Incidental Mutation 'R4713:Pira13'
| ID |
353365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pira13
|
| Ensembl Gene |
ENSMUSG00000074419 |
| Gene Name |
paired-Ig-like receptor A13 |
| Synonyms |
Gm15448, ENSMUSG00000074419 |
| MMRRC Submission |
041601-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R4713 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3819780-3828686 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 3825680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 396
(Y396*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140974
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094911]
[ENSMUST00000108619]
[ENSMUST00000108620]
[ENSMUST00000153846]
[ENSMUST00000189095]
|
| AlphaFold |
F6PZL4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000094911
AA Change: Y396*
|
| SMART Domains |
Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419
AA Change: Y396*
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
40 |
105 |
3.26e0 |
SMART |
|
IG
|
129 |
315 |
1.37e-1 |
SMART |
|
IG_like
|
237 |
302 |
2.2e-1 |
SMART |
|
IG
|
328 |
415 |
6.31e-1 |
SMART |
|
IG
|
430 |
519 |
8.01e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108619
AA Change: Y396*
|
| SMART Domains |
Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: Y396*
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
40 |
105 |
3.26e0 |
SMART |
|
IG
|
129 |
315 |
1.37e-1 |
SMART |
|
IG_like
|
237 |
302 |
2.2e-1 |
SMART |
|
IG
|
328 |
415 |
6.31e-1 |
SMART |
|
IG_like
|
429 |
517 |
6.02e0 |
SMART |
|
IG
|
529 |
618 |
8.01e-3 |
SMART |
|
low complexity region
|
637 |
646 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108620
AA Change: Y396*
|
| SMART Domains |
Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419
AA Change: Y396*
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
40 |
105 |
3.26e0 |
SMART |
|
IG
|
129 |
315 |
1.37e-1 |
SMART |
|
IG_like
|
237 |
302 |
2.2e-1 |
SMART |
|
IG
|
328 |
415 |
6.31e-1 |
SMART |
|
IG
|
430 |
519 |
8.01e-3 |
SMART |
|
low complexity region
|
538 |
547 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153846
AA Change: Y396*
|
| SMART Domains |
Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: Y396*
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
7 |
96 |
8.01e-3 |
SMART |
|
low complexity region
|
132 |
141 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189095
AA Change: Y396*
|
| SMART Domains |
Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: Y396*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG_like
|
40 |
105 |
1.3e-2 |
SMART |
|
IG
|
129 |
315 |
5.7e-4 |
SMART |
|
IG_like
|
237 |
302 |
9e-4 |
SMART |
|
IG
|
328 |
415 |
2.6e-3 |
SMART |
|
IG_like
|
429 |
517 |
2.4e-2 |
SMART |
|
IG
|
529 |
618 |
3.3e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
G |
T |
1: 25,586,613 (GRCm39) |
T360K |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,508,449 (GRCm39) |
K356E |
probably benign |
Het |
| Bpifb2 |
T |
A |
2: 153,723,113 (GRCm39) |
V123E |
probably damaging |
Het |
| Cacna1a |
T |
G |
8: 85,276,143 (GRCm39) |
F532V |
probably damaging |
Het |
| Cct8 |
C |
A |
16: 87,284,576 (GRCm39) |
E204* |
probably null |
Het |
| Cd163 |
T |
A |
6: 124,294,577 (GRCm39) |
|
probably null |
Het |
| Cep152 |
C |
A |
2: 125,429,868 (GRCm39) |
A685S |
possibly damaging |
Het |
| Chdh |
A |
G |
14: 29,758,798 (GRCm39) |
D581G |
probably benign |
Het |
| Cnpy3 |
A |
C |
17: 47,058,391 (GRCm39) |
Y77* |
probably null |
Het |
| Col5a3 |
T |
C |
9: 20,704,870 (GRCm39) |
E762G |
unknown |
Het |
| Creb3 |
A |
G |
4: 43,563,247 (GRCm39) |
T115A |
probably benign |
Het |
| Dlat |
G |
T |
9: 50,555,781 (GRCm39) |
A412E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,367,514 (GRCm39) |
N1789S |
probably damaging |
Het |
| Dzank1 |
C |
T |
2: 144,333,724 (GRCm39) |
E370K |
probably benign |
Het |
| Eif3m |
A |
T |
2: 104,837,184 (GRCm39) |
|
probably null |
Het |
| Gimap8 |
A |
T |
6: 48,635,920 (GRCm39) |
M562L |
probably benign |
Het |
| Gprc6a |
T |
A |
10: 51,507,553 (GRCm39) |
|
probably benign |
Het |
| Gsr |
T |
G |
8: 34,170,347 (GRCm39) |
|
probably null |
Het |
| Gstcd |
A |
G |
3: 132,688,860 (GRCm39) |
V630A |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,128,043 (GRCm39) |
I116T |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,989,000 (GRCm39) |
E1817G |
probably damaging |
Het |
| Inpp5f |
A |
C |
7: 128,265,449 (GRCm39) |
T135P |
probably damaging |
Het |
| Ism2 |
A |
G |
12: 87,331,801 (GRCm39) |
|
silent |
Het |
| Itga11 |
A |
G |
9: 62,673,070 (GRCm39) |
D784G |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,298,456 (GRCm39) |
E10G |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,899,618 (GRCm39) |
K440* |
probably null |
Het |
| Lonp2 |
T |
C |
8: 87,439,943 (GRCm39) |
S648P |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,267,175 (GRCm39) |
S1622P |
probably benign |
Het |
| Lrp2 |
G |
T |
2: 69,318,310 (GRCm39) |
A2047D |
probably damaging |
Het |
| Mcm3 |
G |
A |
1: 20,873,801 (GRCm39) |
T773I |
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,297,198 (GRCm39) |
V2612A |
probably benign |
Het |
| Mnx1 |
C |
A |
5: 29,683,129 (GRCm39) |
G49W |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,402,816 (GRCm39) |
Y673* |
probably null |
Het |
| Myo15a |
A |
G |
11: 60,370,756 (GRCm39) |
H1172R |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,466,080 (GRCm39) |
K363R |
probably null |
Het |
| Ncoa4 |
T |
A |
14: 31,898,598 (GRCm39) |
C473S |
probably benign |
Het |
| Nefh |
T |
C |
11: 4,889,656 (GRCm39) |
T988A |
unknown |
Het |
| Nwd2 |
T |
A |
5: 63,961,803 (GRCm39) |
D462E |
probably benign |
Het |
| Or2av9 |
T |
C |
11: 58,380,913 (GRCm39) |
T223A |
probably benign |
Het |
| Plec |
T |
C |
15: 76,065,267 (GRCm39) |
E1466G |
unknown |
Het |
| Prl3d2 |
G |
T |
13: 27,306,379 (GRCm39) |
M35I |
probably benign |
Het |
| Reln |
T |
A |
5: 22,357,461 (GRCm39) |
I202F |
probably benign |
Het |
| Rhot1 |
T |
A |
11: 80,116,428 (GRCm39) |
D78E |
probably benign |
Het |
| Rsph3b |
T |
C |
17: 7,172,528 (GRCm39) |
|
probably null |
Het |
| Scn10a |
C |
T |
9: 119,438,717 (GRCm39) |
M1717I |
probably damaging |
Het |
| Sema6a |
T |
A |
18: 47,382,363 (GRCm39) |
H728L |
possibly damaging |
Het |
| Slc26a3 |
G |
T |
12: 31,507,079 (GRCm39) |
A345S |
possibly damaging |
Het |
| Slc35d2 |
A |
G |
13: 64,247,097 (GRCm39) |
V261A |
possibly damaging |
Het |
| Slc49a3 |
T |
C |
5: 108,589,945 (GRCm39) |
T486A |
probably damaging |
Het |
| Ssmem1 |
A |
G |
6: 30,519,513 (GRCm39) |
D66G |
probably damaging |
Het |
| Sult2a8 |
A |
T |
7: 14,159,402 (GRCm39) |
N72K |
probably benign |
Het |
| Tbx10 |
T |
C |
19: 4,046,921 (GRCm39) |
L108P |
probably damaging |
Het |
| Tex14 |
T |
C |
11: 87,427,691 (GRCm39) |
S48P |
probably damaging |
Het |
| Tmie |
A |
G |
9: 110,696,596 (GRCm39) |
L95P |
probably damaging |
Het |
| Tom1l2 |
C |
G |
11: 60,161,259 (GRCm39) |
R84P |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,866,799 (GRCm39) |
D543E |
possibly damaging |
Het |
| Vipr2 |
A |
C |
12: 116,043,751 (GRCm39) |
R49S |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,261,189 (GRCm39) |
S110C |
probably damaging |
Het |
| Zfp791 |
T |
A |
8: 85,837,597 (GRCm39) |
N89I |
probably damaging |
Het |
|
| Other mutations in Pira13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Pira13
|
APN |
7 |
3,826,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01675:Pira13
|
APN |
7 |
3,825,607 (GRCm39) |
splice site |
probably benign |
|
|
IGL02040:Pira13
|
APN |
7 |
3,824,516 (GRCm39) |
splice site |
probably benign |
|
|
IGL02547:Pira13
|
APN |
7 |
3,824,660 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02749:Pira13
|
APN |
7 |
3,825,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02822:Pira13
|
APN |
7 |
3,819,917 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02883:Pira13
|
APN |
7 |
3,825,179 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03140:Pira13
|
APN |
7 |
3,826,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03185:Pira13
|
APN |
7 |
3,826,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03212:Pira13
|
APN |
7 |
3,826,132 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0347:Pira13
|
UTSW |
7 |
3,825,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Pira13
|
UTSW |
7 |
3,825,762 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0668:Pira13
|
UTSW |
7 |
3,825,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0724:Pira13
|
UTSW |
7 |
3,819,871 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0735:Pira13
|
UTSW |
7 |
3,824,781 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1074:Pira13
|
UTSW |
7 |
3,826,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1339:Pira13
|
UTSW |
7 |
3,825,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1541:Pira13
|
UTSW |
7 |
3,819,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1570:Pira13
|
UTSW |
7 |
3,826,060 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1880:Pira13
|
UTSW |
7 |
3,827,950 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1892:Pira13
|
UTSW |
7 |
3,827,573 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1909:Pira13
|
UTSW |
7 |
3,825,918 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2881:Pira13
|
UTSW |
7 |
3,828,640 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R2967:Pira13
|
UTSW |
7 |
3,825,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2983:Pira13
|
UTSW |
7 |
3,824,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4213:Pira13
|
UTSW |
7 |
3,824,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4319:Pira13
|
UTSW |
7 |
3,825,754 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4320:Pira13
|
UTSW |
7 |
3,825,754 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4321:Pira13
|
UTSW |
7 |
3,825,754 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4322:Pira13
|
UTSW |
7 |
3,825,754 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4323:Pira13
|
UTSW |
7 |
3,825,754 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4536:Pira13
|
UTSW |
7 |
3,825,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4597:Pira13
|
UTSW |
7 |
3,825,154 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4725:Pira13
|
UTSW |
7 |
3,824,547 (GRCm39) |
missense |
probably benign |
|
|
R4934:Pira13
|
UTSW |
7 |
3,825,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4971:Pira13
|
UTSW |
7 |
3,825,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5138:Pira13
|
UTSW |
7 |
3,827,556 (GRCm39) |
nonsense |
probably null |
|
|
R5805:Pira13
|
UTSW |
7 |
3,825,622 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5824:Pira13
|
UTSW |
7 |
3,827,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5841:Pira13
|
UTSW |
7 |
3,825,898 (GRCm39) |
nonsense |
probably null |
|
|
R6027:Pira13
|
UTSW |
7 |
3,827,638 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6214:Pira13
|
UTSW |
7 |
3,824,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6329:Pira13
|
UTSW |
7 |
3,825,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6429:Pira13
|
UTSW |
7 |
3,825,345 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6650:Pira13
|
UTSW |
7 |
3,819,898 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6681:Pira13
|
UTSW |
7 |
3,825,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6961:Pira13
|
UTSW |
7 |
3,828,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6989:Pira13
|
UTSW |
7 |
3,825,163 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7025:Pira13
|
UTSW |
7 |
3,824,261 (GRCm39) |
nonsense |
probably null |
|
|
R7071:Pira13
|
UTSW |
7 |
3,824,667 (GRCm39) |
missense |
unknown |
|
|
R7194:Pira13
|
UTSW |
7 |
3,827,792 (GRCm39) |
missense |
|
|
|
R7215:Pira13
|
UTSW |
7 |
3,825,310 (GRCm39) |
missense |
unknown |
|
|
R7580:Pira13
|
UTSW |
7 |
3,827,611 (GRCm39) |
missense |
unknown |
|
|
R7776:Pira13
|
UTSW |
7 |
3,826,246 (GRCm39) |
missense |
unknown |
|
|
R7863:Pira13
|
UTSW |
7 |
3,827,801 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7909:Pira13
|
UTSW |
7 |
3,824,708 (GRCm39) |
missense |
unknown |
|
|
R8131:Pira13
|
UTSW |
7 |
3,825,161 (GRCm39) |
nonsense |
probably null |
|
|
R8178:Pira13
|
UTSW |
7 |
3,824,260 (GRCm39) |
missense |
unknown |
|
|
R8188:Pira13
|
UTSW |
7 |
3,826,126 (GRCm39) |
missense |
unknown |
|
|
R8220:Pira13
|
UTSW |
7 |
3,825,903 (GRCm39) |
missense |
unknown |
|
|
R8226:Pira13
|
UTSW |
7 |
3,828,109 (GRCm39) |
missense |
|
|
|
R8441:Pira13
|
UTSW |
7 |
3,826,301 (GRCm39) |
nonsense |
probably null |
|
|
R8739:Pira13
|
UTSW |
7 |
3,828,188 (GRCm39) |
missense |
|
|
|
R8785:Pira13
|
UTSW |
7 |
3,819,928 (GRCm39) |
missense |
unknown |
|
|
R8912:Pira13
|
UTSW |
7 |
3,825,818 (GRCm39) |
missense |
unknown |
|
|
R8941:Pira13
|
UTSW |
7 |
3,825,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8990:Pira13
|
UTSW |
7 |
3,824,273 (GRCm39) |
missense |
unknown |
|
|
R9049:Pira13
|
UTSW |
7 |
3,819,890 (GRCm39) |
missense |
unknown |
|
|
R9090:Pira13
|
UTSW |
7 |
3,819,997 (GRCm39) |
missense |
unknown |
|
|
R9134:Pira13
|
UTSW |
7 |
3,825,182 (GRCm39) |
missense |
|
|
|
R9136:Pira13
|
UTSW |
7 |
3,826,285 (GRCm39) |
missense |
|
|
|
R9244:Pira13
|
UTSW |
7 |
3,825,226 (GRCm39) |
missense |
unknown |
|
|
R9271:Pira13
|
UTSW |
7 |
3,819,997 (GRCm39) |
missense |
unknown |
|
|
R9328:Pira13
|
UTSW |
7 |
3,827,580 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACACAGGCTCTCCATTTTGTC -3'
(R):5'- AACTCAGACTGTCAGCACTG -3'
Sequencing Primer
(F):5'- GTCCTTCTCTACCTGCAACTCAG -3'
(R):5'- GAGGAAACATGACACTCCACTGTG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation