Mutagenetix > Incidental Mutation

Incidental Mutation 'R5134:Itgb7'

396079

Institutional Source

Beutler Lab

Gene Symbol

Itgb7

Ensembl Gene

ENSMUSG00000001281

Gene Name

integrin beta 7

Synonyms

MMRRC Submission

042722-MU

Accession Numbers

Essential gene?

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

Stock #

R5134 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102124430-102140379 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102125842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 596 (C596R)

Ref Sequence

ENSEMBL: ENSMUSP00000001327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001327] [ENSMUST00000118729] [ENSMUST00000119168] [ENSMUST00000119800] [ENSMUST00000141465] [ENSMUST00000230867]

AlphaFold

P26011

Predicted Effect

probably damaging
Transcript: ENSMUST00000001327
AA Change: C596R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001327
Gene: ENSMUSG00000001281
AA Change: C596R

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: ENSMUST00000118729

SMART Domains

Protein: ENSMUSP00000112985
Gene: ENSMUSG00000046897

Domain	Start	End	E-Value	Type
low complexity region	53	62	N/A	INTRINSIC
ZnF_C2H2	76	98	3.07e-1	SMART
ZnF_C2H2	104	126	1.69e-3	SMART
ZnF_C2H2	132	152	4.99e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119168

Predicted Effect

probably benign
Transcript: ENSMUST00000119800

SMART Domains

Protein: ENSMUSP00000113770
Gene: ENSMUSG00000046897

Domain	Start	End	E-Value	Type
low complexity region	65	74	N/A	INTRINSIC
ZnF_C2H2	88	110	3.07e-1	SMART
ZnF_C2H2	116	138	1.69e-3	SMART
ZnF_C2H2	144	164	4.99e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119830

SMART Domains

Protein: ENSMUSP00000113281
Gene: ENSMUSG00000046897

Domain	Start	End	E-Value	Type
ZnF_C2H2	25	47	3.07e-1	SMART
ZnF_C2H2	53	75	1.69e-3	SMART
ZnF_C2H2	81	101	4.99e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141465

Predicted Effect

probably benign
Transcript: ENSMUST00000229440

Predicted Effect

probably benign
Transcript: ENSMUST00000230867

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230550

Meta Mutation Damage Score

0.9702

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

96% (100/104)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	A	10: 77,161,679 (GRCm39)		probably benign	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Ank2	A	T	3: 126,757,094 (GRCm39)	N1054K	possibly damaging	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Aph1a	G	T	3: 95,802,843 (GRCm39)	G148W	probably damaging	Het
Arsj	A	G	3: 126,231,803 (GRCm39)	D183G	probably benign	Het
Atg2b	A	G	12: 105,641,209 (GRCm39)	S76P	probably damaging	Het
Atxn7l1	C	A	12: 33,422,875 (GRCm39)	N815K	probably damaging	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cir1	G	A	2: 73,114,847 (GRCm39)	R404*	probably null	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,623 (GRCm39)	E194G	probably benign	Het
Cstf2t	T	A	19: 31,061,494 (GRCm39)	D343E	probably damaging	Het
Ddx23	A	T	15: 98,548,651 (GRCm39)	D352E	possibly damaging	Het
Dhx34	G	T	7: 15,952,175 (GRCm39)	A150D	possibly damaging	Het
Dnal4	A	T	15: 79,647,766 (GRCm39)	V32E	possibly damaging	Het
Dvl3	G	T	16: 20,343,357 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Enpp2	C	T	15: 54,762,726 (GRCm39)	R174H	probably damaging	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fer1l6	A	T	15: 58,512,003 (GRCm39)	D1490V	probably damaging	Het
Fsd1l	A	G	4: 53,647,766 (GRCm39)	K70E	probably benign	Het
Galnt12	G	A	4: 47,113,818 (GRCm39)	A79T	probably damaging	Het
Galnt17	A	T	5: 130,992,873 (GRCm39)	M347K	probably damaging	Het
Glyatl3	A	G	17: 41,215,921 (GRCm39)	V195A	probably benign	Het
Gm10770	A	T	2: 150,021,480 (GRCm39)		probably null	Het
Gm5578	A	T	6: 112,583,046 (GRCm39)		noncoding transcript	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsk3b	G	A	16: 38,060,882 (GRCm39)	R418H	probably damaging	Het
Hspa12b	A	G	2: 130,981,428 (GRCm39)	E221G	possibly damaging	Het
Ighv1-50	T	G	12: 115,083,653 (GRCm39)	Q22H	probably benign	Het
Ipcef1	A	G	10: 6,869,950 (GRCm39)	I150T	probably benign	Het
Ipp	T	A	4: 116,372,654 (GRCm39)	F228I	possibly damaging	Het
Kif27	T	C	13: 58,438,904 (GRCm39)	D1219G	possibly damaging	Het
Lats1	T	A	10: 7,567,575 (GRCm39)	D115E	probably benign	Het
Lpcat3	A	G	6: 124,679,493 (GRCm39)	N331S	probably benign	Het
Lrpprc	A	T	17: 85,058,684 (GRCm39)	N725K	probably benign	Het
Lss	T	G	10: 76,382,070 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,747,515 (GRCm39)	Y450C	possibly damaging	Het
Mmp21	A	T	7: 133,280,742 (GRCm39)	V76E	probably benign	Het
Mtmr11	A	T	3: 96,077,223 (GRCm39)	Y527F	probably damaging	Het
Nat10	A	T	2: 103,573,638 (GRCm39)	F327I	probably benign	Het
Nfkbiz	A	T	16: 55,638,863 (GRCm39)	M199K	probably damaging	Het
Nuak1	A	G	10: 84,210,214 (GRCm39)	Y625H	probably benign	Het
Odf1	A	G	15: 38,226,393 (GRCm39)	T98A	possibly damaging	Het
Oprl1	T	A	2: 181,360,403 (GRCm39)	I153N	probably damaging	Het
Or10g3b	T	C	14: 52,587,248 (GRCm39)	N85S	probably benign	Het
Or1j4	A	T	2: 36,740,488 (GRCm39)	L143F	probably benign	Het
Or4x13	T	A	2: 90,231,107 (GRCm39)	M34K	probably benign	Het
Osbpl8	T	A	10: 111,124,554 (GRCm39)	D705E	probably benign	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Paics	T	C	5: 77,104,669 (GRCm39)		probably benign	Het
Pax5	A	G	4: 44,710,407 (GRCm39)	M1T	probably null	Het
Pck1	A	T	2: 172,995,282 (GRCm39)	N34I	probably benign	Het
Pde8b	T	C	13: 95,223,250 (GRCm39)	I335V	probably benign	Het
Piezo2	A	G	18: 63,207,691 (GRCm39)	V1440A	probably damaging	Het
Prr23a4	T	C	9: 98,785,793 (GRCm39)	S153P	probably benign	Het
Ptpre	T	A	7: 135,253,821 (GRCm39)	F83Y	probably damaging	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Rassf6	T	A	5: 90,752,225 (GRCm39)		probably null	Het
Rilp	A	T	11: 75,403,534 (GRCm39)	L325F	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Rprd2	G	C	3: 95,672,632 (GRCm39)	R924G	probably benign	Het
Rps6kc1	T	A	1: 190,505,845 (GRCm39)	D1039V	probably damaging	Het
Rufy3	G	A	5: 88,793,426 (GRCm39)	V579I	probably benign	Het
Serpinc1	A	G	1: 160,825,140 (GRCm39)		probably null	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
St14	T	G	9: 31,006,879 (GRCm39)	D649A	probably benign	Het
Stab2	A	G	10: 86,707,674 (GRCm39)		probably null	Het
Sun3	T	C	11: 8,988,287 (GRCm39)	T12A	probably benign	Het
Tdrd6	A	G	17: 43,937,101 (GRCm39)	Y1316H	probably damaging	Het
Thbs3	CAGAAG	CAG	3: 89,130,409 (GRCm39)		probably benign	Het
Tmem161b	C	A	13: 84,442,887 (GRCm39)	T269K	possibly damaging	Het
Trav14-3	T	A	14: 54,000,701 (GRCm39)	S17T	unknown	Het
Trmu	T	A	15: 85,780,556 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,537,586 (GRCm39)	T26454S	possibly damaging	Het
Ubr3	T	C	2: 69,850,790 (GRCm39)		probably benign	Het
Unc5b	A	T	10: 60,610,879 (GRCm39)	V376E	probably benign	Het
Usp3	T	C	9: 66,449,814 (GRCm39)	S166G	possibly damaging	Het
Vldlr	C	A	19: 27,216,212 (GRCm39)	C344*	probably null	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Wdfy3	A	C	5: 102,091,969 (GRCm39)	Y457D	probably damaging	Het
Zbtb2	T	C	10: 4,319,267 (GRCm39)	Y253C	possibly damaging	Het
Zfp687	A	C	3: 94,917,697 (GRCm39)	F692V	probably damaging	Het
Zfp758	A	G	17: 22,594,386 (GRCm39)	K291E	probably damaging	Het
Zfp799	A	T	17: 33,039,415 (GRCm39)	C284S	probably damaging	Het
Zp1	C	A	19: 10,897,926 (GRCm39)	C5F	probably benign	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
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
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'- AACAGGCAGGTAGGAATTCCC -3'
(R):5'- CTATAGTATTGAGCCAGAGGATGTG -3'

Sequencing Primer
(F):5'- GGTAGGAATTCCCAGCAAGCC -3'
(R):5'- TGCCAACTGTGTGTGAGA -3'

Posted On

2016-06-21