Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4812001:Itgb5'

556943

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 #

PIT4812001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33829665-33949338 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 33919987 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 489 (C489F)

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 damaging
Transcript: ENSMUST00000069345
AA Change: C489F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: C489F

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: C489F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: C489F

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: C176F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 93.8%
3x: 91.0%
10x: 85.3%
20x: 73.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,630,053	S252P	possibly damaging	Het
4933409G03Rik	G	A	2: 68,588,948	V14I	probably benign	Het
Adgrf5	T	G	17: 43,450,369	V985G	probably damaging	Het
Ankrd44	A	T	1: 54,723,038	Y542*	probably null	Het
Atp13a3	T	C	16: 30,362,578	T75A	probably damaging	Het
Atr	T	C	9: 95,910,649	F1675L	probably benign	Het
Atrnl1	A	G	19: 57,731,623	I1082V	probably benign	Het
C87977	A	G	4: 144,209,516	I56T	probably benign	Het
Clip1	T	A	5: 123,630,675	R620S	probably benign	Het
Cped1	T	C	6: 22,122,294	F391S	probably benign	Het
Cracr2a	T	C	6: 127,625,870	L230P	probably damaging	Het
Dctn1	T	A	6: 83,199,762	V1266E	possibly damaging	Het
Dlg1	T	A	16: 31,846,885	F687I	probably benign	Het
Dnah8	C	A	17: 30,708,445	D1358E	probably benign	Het
Dnajc11	A	G	4: 151,952,889	R84G	probably benign	Het
Dnajc14	C	A	10: 128,806,683	T158N	probably damaging	Het
Dscc1	A	G	15: 55,082,261	L346P	probably damaging	Het
Efcab3	A	G	11: 105,099,979	I71V	probably null	Het
Erbb3	T	A	10: 128,574,379	Q670L	possibly damaging	Het
Ercc4	G	A	16: 13,144,447	E652K	probably benign	Het
Ercc6l2	T	A	13: 63,858,257	V591D	possibly damaging	Het
Fam126b	T	G	1: 58,548,703	D117A	possibly damaging	Het
Fam3c	C	T	6: 22,321,370	G134E	probably damaging	Het
Frmd5	A	G	2: 121,586,446	V70A	probably benign	Het
Gjc1	A	T	11: 102,800,981	Y65*	probably null	Het
Gm3033	A	C	14: 3,848,891	L137F		Het
Gria4	C	A	9: 4,427,128	A771S	probably damaging	Het
Hc	A	G	2: 35,029,452	L674P	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Inpp5f	A	T	7: 128,692,308	Y696F	probably benign	Het
Itga11	C	A	9: 62,732,193	Q157K	probably damaging	Het
Klhl38	C	T	15: 58,322,542	G264S	probably benign	Het
Krt78	C	T	15: 101,948,069	V436M	probably damaging	Het
Mia2	A	T	12: 59,101,579	D75V	possibly damaging	Het
Mphosph6	T	A	8: 117,799,149	Q20L	probably damaging	Het
Ogfr	C	T	2: 180,595,511	P630S	possibly damaging	Het
Olfr1206	G	A	2: 88,864,970	V122M	probably benign	Het
Olfr1431	T	G	19: 12,210,253	I229S	probably damaging	Het
Olfr15	A	T	16: 3,839,530	K186*	probably null	Het
Pbx3	T	C	2: 34,224,619	E101G	probably damaging	Het
Pcca	T	A	14: 122,790,382	N587K	probably benign	Het
Pdia3	G	T	2: 121,433,530	A287S	probably damaging	Het
Pfas	T	A	11: 68,990,036	D209V		Het
Pter	A	T	2: 12,980,368	I170F	probably damaging	Het
Ptprq	A	T	10: 107,666,567	V830E	probably damaging	Het
Rab11fip5	T	C	6: 85,341,558	D783G	probably benign	Het
Rbm19	T	C	5: 120,128,250	V446A	possibly damaging	Het
Selp	A	G	1: 164,132,263	N363D	probably benign	Het
Six2	C	A	17: 85,685,301	S258I	possibly damaging	Het
Smc1b	A	G	15: 85,069,651	V1139A	possibly damaging	Het
Sp1	A	G	15: 102,408,408	T121A	possibly damaging	Het
Sucla2	A	T	14: 73,579,449	I210L	possibly damaging	Het
Trank1	T	C	9: 111,347,912	L339P	probably damaging	Het
Ttll5	T	A	12: 85,926,861	D794E	probably benign	Het
Usp32	C	T	11: 85,010,074	V1107I	probably damaging	Het
Vmn1r195	T	C	13: 22,278,863	Y168H	probably benign	Het
Vmn1r223	A	G	13: 23,249,890	N218S	probably damaging	Het
Vmn2r25	T	A	6: 123,823,488	S632C	probably damaging	Het
Vwa3a	A	T	7: 120,776,133	K390I	probably damaging	Het
Zfp442	A	T	2: 150,409,741	C80*	probably null	Het
Zic1	A	T	9: 91,364,341	I226N	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
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
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'- GGCATCCTTTGAAGTGTCCG -3'
(R):5'- AGGAAAAGCTGTCACACTCG -3'

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

Posted On

2019-06-07