Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01012:Itgb7'

53992

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01012

Quality Score

Status

Chromosome

Chromosomal Location

102124430-102140379 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102136020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 5 (S5L)

Ref Sequence

ENSEMBL: ENSMUSP00000123227 (fasta)

Gene Model

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

AlphaFold

P26011

Predicted Effect

probably benign
Transcript: ENSMUST00000001327
AA Change: S5L

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000001327
Gene: ENSMUSG00000001281
AA Change: S5L

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
AA Change: S5L

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123227
Gene: ENSMUSG00000001281
AA Change: S5L

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

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,972,772 (GRCm39)	M249K	possibly damaging	Het
Adamtsl1	T	C	4: 86,260,426 (GRCm39)	F879S	possibly damaging	Het
Afap1l2	T	C	19: 56,918,693 (GRCm39)	E30G	probably damaging	Het
Aqp9	A	G	9: 71,037,831 (GRCm39)		probably benign	Het
Arhgap17	A	T	7: 122,885,791 (GRCm39)		probably benign	Het
Arhgef10	T	C	8: 15,029,977 (GRCm39)	S921P	probably damaging	Het
Atp6v0e2	T	C	6: 48,514,749 (GRCm39)	I22T	probably damaging	Het
AY074887	C	T	9: 54,857,963 (GRCm39)		probably benign	Het
Bcl2l15	T	A	3: 103,740,730 (GRCm39)	D65E	probably damaging	Het
C2cd6	A	T	1: 59,036,507 (GRCm39)		probably benign	Het
Ccdc138	G	A	10: 58,376,737 (GRCm39)		probably null	Het
Ccdc7b	A	G	8: 129,904,838 (GRCm39)	T159A	possibly damaging	Het
Ccser1	A	G	6: 61,615,474 (GRCm39)	T659A	probably benign	Het
Cd300ld2	T	A	11: 114,903,123 (GRCm39)	I241F	probably benign	Het
Cep192	T	A	18: 67,945,477 (GRCm39)	N192K	possibly damaging	Het
Csmd1	T	C	8: 15,967,341 (GRCm39)	K3174R	probably benign	Het
Dpy30	A	T	17: 74,614,749 (GRCm39)	L65I	probably damaging	Het
Eci2	A	T	13: 35,174,312 (GRCm39)	L83*	probably null	Het
F7	A	T	8: 13,083,409 (GRCm39)	E183V	probably damaging	Het
Gabrg1	T	C	5: 70,935,512 (GRCm39)	K214R	probably benign	Het
Galr2	A	T	11: 116,173,996 (GRCm39)	T209S	probably damaging	Het
Gimap9	T	C	6: 48,654,851 (GRCm39)		probably null	Het
Gip	C	A	11: 95,916,285 (GRCm39)	F28L	probably benign	Het
Gpd2	A	G	2: 57,254,542 (GRCm39)	N662S	probably benign	Het
Grik2	T	G	10: 49,149,052 (GRCm39)	D511A	probably damaging	Het
Ift122	T	A	6: 115,876,452 (GRCm39)	Y563N	probably damaging	Het
Ipo8	A	G	6: 148,690,561 (GRCm39)		probably benign	Het
Islr	T	C	9: 58,064,511 (GRCm39)	E332G	probably damaging	Het
Itpr2	G	A	6: 146,246,659 (GRCm39)	R1087W	probably damaging	Het
Katnal2	C	A	18: 77,105,250 (GRCm39)	V66F	probably damaging	Het
Krt81	T	C	15: 101,358,900 (GRCm39)	D284G	probably benign	Het
Krtap4-8	T	A	11: 99,670,831 (GRCm39)		probably benign	Het
Map1s	C	A	8: 71,366,554 (GRCm39)	N486K	probably benign	Het
Med13l	G	A	5: 118,872,093 (GRCm39)	D842N	probably damaging	Het
Mef2c	T	A	13: 83,803,714 (GRCm39)	M306K	probably damaging	Het
Myb	C	T	10: 21,022,159 (GRCm39)	V377I	probably benign	Het
Myocd	C	T	11: 65,075,451 (GRCm39)	G558R	possibly damaging	Het
Nars1	G	T	18: 64,638,039 (GRCm39)	A305E	probably damaging	Het
Neb	A	T	2: 52,086,373 (GRCm39)	N5233K	probably benign	Het
Nipsnap2	T	C	5: 129,823,503 (GRCm39)	I181T	possibly damaging	Het
Or10d4b	A	T	9: 39,534,661 (GRCm39)	M81L	probably benign	Het
Or1s2	T	C	19: 13,758,937 (GRCm39)		probably benign	Het
P3h2	A	C	16: 25,805,998 (GRCm39)	C282G	probably damaging	Het
Pcgf5	T	A	19: 36,420,268 (GRCm39)	C167S	probably damaging	Het
Pck2	T	C	14: 55,781,526 (GRCm39)		probably benign	Het
Peli2	C	T	14: 48,490,187 (GRCm39)	R169*	probably null	Het
Pramel16	T	A	4: 143,676,784 (GRCm39)		probably benign	Het
Psme3ip1	G	A	8: 95,313,990 (GRCm39)	R104W	probably damaging	Het
Ralgapa2	T	A	2: 146,263,659 (GRCm39)	Q686L	possibly damaging	Het
Scap	C	A	9: 110,191,488 (GRCm39)	P50H	probably damaging	Het
Sh3rf2	T	A	18: 42,187,257 (GRCm39)	D125E	possibly damaging	Het
Slc25a38	T	C	9: 119,945,560 (GRCm39)		probably benign	Het
Slc35a5	A	G	16: 44,964,195 (GRCm39)	V346A	probably damaging	Het
Smad4	T	A	18: 73,808,880 (GRCm39)	N129I	probably damaging	Het
Sod2	C	T	17: 13,232,464 (GRCm39)	A163V	possibly damaging	Het
Spred3	T	A	7: 28,860,948 (GRCm39)		probably benign	Het
Stag1	C	A	9: 100,737,912 (GRCm39)	A423E	possibly damaging	Het
Stk17b	A	T	1: 53,800,196 (GRCm39)	S261T	probably benign	Het
Stx3	T	C	19: 11,769,152 (GRCm39)	K58E	probably damaging	Het
Timm10b	C	A	7: 105,290,345 (GRCm39)	Y79*	probably null	Het
Tmem204	T	C	17: 25,289,329 (GRCm39)	D97G	probably damaging	Het
Tnfrsf25	T	C	4: 152,202,885 (GRCm39)	V181A	probably benign	Het
Trim54	T	G	5: 31,294,302 (GRCm39)	S313A	probably benign	Het
Unc79	T	A	12: 103,078,714 (GRCm39)	D1433E	probably damaging	Het
Vmn2r23	A	G	6: 123,706,555 (GRCm39)	T462A	probably benign	Het
Wdr27	T	A	17: 15,146,509 (GRCm39)	H162L	probably damaging	Het

Other mutations in Itgb7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-06-28