Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02941:Itgb5'

364525

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itgb5

Ensembl Gene

ENSMUSG00000022817

Gene Name

integrin beta 5

Synonyms

ESTM23, [b]-5, beta-5, beta5, [b]5, [b]5A, [b]5B

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02941

Quality Score

Status

Chromosome

Chromosomal Location

33829665-33949338 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 33944095 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069345] [ENSMUST00000115028] [ENSMUST00000232262]

Predicted Effect

probably benign
Transcript: ENSMUST00000069345

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817

Domain	Start	End	E-Value	Type
PSI	27	76	1.4e-7	SMART
INB	35	463	1.18e-284	SMART
VWA	137	372	5.95e-7	SMART
internal_repeat_1	492	549	3.16e-7	PROSPERO
EGF	554	586	1.95e1	SMART
Integrin_B_tail	635	719	1.56e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115028

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817

Domain	Start	End	E-Value	Type
PSI	27	76	1.4e-7	SMART
INB	35	463	1.18e-284	SMART
VWA	137	372	5.95e-7	SMART
internal_repeat_1	492	549	3.16e-7	PROSPERO
EGF	554	586	1.95e1	SMART
Integrin_B_tail	635	719	1.56e-21	SMART
Integrin_b_cyt	743	790	5.97e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231409

Predicted Effect

probably benign
Transcript: ENSMUST00000232262

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation do not appear to differ from normal in respect to development, reproduction, adenovirus infection, or wound healing. Mutant keratinocytes do show reduced migration on, and adhesion to, vitronectin in vitro. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405O20Rik	G	A	7: 50,599,536	R106Q	probably damaging	Het
Amhr2	T	C	15: 102,447,289	V223A	probably damaging	Het
Aqr	T	A	2: 114,113,354	H1101L	probably damaging	Het
Arnt	T	A	3: 95,460,370		probably benign	Het
Cacnb2	G	A	2: 14,958,829	V85I	probably benign	Het
Cast	A	T	13: 74,700,687	D727E	probably damaging	Het
Ccdc134	C	T	15: 82,140,950	R217W	probably damaging	Het
Col5a3	A	G	9: 20,804,666	S360P	unknown	Het
Cyp4f16	T	C	17: 32,537,087	I30T	possibly damaging	Het
Dopey2	T	C	16: 93,755,473	F267L	probably benign	Het
Fbxo3	A	G	2: 104,050,294	T250A	probably damaging	Het
Gm4953	C	T	1: 159,168,393		noncoding transcript	Het
Gm9242	T	C	16: 97,491,079		probably benign	Het
Gsr	G	A	8: 33,689,425	V354I	probably damaging	Het
Hecw1	T	A	13: 14,377,726	D96V	probably damaging	Het
Hist2h2be	A	G	3: 96,221,416	Y84C	possibly damaging	Het
Il18r1	A	G	1: 40,498,551	Y492C	probably damaging	Het
Lars2	T	G	9: 123,459,585	L832R	probably damaging	Het
Ms4a6c	A	G	19: 11,471,102		probably benign	Het
Nrxn1	T	C	17: 90,208,383	S1227G	probably damaging	Het
Olfr15	T	C	16: 3,839,816	V281A	possibly damaging	Het
Olfr339	T	C	2: 36,422,120	C241R	probably damaging	Het
Olfr584	A	G	7: 103,086,321	T263A	probably benign	Het
Pcdh17	A	G	14: 84,448,307	Y738C	probably damaging	Het
Pcsk5	C	A	19: 17,447,501	C1646F	probably damaging	Het
Pirb	A	G	7: 3,717,378	V332A	probably damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Polrmt	A	T	10: 79,737,258		probably benign	Het
Saxo1	G	T	4: 86,445,584	R221S	probably damaging	Het
Specc1l	A	G	10: 75,241,188	I93V	probably benign	Het
St8sia2	T	A	7: 73,976,649		probably benign	Het
Tep1	A	T	14: 50,866,037	N265K	probably damaging	Het
Thbd	A	T	2: 148,407,034	Y305N	probably damaging	Het
Tmem120a	T	C	5: 135,735,751	T325A	probably damaging	Het
Tmem2	G	A	19: 21,823,843	D775N	possibly damaging	Het
Vill	G	A	9: 119,066,887		probably benign	Het
Wdr35	A	G	12: 9,027,507	D1060G	probably damaging	Het
Xrn2	T	A	2: 147,026,524	F166I	probably damaging	Het
Zc3h7a	T	G	16: 11,158,594		probably null	Het
Zdhhc13	G	A	7: 48,817,138		probably benign	Het
Zfp808	T	A	13: 62,173,130	N724K	possibly damaging	Het

Other mutations in Itgb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Itgb5	APN	16	33884975	missense	probably damaging	1.00
IGL01121:Itgb5	APN	16	33919989	missense	probably benign	0.00
IGL01620:Itgb5	APN	16	33919798	missense	probably damaging	1.00
IGL02332:Itgb5	APN	16	33920130	nonsense	probably null
IGL02869:Itgb5	APN	16	33844992	missense	possibly damaging	0.94
IGL02881:Itgb5	APN	16	33919905	missense	probably benign	0.00
IGL03216:Itgb5	APN	16	33902838	missense	probably benign	0.38
IGL03351:Itgb5	APN	16	33910552	missense	probably benign	0.00
PIT4812001:Itgb5	UTSW	16	33919987	missense	probably damaging	1.00
R0744:Itgb5	UTSW	16	33900583	missense	probably damaging	0.99
R0829:Itgb5	UTSW	16	33944201	missense	probably benign	0.29
R0836:Itgb5	UTSW	16	33900583	missense	probably damaging	0.99
R1387:Itgb5	UTSW	16	33900515	nonsense	probably null
R1703:Itgb5	UTSW	16	33910500	missense	probably benign	0.01
R1783:Itgb5	UTSW	16	33940562	missense	probably benign	0.13
R1826:Itgb5	UTSW	16	33865560	missense	possibly damaging	0.48
R1889:Itgb5	UTSW	16	33910469	missense	probably damaging	1.00
R2374:Itgb5	UTSW	16	33919798	missense	probably damaging	1.00
R4307:Itgb5	UTSW	16	33948732	missense	possibly damaging	0.80
R4355:Itgb5	UTSW	16	33844997	missense	probably damaging	0.98
R4796:Itgb5	UTSW	16	33885021	missense	possibly damaging	0.83
R4879:Itgb5	UTSW	16	33875978	missense	probably damaging	1.00
R6165:Itgb5	UTSW	16	33899242	missense	probably benign	0.01
R6584:Itgb5	UTSW	16	33885030	missense	probably damaging	1.00
R6617:Itgb5	UTSW	16	33946592	missense	probably benign	0.01
R6748:Itgb5	UTSW	16	33899297	missense	probably damaging	1.00
R6979:Itgb5	UTSW	16	33919986	missense	probably damaging	1.00
R7090:Itgb5	UTSW	16	33885094	missense	probably damaging	1.00
R7150:Itgb5	UTSW	16	33940643	missense	probably benign	0.03
R7403:Itgb5	UTSW	16	33902793	critical splice acceptor site	probably null
R7418:Itgb5	UTSW	16	33885094	missense	probably damaging	1.00
R7719:Itgb5	UTSW	16	33920116	missense	probably benign	0.01
X0022:Itgb5	UTSW	16	33845050	missense	possibly damaging	0.82

Posted On

2015-12-18