Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01474:Itga5'

88382

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itga5

Ensembl Gene

ENSMUSG00000000555

Gene Name

integrin alpha 5 (fibronectin receptor alpha)

Synonyms

Fnra, Cd49e

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01474

Quality Score

Status

Chromosome

Chromosomal Location

103344286-103366763 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 103354270 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 324 (Q324*)

Ref Sequence

ENSEMBL: ENSMUSP00000023128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023128] [ENSMUST00000215331]

AlphaFold

P11688

Predicted Effect

probably null
Transcript: ENSMUST00000023128
AA Change: Q324*

SMART Domains

Protein: ENSMUSP00000023128
Gene: ENSMUSG00000000555
AA Change: Q324*

Domain	Start	End	E-Value	Type
low complexity region	17	40	N/A	INTRINSIC
Int_alpha	59	118	2.27e-8	SMART
Int_alpha	271	321	9.6e-7	SMART
Int_alpha	325	387	1.03e-15	SMART
Int_alpha	391	447	4.17e-16	SMART
Int_alpha	455	511	1.49e-3	SMART
SCOP:d1m1xa2	651	789	3e-44	SMART
SCOP:d1m1xa3	792	992	1e-62	SMART
transmembrane domain	1003	1025	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183535

Predicted Effect

probably benign
Transcript: ENSMUST00000215331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230775

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes the integrin alpha 5 chain, which is proteolytically processed to generate light and heavy chains that join with beta 1 to form a fibronectin receptor. In addition to adhesion, integrins are known to participate in cell-surface mediated signaling. Integrin alpha 5 and integrin alpha V chains are produced by distinct genes. Homozygous knockout mice for this gene exhibit embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe defects in posterior trunk and yolk sac mesodermal structures, lack of epithelialization of somites, reduced numbers of Schwann cells, and lethality around embryonic day 10-11. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	T	13: 91,772,783	K336I	possibly damaging	Het
Acsbg2	A	G	17: 56,861,621	I166T	possibly damaging	Het
Bpifc	T	A	10: 86,000,639	M1L	probably damaging	Het
Ccnb2	T	A	9: 70,419,023	N44I	probably benign	Het
Cdc73	C	T	1: 143,671,332	V276M	probably benign	Het
Cnot7	A	G	8: 40,507,449		probably null	Het
Col11a1	T	A	3: 114,217,134		probably benign	Het
Coro1c	T	C	5: 113,882,155		probably benign	Het
Crocc	A	G	4: 141,035,392		probably benign	Het
Dync2h1	A	T	9: 7,102,493	Y396N	probably benign	Het
Gm2888	T	A	14: 3,032,041	D116E	probably damaging	Het
Gm29326	A	T	7: 29,562,589		noncoding transcript	Het
Gm9774	G	T	3: 92,428,343	Q351K	probably damaging	Het
Greb1	A	G	12: 16,684,501	V1496A	probably benign	Het
Hdac7	A	G	15: 97,797,939		probably null	Het
Hectd4	A	G	5: 121,336,649	T2778A	possibly damaging	Het
Hist2h2bb	A	G	3: 96,269,809		probably benign	Het
Hivep2	A	T	10: 14,143,662	H2059L	probably damaging	Het
Ift88	A	T	14: 57,478,074	I525F	probably benign	Het
Klhl14	T	G	18: 21,557,854	H513P	probably damaging	Het
Lama5	A	T	2: 180,196,570	D837E	probably damaging	Het
Mrvi1	A	T	7: 110,871,433	S898T	possibly damaging	Het
Muc6	C	A	7: 141,651,307	C215F	probably damaging	Het
Myh15	A	G	16: 49,132,098	K844E	probably damaging	Het
Neb	A	G	2: 52,328,905	V31A	unknown	Het
Nipbl	A	G	15: 8,311,209	I2009T	possibly damaging	Het
Olfr700	A	G	7: 106,805,940	I174T	probably benign	Het
Piwil2	T	C	14: 70,398,218	R536G	probably benign	Het
Pld3	A	G	7: 27,532,619	V412A	probably damaging	Het
Prkaa2	A	C	4: 105,049,332		probably null	Het
Rdh9	T	C	10: 127,790,945	L289P	probably damaging	Het
Rusc2	C	T	4: 43,416,434	S580L	probably damaging	Het
Sidt2	A	G	9: 45,946,982		probably null	Het
Slc18b1	A	T	10: 23,803,850	K92N	probably benign	Het
Slc20a2	G	A	8: 22,535,557	V92M	possibly damaging	Het
Slc4a11	A	T	2: 130,685,544	F644I	probably damaging	Het
Spata31d1d	A	T	13: 59,730,215		probably benign	Het
Spef2	T	C	15: 9,663,158	M846V	probably benign	Het
Syncrip	T	C	9: 88,480,747	T3A	probably benign	Het

Other mutations in Itga5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00914:Itga5	APN	15	103350372	critical splice donor site	probably null
IGL01102:Itga5	APN	15	103346675	missense	probably benign	0.13
IGL01768:Itga5	APN	15	103351570	missense	probably benign	0.34
IGL01832:Itga5	APN	15	103355949	nonsense	probably null
IGL02188:Itga5	APN	15	103347717	missense	probably benign	0.30
IGL02701:Itga5	APN	15	103347766	missense	probably damaging	0.98
IGL02838:Itga5	APN	15	103351609	missense	probably damaging	1.00
IGL02955:Itga5	APN	15	103350834	missense	possibly damaging	0.48
R0617:Itga5	UTSW	15	103356315	critical splice donor site	probably null
R0845:Itga5	UTSW	15	103350769	missense	probably benign	0.07
R1210:Itga5	UTSW	15	103357473	missense	possibly damaging	0.76
R1522:Itga5	UTSW	15	103356782	nonsense	probably null
R1576:Itga5	UTSW	15	103351617	missense	probably damaging	0.96
R1666:Itga5	UTSW	15	103347902	missense	probably benign	0.00
R1808:Itga5	UTSW	15	103350399	missense	probably damaging	1.00
R1836:Itga5	UTSW	15	103346014	missense	probably damaging	1.00
R1964:Itga5	UTSW	15	103354314	missense	probably damaging	1.00
R4290:Itga5	UTSW	15	103352257	critical splice donor site	probably null
R4458:Itga5	UTSW	15	103350203	missense	probably damaging	1.00
R4610:Itga5	UTSW	15	103350832	missense	probably damaging	1.00
R4676:Itga5	UTSW	15	103357210	missense	probably damaging	1.00
R4795:Itga5	UTSW	15	103347760	missense	probably benign	0.05
R4796:Itga5	UTSW	15	103347760	missense	probably benign	0.05
R4837:Itga5	UTSW	15	103354084	missense	probably damaging	0.99
R4929:Itga5	UTSW	15	103353235	missense	probably benign	0.42
R5896:Itga5	UTSW	15	103351087	missense	probably benign
R5947:Itga5	UTSW	15	103356785	missense	probably damaging	1.00
R5957:Itga5	UTSW	15	103351429	missense	probably benign	0.05
R6153:Itga5	UTSW	15	103357453	missense	probably damaging	1.00
R6353:Itga5	UTSW	15	103352523	missense	probably damaging	0.98
R6657:Itga5	UTSW	15	103350795	missense	probably damaging	1.00
R6698:Itga5	UTSW	15	103351381	missense	probably benign	0.15
R6891:Itga5	UTSW	15	103357543	missense	probably damaging	1.00
R6981:Itga5	UTSW	15	103350226	missense	probably benign	0.00
R7574:Itga5	UTSW	15	103350449	missense	probably damaging	1.00
R7762:Itga5	UTSW	15	103349757	missense	probably benign	0.01
R7813:Itga5	UTSW	15	103357314	critical splice acceptor site	probably null
R7984:Itga5	UTSW	15	103355952	missense	probably damaging	1.00

Posted On

2013-11-18