Mutagenetix > Incidental Mutation

Incidental Mutation 'R7394:Itgb7'

573691

Institutional Source

Beutler Lab

Gene Symbol

Itgb7

Ensembl Gene

ENSMUSG00000001281

Gene Name

integrin beta 7

Synonyms

MMRRC Submission

045476-MU

Accession Numbers

Essential gene?

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

Stock #

R7394 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102124430-102140379 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102127689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 410 (S410P)

Ref Sequence

ENSEMBL: ENSMUSP00000001327 (fasta)

Gene Model

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

AlphaFold

P26011

Predicted Effect

probably damaging
Transcript: ENSMUST00000001327
AA Change: S410P

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

SMART Domains

Protein: ENSMUSP00000001327
Gene: ENSMUSG00000001281
AA Change: S410P

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

probably benign
Transcript: ENSMUST00000229440

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (66/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,445,038 (GRCm39)	I208V	probably benign	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Aldh1l2	T	A	10: 83,338,321 (GRCm39)	I646F	probably damaging	Het
Alms1	C	T	6: 85,599,205 (GRCm39)	P1344S	possibly damaging	Het
Ank2	T	A	3: 126,730,302 (GRCm39)	I711L	possibly damaging	Het
Ankrd6	T	C	4: 32,821,298 (GRCm39)	N251D	probably damaging	Het
Ap3m1	T	C	14: 21,088,147 (GRCm39)	T304A	probably benign	Het
Arhgef39	T	C	4: 43,499,532 (GRCm39)	T26A	possibly damaging	Het
Carnmt1	G	T	19: 18,648,201 (GRCm39)		probably benign	Het
Ccr4	C	T	9: 114,320,994 (GRCm39)	R357H	probably benign	Het
Cd4	T	A	6: 124,850,004 (GRCm39)	M104L	probably benign	Het
Cd74	A	T	18: 60,936,965 (GRCm39)		probably benign	Het
Cdcp1	T	C	9: 123,002,878 (GRCm39)	Y731C	probably damaging	Het
Cdyl2	A	G	8: 117,350,790 (GRCm39)	S114P	not run	Het
Cenpv	T	C	11: 62,427,114 (GRCm39)	D148G	probably damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cfap57	T	A	4: 118,450,334 (GRCm39)	Y596F	probably benign	Het
Clec4a2	C	A	6: 123,116,079 (GRCm39)	A122E	unknown	Het
Col4a2	A	G	8: 11,496,184 (GRCm39)	T1602A	probably benign	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyp2j11	A	T	4: 96,204,677 (GRCm39)	Y290N	probably benign	Het
Dhx38	A	T	8: 110,283,155 (GRCm39)	V554E	probably damaging	Het
Ebf2	T	C	14: 67,474,975 (GRCm39)	V70A	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fam217a	A	T	13: 35,094,262 (GRCm39)	I499K	possibly damaging	Het
Fras1	C	A	5: 96,860,309 (GRCm39)	Y2118*	probably null	Het
Gm3248	A	T	14: 5,945,781 (GRCm38)		probably null	Het
Gm5460	T	G	14: 33,765,879 (GRCm39)	D165E	possibly damaging	Het
Grk4	A	T	5: 34,908,962 (GRCm39)	N490Y	probably benign	Het
Iglc2	T	A	16: 19,013,886 (GRCm39)	K59*	probably null	Het
Iqsec3	T	A	6: 121,363,569 (GRCm39)	H895L	possibly damaging	Het
Kmt2d	C	A	15: 98,754,265 (GRCm39)	V1613F	unknown	Het
Lama1	T	C	17: 68,024,256 (GRCm39)	L118P		Het
Lrrc25	A	T	8: 71,070,830 (GRCm39)	S204C	possibly damaging	Het
Malrd1	A	G	2: 15,700,010 (GRCm39)	D619G	unknown	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Mup17	G	A	4: 61,512,635 (GRCm39)	S86F	probably benign	Het
Nbeal2	C	T	9: 110,459,257 (GRCm39)		probably null	Het
Nfkb1	A	C	3: 135,319,458 (GRCm39)	V291G	possibly damaging	Het
Nomo1	G	T	7: 45,715,903 (GRCm39)	V757F	probably benign	Het
Nutm2	T	A	13: 50,624,043 (GRCm39)	S247T	probably damaging	Het
Or2at1	C	A	7: 99,416,553 (GRCm39)	H61Q	probably damaging	Het
Or4c120	C	T	2: 89,000,705 (GRCm39)	V284I	probably benign	Het
Or4f4-ps1	G	T	2: 111,330,241 (GRCm39)	A215S	probably damaging	Het
Or7g12	T	A	9: 18,900,006 (GRCm39)	C241S	probably damaging	Het
Or9k2b	T	A	10: 130,016,123 (GRCm39)	I209F	probably damaging	Het
Pcdhb14	A	G	18: 37,581,961 (GRCm39)	I356V	probably benign	Het
Pnkp	T	A	7: 44,508,102 (GRCm39)	S142T	probably damaging	Het
Ppia	T	C	11: 6,369,218 (GRCm39)	S99P	possibly damaging	Het
Prss47	C	T	13: 65,192,807 (GRCm39)	V325I	probably benign	Het
Ptgr3	C	T	18: 84,106,315 (GRCm39)	A9V	probably benign	Het
Ptk7	T	C	17: 46,902,683 (GRCm39)	D34G	probably damaging	Het
Pwp2	C	T	10: 78,018,314 (GRCm39)	G126R	probably damaging	Het
Rasa3	G	T	8: 13,645,353 (GRCm39)	D195E	probably benign	Het
Rnf150	T	A	8: 83,717,100 (GRCm39)	Y202*	probably null	Het
Sh2d1b2	T	C	1: 170,075,716 (GRCm39)	V50A	probably damaging	Het
Slc30a4	C	T	2: 122,527,224 (GRCm39)	V390I	possibly damaging	Het
Slc30a9	G	T	5: 67,510,109 (GRCm39)		probably null	Het
Slc8a3	T	A	12: 81,260,832 (GRCm39)		probably null	Het
Smpd3	G	A	8: 106,991,642 (GRCm39)	R304W	probably damaging	Het
Snta1	A	G	2: 154,218,780 (GRCm39)	S490P	probably damaging	Het
Srcap	T	G	7: 127,134,000 (GRCm39)	M887R	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Sult2a3	T	C	7: 13,845,449 (GRCm39)	T137A	probably benign	Het
Tspoap1	C	T	11: 87,656,945 (GRCm39)	Q367*	probably null	Het
Uroc1	C	T	6: 90,322,315 (GRCm39)	R280C	probably damaging	Het
Ush2a	T	C	1: 188,643,613 (GRCm39)	I4325T	possibly damaging	Het
Vmn1r32	A	G	6: 66,530,173 (GRCm39)	I201T	probably benign	Het
Zbtb47	T	A	9: 121,596,411 (GRCm39)	M626K	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
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
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'- GCTGCCCGCATGGTTTCT -3'
(R):5'- TATCCCAGGGTGGTTCTTCTTT -3'

Sequencing Primer
(F):5'- CCGCATGGTTTCTCCTCC -3'
(R):5'- TTCAGAAATGAATTCTAAGTGGGCAG -3'

Posted On

2019-09-13