Mutagenetix > Incidental Mutation

Incidental Mutation 'R1387:Itgb5'

162460

Institutional Source

Beutler Lab

Gene Symbol

Itgb5

Ensembl Gene

ENSMUSG00000022817

Gene Name

integrin beta 5

Synonyms

beta5, [b]5B, [b]5, ESTM23, [b]-5, [b]5A, beta-5

MMRRC Submission

039449-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33650035-33769708 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 33720885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 3 (Y3*)

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 null
Transcript: ENSMUST00000069345
AA Change: Y316*

SMART Domains

Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: Y316*

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 null
Transcript: ENSMUST00000115028
AA Change: Y316*

SMART Domains

Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: Y316*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148462

Predicted Effect

probably null
Transcript: ENSMUST00000232262
AA Change: Y3*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.4%

Validation Efficiency

99% (82/83)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610303G11Rik	T	A	9: 98,068,812 (GRCm39)		noncoding transcript	Het
4930447C04Rik	C	A	12: 72,962,208 (GRCm39)	R52L	probably benign	Het
Abca13	C	T	11: 9,632,085 (GRCm39)	Q5002*	probably null	Het
Acacb	T	C	5: 114,338,573 (GRCm39)	I761T	probably benign	Het
Acap3	G	T	4: 155,983,937 (GRCm39)	L134F	probably benign	Het
Adamtsl1	T	C	4: 86,293,230 (GRCm39)		probably benign	Het
Adgrv1	A	G	13: 81,641,295 (GRCm39)	V3278A	possibly damaging	Het
Agxt2	T	C	15: 10,380,696 (GRCm39)	Y196H	probably damaging	Het
Akap13	T	C	7: 75,235,941 (GRCm39)	V172A	probably damaging	Het
Aqp8	A	G	7: 123,065,891 (GRCm39)	I229V	probably benign	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Brd10	A	G	19: 29,700,853 (GRCm39)	I812T	probably benign	Het
Cacng8	T	C	7: 3,463,672 (GRCm39)	S275P	possibly damaging	Het
Catsperg1	T	C	7: 28,906,289 (GRCm39)	Y138C	probably damaging	Het
Ccdc93	T	G	1: 121,418,918 (GRCm39)	L491R	probably damaging	Het
Cntnap2	T	C	6: 47,084,848 (GRCm39)	V1103A	probably benign	Het
Col12a1	C	T	9: 79,588,657 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,750,138 (GRCm39)		probably benign	Het
Csf2rb2	C	T	15: 78,182,414 (GRCm39)	A6T	probably damaging	Het
Cyp2j5	T	A	4: 96,522,522 (GRCm39)	S351C	probably damaging	Het
Cyth1	A	G	11: 118,073,172 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,223,309 (GRCm39)		probably benign	Het
Duoxa1	T	A	2: 122,134,468 (GRCm39)	I262F	possibly damaging	Het
Dync2h1	T	C	9: 7,125,816 (GRCm39)	D1930G	probably benign	Het
Eeig1	T	C	2: 32,455,635 (GRCm39)	S254P	possibly damaging	Het
Eno1	C	T	4: 150,332,590 (GRCm39)		probably benign	Het
Fam98a	T	A	17: 75,845,264 (GRCm39)	H494L	unknown	Het
Fcamr	C	A	1: 130,732,379 (GRCm39)	T122K	possibly damaging	Het
Foxq1	A	G	13: 31,743,288 (GRCm39)	D130G	probably damaging	Het
Glb1	T	A	9: 114,249,431 (GRCm39)	W5R	probably damaging	Het
Gm17661	GA	GAA	2: 90,917,709 (GRCm38)		noncoding transcript	Het
Gm5431	T	A	11: 48,785,842 (GRCm39)	R178W	possibly damaging	Het
Gys2	C	T	6: 142,407,009 (GRCm39)	V116M	probably benign	Het
Hif1a	C	T	12: 73,989,066 (GRCm39)	T651I	possibly damaging	Het
Kank3	A	G	17: 34,035,205 (GRCm39)	N7S	possibly damaging	Het
Kdm2b	G	T	5: 123,018,331 (GRCm39)	H981Q	probably damaging	Het
Kdm6a	C	T	X: 18,120,235 (GRCm39)		probably benign	Het
Kif1a	A	T	1: 92,983,672 (GRCm39)		probably benign	Het
Knl1	T	A	2: 118,901,211 (GRCm39)	S971T	possibly damaging	Het
Lcn6	T	C	2: 25,567,149 (GRCm39)	V50A	possibly damaging	Het
Llgl2	G	T	11: 115,743,958 (GRCm39)	V762F	probably damaging	Het
Lpcat4	T	C	2: 112,075,021 (GRCm39)	F342L	probably benign	Het
Lrp2	C	A	2: 69,287,262 (GRCm39)	G3725V	probably damaging	Het
Map1b	T	C	13: 99,569,158 (GRCm39)	T1188A	unknown	Het
Mecp2	G	A	X: 73,079,394 (GRCm39)	P362S	possibly damaging	Het
Mideas	C	A	12: 84,199,705 (GRCm39)	R1005L	probably damaging	Het
Mmp13	T	A	9: 7,282,033 (GRCm39)	F445Y	possibly damaging	Het
Myo5b	G	T	18: 74,777,272 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,116,805 (GRCm39)		probably benign	Het
Nadk2	C	A	15: 9,106,870 (GRCm39)	L384I	possibly damaging	Het
Napg	A	G	18: 63,119,283 (GRCm39)	I98V	possibly damaging	Het
Ncoa1	G	T	12: 4,324,790 (GRCm39)	N1041K	probably benign	Het
Nmu	A	T	5: 76,497,992 (GRCm39)	C64*	probably null	Het
Nobox	T	A	6: 43,284,132 (GRCm39)	K13M	probably damaging	Het
Nos1	T	C	5: 118,091,848 (GRCm39)		probably benign	Het
Nrg2	A	G	18: 36,329,792 (GRCm39)	V141A	probably damaging	Het
Or1b1	T	G	2: 36,994,880 (GRCm39)	I261L	probably benign	Het
Or2aj5	T	C	16: 19,424,777 (GRCm39)	I214V	probably damaging	Het
Or55b4	T	A	7: 102,133,911 (GRCm39)	I139L	probably benign	Het
Phldb2	C	T	16: 45,646,357 (GRCm39)	E71K	possibly damaging	Het
Pik3r4	T	A	9: 105,521,490 (GRCm39)	Y19N	probably damaging	Het
Pkhd1	A	C	1: 20,625,447 (GRCm39)		probably benign	Het
Pogk	G	T	1: 166,227,707 (GRCm39)	P148Q	possibly damaging	Het
Pten	G	T	19: 32,775,496 (GRCm39)	A79S	probably benign	Het
Ptpdc1	A	T	13: 48,739,796 (GRCm39)	V545E	possibly damaging	Het
Qdpr	G	C	5: 45,607,480 (GRCm39)		probably benign	Het
Rhbdd3	T	A	11: 5,054,121 (GRCm39)	H83Q	probably damaging	Het
Rnf6	A	G	5: 146,148,055 (GRCm39)	V321A	probably benign	Het
Rtf1	T	A	2: 119,536,126 (GRCm39)		probably null	Het
Serpina10	C	T	12: 103,594,500 (GRCm39)	V240I	probably benign	Het
Siah2	A	G	3: 58,598,935 (GRCm39)	V101A	possibly damaging	Het
Taok3	A	G	5: 117,344,720 (GRCm39)	K46R	probably damaging	Het
Tcaf2	A	C	6: 42,601,512 (GRCm39)	L849R	probably damaging	Het
Upf3a	T	C	8: 13,842,118 (GRCm39)	F178S	probably damaging	Het
Vmn1r218	G	A	13: 23,321,478 (GRCm39)	G195D	probably damaging	Het
Vmn2r59	A	G	7: 41,695,521 (GRCm39)	V297A	probably damaging	Het
Vmn2r70	T	A	7: 85,207,969 (GRCm39)	Q836L	probably benign	Het
Zfp473	A	G	7: 44,382,365 (GRCm39)	V655A	probably benign	Het
Zic5	A	G	14: 122,696,897 (GRCm39)	S573P	unknown	Het

Other mutations in Itgb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Itgb5	APN	16	33,705,345 (GRCm39)	missense	probably damaging	1.00
IGL01121:Itgb5	APN	16	33,740,359 (GRCm39)	missense	probably benign	0.00
IGL01620:Itgb5	APN	16	33,740,168 (GRCm39)	missense	probably damaging	1.00
IGL02332:Itgb5	APN	16	33,740,500 (GRCm39)	nonsense	probably null
IGL02869:Itgb5	APN	16	33,665,362 (GRCm39)	missense	possibly damaging	0.94
IGL02881:Itgb5	APN	16	33,740,275 (GRCm39)	missense	probably benign	0.00
IGL02941:Itgb5	APN	16	33,764,465 (GRCm39)	splice site	probably benign
IGL03216:Itgb5	APN	16	33,723,208 (GRCm39)	missense	probably benign	0.38
IGL03351:Itgb5	APN	16	33,730,922 (GRCm39)	missense	probably benign	0.00
PIT4812001:Itgb5	UTSW	16	33,740,357 (GRCm39)	missense	probably damaging	1.00
R0744:Itgb5	UTSW	16	33,720,953 (GRCm39)	missense	probably damaging	0.99
R0829:Itgb5	UTSW	16	33,764,571 (GRCm39)	missense	probably benign	0.29
R0836:Itgb5	UTSW	16	33,720,953 (GRCm39)	missense	probably damaging	0.99
R1703:Itgb5	UTSW	16	33,730,870 (GRCm39)	missense	probably benign	0.01
R1783:Itgb5	UTSW	16	33,760,932 (GRCm39)	missense	probably benign	0.13
R1826:Itgb5	UTSW	16	33,685,930 (GRCm39)	missense	possibly damaging	0.48
R1889:Itgb5	UTSW	16	33,730,839 (GRCm39)	missense	probably damaging	1.00
R2374:Itgb5	UTSW	16	33,740,168 (GRCm39)	missense	probably damaging	1.00
R4307:Itgb5	UTSW	16	33,769,102 (GRCm39)	missense	possibly damaging	0.80
R4355:Itgb5	UTSW	16	33,665,367 (GRCm39)	missense	probably damaging	0.98
R4796:Itgb5	UTSW	16	33,705,391 (GRCm39)	missense	possibly damaging	0.83
R4879:Itgb5	UTSW	16	33,696,348 (GRCm39)	missense	probably damaging	1.00
R6165:Itgb5	UTSW	16	33,719,612 (GRCm39)	missense	probably benign	0.01
R6584:Itgb5	UTSW	16	33,705,400 (GRCm39)	missense	probably damaging	1.00
R6617:Itgb5	UTSW	16	33,766,962 (GRCm39)	missense	probably benign	0.01
R6748:Itgb5	UTSW	16	33,719,667 (GRCm39)	missense	probably damaging	1.00
R6979:Itgb5	UTSW	16	33,740,356 (GRCm39)	missense	probably damaging	1.00
R7090:Itgb5	UTSW	16	33,705,464 (GRCm39)	missense	probably damaging	1.00
R7150:Itgb5	UTSW	16	33,761,013 (GRCm39)	missense	probably benign	0.03
R7403:Itgb5	UTSW	16	33,723,163 (GRCm39)	critical splice acceptor site	probably null
R7418:Itgb5	UTSW	16	33,705,464 (GRCm39)	missense	probably damaging	1.00
R7719:Itgb5	UTSW	16	33,740,486 (GRCm39)	missense	probably benign	0.01
R8309:Itgb5	UTSW	16	33,685,923 (GRCm39)	missense	probably benign	0.00
R8347:Itgb5	UTSW	16	33,761,048 (GRCm39)	missense	probably damaging	1.00
R8856:Itgb5	UTSW	16	33,720,962 (GRCm39)	missense	probably damaging	1.00
R9100:Itgb5	UTSW	16	33,740,551 (GRCm39)	missense	possibly damaging	0.91
R9194:Itgb5	UTSW	16	33,720,881 (GRCm39)	missense	probably damaging	1.00
R9309:Itgb5	UTSW	16	33,740,416 (GRCm39)	missense	probably benign	0.00
R9343:Itgb5	UTSW	16	33,730,826 (GRCm39)	splice site	probably benign
R9629:Itgb5	UTSW	16	33,696,295 (GRCm39)	missense	probably damaging	1.00
R9683:Itgb5	UTSW	16	33,740,335 (GRCm39)	missense	probably damaging	0.97
R9710:Itgb5	UTSW	16	33,685,917 (GRCm39)	missense	probably benign	0.00
X0022:Itgb5	UTSW	16	33,665,420 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GCTGATGGACTTGGTTATTAGGCCC -3'
(R):5'- CTTCTAAGCACAGCTCCATTGACCC -3'

Sequencing Primer
(F):5'- ATTAGGCCCTTGGTTGACG -3'
(R):5'- cacacacacacacacactc -3'

Posted On

2014-03-17