Incidental Mutation 'R8441:Pira13'
| ID |
654206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pira13
|
| Ensembl Gene |
ENSMUSG00000074419 |
| Gene Name |
paired-Ig-like receptor A13 |
| Synonyms |
Gm15448, ENSMUSG00000074419 |
| MMRRC Submission |
067885-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R8441 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3819780-3828686 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 3826301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 231
(E231*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094911]
[ENSMUST00000108619]
[ENSMUST00000108620]
[ENSMUST00000153846]
[ENSMUST00000189095]
|
| AlphaFold |
F6PZL4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000094911
AA Change: E231*
|
| SMART Domains |
Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419
AA Change: E231*
| 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: E231*
|
| SMART Domains |
Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: E231*
| 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: E231*
|
| SMART Domains |
Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419
AA Change: E231*
| 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: E231*
|
| SMART Domains |
Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: E231*
| 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: E231*
|
| SMART Domains |
Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: E231*
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,087,574 (GRCm39) |
Y1064H |
possibly damaging |
Het |
| Ahrr |
T |
C |
13: 74,362,182 (GRCm39) |
D567G |
probably benign |
Het |
| Aldh1b1 |
T |
A |
4: 45,802,465 (GRCm39) |
M1K |
probably null |
Het |
| Ankrd12 |
A |
T |
17: 66,349,546 (GRCm39) |
S96T |
probably benign |
Het |
| Arhgef10 |
A |
T |
8: 15,041,237 (GRCm39) |
|
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Cmpk2 |
G |
A |
12: 26,527,204 (GRCm39) |
A398T |
probably benign |
Het |
| Cpn2 |
A |
G |
16: 30,078,849 (GRCm39) |
L284P |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,432,658 (GRCm39) |
D1221G |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,572,398 (GRCm39) |
K957R |
probably damaging |
Het |
| Eif1ad2 |
T |
G |
12: 87,786,384 (GRCm39) |
D98E |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,896,488 (GRCm38) |
V893E |
probably benign |
Het |
| Flrt3 |
C |
A |
2: 140,502,546 (GRCm39) |
V361L |
probably benign |
Het |
| Fnta |
G |
A |
8: 26,501,209 (GRCm39) |
R104* |
probably null |
Het |
| Ggt1 |
C |
T |
10: 75,415,185 (GRCm39) |
T233I |
possibly damaging |
Het |
| Gpr37l1 |
A |
T |
1: 135,094,875 (GRCm39) |
V123E |
probably damaging |
Het |
| Grpel1 |
A |
G |
5: 36,622,556 (GRCm39) |
R7G |
probably benign |
Het |
| H2-M10.5 |
A |
T |
17: 37,084,199 (GRCm39) |
I54L |
probably benign |
Het |
| Mapk8ip3 |
A |
T |
17: 25,139,474 (GRCm39) |
|
probably benign |
Het |
| Mcm3 |
T |
C |
1: 20,884,690 (GRCm39) |
D271G |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,422,265 (GRCm39) |
V1256A |
possibly damaging |
Het |
| Nipbl |
A |
G |
15: 8,322,599 (GRCm39) |
V2604A |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,073,204 (GRCm39) |
D213V |
probably damaging |
Het |
| Npbwr1 |
G |
A |
1: 5,987,397 (GRCm39) |
A39V |
possibly damaging |
Het |
| Nr6a1 |
T |
C |
2: 38,632,888 (GRCm39) |
D191G |
probably benign |
Het |
| Olfml1 |
T |
G |
7: 107,166,977 (GRCm39) |
V2G |
probably benign |
Het |
| Or4k38 |
A |
T |
2: 111,166,131 (GRCm39) |
Y97* |
probably null |
Het |
| Or5b105 |
T |
A |
19: 13,080,020 (GRCm39) |
Y216F |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,538,200 (GRCm39) |
K1175E |
probably damaging |
Het |
| Plekhg2 |
C |
T |
7: 28,060,291 (GRCm39) |
V989I |
probably benign |
Het |
| Prkcq |
A |
G |
2: 11,253,037 (GRCm39) |
D229G |
probably benign |
Het |
| Ptprf |
A |
T |
4: 118,075,255 (GRCm39) |
|
probably benign |
Het |
| Rest |
G |
T |
5: 77,429,766 (GRCm39) |
Q728H |
possibly damaging |
Het |
| Scube1 |
A |
T |
15: 83,494,423 (GRCm39) |
I868N |
probably damaging |
Het |
| Spcs3 |
A |
G |
8: 54,981,375 (GRCm39) |
|
probably null |
Het |
| Speg |
A |
G |
1: 75,387,976 (GRCm39) |
S1445G |
possibly damaging |
Het |
| Spmap2 |
C |
A |
10: 79,412,510 (GRCm39) |
R327L |
probably damaging |
Het |
| Tmem145 |
T |
C |
7: 25,008,200 (GRCm39) |
F261S |
possibly damaging |
Het |
| Trav9d-4 |
A |
G |
14: 53,221,284 (GRCm39) |
S93G |
probably benign |
Het |
| Trbv5 |
T |
A |
6: 41,039,517 (GRCm39) |
C41S |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 142,626,171 (GRCm39) |
S1131P |
possibly damaging |
Het |
| Ttc28 |
C |
T |
5: 111,325,507 (GRCm39) |
R313* |
probably null |
Het |
| Ubap2l |
T |
C |
3: 89,920,007 (GRCm39) |
T853A |
unknown |
Het |
| Xirp2 |
T |
C |
2: 67,343,159 (GRCm39) |
V1800A |
possibly damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,303,985 (GRCm39) |
L1333P |
possibly 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 |
|
R4713:Pira13
|
UTSW |
7 |
3,825,680 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
|
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'- GCTGAGCTGTAACAATAACAGC -3'
(R):5'- GGGAGGACTGTGTCATATCAG -3'
Sequencing Primer
(F):5'- TAACAGCGATATTGCCCTGCATG -3'
(R):5'- CTGTGTCATATCAGGAAAGAGGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation