Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02701:Itga5'

304117

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 #

IGL02701

Quality Score

Status

Chromosome

Chromosomal Location

103344286-103366763 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103347766 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 920 (C920G)

Ref Sequence

ENSEMBL: ENSMUSP00000023128 (fasta)

Gene Model

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

AlphaFold

P11688

Predicted Effect

probably damaging
Transcript: ENSMUST00000023128
AA Change: C920G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023128
Gene: ENSMUSG00000000555
AA Change: C920G

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: 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
1700015F17Rik	A	G	5: 5,466,623		probably null	Het
4833423E24Rik	A	G	2: 85,484,169	L480P	probably damaging	Het
Arhgap21	A	G	2: 20,892,091	C125R	probably damaging	Het
Blmh	A	G	11: 76,971,910	D383G	probably benign	Het
Brca1	T	C	11: 101,525,235	E691G	probably damaging	Het
Chrm3	G	A	13: 9,878,464	R179*	probably null	Het
Cnrip1	A	G	11: 17,078,415	T116A	probably benign	Het
Csmd2	T	C	4: 128,496,141	V2223A	probably benign	Het
Dalrd3	T	A	9: 108,572,284	V143D	possibly damaging	Het
Ddx60	A	T	8: 61,979,341	I886L	probably damaging	Het
Dennd4a	T	C	9: 64,897,353	F1325L	possibly damaging	Het
Dnmt3l	A	T	10: 78,055,022	T253S	probably benign	Het
Gde1	T	A	7: 118,698,637	T9S	probably damaging	Het
Ggcx	T	A	6: 72,418,472		probably benign	Het
Gm813	G	A	16: 58,615,807	S51L	probably benign	Het
Hspg2	C	T	4: 137,557,174	A3481V	probably damaging	Het
Igf1r	T	C	7: 68,201,249	Y931H	possibly damaging	Het
Ighv12-3	A	C	12: 114,366,801	S25A	probably damaging	Het
Kmt5b	A	G	19: 3,796,681	D118G	probably benign	Het
Lrp1b	T	G	2: 41,246,017	N1647T	possibly damaging	Het
Lrrc71	T	C	3: 87,741,772	E363G	probably benign	Het
Mapk1	A	G	16: 17,015,906	Y41C	probably benign	Het
Mib1	T	C	18: 10,747,357	V178A	probably damaging	Het
Olfr1022	A	G	2: 85,869,458	I289V	probably benign	Het
Olfr159	A	G	4: 43,770,366	I215T	probably benign	Het
Olfr472	A	T	7: 107,903,442	T242S	probably benign	Het
Plb1	T	C	5: 32,364,197	V1464A	unknown	Het
Plekhg5	T	C	4: 152,103,022	S82P	probably damaging	Het
Plxna4	T	C	6: 32,517,559	T41A	probably benign	Het
Ppip5k1	A	C	2: 121,316,649		probably null	Het
Rpl14	T	C	9: 120,573,573		probably benign	Het
Slc44a2	T	C	9: 21,347,951	F554L	probably benign	Het
Slco1b2	T	A	6: 141,685,545	V635E	probably benign	Het
Sv2a	T	A	3: 96,187,131	C261S	probably damaging	Het
Thbs2	T	C	17: 14,683,361	I353V	probably benign	Het
Tspan4	G	A	7: 141,492,028	V205M	probably damaging	Het
Vezf1	A	T	11: 88,076,221	R93*	probably null	Het
Wwox	T	A	8: 114,706,368	V258D	probably damaging	Het
Zmynd12	G	T	4: 119,444,755		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
IGL01474:Itga5	APN	15	103354270	nonsense	probably null
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
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

2015-04-16