Incidental Mutation 'R0652:Pira13'
ID |
62291 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pira13
|
Ensembl Gene |
ENSMUSG00000074419 |
Gene Name |
paired-Ig-like receptor A13 |
Synonyms |
Gm15448, ENSMUSG00000074419 |
MMRRC Submission |
038837-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R0652 (G1)
|
Quality Score |
99 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
3819780-3828686 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3825762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 369
(Y369F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104260
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094911]
[ENSMUST00000108619]
[ENSMUST00000108620]
[ENSMUST00000153846]
[ENSMUST00000189095]
|
AlphaFold |
F6PZL4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094911
AA Change: Y369F
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000092515 Gene: ENSMUSG00000074419 AA Change: Y369F
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 benign
Transcript: ENSMUST00000108619
AA Change: Y369F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000104259 Gene: ENSMUSG00000074419 AA Change: Y369F
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 benign
Transcript: ENSMUST00000108620
AA Change: Y369F
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000104260 Gene: ENSMUSG00000074419 AA Change: Y369F
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 benign
Transcript: ENSMUST00000153846
AA Change: Y369F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121707 Gene: ENSMUSG00000074419 AA Change: Y369F
Domain | Start | End | E-Value | Type |
IG
|
7 |
96 |
8.01e-3 |
SMART |
low complexity region
|
132 |
141 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189095
AA Change: Y369F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000140974 Gene: ENSMUSG00000074419 AA Change: Y369F
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: 99.3%
- 3x: 98.5%
- 10x: 96.3%
- 20x: 90.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,042,889 (GRCm39) |
N387D |
probably benign |
Het |
Adgrg5 |
T |
A |
8: 95,660,785 (GRCm39) |
|
probably null |
Het |
Ahi1 |
C |
A |
10: 20,855,360 (GRCm39) |
H556Q |
probably damaging |
Het |
Amph |
A |
G |
13: 19,270,791 (GRCm39) |
|
probably null |
Het |
Apol7a |
T |
C |
15: 77,274,055 (GRCm39) |
|
probably benign |
Het |
Apoo-ps |
A |
T |
13: 107,550,910 (GRCm39) |
|
noncoding transcript |
Het |
Arpc1b |
A |
G |
5: 145,063,670 (GRCm39) |
D306G |
probably damaging |
Het |
Astn2 |
T |
C |
4: 65,712,795 (GRCm39) |
D615G |
probably damaging |
Het |
Atm |
A |
G |
9: 53,397,314 (GRCm39) |
V1673A |
probably damaging |
Het |
B3gnt3 |
A |
T |
8: 72,146,466 (GRCm39) |
V21E |
probably benign |
Het |
Bco1 |
A |
G |
8: 117,832,435 (GRCm39) |
D77G |
probably damaging |
Het |
Brinp2 |
A |
T |
1: 158,074,191 (GRCm39) |
H643Q |
probably damaging |
Het |
Bsn |
A |
G |
9: 107,982,941 (GRCm39) |
F3604S |
unknown |
Het |
Cacna1c |
A |
G |
6: 118,579,190 (GRCm39) |
F1753L |
probably damaging |
Het |
Cd74 |
T |
C |
18: 60,944,957 (GRCm39) |
S201P |
probably damaging |
Het |
Cep192 |
T |
A |
18: 67,940,336 (GRCm39) |
L101Q |
probably benign |
Het |
Cfap161 |
T |
C |
7: 83,442,484 (GRCm39) |
I110V |
probably null |
Het |
Cnksr3 |
T |
C |
10: 7,070,463 (GRCm39) |
D257G |
probably damaging |
Het |
Col14a1 |
A |
C |
15: 55,208,278 (GRCm39) |
E121A |
unknown |
Het |
Cpne3 |
T |
C |
4: 19,532,486 (GRCm39) |
D309G |
probably benign |
Het |
Ctnnd1 |
A |
G |
2: 84,433,240 (GRCm39) |
I609T |
probably benign |
Het |
Cyp2s1 |
A |
G |
7: 25,508,683 (GRCm39) |
V253A |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,943,586 (GRCm39) |
D552G |
possibly damaging |
Het |
Dpyd |
A |
G |
3: 119,220,924 (GRCm39) |
D965G |
probably damaging |
Het |
Efcab2 |
T |
A |
1: 178,308,911 (GRCm39) |
M138K |
probably damaging |
Het |
Eml3 |
T |
C |
19: 8,910,649 (GRCm39) |
S204P |
probably damaging |
Het |
Fbxw16 |
T |
A |
9: 109,265,236 (GRCm39) |
S432C |
possibly damaging |
Het |
Fbxw20 |
T |
G |
9: 109,061,400 (GRCm39) |
Q116H |
probably damaging |
Het |
Fech |
A |
G |
18: 64,591,240 (GRCm39) |
S395P |
probably damaging |
Het |
Fgf7 |
A |
G |
2: 125,877,875 (GRCm39) |
K81E |
probably benign |
Het |
Fras1 |
T |
A |
5: 96,929,199 (GRCm39) |
Y3868N |
possibly damaging |
Het |
Ganab |
A |
T |
19: 8,892,766 (GRCm39) |
|
probably null |
Het |
Gfra1 |
T |
C |
19: 58,288,986 (GRCm39) |
N153S |
possibly damaging |
Het |
Gja4 |
T |
A |
4: 127,205,920 (GRCm39) |
Y281F |
probably benign |
Het |
Gm5141 |
T |
C |
13: 62,921,946 (GRCm39) |
T407A |
probably damaging |
Het |
Gm5422 |
T |
C |
10: 31,125,277 (GRCm39) |
|
noncoding transcript |
Het |
Greb1 |
T |
C |
12: 16,746,457 (GRCm39) |
Y1271C |
probably damaging |
Het |
Hp1bp3 |
C |
A |
4: 137,956,080 (GRCm39) |
N50K |
possibly damaging |
Het |
Hspg2 |
T |
C |
4: 137,242,033 (GRCm39) |
F589S |
probably damaging |
Het |
Ido1 |
A |
G |
8: 25,075,260 (GRCm39) |
F183S |
probably damaging |
Het |
Iqgap1 |
T |
A |
7: 80,386,143 (GRCm39) |
K936I |
probably damaging |
Het |
Kdm4a |
T |
C |
4: 118,032,886 (GRCm39) |
D60G |
probably benign |
Het |
L3mbtl4 |
G |
A |
17: 69,081,286 (GRCm39) |
C558Y |
probably damaging |
Het |
Lrrc28 |
T |
C |
7: 67,267,833 (GRCm39) |
N98S |
probably damaging |
Het |
Lypd11 |
T |
A |
7: 24,423,622 (GRCm39) |
N14I |
possibly damaging |
Het |
Map1a |
A |
G |
2: 121,133,264 (GRCm39) |
D1360G |
probably benign |
Het |
Megf10 |
C |
T |
18: 57,410,796 (GRCm39) |
P702S |
probably benign |
Het |
Met |
A |
G |
6: 17,491,709 (GRCm39) |
E157G |
probably benign |
Het |
Mff |
A |
G |
1: 82,728,285 (GRCm39) |
D187G |
possibly damaging |
Het |
Mlph |
A |
T |
1: 90,870,630 (GRCm39) |
I514F |
possibly damaging |
Het |
Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
Myo15b |
T |
C |
11: 115,755,468 (GRCm39) |
V976A |
probably benign |
Het |
Myo9a |
A |
G |
9: 59,779,209 (GRCm39) |
D1655G |
probably benign |
Het |
Ncoa6 |
C |
T |
2: 155,233,131 (GRCm39) |
G2059D |
probably benign |
Het |
Ndst4 |
A |
T |
3: 125,405,188 (GRCm39) |
H481L |
possibly damaging |
Het |
Nipbl |
A |
G |
15: 8,332,964 (GRCm39) |
S2220P |
probably benign |
Het |
Nom1 |
C |
A |
5: 29,640,309 (GRCm39) |
P212T |
probably damaging |
Het |
Nsd1 |
A |
G |
13: 55,395,399 (GRCm39) |
D1000G |
possibly damaging |
Het |
Nudt9 |
T |
C |
5: 104,198,467 (GRCm39) |
F44S |
possibly damaging |
Het |
Numb |
C |
T |
12: 83,842,566 (GRCm39) |
V537I |
probably damaging |
Het |
Or10j3b |
T |
A |
1: 173,043,524 (GRCm39) |
I102N |
possibly damaging |
Het |
Or13a27 |
A |
T |
7: 139,925,545 (GRCm39) |
M119K |
probably damaging |
Het |
Or51q1c |
A |
G |
7: 103,652,446 (GRCm39) |
|
probably null |
Het |
Or5b109 |
A |
T |
19: 13,211,899 (GRCm39) |
Y95F |
possibly damaging |
Het |
Or5h17 |
A |
G |
16: 58,820,063 (GRCm39) |
N5S |
probably damaging |
Het |
Or6c211 |
T |
A |
10: 129,506,248 (GRCm39) |
T47S |
probably benign |
Het |
Osgin1 |
A |
T |
8: 120,172,211 (GRCm39) |
Y335F |
probably damaging |
Het |
Pcdh10 |
T |
A |
3: 45,334,199 (GRCm39) |
V171E |
probably damaging |
Het |
Plxna4 |
T |
C |
6: 32,162,436 (GRCm39) |
N1359S |
probably damaging |
Het |
Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
Prr5l |
T |
C |
2: 101,602,635 (GRCm39) |
T2A |
possibly damaging |
Het |
Rbp3 |
T |
A |
14: 33,680,605 (GRCm39) |
I1069N |
possibly damaging |
Het |
Rnf144b |
A |
G |
13: 47,373,983 (GRCm39) |
Y60C |
probably damaging |
Het |
Sbno2 |
A |
T |
10: 79,903,128 (GRCm39) |
V396E |
probably damaging |
Het |
Sdk1 |
A |
G |
5: 141,940,713 (GRCm39) |
T494A |
probably benign |
Het |
Serac1 |
G |
T |
17: 6,102,031 (GRCm39) |
D384E |
probably damaging |
Het |
Sgk1 |
A |
G |
10: 21,758,556 (GRCm39) |
N7D |
probably damaging |
Het |
Sigirr |
A |
T |
7: 140,672,980 (GRCm39) |
V69D |
possibly damaging |
Het |
Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
St6gal2 |
T |
C |
17: 55,805,290 (GRCm39) |
Y396H |
probably benign |
Het |
Ttn |
A |
T |
2: 76,598,956 (GRCm39) |
F19319Y |
probably damaging |
Het |
Ubr4 |
T |
A |
4: 139,128,637 (GRCm39) |
I599N |
probably damaging |
Het |
Vmn1r213 |
A |
G |
13: 23,195,564 (GRCm39) |
|
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,817,830 (GRCm39) |
M469K |
probably benign |
Het |
Wasf1 |
T |
A |
10: 40,807,902 (GRCm39) |
|
probably null |
Het |
Wdr20rt |
T |
C |
12: 65,272,689 (GRCm39) |
S51P |
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 |
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 |
|
|
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'- AGAACACAGGCTCTCCATTTTGTCC -3'
(R):5'- AGATTTTCAACCCCAGGCTCTGC -3'
Sequencing Primer
(F):5'- CTTAGGGCCTCAGAAAATGTTTG -3'
(R):5'- GGACTATTCCTTCCCACAGAG -3'
|
Posted On |
2013-07-30 |