Incidental Mutation 'IGL02544:Pira12'
| ID |
297731 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pira12
|
| Ensembl Gene |
ENSMUSG00000074417 |
| Gene Name |
paired-Ig-like receptor A12 |
| Synonyms |
Gm14548 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL02544
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
3887241-3901119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3900185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 139
(Y139F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070639]
|
| AlphaFold |
E9Q1Z6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070639
AA Change: Y139F
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000070073
Gene: ENSMUSG00000074417
AA Change: Y139F
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
34 |
118 |
6.41e-2 |
SMART |
|
IG
|
129 |
315 |
8.59e-3 |
SMART |
|
IG_like
|
237 |
302 |
1.91e-1 |
SMART |
|
IG
|
328 |
415 |
3.36e0 |
SMART |
|
IG_like
|
435 |
502 |
3.11e0 |
SMART |
|
IG
|
529 |
618 |
8.59e-3 |
SMART |
|
low complexity region
|
627 |
636 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
663 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
C |
5: 77,049,961 (GRCm39) |
S12A |
probably benign |
Het |
| Abcb5 |
A |
T |
12: 118,870,003 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
G |
A |
4: 155,976,867 (GRCm39) |
E6K |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,488,594 (GRCm39) |
I946K |
possibly damaging |
Het |
| Arid1a |
A |
G |
4: 133,409,059 (GRCm39) |
V1816A |
unknown |
Het |
| Cacna1c |
C |
T |
6: 118,728,440 (GRCm39) |
G335R |
probably damaging |
Het |
| Ccnh |
C |
A |
13: 85,350,460 (GRCm39) |
Y118* |
probably null |
Het |
| Cep76 |
C |
T |
18: 67,768,020 (GRCm39) |
|
probably benign |
Het |
| Cyp2c65 |
T |
C |
19: 39,079,082 (GRCm39) |
V387A |
probably damaging |
Het |
| Dapk1 |
T |
G |
13: 60,899,031 (GRCm39) |
S834A |
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,449,402 (GRCm39) |
S367P |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,681,091 (GRCm39) |
I474T |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,876,069 (GRCm39) |
R2579H |
probably benign |
Het |
| Dnajc16 |
T |
C |
4: 141,491,958 (GRCm39) |
N622D |
probably damaging |
Het |
| Eif3c |
G |
T |
7: 126,146,784 (GRCm39) |
S799* |
probably null |
Het |
| Fbxo9 |
A |
G |
9: 77,994,541 (GRCm39) |
Y259H |
probably damaging |
Het |
| Fpr-rs4 |
A |
T |
17: 18,242,473 (GRCm39) |
H160L |
probably benign |
Het |
| Galc |
A |
T |
12: 98,197,701 (GRCm39) |
V336D |
probably benign |
Het |
| Matcap1 |
C |
T |
8: 106,010,092 (GRCm39) |
V286M |
probably benign |
Het |
| Mfrp |
T |
C |
9: 44,014,091 (GRCm39) |
L153P |
probably damaging |
Het |
| Mtx1 |
C |
A |
3: 89,117,703 (GRCm39) |
W30L |
probably damaging |
Het |
| Mysm1 |
A |
T |
4: 94,840,543 (GRCm39) |
D624E |
probably damaging |
Het |
| Naa16 |
A |
G |
14: 79,573,260 (GRCm39) |
F837L |
probably damaging |
Het |
| Or10ag56 |
C |
T |
2: 87,139,471 (GRCm39) |
R113C |
possibly damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,848 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or2ag1 |
T |
C |
7: 106,313,742 (GRCm39) |
I49V |
probably benign |
Het |
| Or5h25 |
A |
T |
16: 58,930,507 (GRCm39) |
H155Q |
probably damaging |
Het |
| Pde4d |
G |
T |
13: 109,877,057 (GRCm39) |
D137Y |
probably damaging |
Het |
| Pik3r1 |
G |
T |
13: 101,823,784 (GRCm39) |
R534S |
probably damaging |
Het |
| Plekha5 |
A |
C |
6: 140,535,454 (GRCm39) |
E239A |
possibly damaging |
Het |
| Psap |
G |
T |
10: 60,136,405 (GRCm39) |
|
probably benign |
Het |
| Rap2b |
T |
C |
3: 61,272,560 (GRCm39) |
F28S |
probably damaging |
Het |
| Rfc5 |
A |
T |
5: 117,524,931 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,815,024 (GRCm39) |
D175N |
probably benign |
Het |
| Sbno1 |
T |
G |
5: 124,542,046 (GRCm39) |
I370L |
probably damaging |
Het |
| Slc17a6 |
T |
A |
7: 51,315,903 (GRCm39) |
C390* |
probably null |
Het |
| Srsf7 |
A |
T |
17: 80,511,620 (GRCm39) |
|
probably benign |
Het |
| Tbc1d10c |
C |
T |
19: 4,237,959 (GRCm39) |
D272N |
probably benign |
Het |
| Tll2 |
A |
G |
19: 41,124,404 (GRCm39) |
F204L |
probably damaging |
Het |
| Tmc1 |
T |
A |
19: 20,884,327 (GRCm39) |
T38S |
probably benign |
Het |
| Tmem184b |
A |
T |
15: 79,250,007 (GRCm39) |
I256K |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,859,780 (GRCm39) |
R365W |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,142,429 (GRCm39) |
P1339S |
probably damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,317,293 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pira12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00541:Pira12
|
APN |
7 |
3,900,385 (GRCm39) |
splice site |
probably benign |
|
|
IGL01358:Pira12
|
APN |
7 |
3,898,686 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01868:Pira12
|
APN |
7 |
3,900,174 (GRCm39) |
nonsense |
probably null |
|
|
IGL02421:Pira12
|
APN |
7 |
3,899,994 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02960:Pira12
|
APN |
7 |
3,900,078 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02973:Pira12
|
APN |
7 |
3,900,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4495001:Pira12
|
UTSW |
7 |
3,900,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0761:Pira12
|
UTSW |
7 |
3,896,978 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1917:Pira12
|
UTSW |
7 |
3,900,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1920:Pira12
|
UTSW |
7 |
3,900,871 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2219:Pira12
|
UTSW |
7 |
3,900,488 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2220:Pira12
|
UTSW |
7 |
3,900,488 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4991:Pira12
|
UTSW |
7 |
3,898,571 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5271:Pira12
|
UTSW |
7 |
3,900,566 (GRCm39) |
nonsense |
probably null |
|
|
R5909:Pira12
|
UTSW |
7 |
3,900,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6008:Pira12
|
UTSW |
7 |
3,897,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6193:Pira12
|
UTSW |
7 |
3,901,049 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6218:Pira12
|
UTSW |
7 |
3,897,031 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6219:Pira12
|
UTSW |
7 |
3,897,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6650:Pira12
|
UTSW |
7 |
3,898,632 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6879:Pira12
|
UTSW |
7 |
3,899,961 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6987:Pira12
|
UTSW |
7 |
3,900,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7082:Pira12
|
UTSW |
7 |
3,898,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7087:Pira12
|
UTSW |
7 |
3,900,218 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7144:Pira12
|
UTSW |
7 |
3,900,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7298:Pira12
|
UTSW |
7 |
3,898,264 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7359:Pira12
|
UTSW |
7 |
3,901,103 (GRCm39) |
start gained |
probably benign |
|
|
R7751:Pira12
|
UTSW |
7 |
3,898,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7810:Pira12
|
UTSW |
7 |
3,897,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8344:Pira12
|
UTSW |
7 |
3,899,954 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8428:Pira12
|
UTSW |
7 |
3,898,257 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8875:Pira12
|
UTSW |
7 |
3,897,256 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8943:Pira12
|
UTSW |
7 |
3,898,365 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9045:Pira12
|
UTSW |
7 |
3,897,547 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9125:Pira12
|
UTSW |
7 |
3,900,021 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9129:Pira12
|
UTSW |
7 |
3,898,500 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9224:Pira12
|
UTSW |
7 |
3,900,234 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9427:Pira12
|
UTSW |
7 |
3,897,284 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9777:Pira12
|
UTSW |
7 |
3,897,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation