Mutagenetix > Incidental Mutation

Incidental Mutation 'R6165:Itgb5'

490114

Institutional Source

Beutler Lab

Gene Symbol

Itgb5

Ensembl Gene

ENSMUSG00000022817

Gene Name

integrin beta 5

Synonyms

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

MMRRC Submission

044311-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33829665-33949338 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33899242 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 261 (E261G)

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: E261G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: E261G

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: E261G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: E261G

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: ENSMUST00000134262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148462

Predicted Effect

probably benign
Transcript: ENSMUST00000232262

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.1%

Validation Efficiency

98% (47/48)

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
Ankrd35	A	G	3: 96,683,307	E303G	possibly damaging	Het
C2cd5	T	C	6: 143,050,228	T389A	possibly damaging	Het
Catsperb	T	A	12: 101,575,816	Y592N	possibly damaging	Het
Cnot9	T	C	1: 74,528,793	V280A	probably benign	Het
Cyld	A	G	8: 88,746,933	I927V	possibly damaging	Het
Etfdh	A	T	3: 79,604,944	S490T	probably benign	Het
Fam214a	A	G	9: 75,025,672	T974A	probably damaging	Het
Fance	C	T	17: 28,326,094	R150C	probably benign	Het
Far1	A	G	7: 113,554,218	K353E	probably benign	Het
Fbn1	T	C	2: 125,332,363	I1858V	probably damaging	Het
Frem1	T	C	4: 82,956,255	K1359E	probably benign	Het
Ghdc	T	G	11: 100,769,102	E273A	possibly damaging	Het
Gpt	A	G	15: 76,697,970	D209G	probably benign	Het
H2afy	A	T	13: 56,104,455	N108K	probably damaging	Het
Hspb7	T	C	4: 141,422,551	F83L	probably benign	Het
Itga7	A	G	10: 128,942,935	I306M	probably benign	Het
Kcnj14	G	T	7: 45,820,000	A27E	possibly damaging	Het
Kif13b	A	G	14: 64,742,311	H470R	probably damaging	Het
Maats1	A	G	16: 38,333,811	F124S	possibly damaging	Het
Morc3	T	C	16: 93,841,383	F18L	probably damaging	Het
Mrgprb8	T	A	7: 48,388,817	C79S	possibly damaging	Het
Mroh2b	T	A	15: 4,918,350	M549K	probably benign	Het
Msl1	T	C	11: 98,804,847	V563A	probably damaging	Het
Nwd1	C	T	8: 72,662,186	R81W	probably damaging	Het
Olfr1489	A	T	19: 13,633,143	I11F	possibly damaging	Het
Olfr1489	C	T	19: 13,633,588	A159V	probably benign	Het
Phf2	C	A	13: 48,813,865		probably null	Het
Pjvk	T	G	2: 76,650,218		probably null	Het
Rgl2	A	G	17: 33,931,765	T66A	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Rtkn	G	T	6: 83,145,963	E67D	probably damaging	Het
Serpinb9	T	A	13: 33,008,824	F121L	possibly damaging	Het
Slc17a2	G	A	13: 23,815,070	V149I	probably benign	Het
Sobp	A	G	10: 43,022,603	S329P	probably damaging	Het
Syne1	A	T	10: 5,425,678	L138Q	probably damaging	Het
Tfr2	T	A	5: 137,580,257	V449D	probably damaging	Het
Tmem151b	T	C	17: 45,545,785	Y243C	probably damaging	Het
Trank1	T	C	9: 111,391,872	V2559A	probably benign	Het
Trim35	T	C	14: 66,309,205	Y474H	probably damaging	Het
Uso1	A	T	5: 92,187,267	L495F	probably damaging	Het
Wdr24	A	G	17: 25,826,421	I377V	probably benign	Het
Xpo5	T	A	17: 46,235,957	V878D	possibly damaging	Het
Zfc3h1	A	G	10: 115,420,669	I1515V	probably benign	Het
Zfp319	CA	C	8: 95,328,105	489	probably null	Het
Zfp384	T	G	6: 125,024,933		probably null	Het
Zfp704	G	T	3: 9,443,886	P416T	probably benign	Het
Zfr	C	T	15: 12,146,245	A294V	unknown	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGTCAGTGGGTGTCTAGGCAC -3'
(R):5'- TTGCAGCACTCACCATCTGG -3'

Sequencing Primer
(F):5'- GTGTGAGCAGAGCTTCTCCTC -3'
(R):5'- CCATCTGGTTAGAGGCTGTGTACTC -3'

Posted On

2017-10-10