Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01620:Itgb5'

92514

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 #

IGL01620

Quality Score

Status

Chromosome

Chromosomal Location

33829665-33949338 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33919798 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 426 (V426E)

Ref Sequence

ENSEMBL: ENSMUSP00000069416 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000069345
AA Change: V426E

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

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: V426E

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 damaging
Transcript: ENSMUST00000115028
AA Change: V426E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: V426E

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

probably damaging
Transcript: ENSMUST00000232262
AA Change: V113E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.9383

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	T	15: 102,339,950	V277D	probably damaging	Het
Akap9	T	A	5: 3,960,218	V325D	probably benign	Het
Ambra1	A	G	2: 91,911,412		probably null	Het
Ano9	A	G	7: 141,110,439	L94P	probably damaging	Het
Atad3a	G	T	4: 155,746,078	T521K	probably damaging	Het
Bckdk	A	G	7: 127,905,776	K126E	possibly damaging	Het
Bdp1	A	T	13: 100,084,205		probably benign	Het
Btbd17	T	C	11: 114,795,773	T26A	probably benign	Het
Cadps2	G	A	6: 23,587,462	S314L	probably benign	Het
Ccdc155	T	C	7: 45,189,960	D359G	probably damaging	Het
Ccl8	A	T	11: 82,116,609	Q90L	probably damaging	Het
Chit1	T	C	1: 134,150,519	V355A	probably damaging	Het
Col17a1	A	G	19: 47,668,539	I555T	possibly damaging	Het
Dmwd	T	A	7: 19,081,234		probably null	Het
Dtna	T	C	18: 23,625,087	I483T	probably damaging	Het
Eloc	T	A	1: 16,643,278		probably benign	Het
Emc7	T	A	2: 112,464,774	L177H	probably damaging	Het
Emsy	T	A	7: 98,626,624	K352I	probably damaging	Het
Ermn	T	C	2: 58,052,490	E76G	probably benign	Het
Flot1	A	T	17: 35,829,871	E203V	possibly damaging	Het
Hsd11b2	A	G	8: 105,522,897	K266R	probably benign	Het
Iqck	A	T	7: 118,877,678	K154M	probably damaging	Het
Kif13a	T	C	13: 46,864,820	K53R	probably benign	Het
Klhl2	A	T	8: 64,779,738	H168Q	probably damaging	Het
Lpcat2b	T	C	5: 107,433,893	Y363H	probably damaging	Het
Lrp6	A	T	6: 134,511,262	N290K	probably damaging	Het
Map2k3	T	C	11: 60,950,047	F301L	possibly damaging	Het
Mns1	A	G	9: 72,456,913		probably benign	Het
Nos1	A	G	5: 117,905,309		probably null	Het
Olfr346	T	A	2: 36,688,538	C179S	probably damaging	Het
Olfr652	T	A	7: 104,565,013	V264D	probably damaging	Het
Pask	A	T	1: 93,310,122	H1374Q	possibly damaging	Het
Pik3r1	G	A	13: 101,686,220	A658V	probably damaging	Het
Ppp2r2a	A	T	14: 67,070,277	F14I	probably damaging	Het
Ptprc	C	T	1: 138,068,410	E904K	possibly damaging	Het
Rab11fip4	G	T	11: 79,691,879	D591Y	possibly damaging	Het
Rab3gap2	A	G	1: 185,204,326	T29A	probably benign	Het
Rgs19	A	G	2: 181,689,588	V84A	possibly damaging	Het
Shisa6	T	G	11: 66,217,879	M391L	probably benign	Het
Sipa1l1	G	A	12: 82,422,489	G1254D	probably damaging	Het
Slfn8	A	T	11: 83,004,233	Y358*	probably null	Het
Taf3	G	T	2: 9,952,661	R232S	probably benign	Het
Terb2	T	A	2: 122,204,857	H186Q	possibly damaging	Het
Trav13n-4	T	C	14: 53,364,016	S81P	probably damaging	Het
Trim30d	G	T	7: 104,472,126	P321T	possibly damaging	Het
Tyrp1	G	T	4: 80,844,802	G309*	probably null	Het
Vps13d	C	A	4: 145,094,867	G2979V	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
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
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
X0022:Itgb5	UTSW	16	33845050	missense	possibly damaging	0.82

Posted On

2013-12-09