Incidental Mutation 'PIT4508001:Itga3'
| ID |
556236 |
| 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)
|
| Stock # |
PIT4508001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94935300-94967627 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94946719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 730
(H730R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001548]
[ENSMUST00000107739]
[ENSMUST00000120375]
|
| AlphaFold |
Q62470 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001548
AA Change: H730R
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000001548
Gene: ENSMUSG00000001507
AA Change: H730R
| 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: H699R
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103368
Gene: ENSMUSG00000001507
AA Change: H699R
| 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: H730R
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113556
Gene: ENSMUSG00000001507
AA Change: H730R
| 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 |
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 90.7%
- 10x: 84.6%
- 20x: 71.6%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
C |
16: 20,176,128 (GRCm39) |
T1228A |
probably damaging |
Het |
| Actg2 |
A |
T |
6: 83,489,989 (GRCm39) |
I370N |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,557,137 (GRCm39) |
T330A |
possibly damaging |
Het |
| Atrip |
C |
T |
9: 108,903,057 (GRCm39) |
A6T |
possibly damaging |
Het |
| Bms1 |
G |
A |
6: 118,360,767 (GRCm39) |
R1234C |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,989,230 (GRCm39) |
T487S |
probably benign |
Het |
| Cert1 |
T |
C |
13: 96,767,284 (GRCm39) |
F478S |
probably damaging |
Het |
| Esco2 |
A |
T |
14: 66,068,914 (GRCm39) |
V132E |
probably damaging |
Het |
| Gjb5 |
A |
T |
4: 127,250,033 (GRCm39) |
L37Q |
probably damaging |
Het |
| Gm8020 |
T |
A |
14: 42,324,234 (GRCm39) |
Y24F |
|
Het |
| H2bc8 |
CTCGACCATCACGTC |
CTC |
13: 23,755,867 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
T |
C |
17: 35,644,796 (GRCm39) |
L195P |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,874,816 (GRCm39) |
T1602A |
probably damaging |
Het |
| Hcrtr2 |
A |
T |
9: 76,153,662 (GRCm39) |
Y243* |
probably null |
Het |
| Kif1a |
A |
T |
1: 92,974,451 (GRCm39) |
L866Q |
probably damaging |
Het |
| Krt81 |
A |
T |
15: 101,360,606 (GRCm39) |
L127Q |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,719,223 (GRCm39) |
I2262T |
probably damaging |
Het |
| Mxd3 |
A |
T |
13: 55,473,707 (GRCm39) |
D170E |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,076,331 (GRCm39) |
M811V |
probably benign |
Het |
| Naa16 |
A |
T |
14: 79,606,527 (GRCm39) |
D335E |
probably benign |
Het |
| Nkd1 |
A |
G |
8: 89,249,028 (GRCm39) |
T58A |
probably benign |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,351 (GRCm39) |
R292* |
probably null |
Het |
| Or52e2 |
T |
A |
7: 102,804,520 (GRCm39) |
M145L |
probably benign |
Het |
| Or5w13 |
G |
A |
2: 87,524,059 (GRCm39) |
H56Y |
probably damaging |
Het |
| Pom121l12 |
A |
G |
11: 14,549,689 (GRCm39) |
R132G |
possibly damaging |
Het |
| Prss46 |
A |
G |
9: 110,680,484 (GRCm39) |
K210E |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,927,573 (GRCm39) |
Y1351H |
probably damaging |
Het |
| Shisa9 |
G |
A |
16: 12,085,344 (GRCm39) |
V318I |
probably benign |
Het |
| Slc41a2 |
T |
G |
10: 83,090,744 (GRCm39) |
H480P |
probably damaging |
Het |
| Slc45a1 |
C |
A |
4: 150,722,892 (GRCm39) |
A331S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,784,764 (GRCm39) |
F885I |
unknown |
Het |
| Speer4f1 |
T |
C |
5: 17,685,412 (GRCm39) |
S236P |
unknown |
Het |
| Zfp326 |
A |
T |
5: 106,062,556 (GRCm39) |
Q475L |
probably benign |
Het |
| Zzef1 |
T |
G |
11: 72,786,002 (GRCm39) |
V2058G |
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 |
|
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 |
|
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'- CCTGCAAAGTCAGGAGTACG -3'
(R):5'- ATCTGATGTACCATCCTAACTTACC -3'
Sequencing Primer
(F):5'- AGTACGGGCTGCAAGTTGTCC -3'
(R):5'- TGCAACGATGTCCAGTGATC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation