Mutagenetix > Incidental Mutations

Incidental Mutation 'R6979:Itgb5'

542637

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 #

R6979 (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 33919986 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 489 (C489S)

Ref Sequence

ENSEMBL: ENSMUSP00000069416 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000069345
AA Change: C489S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: C489S

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: C489S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: C489S

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 damaging
Transcript: ENSMUST00000232262
AA Change: C176S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.9676

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

100% (50/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	T	3: 60,040,003	T374M	probably benign	Het
Aspg	A	G	12: 112,120,944	D278G	possibly damaging	Het
Aspm	C	A	1: 139,480,485	A2370E	probably damaging	Het
Ccnt2	T	C	1: 127,775,136	M65T	probably damaging	Het
Cd163	A	G	6: 124,317,986	T670A	probably benign	Het
Cpne3	G	A	4: 19,533,098	T279I	probably benign	Het
Ctdspl	G	A	9: 119,040,530	V227M	probably damaging	Het
Ctnnd2	A	G	15: 30,619,230	E99G	probably damaging	Het
Dapk1	T	C	13: 60,748,281	S728P	probably damaging	Het
Dmxl2	A	G	9: 54,450,879	I512T	possibly damaging	Het
Dopey1	A	T	9: 86,521,642	T1630S	possibly damaging	Het
Dqx1	A	G	6: 83,061,011	D460G	probably damaging	Het
Foxg1	T	C	12: 49,384,784		probably benign	Het
H2-Q2	T	A	17: 35,345,647		probably null	Het
Hes6	T	C	1: 91,413,088	E17G	possibly damaging	Het
Ighv1-42	T	C	12: 114,937,228	Y79C	possibly damaging	Het
Itfg2	T	C	6: 128,411,591	D311G	probably damaging	Het
Map4k5	A	T	12: 69,822,848	C488S	probably damaging	Het
Mark1	C	T	1: 184,912,628	G377D	possibly damaging	Het
Mat2a	A	G	6: 72,435,113	V318A	probably damaging	Het
Mpp7	T	G	18: 7,355,049	N459T	possibly damaging	Het
Mrc2	C	A	11: 105,348,635	N1348K	probably damaging	Het
Mroh5	T	C	15: 73,793,129	K264R	probably benign	Het
Mtor	A	G	4: 148,524,473	M1529V	possibly damaging	Het
Mtrr	C	T	13: 68,570,003		probably null	Het
Nwd1	C	T	8: 72,667,660	P517L	probably damaging	Het
Olfr1100	A	G	2: 86,978,233	S188P	probably damaging	Het
Olfr1197	T	A	2: 88,729,184	R138S	probably benign	Het
Polr1c	A	G	17: 46,246,169	F63L	probably damaging	Het
Polrmt	C	T	10: 79,746,566		probably null	Het
Pomt2	T	C	12: 87,130,351	I287M	probably damaging	Het
Prkar2a	T	A	9: 108,733,143	N190K	possibly damaging	Het
Prl3d3	T	A	13: 27,157,562	Y59N	possibly damaging	Het
Prl5a1	T	A	13: 28,151,206	F199L	probably benign	Het
Prpf38b	A	G	3: 108,911,324	V40A	probably benign	Het
Ptchd1	T	A	X: 155,574,712	Y499F	probably damaging	Het
Ptgs1	A	G	2: 36,251,299	D586G	probably benign	Het
Slx4	T	C	16: 3,985,015	K1312E	probably damaging	Het
Smok3c	A	G	5: 138,064,725	D158G	probably benign	Het
Spen	A	T	4: 141,478,063	D1084E	unknown	Het
Tcp11l1	C	T	2: 104,706,439	G27D	probably benign	Het
Tep1	A	G	14: 50,838,637	S1679P	possibly damaging	Het
Tmem259	C	T	10: 79,978,557	V322I	possibly damaging	Het
Tmpo	A	T	10: 91,152,497		probably null	Het
Ttn	C	A	2: 76,724,793	A30623S	probably damaging	Het
Ube2l3	G	A	16: 17,159,977		probably benign	Het
Unkl	A	G	17: 25,199,916	D146G	probably damaging	Het
Vmn1r51	A	T	6: 90,129,204	H34L	possibly damaging	Het
Vmn2r17	A	G	5: 109,428,399	T379A	possibly damaging	Het
Zfp35	G	T	18: 24,003,870	G424C	probably benign	Het
Zfp420	T	A	7: 29,876,021	H555Q	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
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
X0022:Itgb5	UTSW	16	33845050	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AGGCATCCTTTGAAGTGTCC -3'
(R):5'- GAAAAGCTGTCACACTCGCAG -3'

Sequencing Primer
(F):5'- CATCCTTTGAAGTGTCCGTGGAG -3'
(R):5'- GCAGAAAGGTCCGTAGATCCTC -3'

Posted On

2018-11-28