Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01121:Itgb5'

52949

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 #

IGL01121

Quality Score

Status

Chromosome

Chromosomal Location

33829665-33949338 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 33919989 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 490 (D490Y)

Ref Sequence

ENSEMBL: ENSMUSP00000069416 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069345
AA Change: D490Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: D490Y

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
AA Change: D490Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: D490Y

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 benign
Transcript: ENSMUST00000232262
AA Change: D177Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700046A07Rik	G	A	18: 62,755,148		noncoding transcript	Het
4930432E11Rik	A	T	7: 29,574,001		noncoding transcript	Het
Alg3	T	C	16: 20,610,647	E31G	probably damaging	Het
Arhgap29	A	G	3: 122,009,863	E764G	probably damaging	Het
Atp5j2	C	A	5: 145,184,568	V68L	probably benign	Het
Birc6	T	A	17: 74,631,038	I2645K	probably benign	Het
Capn11	A	G	17: 45,639,132	S369P	probably benign	Het
Car4	A	T	11: 84,964,346		probably null	Het
Ccdc185	C	T	1: 182,748,657	V156I	probably benign	Het
Cpsf2	G	T	12: 101,988,706	E245D	probably damaging	Het
Dnah11	T	C	12: 118,050,695	D2019G	probably benign	Het
Dscc1	A	G	15: 55,082,325		probably benign	Het
Dzip3	T	C	16: 48,944,881	D490G	probably benign	Het
E2f8	G	A	7: 48,867,821	Q745*	probably null	Het
Fat3	T	A	9: 15,998,401	T2102S	probably benign	Het
Fgf7	C	T	2: 126,088,232		probably benign	Het
Fstl4	T	C	11: 52,814,637	F47L	probably benign	Het
Gm15097	A	T	X: 149,804,328	R129S	possibly damaging	Het
Gm4297	C	T	X: 24,552,615	D200N	probably benign	Het
Kansl1	A	G	11: 104,335,596	S912P	probably benign	Het
Kcnq3	A	T	15: 66,005,977		probably benign	Het
Kctd6	A	G	14: 8,222,656	H166R	possibly damaging	Het
Kel	T	C	6: 41,702,409	D140G	probably benign	Het
Lrif1	C	A	3: 106,735,664	S177*	probably null	Het
Lrp1	A	T	10: 127,583,853	C962*	probably null	Het
Lypd5	A	T	7: 24,351,551	Y29F	probably benign	Het
Mmrn1	A	G	6: 60,975,944	D403G	possibly damaging	Het
Nhsl1	T	G	10: 18,511,710	V244G	probably damaging	Het
Olfr781	T	C	10: 129,332,935	I18T	probably benign	Het
Ptprd	A	T	4: 75,954,201		probably benign	Het
Rcan2	A	T	17: 44,017,884	I69L	probably damaging	Het
Rprd2	A	G	3: 95,776,550	L373P	probably damaging	Het
Slc10a4	T	C	5: 73,007,586	C174R	probably damaging	Het
Tas2r134	C	T	2: 51,627,989	T160I	probably damaging	Het
Tbc1d19	T	A	5: 53,897,062	L464*	probably null	Het
Tmem45a2	C	T	16: 57,040,790	D225N	possibly damaging	Het
Unc79	G	A	12: 103,165,631	C2139Y	probably damaging	Het
Vmn2r101	G	T	17: 19,589,674	G241C	probably damaging	Het
Vmn2r91	T	C	17: 18,136,504	V811A	possibly damaging	Het
Wdr11	T	C	7: 129,628,022	Y844H	probably benign	Het
Wdr70	T	C	15: 7,873,174	K656E	possibly damaging	Het
Zfp579	C	A	7: 4,993,247	C555F	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
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
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

2013-06-21