Mutagenetix > Incidental Mutation

Incidental Mutation 'R6046:Itga3'

483312

Institutional Source

Beutler Lab

Gene Symbol

Itga3

Ensembl Gene

ENSMUSG00000001507

Gene Name

integrin alpha 3

Synonyms

VLA-3 alpha 3, alpha3-integrin

MMRRC Submission

044214-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6046 (G1)

Quality Score

200.009

Status

Validated

Chromosome

Chromosomal Location

94935300-94967627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94953541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 236 (I236T)

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: I267T

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000001548
Gene: ENSMUSG00000001507
AA Change: I267T

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: ENSMUST00000107739
AA Change: I236T

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103368
Gene: ENSMUSG00000001507
AA Change: I236T

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: I267T

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113556
Gene: ENSMUSG00000001507
AA Change: I267T

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (78/78)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	T	C	10: 85,223,947 (GRCm39)	V252A	unknown	Het
Actn4	T	C	7: 28,604,044 (GRCm39)	I406V	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Ank1	T	A	8: 23,606,114 (GRCm39)	F1124I	probably damaging	Het
Arhgap44	CTGCT	CTGCTTGCT	11: 64,922,910 (GRCm39)		probably null	Het
Atp9a	C	A	2: 168,476,790 (GRCm39)	V1000L	probably benign	Het
Bnip3	A	G	7: 138,511,033 (GRCm39)		probably benign	Het
Btnl6	T	A	17: 34,727,371 (GRCm39)	R386S	probably damaging	Het
Calcrl	A	G	2: 84,205,658 (GRCm39)	V11A	probably benign	Het
Cc2d1a	G	T	8: 84,863,571 (GRCm39)	A597D	possibly damaging	Het
Celsr3	A	G	9: 108,714,350 (GRCm39)	T1960A	probably benign	Het
Cfb	T	A	17: 35,081,078 (GRCm39)		probably null	Het
Chd8	A	G	14: 52,458,528 (GRCm39)	I860T	possibly damaging	Het
Col28a1	A	G	6: 8,168,102 (GRCm39)		probably null	Het
Crhr2	T	A	6: 55,068,277 (GRCm39)	T428S	probably damaging	Het
Crybg2	A	T	4: 133,819,388 (GRCm39)	I1753F	probably damaging	Het
Ctsq	A	T	13: 61,186,955 (GRCm39)	V46E	probably benign	Het
Cxcr1	T	C	1: 74,231,440 (GRCm39)	E194G	probably damaging	Het
Dop1a	A	T	9: 86,397,396 (GRCm39)	H900L	probably damaging	Het
Dpyd	T	A	3: 119,225,224 (GRCm39)	M999K	probably benign	Het
Gbp3	A	C	3: 142,273,560 (GRCm39)	D369A	possibly damaging	Het
Glmp	A	G	3: 88,232,495 (GRCm39)	E36G	probably damaging	Het
Gm10113	T	C	13: 46,330,919 (GRCm39)		noncoding transcript	Het
Gm6486	T	A	5: 3,120,846 (GRCm39)		noncoding transcript	Het
Gm973	T	G	1: 59,671,509 (GRCm39)	L891R	unknown	Het
Heatr3	C	T	8: 88,866,582 (GRCm39)	T8M	probably damaging	Het
Herc1	A	G	9: 66,352,831 (GRCm39)	M2106V	probably damaging	Het
Hfm1	A	T	5: 107,046,509 (GRCm39)		probably null	Het
Hspa14	A	G	2: 3,490,801 (GRCm39)	V462A	possibly damaging	Het
Hspa5	C	A	2: 34,665,761 (GRCm39)	T535K	possibly damaging	Het
Ift140	A	G	17: 25,274,563 (GRCm39)	D745G	probably benign	Het
Ift27	A	T	15: 78,057,981 (GRCm39)	C8S	possibly damaging	Het
Irak1bp1	G	A	9: 82,728,616 (GRCm39)	W182*	probably null	Het
Kctd15	T	A	7: 34,349,547 (GRCm39)	N26Y	possibly damaging	Het
Kdm1b	T	C	13: 47,232,729 (GRCm39)	V733A	possibly damaging	Het
Lhx8	A	T	3: 154,027,340 (GRCm39)	L234H	probably damaging	Het
Lrp2	T	A	2: 69,337,098 (GRCm39)	T1225S	probably damaging	Het
Lrrn1	G	A	6: 107,545,488 (GRCm39)	D429N	probably benign	Het
Mettl3	A	T	14: 52,536,243 (GRCm39)	N200K	possibly damaging	Het
Mixl1	G	T	1: 180,524,336 (GRCm39)	A81D	possibly damaging	Het
Mroh2b	T	C	15: 4,980,763 (GRCm39)	I1444T	probably benign	Het
Muc15	T	A	2: 110,561,786 (GRCm39)	L74*	probably null	Het
Olfm2	T	A	9: 20,579,824 (GRCm39)	Y317F	probably damaging	Het
Or52a33	C	T	7: 103,288,886 (GRCm39)	V154M	probably benign	Het
Or5b114-ps1	G	A	19: 13,352,698 (GRCm39)	S124N	probably benign	Het
Or5p54	T	A	7: 107,554,001 (GRCm39)	I51N	probably benign	Het
Pclo	A	T	5: 14,763,302 (GRCm39)	Y3925F	unknown	Het
Pik3c2g	A	T	6: 139,599,137 (GRCm39)	R84S	probably damaging	Het
Pik3c2g	A	G	6: 139,842,518 (GRCm39)	Q449R	probably damaging	Het
Psg28	T	C	7: 18,160,305 (GRCm39)	E297G	probably damaging	Het
Qrich2	A	T	11: 116,337,832 (GRCm39)		probably benign	Het
Rgs9	A	G	11: 109,130,386 (GRCm39)	I363T	probably damaging	Het
Rnpepl1	A	G	1: 92,844,543 (GRCm39)	D345G	probably damaging	Het
Rtn4	T	A	11: 29,658,023 (GRCm39)	F726I	probably damaging	Het
Sart3	A	T	5: 113,893,507 (GRCm39)	I330N	probably damaging	Het
Scn5a	T	C	9: 119,391,440 (GRCm39)	D84G	probably damaging	Het
Sema4a	T	C	3: 88,348,008 (GRCm39)	T438A	probably damaging	Het
Sfxn1	A	C	13: 54,242,961 (GRCm39)	Y73S	probably benign	Het
Slc24a2	A	G	4: 86,914,882 (GRCm39)	M585T	probably damaging	Het
Slc26a7	A	G	4: 14,505,471 (GRCm39)	V656A	probably benign	Het
Smok2a	T	G	17: 13,445,021 (GRCm39)	D199E	probably benign	Het
Tbc1d10c	T	C	19: 4,235,030 (GRCm39)	I344V	probably benign	Het
Tll1	A	T	8: 64,506,925 (GRCm39)	Y605*	probably null	Het
Trim75	G	A	8: 65,435,535 (GRCm39)	P305L	probably damaging	Het
Unc13c	T	C	9: 73,838,166 (GRCm39)	N895S	probably benign	Het
Vmn2r25	A	T	6: 123,799,876 (GRCm39)	I822N	probably damaging	Het
Wasf3	T	G	5: 146,407,166 (GRCm39)	D495E	unknown	Het
Wdhd1	T	A	14: 47,510,667 (GRCm39)	K119*	probably null	Het
Wnt2b	T	A	3: 104,858,339 (GRCm39)	D310V	probably damaging	Het
Zfat	G	T	15: 68,052,626 (GRCm39)	D389E	probably damaging	Het
Zfp282	G	A	6: 47,857,102 (GRCm39)	V112M	probably damaging	Het
Zfp617	A	T	8: 72,687,257 (GRCm39)	K529I	probably damaging	Het
Zfp866	A	T	8: 70,218,373 (GRCm39)	C416S	probably damaging	Het
Zfp991	G	A	4: 147,264,222 (GRCm39)	G533D	probably benign	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
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'- GATTCTCACCCATCATTGTTCAGG -3'
(R):5'- TTCGGACGCAAAGTTCCATC -3'

Sequencing Primer
(F):5'- CATCATTGTTCAGGTCTGCCAGG -3'
(R):5'- GGGCTTTGATTGAACACTC -3'

Posted On

2017-07-14