Mutagenetix > Incidental Mutation

Incidental Mutation 'R9100:Itgb5'

691651

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 #

R9100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33829665-33949338 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33920181 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 554 (S554T)

Ref Sequence

ENSEMBL: ENSMUSP00000069416 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069345
AA Change: S554T

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: S554T

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

possibly damaging
Transcript: ENSMUST00000115028
AA Change: S554T

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: S554T

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

possibly damaging
Transcript: ENSMUST00000232262
AA Change: S241T

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (75/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,200,067	T151A	probably benign	Het
4932438A13Rik	A	G	3: 37,044,758	K1256R		Het
Abcc4	A	G	14: 118,616,388	V444A	possibly damaging	Het
Add1	T	A	5: 34,613,278		probably benign	Het
Adgrg3	A	G	8: 95,036,263		probably benign	Het
Adgrl3	A	C	5: 81,694,452	Q809P	possibly damaging	Het
Ankmy2	T	C	12: 36,186,807	C205R	probably damaging	Het
Atp6v1b2	A	G	8: 69,088,824	N11S		Het
B3gnt6	T	A	7: 98,194,751	M1L	not run	Het
Ccdc88b	T	C	19: 6,855,845	E278G	probably damaging	Het
Cdca8	T	C	4: 124,936,445	T45A	probably benign	Het
Ces2b	C	A	8: 104,831,589		probably benign	Het
Clip4	G	A	17: 71,810,889	G310R	probably damaging	Het
Cmklr1	G	C	5: 113,613,982	H319Q	probably benign	Het
Cnot3	A	G	7: 3,658,193	D567G	probably benign	Het
Cnot6l	T	C	5: 96,083,016	D364G	probably damaging	Het
Cpped1	A	G	16: 11,828,555	V111A		Het
Cyp11b2	T	C	15: 74,851,146	K468E	probably damaging	Het
Dpp4	T	G	2: 62,374,389	T245P	possibly damaging	Het
Fat2	A	G	11: 55,262,521	W3622R	probably damaging	Het
Fat4	A	C	3: 39,010,654	K4920Q		Het
Frmpd2	A	G	14: 33,530,450	I656M	probably benign	Het
Gck	A	G	11: 5,906,516	Y214H	probably damaging	Het
Gde1	C	T	7: 118,695,082	R166H	probably benign	Het
Gdf7	A	T	12: 8,298,652	F215Y	unknown	Het
Gdpgp1	A	G	7: 80,238,534	I104M	probably benign	Het
Gldc	A	G	19: 30,099,914	S953P	possibly damaging	Het
Gm13089	T	G	4: 143,699,157	N72T	probably benign	Het
Gm5483	T	A	16: 36,187,915	M57K	possibly damaging	Het
Golga3	C	T	5: 110,189,678	H411Y	probably benign	Het
Gpn1	G	T	5: 31,498,396	R101I	probably damaging	Het
Klhl1	G	A	14: 96,346,928	L289F	probably damaging	Het
Klhl13	C	T	X: 23,247,494	R95Q	probably benign	Het
Kmt2d	G	C	15: 98,849,951	T3164R	unknown	Het
Knl1	T	C	2: 119,068,988	V390A	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	GCCACAGCCCCCACAGGAACTACA	7: 142,175,099		probably benign	Het
Lamtor4	G	A	5: 138,256,333		probably benign	Het
Lonrf1	AGGCGGCGGCGGCGG	AGGCGGCGGCGG	8: 36,248,765		probably benign	Het
Ltbp1	C	T	17: 75,315,107	L829F	probably benign	Het
Ltbp1	T	A	17: 75,315,108	L829H	probably damaging	Het
Mrgpra1	C	T	7: 47,334,984	E316K	probably damaging	Het
Muc16	T	A	9: 18,645,670	H3109L	unknown	Het
Nck1	T	C	9: 100,495,508	E368G	probably damaging	Het
Nox4	G	A	7: 87,376,240	R525Q	probably benign	Het
Nus1	A	T	10: 52,429,191		probably null	Het
Nxph2	T	C	2: 23,399,768	V44A	probably benign	Het
Olfr1029	A	G	2: 85,975,752	K170E	probably benign	Het
Olfr1161	T	C	2: 88,024,986	I88T	probably benign	Het
Olfr1277	A	G	2: 111,269,749	L206P	probably benign	Het
Olfr1305	A	G	2: 111,873,261	M198T	possibly damaging	Het
Olfr1427	G	T	19: 12,098,890	H250N	probably benign	Het
Olfr213	A	T	6: 116,541,029	N192I	possibly damaging	Het
Olfr390	A	G	11: 73,787,861	K308E	probably benign	Het
Otof	T	C	5: 30,382,352	D1039G	possibly damaging	Het
Parpbp	T	A	10: 88,133,107	Q159L	possibly damaging	Het
Per2	A	T	1: 91,423,742	L1014Q	possibly damaging	Het
Pik3ap1	C	G	19: 41,324,485		silent	Het
Pik3ca	A	G	3: 32,460,019	N885D	probably damaging	Het
Pip5k1c	T	C	10: 81,309,222	V299A	probably benign	Het
Polr3h	A	T	15: 81,922,516		probably benign	Het
Pramef6	T	A	4: 143,897,076	N176I	probably benign	Het
Pus3	C	A	9: 35,565,650	Q248K	probably benign	Het
Sectm1a	T	A	11: 121,069,743	Q82L	possibly damaging	Het
Sema3e	A	G	5: 14,232,194	Y448C	probably damaging	Het
Slc12a4	A	T	8: 105,949,142	S584T	probably benign	Het
Slc25a40	T	C	5: 8,449,613	F249L	probably benign	Het
St3gal6	T	A	16: 58,486,430	N79I		Het
Stxbp4	A	T	11: 90,535,494	I496K	possibly damaging	Het
Sulf1	A	G	1: 12,807,894	Y202C	probably damaging	Het
Swt1	A	G	1: 151,423,505		probably null	Het
Tdrd6	T	C	17: 43,625,414	Y1581C	possibly damaging	Het
Tenm4	G	C	7: 96,845,854	G1163A	probably damaging	Het
Tlr4	A	G	4: 66,840,281	E437G	probably benign	Het
Txnrd2	A	T	16: 18,437,565	H101L	probably damaging	Het
Uba3	A	T	6: 97,186,710	V306E	probably damaging	Het
Unc5b	T	C	10: 60,768,373	Q814R	probably damaging	Het
Vamp5	T	G	6: 72,370,321	E5A	possibly damaging	Het
Vmn1r69	T	A	7: 10,580,137	R222S	probably damaging	Het
Zfp507	G	A	7: 35,795,021	T199I	probably benign	Het
Zfyve19	T	G	2: 119,211,237	L95R	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
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
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'- ACATACACCTGTGGGCTGTG -3'
(R):5'- GTTTATAGTCCACATAAGGCCACCC -3'

Sequencing Primer
(F):5'- GCTGTGCGAGTGTGACC -3'
(R):5'- AGGGCTTGGCTTGTCCC -3'

Posted On

2021-12-30