Mutagenetix > Incidental Mutations

Incidental Mutation 'R6584:Itgb5'

524301

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6584 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33829665-33949338 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33885030 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 230 (F230S)

Ref Sequence

ENSEMBL: ENSMUSP00000110680 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000069345
AA Change: F230S

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

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: F230S

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: F230S

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

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: F230S

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	T	C	19: 29,718,728	N1122D	possibly damaging	Het
Agr2	G	A	12: 35,995,626	R37Q	probably benign	Het
Amfr	T	C	8: 93,974,155	D559G	probably benign	Het
Atg2b	T	C	12: 105,657,995	Y711C	probably damaging	Het
Clgn	T	C	8: 83,400,036	I122T	probably benign	Het
Ets1	T	A	9: 32,733,997	F180Y	probably damaging	Het
Fbxw14	C	G	9: 109,286,543	C53S	possibly damaging	Het
Gm13088	T	A	4: 143,655,470	T219S	possibly damaging	Het
Ifna9	A	G	4: 88,592,138	L83P	probably damaging	Het
Igf2r	A	G	17: 12,701,250	C1401R	probably damaging	Het
Il22	A	T	10: 118,205,027	M13L	probably benign	Het
Il9r	A	G	11: 32,191,782	Y319H	probably benign	Het
Klk1b27	T	A	7: 44,054,511	I26N	possibly damaging	Het
Lrba	C	T	3: 86,664,576	R300C	probably damaging	Het
Map3k4	A	C	17: 12,260,491	Y730D	probably damaging	Het
Ogfrl1	T	G	1: 23,369,863	K427N	probably benign	Het
Olfr107	G	A	17: 37,405,905	R119H	probably benign	Het
Paxip1	G	A	5: 27,758,452	H792Y	probably damaging	Het
Phf20	T	C	2: 156,294,123	S621P	probably damaging	Het
Slitrk3	C	A	3: 73,049,225	G738V	probably damaging	Het
Smurf1	T	C	5: 144,882,523	D598G	probably damaging	Het
St6galnac2	A	G	11: 116,694,504	S19P	probably benign	Het
Stra6l	G	A	4: 45,869,635		probably null	Het
Tbc1d9	C	A	8: 83,261,000	Q863K	probably damaging	Het
Traf1	T	A	2: 34,958,058	D8V	probably damaging	Het
Vmn2r24	T	G	6: 123,815,805	M697R	possibly damaging	Het
Wdr27	T	A	17: 14,901,769	Y625F	probably damaging	Het
Wdr49	T	C	3: 75,337,758	M339V	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
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
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
X0022:Itgb5	UTSW	16	33845050	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TACTTAGTGAAGGCCAGGACAG -3'
(R):5'- CTAGAGATTCCGCCATGGTG -3'

Sequencing Primer
(F):5'- GTGGCTCACAACCATCTGTAATGG -3'
(R):5'- ATGGTGCGGCTGAGCTCAG -3'

Posted On

2018-06-22