39)	V201F	probably damaging	Het
Vmn2r-ps158	A	T	7: 42,696,883 (GRCm39)	I647F	probably damaging	Het
Zfp956	G	A	6: 47,940,805 (GRCm39)	R388H	probably 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
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
R3747:Itgb7	UTSW	15	102,131,212 (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'- ATAGCTAAGGGCAGCCATGTG -3'
(R):5'- TCAGGTGAGAGTTCTCTGAGGAAAG -3'

Sequencing Primer
(F):5'- CAGCCATGTGCAAACTGTAG -3'
(R):5'- TGAGAGTTCTCTGAGGAAAGACTTCC -3'

Posted On

2014-08-25