Incidental Mutation 'IGL02421:Pira12'
| ID |
292661 |
| 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: 0.049)
|
| Stock # |
IGL02421
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
3887241-3901119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3899994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 203
(N203D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070639]
|
| AlphaFold |
E9Q1Z6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070639
AA Change: N203D
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070073
Gene: ENSMUSG00000074417
AA Change: N203D
| 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 |
|---|
| a |
T |
C |
2: 154,892,672 (GRCm39) |
F117S |
probably damaging |
Het |
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Acacb |
A |
G |
5: 114,361,939 (GRCm39) |
T1394A |
probably benign |
Het |
| Adam19 |
A |
G |
11: 46,028,380 (GRCm39) |
N671S |
probably damaging |
Het |
| Akap13 |
A |
T |
7: 75,367,554 (GRCm39) |
N1815I |
possibly damaging |
Het |
| Aloxe3 |
A |
G |
11: 69,020,872 (GRCm39) |
D199G |
possibly damaging |
Het |
| Ap1g2 |
G |
A |
14: 55,339,859 (GRCm39) |
A440V |
probably damaging |
Het |
| Bmt2 |
G |
T |
6: 13,628,841 (GRCm39) |
Q281K |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,717,662 (GRCm39) |
F2243L |
probably damaging |
Het |
| Cenpb |
G |
A |
2: 131,021,601 (GRCm39) |
R66C |
probably damaging |
Het |
| Chl1 |
A |
T |
6: 103,694,541 (GRCm39) |
H1121L |
probably damaging |
Het |
| Cpb1 |
T |
C |
3: 20,306,148 (GRCm39) |
Y344C |
probably damaging |
Het |
| Cspg5 |
T |
A |
9: 110,076,460 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,150,637 (GRCm39) |
N374D |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,550,215 (GRCm39) |
V3368A |
possibly damaging |
Het |
| Eml4 |
T |
C |
17: 83,785,321 (GRCm39) |
S829P |
probably benign |
Het |
| Got2-ps1 |
T |
C |
5: 138,362,811 (GRCm39) |
|
noncoding transcript |
Het |
| Hal |
T |
C |
10: 93,339,335 (GRCm39) |
C475R |
probably damaging |
Het |
| Mapkbp1 |
C |
T |
2: 119,850,136 (GRCm39) |
P806S |
possibly damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,921,806 (GRCm39) |
T88S |
probably benign |
Het |
| Napsa |
A |
G |
7: 44,234,479 (GRCm39) |
H237R |
probably damaging |
Het |
| Opn5 |
C |
T |
17: 42,907,446 (GRCm39) |
|
probably benign |
Het |
| Or1d2 |
T |
C |
11: 74,256,017 (GRCm39) |
I174T |
probably damaging |
Het |
| Or4c110 |
T |
C |
2: 88,831,688 (GRCm39) |
|
probably null |
Het |
| Or51f2 |
T |
C |
7: 102,526,966 (GRCm39) |
I213T |
probably damaging |
Het |
| Or56b2 |
A |
G |
7: 104,337,740 (GRCm39) |
N173D |
probably benign |
Het |
| Polb |
C |
T |
8: 23,130,389 (GRCm39) |
G179D |
probably damaging |
Het |
| Primpol |
G |
T |
8: 47,060,830 (GRCm39) |
|
probably benign |
Het |
| Prom2 |
T |
A |
2: 127,373,802 (GRCm39) |
|
probably null |
Het |
| Psmb10 |
A |
G |
8: 106,664,124 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
T |
G |
10: 58,316,376 (GRCm39) |
S2365R |
probably damaging |
Het |
| Sgce |
G |
A |
6: 4,694,187 (GRCm39) |
|
probably benign |
Het |
| Slc25a34 |
A |
G |
4: 141,348,753 (GRCm39) |
V237A |
probably benign |
Het |
| Slc39a2 |
A |
T |
14: 52,131,329 (GRCm39) |
T25S |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,550,535 (GRCm39) |
C423R |
probably damaging |
Het |
| Stt3b |
G |
A |
9: 115,080,920 (GRCm39) |
|
probably benign |
Het |
| Tbl1xr1 |
A |
T |
3: 22,257,327 (GRCm39) |
I397F |
probably damaging |
Het |
| Tie1 |
A |
G |
4: 118,343,591 (GRCm39) |
V117A |
probably damaging |
Het |
| Tmc3 |
T |
C |
7: 83,271,952 (GRCm39) |
F1035L |
probably benign |
Het |
| Trhde |
T |
A |
10: 114,248,366 (GRCm39) |
K944N |
probably damaging |
Het |
| Vmn1r54 |
G |
A |
6: 90,246,133 (GRCm39) |
A16T |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,415,414 (GRCm39) |
N801K |
probably damaging |
Het |
| Xylt2 |
A |
G |
11: 94,558,588 (GRCm39) |
Y523H |
possibly damaging |
Het |
| Znfx1 |
T |
C |
2: 166,902,000 (GRCm39) |
R5G |
probably damaging |
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 |
|
|
IGL02544:Pira12
|
APN |
7 |
3,900,185 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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