Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02869:Itgb5'

362451

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02869

Quality Score

Status

Chromosome

Chromosomal Location

33829665-33949338 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33844992 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 26 (N26S)

Ref Sequence

ENSEMBL: ENSMUSP00000069416 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069345
AA Change: N26S

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: N26S

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

possibly damaging
Transcript: ENSMUST00000115028
AA Change: N26S

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: N26S

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

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,867,459	S1142T	possibly damaging	Het
5330417C22Rik	A	G	3: 108,472,866	I309T	probably benign	Het
Actr3b	T	G	5: 25,832,435	V215G	probably damaging	Het
Adam9	C	T	8: 24,970,618	V617M	probably damaging	Het
Adgrl2	G	T	3: 148,890,605	P32T	probably damaging	Het
Ago3	A	T	4: 126,367,787		probably benign	Het
Allc	A	C	12: 28,573,207	I20M	probably benign	Het
Asic3	G	A	5: 24,416,974	W361*	probably null	Het
Atf7ip	A	G	6: 136,606,579	K1203E	probably damaging	Het
Babam2	C	A	5: 32,004,772	H272Q	possibly damaging	Het
Baz2b	G	A	2: 59,977,528	T129I	probably benign	Het
C130073F10Rik	A	T	4: 101,890,393	Y146*	probably null	Het
C530008M17Rik	A	G	5: 76,859,043	K1084E	unknown	Het
Cd247	A	G	1: 165,857,417	E74G	probably damaging	Het
Cdh17	A	T	4: 11,814,908	Q778L	probably benign	Het
Ceacam1	T	C	7: 25,476,541	D76G	probably benign	Het
Cela3a	T	C	4: 137,403,834	K198E	probably benign	Het
Ces2a	T	A	8: 104,739,059	D281E	probably damaging	Het
Cetn2	A	T	X: 72,914,921	D116E	probably damaging	Het
Ctu2	G	T	8: 122,478,791		probably null	Het
Cybb	T	C	X: 9,442,589	N469D	probably benign	Het
Cygb	C	T	11: 116,649,923	R79Q	probably damaging	Het
Cyp2d10	C	T	15: 82,403,868	V186M	possibly damaging	Het
Defb29	T	A	2: 152,539,022		probably null	Het
Depdc7	T	G	2: 104,730,349	Q100P	probably damaging	Het
Dhx30	A	C	9: 110,097,183	I91R	probably damaging	Het
Dnm1l	T	A	16: 16,341,424	K105*	probably null	Het
Efhc1	T	C	1: 20,967,343	I248T	probably damaging	Het
Entpd2	A	G	2: 25,398,108	T115A	probably damaging	Het
Epb42	G	T	2: 121,025,746	A439E	probably benign	Het
Epp13	T	C	7: 6,269,899		probably benign	Het
Esm1	T	G	13: 113,210,084	L81R	probably damaging	Het
F8	T	C	X: 75,287,381	S968G	probably benign	Het
Fam234b	T	G	6: 135,225,203	Y308D	probably damaging	Het
Fbxo46	T	G	7: 19,137,214	V586G	probably damaging	Het
Foxp1	C	A	6: 98,930,083		probably benign	Het
Gm10754	A	T	10: 97,682,274		probably benign	Het
Gm12355	T	A	11: 98,625,320	R76*	probably null	Het
Gm12695	A	C	4: 96,762,133		probably benign	Het
Gm438	T	C	4: 144,786,368	I54V	probably benign	Het
Gm5468	T	C	15: 25,414,640		probably benign	Het
Grhl1	T	C	12: 24,581,491	S66P	probably damaging	Het
Gstt3	A	T	10: 75,776,742		probably null	Het
Gtf2i	A	G	5: 134,279,427		probably benign	Het
Gzmk	C	A	13: 113,172,026	G175C	probably damaging	Het
Helz2	T	C	2: 181,231,146		probably benign	Het
Ift20	T	C	11: 78,539,954		probably benign	Het
Intu	A	G	3: 40,687,786	D491G	probably damaging	Het
Itch	G	T	2: 155,173,933		probably null	Het
Lama2	A	T	10: 27,015,538	S2526R	probably damaging	Het
Lat2	A	G	5: 134,608,173	I40T	probably damaging	Het
Lipa	T	A	19: 34,493,997	M393L	probably benign	Het
Lipa	G	T	19: 34,493,971		probably benign	Het
Lpcat1	T	A	13: 73,484,298	L10H	probably damaging	Het
Lpcat3	T	C	6: 124,703,007	Y348H	possibly damaging	Het
Lrp1b	A	T	2: 40,701,830	N50K	unknown	Het
Lrrk2	T	A	15: 91,750,277	Y1415N	probably damaging	Het
Lsamp	A	T	16: 42,144,715	T312S	probably benign	Het
Man2a2	T	C	7: 80,363,941	E454G	probably benign	Het
Mcm3	T	C	1: 20,808,839	K570R	probably damaging	Het
Mctp2	C	A	7: 72,228,471		probably null	Het
Msantd2	T	G	9: 37,523,500	C345W	probably damaging	Het
Musk	T	C	4: 58,354,078	I362T	probably benign	Het
Myh15	A	T	16: 49,145,404	N1224I	probably benign	Het
Myo18a	A	G	11: 77,864,786	Y1983C	probably damaging	Het
Myo18a	C	T	11: 77,829,873		probably benign	Het
Myrfl	G	T	10: 116,829,004	Q374K	probably damaging	Het
Ndrg1	T	A	15: 66,946,497	Q87H	probably benign	Het
Nol9	G	A	4: 152,046,573	C351Y	probably damaging	Het
Nr5a1	A	G	2: 38,708,129	S219P	probably benign	Het
Olfr902	T	C	9: 38,449,193	F107S	possibly damaging	Het
Olfr945	A	T	9: 39,258,224	Y149*	probably null	Het
Pcdhb19	A	G	18: 37,498,637	D495G	probably damaging	Het
Pfkm	A	G	15: 98,128,242	M573V	probably damaging	Het
Plec	A	T	15: 76,181,316	L1586Q	probably damaging	Het
Prelp	C	A	1: 133,915,267	E47*	probably null	Het
Rbm33	T	A	5: 28,410,755	I32N	probably damaging	Het
Rgs12	A	T	5: 35,025,883	D310V	probably damaging	Het
Ripor2	A	C	13: 24,696,529	H404P	possibly damaging	Het
Sh3d21	T	C	4: 126,162,241	E124G	probably benign	Het
Shroom2	C	T	X: 152,659,553	S872N	probably benign	Het
Slc44a5	A	G	3: 154,251,014	Y301C	probably damaging	Het
Smap1	A	T	1: 23,891,914	H66Q	possibly damaging	Het
Smyd1	G	T	6: 71,221,023		probably benign	Het
Spata5	G	T	3: 37,464,545	G743W	probably damaging	Het
Sptbn4	T	A	7: 27,394,148		probably benign	Het
Stag3	A	G	5: 138,282,693	K49R	probably damaging	Het
Stim1	C	A	7: 102,268,551	A46E	unknown	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tbc1d19	A	G	5: 53,835,217	T114A	probably benign	Het
Tln2	G	A	9: 67,221,525		probably benign	Het
Tmem2	T	A	19: 21,811,877	D558E	probably damaging	Het
Trmt10a	T	A	3: 138,152,184		probably null	Het
Vwde	G	A	6: 13,187,137	H784Y	probably damaging	Het
Zfp773	T	C	7: 7,134,233	T121A	probably benign	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
IGL02881:Itgb5	APN	16	33919905	missense	probably benign	0.00
IGL02941:Itgb5	APN	16	33944095	splice site	probably benign
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
R8309:Itgb5	UTSW	16	33865553	missense	probably benign	0.00
R8347:Itgb5	UTSW	16	33940678	missense	probably damaging	1.00
R8856:Itgb5	UTSW	16	33900592	missense	probably damaging	1.00
R9100:Itgb5	UTSW	16	33920181	missense	possibly damaging	0.91
R9194:Itgb5	UTSW	16	33900511	missense	probably damaging	1.00
R9309:Itgb5	UTSW	16	33920046	missense	probably benign	0.00
R9343:Itgb5	UTSW	16	33910456	splice site	probably benign
R9629:Itgb5	UTSW	16	33875925	missense	probably damaging	1.00
R9683:Itgb5	UTSW	16	33919965	missense	probably damaging	0.97
R9710:Itgb5	UTSW	16	33865547	missense	probably benign	0.00
X0022:Itgb5	UTSW	16	33845050	missense	possibly damaging	0.82

Posted On

2015-12-18