Mutagenetix > Incidental Mutation

Incidental Mutation 'R7267:Itga3'

565015

Institutional Source

Beutler Lab

Gene Symbol

Itga3

Ensembl Gene

ENSMUSG00000001507

Gene Name

integrin alpha 3

Synonyms

VLA-3 alpha 3, alpha3-integrin

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7267 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94935300-94967627 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 94967188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q62470

Predicted Effect

probably benign
Transcript: ENSMUST00000001548

SMART Domains

Protein: ENSMUSP00000001548
Gene: ENSMUSG00000001507

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 benign
Transcript: ENSMUST00000120375

SMART Domains

Protein: ENSMUSP00000113556
Gene: ENSMUSG00000001507

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145671

SMART Domains

Protein: ENSMUSP00000115970
Gene: ENSMUSG00000001507

Domain	Start	End	E-Value	Type
Blast:Int_alpha	6	52	3e-22	BLAST
SCOP:d1m1xa4	8	182	3e-24	SMART
PDB:4IRZ\|A	12	168	2e-8	PDB
Blast:Int_alpha	55	88	2e-6	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,916,205 (GRCm39)	I37T	probably damaging	Het
Ackr2	A	G	9: 121,737,874 (GRCm39)	Y83C	probably damaging	Het
Adam19	C	T	11: 46,012,403 (GRCm39)	Q300*	probably null	Het
Anxa7	C	T	14: 20,519,474 (GRCm39)	A115T	probably benign	Het
Aoc1l3	AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC	AGGCCCAGCC	6: 48,964,952 (GRCm39)		probably benign	Het
Atad2b	A	T	12: 5,077,105 (GRCm39)	R1109*	probably null	Het
Batf2	A	G	19: 6,221,396 (GRCm39)	T69A	probably benign	Het
Best1	A	G	19: 9,964,177 (GRCm39)	C428R	probably benign	Het
Birc6	A	G	17: 74,892,980 (GRCm39)	T973A	probably benign	Het
Bmp2k	C	T	5: 97,216,293 (GRCm39)	T597I	unknown	Het
Bmpr1a	G	A	14: 34,165,836 (GRCm39)	P57L	possibly damaging	Het
Camk2d	A	T	3: 126,591,379 (GRCm39)	H283L	possibly damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Ces1b	C	A	8: 93,806,132 (GRCm39)	K36N	possibly damaging	Het
Ces2a	T	A	8: 105,465,672 (GRCm39)	M308K	probably benign	Het
Ctnnd2	C	A	15: 30,683,501 (GRCm39)	Q501K	probably benign	Het
Cyb561d1	T	C	3: 108,106,629 (GRCm39)	T197A	probably benign	Het
Dedd2	C	A	7: 24,918,391 (GRCm39)	A55S	probably damaging	Het
Dnah2	C	T	11: 69,391,643 (GRCm39)	R684Q	probably damaging	Het
Elovl3	A	G	19: 46,122,979 (GRCm39)	Y185C	probably damaging	Het
Fgf3	C	T	7: 144,392,569 (GRCm39)	A42V	probably damaging	Het
Gabra5	A	G	7: 57,140,529 (GRCm39)	L56P	probably damaging	Het
Gm19410	T	G	8: 36,281,997 (GRCm39)	V1860G	possibly damaging	Het
Gm21663	G	T	5: 26,143,751 (GRCm39)	N190K	probably damaging	Het
Grm3	T	A	5: 9,639,581 (GRCm39)	I155L	probably benign	Het
Hadha	A	G	5: 30,327,755 (GRCm39)	I495T	probably damaging	Het
Herc4	C	T	10: 63,109,365 (GRCm39)	A200V	possibly damaging	Het
Krt6a	C	T	15: 101,602,289 (GRCm39)	S132N	probably benign	Het
Lpar1	T	C	4: 58,486,857 (GRCm39)	N138S	possibly damaging	Het
Lrrc42	T	A	4: 107,096,983 (GRCm39)	T247S	probably damaging	Het
Man2b1	T	A	8: 85,813,804 (GRCm39)	V256E	probably damaging	Het
Map3k4	G	T	17: 12,490,536 (GRCm39)	Y298*	probably null	Het
Mars1	A	G	10: 127,144,455 (GRCm39)	V195A	probably benign	Het
Mdm4	A	T	1: 132,922,311 (GRCm39)	V278E	probably benign	Het
Mdp1	A	G	14: 55,897,544 (GRCm39)	V37A	probably damaging	Het
Med13	A	G	11: 86,199,652 (GRCm39)	I685T	probably benign	Het
Mobp	A	G	9: 119,996,914 (GRCm39)	N15S	probably damaging	Het
Nbn	T	A	4: 15,979,320 (GRCm39)	M435K	probably benign	Het
Nfs1	A	G	2: 155,965,703 (GRCm39)	V126A	probably benign	Het
Npepl1	T	A	2: 173,963,909 (GRCm39)	V480E	probably damaging	Het
Nr2e3	G	A	9: 59,855,972 (GRCm39)	S155F	possibly damaging	Het
Oplah	T	C	15: 76,189,209 (GRCm39)	D278G	probably benign	Het
Or4c124	A	T	2: 89,156,157 (GRCm39)	Y122*	probably null	Het
Or51q1c	A	G	7: 103,653,046 (GRCm39)	H188R	probably benign	Het
Pard3	T	C	8: 128,098,056 (GRCm39)	Y366H	probably damaging	Het
Pcdhb11	A	G	18: 37,555,006 (GRCm39)	N112S	possibly damaging	Het
Pde11a	A	G	2: 76,168,189 (GRCm39)	S255P	probably damaging	Het
Piezo1	T	C	8: 123,224,268 (GRCm39)	H745R		Het
Pkn2	A	T	3: 142,517,776 (GRCm39)	S441T	possibly damaging	Het
Pld1	A	C	3: 28,130,550 (GRCm39)	H450P	probably damaging	Het
Plekhs1	T	A	19: 56,459,209 (GRCm39)	H22Q	probably damaging	Het
Prss44	A	C	9: 110,645,611 (GRCm39)	Y285S	probably damaging	Het
Qpctl	T	C	7: 18,878,852 (GRCm39)	E249G	probably benign	Het
Rcsd1	A	T	1: 165,491,185 (GRCm39)	S50T	probably damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scube1	T	A	15: 83,505,266 (GRCm39)	N496Y	probably damaging	Het
Skic3	A	G	13: 76,328,196 (GRCm39)	M1415V	probably benign	Het
Slc16a8	AGGCC	A	15: 79,136,125 (GRCm39)		probably null	Het
Slc38a4	T	A	15: 96,903,781 (GRCm39)	T407S	probably benign	Het
Slc51a	T	G	16: 32,298,590 (GRCm39)	I56L	probably benign	Het
Slc6a18	T	G	13: 73,819,755 (GRCm39)	I272L	probably damaging	Het
Sorl1	A	G	9: 42,035,375 (GRCm39)	L12P	possibly damaging	Het
Sycp2l	A	T	13: 41,300,070 (GRCm39)	D428V	possibly damaging	Het
Syne1	C	T	10: 5,178,218 (GRCm39)	R4752Q	probably damaging	Het
Tbc1d9	C	A	8: 83,997,957 (GRCm39)	H1171Q	probably damaging	Het
Thsd1	G	A	8: 22,733,597 (GRCm39)	V215I	probably benign	Het
Tmem143	T	A	7: 45,557,598 (GRCm39)	M208K	probably benign	Het
Tmem63b	C	T	17: 45,977,048 (GRCm39)	V440I	probably benign	Het
Tnik	A	T	3: 28,700,776 (GRCm39)	S918C	probably damaging	Het
Ttn	A	G	2: 76,733,751 (GRCm39)	I4508T	unknown	Het
Vav2	A	G	2: 27,173,334 (GRCm39)	F497L	probably damaging	Het
Zc3h14	G	A	12: 98,751,988 (GRCm39)	R730Q	probably damaging	Het
Zfp560	G	A	9: 20,259,384 (GRCm39)	H493Y	probably damaging	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
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
R8145:Itga3	UTSW	11	94,943,290 (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'- CTTACAGGTAGCGCTGTTGTC -3'
(R):5'- ACGGATTGGAAAAGCACCCG -3'

Sequencing Primer
(F):5'- TGTCGCTCAGTCTGCCGATG -3'
(R):5'- AAGCACCCGGAGCAGACG -3'

Posted On

2019-06-26