Mutagenetix > Incidental Mutation

Incidental Mutation 'R7747:Itgb7'

596939

Institutional Source

Beutler Lab

Gene Symbol

Itgb7

Ensembl Gene

ENSMUSG00000001281

Gene Name

integrin beta 7

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R7747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102215995-102231944 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102216604 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 727 (I727M)

Ref Sequence

ENSEMBL: ENSMUSP00000001327 (fasta)

Gene Model

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

AlphaFold

P26011

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001327
AA Change: I727M

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001327
Gene: ENSMUSG00000001281
AA Change: I727M

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: ENSMUST00000141465

Predicted Effect

probably benign
Transcript: ENSMUST00000229440

Predicted Effect

probably benign
Transcript: ENSMUST00000230867

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (89/89)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109A12Rik	G	A	5: 93,206,557		probably null	Het
2410004P03Rik	C	T	12: 17,007,148	S116N	probably damaging	Het
3425401B19Rik	T	C	14: 32,663,069	D313G	possibly damaging	Het
AA986860	A	G	1: 130,743,547	E502G	possibly damaging	Het
Adamts20	T	A	15: 94,291,587	K1462*	probably null	Het
Adgrg6	A	C	10: 14,450,577		probably null	Het
Ankrd13d	G	A	19: 4,280,985	H165Y	probably damaging	Het
Arap3	T	C	18: 37,988,888		probably null	Het
Arhgap33	A	G	7: 30,524,135	V823A	probably damaging	Het
Aup1	C	A	6: 83,054,795	P34T	unknown	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bicc1	T	C	10: 70,946,993	T515A	probably benign	Het
Ccdc73	A	C	2: 104,929,556	K106Q	probably damaging	Het
Celsr3	G	A	9: 108,829,978	R1220Q	possibly damaging	Het
Cep290	C	T	10: 100,558,176	Q2082*	probably null	Het
Cercam	A	G	2: 29,871,286	D104G	probably benign	Het
Champ1	A	G	8: 13,879,990	H716R	probably damaging	Het
Cntrl	A	T	2: 35,116,798	I159F	probably damaging	Het
Col11a1	T	C	3: 114,102,572	I507T	unknown	Het
Cped1	T	C	6: 22,143,974	I573T	probably damaging	Het
Crot	C	T	5: 8,968,869		probably null	Het
D1Pas1	T	A	1: 186,968,677	S268T	probably benign	Het
Erich6	A	G	3: 58,618,928	V551A	probably damaging	Het
Fbxo32	T	C	15: 58,191,361	N192S	probably damaging	Het
Fgd6	T	C	10: 94,044,916	V544A	probably damaging	Het
Fnbp1	C	T	2: 31,036,147	G552E	probably damaging	Het
Gjb5	A	T	4: 127,356,162	V63D	probably damaging	Het
Gm10053	T	C	19: 24,876,039	I96T	probably benign	Het
Gm11639	T	G	11: 104,842,603	I2011S	probably damaging	Het
Gm38119	T	C	3: 92,738,021	S89G	unknown	Het
Gm884	A	T	11: 103,614,255	S2296T	probably damaging	Het
Gpn2	A	G	4: 133,586,045	I183V	probably benign	Het
Greb1	C	T	12: 16,674,795	V1793M	probably benign	Het
H2-Q7	A	G	17: 35,440,061	I163V	probably benign	Het
Hrh2	T	C	13: 54,214,530	V175A	possibly damaging	Het
Hsd3b3	C	T	3: 98,743,898	V79I	possibly damaging	Het
Kcnj16	T	A	11: 111,024,743	F77Y	probably damaging	Het
Lilra6	T	A	7: 3,912,996	Q288L	probably benign	Het
Malrd1	G	A	2: 16,074,835	V1788M	unknown	Het
Mau2	T	C	8: 70,026,723	I349V	possibly damaging	Het
Mbnl3	C	T	X: 51,130,334	R181H	probably damaging	Het
Mfsd6	T	C	1: 52,676,547	T524A	probably benign	Het
Mical2	G	T	7: 112,333,839	R740L	probably benign	Het
Mknk1	G	A	4: 115,878,072	C379Y	possibly damaging	Het
Mta3	A	T	17: 83,791,736	K410*	probably null	Het
Myb	A	C	10: 21,156,425	I19S	possibly damaging	Het
Ncor2	A	G	5: 125,027,038	F996S		Het
Nlrp1a	T	C	11: 71,123,408	M339V	possibly damaging	Het
Olfr136	C	T	17: 38,335,394	P79L	probably benign	Het
Olfr689	A	G	7: 105,314,447	K148E	probably damaging	Het
Pcdhga5	C	T	18: 37,696,782	T761I	possibly damaging	Het
Pcmtd2	T	C	2: 181,851,659	L219P	possibly damaging	Het
Pfdn1	C	T	18: 36,432,305		probably null	Het
Pkn3	G	A	2: 30,090,584	C829Y	probably benign	Het
Pld1	T	C	3: 28,087,189	S634P	possibly damaging	Het
Pofut2	T	G	10: 77,262,470	V139G	possibly damaging	Het
Prdm12	C	A	2: 31,653,871		probably null	Het
Prkar2b	C	A	12: 32,060,938	A49S	probably benign	Het
Prmt1	A	T	7: 44,984,136		probably null	Het
Rab39	A	T	9: 53,686,400	D188E	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Scgb1b19	A	G	7: 33,287,498	I25V	probably benign	Het
Scn9a	A	T	2: 66,484,298	I1692N	probably damaging	Het
Sdk1	G	T	5: 142,084,491	G1137V	probably damaging	Het
Sec16b	A	G	1: 157,565,472	T950A	possibly damaging	Het
Senp2	G	T	16: 22,038,622	R398L	probably damaging	Het
Sfswap	G	T	5: 129,550,593		probably null	Het
Sh3rf1	A	G	8: 61,353,753	T362A	probably damaging	Het
Slc17a1	A	T	13: 23,888,052	I418F	probably benign	Het
Slc1a4	A	T	11: 20,308,587	M284K	probably damaging	Het
Slc5a2	A	T	7: 128,266,395		probably null	Het
Slco5a1	A	G	1: 12,990,122	V125A	probably benign	Het
Smu1	A	G	4: 40,748,600	V230A	probably benign	Het
Sp4	A	G	12: 118,254,404		probably null	Het
Stbd1	A	G	5: 92,605,557	K302R	probably damaging	Het
Stx2	A	T	5: 128,986,417	V268D	probably benign	Het
Tbc1d9b	G	A	11: 50,161,620	A885T	probably benign	Het
Tbce	T	A	13: 14,006,478	D267V	possibly damaging	Het
Tert	T	C	13: 73,627,606	Y159H	probably damaging	Het
Thbs2	T	A	17: 14,670,039	I1102F	possibly damaging	Het
Tmprss7	G	C	16: 45,683,510	A183G	probably benign	Het
Top3b	C	A	16: 16,887,721	P450Q	probably benign	Het
Trpm6	A	T	19: 18,750,045		probably null	Het
Ube4a	T	C	9: 44,925,973	D988G	probably damaging	Het
Vmn1r158	A	T	7: 22,790,300	S161R	probably benign	Het
Vps41	T	C	13: 18,841,252		probably null	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp617	T	A	8: 71,928,189		probably null	Het
Zfp808	C	T	13: 62,171,505	H183Y	probably benign	Het
Zfy1	A	T	Y: 725,496	C756*	probably null	Het
Zswim2	A	T	2: 83,915,607	Y496N	probably damaging	Het

Other mutations in Itgb7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Itgb7	APN	15	102227585	missense	probably benign	0.22
IGL01574:Itgb7	APN	15	102227540	missense	possibly damaging	0.83
IGL01814:Itgb7	APN	15	102223417	missense	possibly damaging	0.78
IGL01875:Itgb7	APN	15	102217995	missense	probably damaging	1.00
IGL01996:Itgb7	APN	15	102217977	missense	probably damaging	1.00
IGL02320:Itgb7	APN	15	102224337	missense	probably benign	0.04
IGL02541:Itgb7	APN	15	102223457	missense	probably benign	0.05
IGL02547:Itgb7	APN	15	102218510	missense	probably damaging	1.00
R0083:Itgb7	UTSW	15	102223482	missense	probably damaging	0.98
R0108:Itgb7	UTSW	15	102223482	missense	probably damaging	0.98
R0195:Itgb7	UTSW	15	102222183	unclassified	probably benign
R1033:Itgb7	UTSW	15	102223554	missense	probably damaging	1.00
R1627:Itgb7	UTSW	15	102223476	missense	probably damaging	0.97
R1999:Itgb7	UTSW	15	102222118	missense	probably damaging	1.00
R2150:Itgb7	UTSW	15	102222118	missense	probably damaging	1.00
R2331:Itgb7	UTSW	15	102223548	missense	probably damaging	1.00
R3747:Itgb7	UTSW	15	102222777	missense	probably damaging	1.00
R4758:Itgb7	UTSW	15	102216207	missense	probably benign	0.07
R4779:Itgb7	UTSW	15	102224413	missense	possibly damaging	0.54
R5134:Itgb7	UTSW	15	102217407	missense	probably damaging	1.00
R5158:Itgb7	UTSW	15	102217029	missense	probably benign	0.05
R5323:Itgb7	UTSW	15	102231624	intron	probably benign
R5416:Itgb7	UTSW	15	102217309	missense	probably benign	0.00
R5652:Itgb7	UTSW	15	102216203	missense	possibly damaging	0.48
R6089:Itgb7	UTSW	15	102217286	missense	probably benign	0.00
R6144:Itgb7	UTSW	15	102223482	missense	probably benign	0.45
R6384:Itgb7	UTSW	15	102224451	missense	probably benign	0.04
R6475:Itgb7	UTSW	15	102216266	missense	probably benign	0.12
R6754:Itgb7	UTSW	15	102216160	makesense	probably null
R6857:Itgb7	UTSW	15	102223465	missense	probably damaging	1.00
R7394:Itgb7	UTSW	15	102219254	missense	probably damaging	1.00
R8014:Itgb7	UTSW	15	102222652	missense	probably damaging	1.00
R8446:Itgb7	UTSW	15	102218608	missense	probably damaging	1.00
R8523:Itgb7	UTSW	15	102216522	missense	probably damaging	0.99
R8962:Itgb7	UTSW	15	102218602	missense	probably damaging	1.00
R9051:Itgb7	UTSW	15	102217924	missense	possibly damaging	0.88
R9074:Itgb7	UTSW	15	102224362	missense
R9105:Itgb7	UTSW	15	102227469	missense	probably damaging	1.00
R9369:Itgb7	UTSW	15	102223386	missense	probably damaging	1.00
R9378:Itgb7	UTSW	15	102227396	critical splice donor site	probably null
R9467:Itgb7	UTSW	15	102223554	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGCACGGGGAAGCTTTAG -3'
(R):5'- TCACCAACCTAGGGCAAAGG -3'

Sequencing Primer
(F):5'- TACAGAAAGTTAAGAGACGTCACC -3'
(R):5'- GCAGAGATGAGATGAAGGCCCTAG -3'

Posted On

2019-11-26