Mutagenetix > Incidental Mutation

Incidental Mutation 'R4863:Itga3'

374682

Institutional Source

Beutler Lab

Gene Symbol

Itga3

Ensembl Gene

ENSMUSG00000001507

Gene Name

integrin alpha 3

Synonyms

VLA-3 alpha 3, alpha3-integrin

MMRRC Submission

042473-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4863 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94935300-94967627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94952793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 326 (Q326L)

Ref Sequence

ENSEMBL: ENSMUSP00000103368 (fasta)

Gene Model

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

AlphaFold

Q62470

Predicted Effect

probably benign
Transcript: ENSMUST00000001548
AA Change: Q357L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000001548
Gene: ENSMUSG00000001507
AA Change: Q357L

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: Q326L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103368
Gene: ENSMUSG00000001507
AA Change: Q326L

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 benign
Transcript: ENSMUST00000120375
AA Change: Q357L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113556
Gene: ENSMUSG00000001507
AA Change: Q357L

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

noncoding transcript
Transcript: ENSMUST00000140342

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (105/106)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Abcc12	T	A	8: 87,265,005 (GRCm39)	I647F	probably damaging	Het
Acnat2	C	A	4: 49,380,172 (GRCm39)	W384L	probably damaging	Het
Acvr1	A	G	2: 58,367,723 (GRCm39)	L146P	possibly damaging	Het
Ankrd16	T	A	2: 11,789,127 (GRCm39)	M238K	probably benign	Het
Clmn	A	T	12: 104,763,353 (GRCm39)	I91N	probably damaging	Het
Cog8	A	T	8: 107,776,806 (GRCm39)	L523H	probably damaging	Het
Cpxm2	T	A	7: 131,661,476 (GRCm39)	K437M	probably benign	Het
Dhx57	A	T	17: 80,560,540 (GRCm39)	V999E	probably damaging	Het
Dnpep	T	C	1: 75,285,874 (GRCm39)		probably benign	Het
Dok3	G	A	13: 55,671,270 (GRCm39)	R434W	probably damaging	Het
Dpysl5	C	T	5: 30,941,687 (GRCm39)	H275Y	probably benign	Het
Ednra	A	T	8: 78,394,012 (GRCm39)	N361K	probably damaging	Het
Ei24	A	T	9: 36,695,861 (GRCm39)	S210R	probably damaging	Het
Erich3	T	A	3: 154,470,441 (GRCm39)	V158E	unknown	Het
Fam193a	T	A	5: 34,623,549 (GRCm39)	V1379E	possibly damaging	Het
Fasn	A	G	11: 120,699,654 (GRCm39)	V2304A	probably damaging	Het
Fcgbp	A	C	7: 27,785,769 (GRCm39)	D402A	probably benign	Het
Fkbp14	T	C	6: 54,562,930 (GRCm39)		probably benign	Het
Fnip1	G	A	11: 54,406,382 (GRCm39)	V1160I	possibly damaging	Het
Fsd2	T	C	7: 81,202,712 (GRCm39)	K289R	probably null	Het
Fuca2	A	T	10: 13,381,651 (GRCm39)	D188V	probably damaging	Het
Gfpt2	T	C	11: 49,701,797 (GRCm39)	V116A	probably benign	Het
Gm10770	T	A	2: 150,020,816 (GRCm39)	K234*	probably null	Het
Gm9887	A	G	12: 69,418,763 (GRCm39)		probably benign	Het
Gtf3c2	A	G	5: 31,316,577 (GRCm39)		probably benign	Het
H2-M10.3	T	C	17: 36,677,528 (GRCm39)	D250G	probably damaging	Het
Hapln4	G	A	8: 70,537,142 (GRCm39)	V26M	possibly damaging	Het
Hook3	G	A	8: 26,528,057 (GRCm39)	A611V	probably damaging	Het
Hr	T	C	14: 70,809,412 (GRCm39)	L1141P	probably damaging	Het
Ifngr1	T	C	10: 19,485,164 (GRCm39)	S388P	probably damaging	Het
Itgb3	T	A	11: 104,556,346 (GRCm39)	I729N	probably damaging	Het
Kcnab2	A	G	4: 152,486,403 (GRCm39)	S132P	probably damaging	Het
Lama3	C	T	18: 12,672,850 (GRCm39)	A2481V	probably damaging	Het
Lama3	T	C	18: 12,631,735 (GRCm39)		probably benign	Het
Lce1e	A	T	3: 92,615,178 (GRCm39)	C56*	probably null	Het
Lmcd1	T	C	6: 112,264,832 (GRCm39)		probably benign	Het
Lrrc14	T	A	15: 76,597,562 (GRCm39)		probably null	Het
Lypd8l	A	T	11: 58,503,338 (GRCm39)		probably null	Het
Map4k5	G	A	12: 69,865,212 (GRCm39)	P591L	probably benign	Het
Mapk13	C	A	17: 28,995,284 (GRCm39)	D168E	probably damaging	Het
Marf1	A	C	16: 13,950,529 (GRCm39)	H952Q	possibly damaging	Het
Megf6	T	C	4: 154,338,738 (GRCm39)		probably null	Het
Mical3	T	C	6: 121,010,748 (GRCm39)	I411M	probably damaging	Het
Myo5a	A	T	9: 75,124,789 (GRCm39)	K1781N	probably damaging	Het
N4bp2	T	C	5: 65,965,473 (GRCm39)	V1174A	probably benign	Het
Ncdn	A	T	4: 126,644,216 (GRCm39)	L202Q	probably damaging	Het
Ncor1	T	A	11: 62,283,464 (GRCm39)	M408L	possibly damaging	Het
Nf1	T	C	11: 79,300,235 (GRCm39)	L249P	probably damaging	Het
Nlrp9b	T	A	7: 19,783,521 (GRCm39)		probably null	Het
Nxpe3	A	T	16: 55,669,996 (GRCm39)	Y370N	probably damaging	Het
P2rx2	T	A	5: 110,489,434 (GRCm39)	T167S	probably benign	Het
Pcdhb19	G	T	18: 37,632,161 (GRCm39)	R652L	probably benign	Het
Pcdhga12	T	C	18: 37,901,334 (GRCm39)	L722P	probably benign	Het
Pde6a	A	T	18: 61,378,663 (GRCm39)	I329F	probably damaging	Het
Pdpr	T	A	8: 111,828,583 (GRCm39)	S29T	probably benign	Het
Pfkfb3	T	C	2: 11,491,123 (GRCm39)	D173G	probably benign	Het
Plcd4	A	G	1: 74,604,961 (GRCm39)		probably null	Het
Polr1g	T	A	7: 19,091,684 (GRCm39)	Q141L	probably damaging	Het
Pou2f2	A	G	7: 24,796,533 (GRCm39)		probably benign	Het
Ppp1r14c	TGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGG	10: 3,316,702 (GRCm39)		probably benign	Het
Ppp1r42	T	C	1: 10,073,611 (GRCm39)		probably benign	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rab12	A	T	17: 66,805,103 (GRCm39)	Y142N	probably damaging	Het
Rai14	A	C	15: 10,572,556 (GRCm39)	M857R	probably damaging	Het
Ranbp2	A	G	10: 58,328,243 (GRCm39)	K2753R	probably damaging	Het
Rasa4	A	T	5: 136,132,765 (GRCm39)	K6*	probably null	Het
Rasgef1a	A	G	6: 118,066,100 (GRCm39)	M438V	probably benign	Het
Recql	T	G	6: 142,304,732 (GRCm39)		probably benign	Het
Rftn2	A	G	1: 55,211,198 (GRCm39)	V425A	probably benign	Het
Ror1	A	G	4: 100,267,001 (GRCm39)	Y234C	probably damaging	Het
Sap30l	T	A	11: 57,696,880 (GRCm39)	L70Q	probably damaging	Het
Scn4a	T	C	11: 106,210,828 (GRCm39)	R1730G	probably damaging	Het
Serinc5	T	G	13: 92,827,488 (GRCm39)	I268R	probably damaging	Het
Sin3b	G	A	8: 73,471,576 (GRCm39)	V432I	possibly damaging	Het
Slc30a6	T	C	17: 74,719,649 (GRCm39)	M203T	possibly damaging	Het
Soat1	T	C	1: 156,259,898 (GRCm39)	N481S	probably damaging	Het
Sos2	G	A	12: 69,686,928 (GRCm39)	T206I	probably benign	Het
Sp100	G	T	1: 85,632,724 (GRCm39)	A132S	probably benign	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
Spata31d1c	T	A	13: 65,183,604 (GRCm39)	L382*	probably null	Het
Stard9	T	A	2: 120,531,341 (GRCm39)	W2533R	probably benign	Het
Tas2r126	A	G	6: 42,412,324 (GRCm39)	T286A	probably benign	Het
Tedc2	T	A	17: 24,436,910 (GRCm39)	K275M	probably damaging	Het
Ten1	A	T	11: 116,109,057 (GRCm39)	K242N	probably benign	Het
Thoc2l	A	T	5: 104,665,616 (GRCm39)	D46V	possibly damaging	Het
Tial1	C	T	7: 128,056,752 (GRCm39)	V1I	probably damaging	Het
Tle2	G	A	10: 81,424,725 (GRCm39)	R649H	possibly damaging	Het
Tmem178	A	G	17: 81,252,374 (GRCm39)	D86G	probably benign	Het
Trim29	T	A	9: 43,240,872 (GRCm39)	D528E	possibly damaging	Het
Vmn2r61	A	T	7: 41,950,132 (GRCm39)	T851S	probably benign	Het
Vmn2r72	T	A	7: 85,399,806 (GRCm39)	Q414H	possibly damaging	Het
Yars1	A	T	4: 129,083,675 (GRCm39)		probably benign	Het
Yipf4	A	G	17: 74,801,087 (GRCm39)	Q135R	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp426	T	C	9: 20,381,334 (GRCm39)	Y536C	probably damaging	Het
Zp2	T	G	7: 119,734,995 (GRCm39)	Y430S	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
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
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'- GTTACGACTTTGAGCTGCGAG -3'
(R):5'- GACCTGCCGTTTGCTTAATTGC -3'

Sequencing Primer
(F):5'- AGTCCTGTCAAGCTATGCAG -3'
(R):5'- CCCTTGGCAAAATCATGCTCATTAG -3'

Posted On

2016-03-17