Mutagenetix > Incidental Mutation

Incidental Mutation 'R9343:Itgb5'

731361

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9343 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33829665-33949338 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 33910456 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156332 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069345

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817

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

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817

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

probably benign
Transcript: ENSMUST00000232262

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (45/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	G	2: 103,717,160	I960V	probably benign	Het
Alpk3	A	G	7: 81,092,331	D632G	probably benign	Het
Aplp2	A	T	9: 31,211,639	L30Q	unknown	Het
Axl	A	T	7: 25,774,119	Y361N	probably damaging	Het
Brinp2	A	T	1: 158,249,520		probably benign	Het
Bsn	T	C	9: 108,115,502	D1017G	probably damaging	Het
Cc2d2a	A	T	5: 43,718,657	D1046V	probably damaging	Het
Cdc42bpg	G	A	19: 6,314,523	G594S	probably damaging	Het
Clcn6	A	G	4: 148,014,001	S519P	probably benign	Het
Cnot2	T	G	10: 116,510,421	H92P		Het
Col2a1	T	C	15: 97,979,894	D1049G	probably damaging	Het
Creld1	C	T	6: 113,489,767	A237V	probably benign	Het
Csf2rb2	A	T	15: 78,287,087		probably benign	Het
Csmd3	G	A	15: 48,151,605	T643I	probably damaging	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fcmr	A	T	1: 130,874,335	T109S		Het
Grap	C	A	11: 61,671,725	P174Q	possibly damaging	Het
Kidins220	A	G	12: 25,008,079	N561S	probably damaging	Het
Mkl2	T	C	16: 13,400,927	V479A	probably benign	Het
Mri1	A	T	8: 84,257,167	S32T	probably benign	Het
Muc4	A	T	16: 32,751,153	T344S	possibly damaging	Het
Npc1	A	G	18: 12,201,712	I661T	possibly damaging	Het
Npy1r	A	G	8: 66,704,099	N57S	probably damaging	Het
Pds5b	A	G	5: 150,780,721	D863G	probably damaging	Het
Phf14	T	A	6: 11,961,564	V400D	probably damaging	Het
Polr2l	A	G	7: 141,473,333	I56T	probably benign	Het
Ppat	A	G	5: 76,916,037	I422T	probably benign	Het
Prkcg	T	A	7: 3,310,608	S110R	possibly damaging	Het
Rab7b	A	T	1: 131,711,802		probably benign	Het
Rnf152	A	T	1: 105,284,526	L102Q		Het
Samd12	A	G	15: 53,719,692	V82A	probably damaging	Het
Serpina1e	T	A	12: 103,951,040	R123S	probably benign	Het
Slit1	T	A	19: 41,627,298	N794I	probably damaging	Het
Surf6	T	C	2: 26,892,994	K154R	probably damaging	Het
Tln2	C	T	9: 67,323,071	A71T	probably benign	Het
Trim3	A	G	7: 105,611,466	Y649H	probably benign	Het
Ttll7	T	A	3: 146,961,742	W808R	probably damaging	Het
Tvp23a	T	C	16: 10,427,423	D104G	probably damaging	Het
Upp2	A	G	2: 58,755,327		probably benign	Het
Vipr1	G	A	9: 121,642,927		probably null	Het
Vmn1r119	A	G	7: 21,012,433	V8A	probably benign	Het
Vmn1r209	T	A	13: 22,806,376	H48L	probably damaging	Het
Wdr11	T	C	7: 129,630,799		probably null	Het
Zcchc17	T	C	4: 130,316,753	D207G	probably damaging	Het
Zfp78	T	C	7: 6,378,943	S331P	probably 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
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
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'- ATTCCAAGCTCACAGAGGGAG -3'
(R):5'- GGGAGCTACAAAATTGTCAGATTC -3'

Sequencing Primer
(F):5'- AGGGCCAAGTCAGGTCTAC -3'
(R):5'- GATTCAGAGAATAATTACCCAAGCG -3'

Posted On

2022-11-09