Mutagenetix > Incidental Mutation

Incidental Mutation 'R8145:Itga3'

632766

Institutional Source

Beutler Lab

Gene Symbol

Itga3

Ensembl Gene

ENSMUSG00000001507

Gene Name

integrin alpha 3

Synonyms

VLA-3 alpha 3, alpha3-integrin

MMRRC Submission

067573-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8145 (G1)

Quality Score

189.009

Status

Validated

Chromosome

Chromosomal Location

94935300-94967627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94943290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 936 (W936R)

Ref Sequence

ENSEMBL: ENSMUSP00000113556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001548] [ENSMUST00000107739] [ENSMUST00000120375]

AlphaFold

Q62470

Predicted Effect

probably damaging
Transcript: ENSMUST00000001548
AA Change: W936R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001548
Gene: ENSMUSG00000001507
AA Change: W936R

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Int_alpha	48	110	4.18e-7	SMART
Int_alpha	246	300	5.01e0	SMART
Int_alpha	304	361	3.07e-14	SMART
Int_alpha	366	419	4.17e-16	SMART
Int_alpha	427	483	7.57e1	SMART
low complexity region	521	534	N/A	INTRINSIC
SCOP:d1m1xa3	758	984	7e-54	SMART
transmembrane domain	994	1016	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107739
AA Change: W905R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103368
Gene: ENSMUSG00000001507
AA Change: W905R

Domain	Start	End	E-Value	Type
Int_alpha	20	79	1.05e2	SMART
Int_alpha	215	269	5.01e0	SMART
Int_alpha	273	330	3.07e-14	SMART
Int_alpha	335	388	4.17e-16	SMART
Int_alpha	396	452	7.57e1	SMART
low complexity region	490	503	N/A	INTRINSIC
low complexity region	775	789	N/A	INTRINSIC
transmembrane domain	963	985	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120375
AA Change: W936R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113556
Gene: ENSMUSG00000001507
AA Change: W936R

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Int_alpha	48	110	4.18e-7	SMART
Int_alpha	246	300	5.01e0	SMART
Int_alpha	304	361	3.07e-14	SMART
Int_alpha	366	419	4.17e-16	SMART
Int_alpha	427	483	7.57e1	SMART
low complexity region	521	534	N/A	INTRINSIC
SCOP:d1m1xa3	758	984	2e-53	SMART
transmembrane domain	994	1016	N/A	INTRINSIC

Meta Mutation Damage Score

0.9417

Coding Region Coverage

1x: 99.7%
3x: 99.5%
10x: 97.9%
20x: 90.4%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: This gene encodes a subunit of integrin family of cell surface proteins. The encoded protein undergoes post-translational processing to form a disulfide bond-linked dimer comprised of heavy and light chains. At the cell surface, the encoded protein non-covalently associates with the integrin beta-1 subunit to form a heterodimer that interacts with many extracellular matrix proteins including fibronectin and laminin. Mice lacking the encoded protein die during the first day after birth due to severe abnormalities in kidneys. Mice lacking the encoded protein specifically in the basal layer of epidermis display several skin defects and accelerated wound healing. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects of the kidney and submandibular gland, decreased bronchial branching of the lungs, skin blisters at the dermal-epidermal junction, abnormal layering of the cerebral cortex and perinatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg6	A	T	4: 99,634,564 (GRCm39)	D273V	probably damaging	Het
Ankk1	T	A	9: 49,327,097 (GRCm39)	H694L	possibly damaging	Het
Asb7	G	T	7: 66,309,696 (GRCm39)	N173K	probably benign	Het
Atp10b	A	T	11: 43,092,949 (GRCm39)	Q428L	probably damaging	Het
Bag3	A	G	7: 128,147,612 (GRCm39)	E409G	possibly damaging	Het
Bltp1	T	C	3: 37,052,416 (GRCm39)	S3039P	probably damaging	Het
Bpifb2	T	A	2: 153,733,232 (GRCm39)	V398E	probably damaging	Het
Btf3l4b	A	T	13: 96,217,649 (GRCm39)	D63E	probably benign	Het
Ccr6	T	C	17: 8,474,945 (GRCm39)	V50A	probably benign	Het
Cdcp3	G	T	7: 130,898,045 (GRCm39)	V2088L	unknown	Het
Cdx1	T	C	18: 61,152,995 (GRCm39)	N204D	probably damaging	Het
Ciao1	T	C	2: 127,087,726 (GRCm39)	D203G	possibly damaging	Het
Cldn7	A	T	11: 69,856,892 (GRCm39)	Y47F	possibly damaging	Het
Col6a1	A	T	10: 76,559,305 (GRCm39)	D110E	possibly damaging	Het
Cpne6	C	A	14: 55,752,025 (GRCm39)	Q261K	probably benign	Het
Crebbp	T	C	16: 3,946,389 (GRCm39)	T497A	probably benign	Het
Cyp2s1	A	G	7: 25,507,467 (GRCm39)		probably null	Het
Ddx42	A	T	11: 106,130,887 (GRCm39)	I454F	possibly damaging	Het
Ddx5	G	T	11: 106,672,911 (GRCm39)	A538E	probably benign	Het
Dnajb1	T	A	8: 84,336,944 (GRCm39)	V238D	probably damaging	Het
Dntt	A	G	19: 41,044,224 (GRCm39)	Y463C	probably damaging	Het
Eif4b	A	G	15: 102,001,423 (GRCm39)	T437A	unknown	Het
Eppk1	T	C	15: 75,990,900 (GRCm39)	T1994A	possibly damaging	Het
Fbxw15	A	T	9: 109,384,658 (GRCm39)	C381S	probably benign	Het
Fosl2	T	A	5: 32,310,412 (GRCm39)	V287D	probably damaging	Het
Gdpd4	A	G	7: 97,690,077 (GRCm39)	T590A	probably benign	Het
Gm49368	A	G	7: 127,712,487 (GRCm39)	E877G	probably null	Het
Grin2b	C	T	6: 135,709,497 (GRCm39)	A1350T	probably benign	Het
Gzmk	A	G	13: 113,308,430 (GRCm39)	L257P	probably damaging	Het
Has2	T	A	15: 56,545,175 (GRCm39)	K142N	probably benign	Het
Hectd1	T	C	12: 51,831,016 (GRCm39)	E944G	possibly damaging	Het
Hmcn1	T	C	1: 150,629,411 (GRCm39)	R949G	probably benign	Het
Hmcn2	A	G	2: 31,313,117 (GRCm39)	E3442G	probably damaging	Het
Irf9	T	A	14: 55,843,255 (GRCm39)	C152*	probably null	Het
Klhl11	G	T	11: 100,354,740 (GRCm39)	D360E	probably damaging	Het
Lnx1	G	A	5: 74,846,060 (GRCm39)	T130I	probably benign	Het
Lrrc36	C	T	8: 106,170,396 (GRCm39)	P82L	probably damaging	Het
Map4k4	T	C	1: 40,039,694 (GRCm39)	C29R		Het
Mki67	T	C	7: 135,296,065 (GRCm39)	K2990E	probably benign	Het
Mnt	G	A	11: 74,733,799 (GRCm39)	A477T	unknown	Het
Mroh9	A	G	1: 162,890,096 (GRCm39)	S214P	probably benign	Het
Mrps18b	C	A	17: 36,225,293 (GRCm39)	R94L	possibly damaging	Het
Myh6	T	A	14: 55,191,382 (GRCm39)	I820F	probably benign	Het
Nphp3	A	G	9: 103,913,050 (GRCm39)	T943A	probably benign	Het
Or51a25	C	A	7: 102,372,937 (GRCm39)	L253F	probably damaging	Het
Or52b4i	A	G	7: 102,191,830 (GRCm39)	H229R	probably benign	Het
Papolb	T	C	5: 142,514,353 (GRCm39)	D430G	probably benign	Het
Pdzd2	T	C	15: 12,407,458 (GRCm39)	H334R	probably benign	Het
Pkd1l2	T	A	8: 117,781,742 (GRCm39)	M768L	probably benign	Het
Pklr	G	T	3: 89,052,795 (GRCm39)	R547L	probably benign	Het
Pla2g4a	T	C	1: 149,716,394 (GRCm39)	Y697C	probably benign	Het
Prkcd	T	C	14: 30,324,019 (GRCm39)	T435A	probably benign	Het
Rfx1	C	T	8: 84,800,657 (GRCm39)	P86L	probably benign	Het
Rnf19b	C	A	4: 128,977,862 (GRCm39)	A693D	probably benign	Het
Scn9a	A	G	2: 66,317,754 (GRCm39)	I1578T	probably damaging	Het
Slamf9	A	G	1: 172,303,942 (GRCm39)	S96G	probably benign	Het
Slc17a8	T	C	10: 89,412,233 (GRCm39)	D584G	probably benign	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc2a7	C	A	4: 150,252,818 (GRCm39)	T486K	probably damaging	Het
Slc6a20a	G	A	9: 123,466,065 (GRCm39)	A592V	probably damaging	Het
Spz1	T	C	13: 92,711,609 (GRCm39)	D289G	probably benign	Het
Sspo	G	A	6: 48,444,683 (GRCm39)	C2226Y	possibly damaging	Het
Taf4b	T	G	18: 14,963,085 (GRCm39)	D608E	probably damaging	Het
Tagap1	A	T	17: 7,223,526 (GRCm39)	I390N	probably damaging	Het
Tcp11l2	A	G	10: 84,444,480 (GRCm39)	N430D	probably damaging	Het
Thsd7b	T	C	1: 129,688,036 (GRCm39)	L649P	probably damaging	Het
Tmprss15	C	T	16: 78,757,473 (GRCm39)	G956R	probably damaging	Het
Tnc	G	T	4: 63,935,716 (GRCm39)	Q407K	probably benign	Het
Tti1	C	A	2: 157,849,509 (GRCm39)	E577*	probably null	Het
Vmn2r79	A	T	7: 86,686,862 (GRCm39)	M748L	probably benign	Het
Zbtb37	C	T	1: 160,847,654 (GRCm39)	R451Q	probably damaging	Het
Zfp1002	T	C	2: 150,096,455 (GRCm39)	K325E	probably benign	Het
Zfp566	A	T	7: 29,777,785 (GRCm39)	I132N	probably benign	Het
Zik1	C	T	7: 10,223,930 (GRCm39)	G389E	probably damaging	Het
Zzef1	A	T	11: 72,799,295 (GRCm39)	K2382*	probably null	Het

Other mutations in Itga3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Itga3	APN	11	94,956,712 (GRCm39)	missense	probably damaging	1.00
IGL02020:Itga3	APN	11	94,948,216 (GRCm39)	missense	probably benign	0.02
IGL02413:Itga3	APN	11	94,959,597 (GRCm39)	missense	probably damaging	1.00
IGL02562:Itga3	APN	11	94,959,619 (GRCm39)	missense	probably benign	0.02
PIT4508001:Itga3	UTSW	11	94,946,719 (GRCm39)	missense	probably benign	0.20
R0485:Itga3	UTSW	11	94,952,796 (GRCm39)	missense	probably benign	0.05
R1548:Itga3	UTSW	11	94,937,745 (GRCm39)	critical splice donor site	probably null
R1677:Itga3	UTSW	11	94,946,585 (GRCm39)	missense	probably damaging	0.96
R2062:Itga3	UTSW	11	94,944,902 (GRCm39)	missense	possibly damaging	0.92
R2088:Itga3	UTSW	11	94,943,320 (GRCm39)	missense	probably benign	0.10
R2679:Itga3	UTSW	11	94,959,136 (GRCm39)	splice site	probably benign
R3697:Itga3	UTSW	11	94,953,551 (GRCm39)	missense	probably benign	0.00
R3839:Itga3	UTSW	11	94,948,095 (GRCm39)	critical splice donor site	probably null
R4210:Itga3	UTSW	11	94,953,449 (GRCm39)	missense	probably benign	0.00
R4533:Itga3	UTSW	11	94,948,119 (GRCm39)	missense	probably benign	0.15
R4849:Itga3	UTSW	11	94,967,097 (GRCm39)	missense	probably benign
R4863:Itga3	UTSW	11	94,952,793 (GRCm39)	missense	probably damaging	1.00
R4889:Itga3	UTSW	11	94,959,127 (GRCm39)	missense	probably benign	0.13
R5218:Itga3	UTSW	11	94,953,574 (GRCm39)	missense	probably benign	0.01
R6046:Itga3	UTSW	11	94,953,541 (GRCm39)	missense	probably benign	0.28
R6087:Itga3	UTSW	11	94,943,269 (GRCm39)	critical splice donor site	probably null
R6210:Itga3	UTSW	11	94,959,717 (GRCm39)	intron	probably benign
R6341:Itga3	UTSW	11	94,946,677 (GRCm39)	splice site	probably null
R6666:Itga3	UTSW	11	94,956,652 (GRCm39)	missense	probably benign	0.00
R6998:Itga3	UTSW	11	94,942,288 (GRCm39)	missense	probably benign	0.00
R7106:Itga3	UTSW	11	94,946,699 (GRCm39)	missense	probably benign	0.00
R7164:Itga3	UTSW	11	94,943,305 (GRCm39)	missense	possibly damaging	0.85
R7267:Itga3	UTSW	11	94,967,188 (GRCm39)	intron	probably benign
R7421:Itga3	UTSW	11	94,959,681 (GRCm39)	missense	probably benign	0.20
R7514:Itga3	UTSW	11	94,956,722 (GRCm39)	nonsense	probably null
R7533:Itga3	UTSW	11	94,937,344 (GRCm39)	missense	probably benign	0.45
R7736:Itga3	UTSW	11	94,967,029 (GRCm39)	missense	probably damaging	1.00
R8303:Itga3	UTSW	11	94,953,466 (GRCm39)	missense	probably benign	0.42
R8459:Itga3	UTSW	11	94,959,633 (GRCm39)	missense	probably benign
R8464:Itga3	UTSW	11	94,953,566 (GRCm39)	missense	probably benign	0.28
R8951:Itga3	UTSW	11	94,944,911 (GRCm39)	missense	probably damaging	0.99
R8984:Itga3	UTSW	11	94,953,391 (GRCm39)	missense	probably damaging	1.00
R9262:Itga3	UTSW	11	94,956,625 (GRCm39)	missense	probably benign	0.09
R9695:Itga3	UTSW	11	94,946,520 (GRCm39)	critical splice donor site	probably null
Z1177:Itga3	UTSW	11	94,947,600 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGTCACAGTAACAGACACAC -3'
(R):5'- TCCGAGAGTCCATCTTGCATG -3'

Sequencing Primer
(F):5'- CAACTGTGCAGAACATGATACC -3'
(R):5'- TCACTCCAGGCTGGGATGAAATC -3'

Posted On

2020-06-30