Incidental Mutation 'R6650:Pira13'
ID |
527739 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pira13
|
Ensembl Gene |
ENSMUSG00000074419 |
Gene Name |
paired-Ig-like receptor A13 |
Synonyms |
Gm15448, ENSMUSG00000074419 |
MMRRC Submission |
044771-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R6650 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
3819780-3828686 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3819898 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 555
(H555L)
|
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
|
SMART Domains |
Protein: ENSMUSP00000092515 Gene: ENSMUSG00000074419
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 |
unknown
Transcript: ENSMUST00000108619
AA Change: H656L
|
SMART Domains |
Protein: ENSMUSP00000104259 Gene: ENSMUSG00000074419 AA Change: H656L
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 |
possibly damaging
Transcript: ENSMUST00000108620
AA Change: H555L
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104260 Gene: ENSMUSG00000074419 AA Change: H555L
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 |
unknown
Transcript: ENSMUST00000153846
AA Change: H673L
|
SMART Domains |
Protein: ENSMUSP00000121707 Gene: ENSMUSG00000074419 AA Change: H673L
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
|
SMART Domains |
Protein: ENSMUSP00000140974 Gene: ENSMUSG00000074419
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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl3 |
A |
G |
1: 78,659,639 (GRCm39) |
N97S |
probably benign |
Het |
Aph1a |
T |
C |
3: 95,803,598 (GRCm39) |
V220A |
probably benign |
Het |
Bin2 |
T |
A |
15: 100,567,301 (GRCm39) |
Q25L |
probably damaging |
Het |
Ccdc102a |
T |
C |
8: 95,639,892 (GRCm39) |
E134G |
probably benign |
Het |
Cdh6 |
A |
G |
15: 13,051,487 (GRCm39) |
V382A |
probably benign |
Het |
Cep135 |
T |
A |
5: 76,781,548 (GRCm39) |
V845E |
possibly damaging |
Het |
Cngb3 |
T |
C |
4: 19,364,168 (GRCm39) |
L124P |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,233,975 (GRCm39) |
N725S |
probably damaging |
Het |
Dcn |
C |
A |
10: 97,343,605 (GRCm39) |
N188K |
probably benign |
Het |
Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
Ercc3 |
C |
T |
18: 32,394,389 (GRCm39) |
R590C |
probably damaging |
Het |
Fchsd1 |
A |
T |
18: 38,099,555 (GRCm39) |
L213* |
probably null |
Het |
Fmod |
A |
G |
1: 133,968,745 (GRCm39) |
S262G |
probably benign |
Het |
Gm45861 |
T |
C |
8: 27,995,043 (GRCm39) |
S530P |
unknown |
Het |
Ifih1 |
T |
C |
2: 62,436,791 (GRCm39) |
D544G |
possibly damaging |
Het |
Itpr1 |
A |
G |
6: 108,371,034 (GRCm39) |
|
probably null |
Het |
Larp1 |
CA |
CAA |
11: 57,949,422 (GRCm39) |
|
probably null |
Het |
Lbp |
T |
A |
2: 158,151,587 (GRCm39) |
S102R |
probably benign |
Het |
Lepr |
C |
A |
4: 101,672,398 (GRCm39) |
Q1141K |
probably damaging |
Het |
Mcm8 |
C |
A |
2: 132,663,327 (GRCm39) |
N148K |
probably benign |
Het |
Mcpt4 |
T |
G |
14: 56,298,090 (GRCm39) |
T154P |
possibly damaging |
Het |
Mrpl22 |
A |
G |
11: 58,066,134 (GRCm39) |
Y76C |
probably damaging |
Het |
Msln |
T |
C |
17: 25,969,144 (GRCm39) |
I414V |
probably benign |
Het |
Ncor1 |
G |
A |
11: 62,225,367 (GRCm39) |
T1798I |
probably damaging |
Het |
Nlrp4c |
T |
A |
7: 6,068,948 (GRCm39) |
F283Y |
probably damaging |
Het |
Os9 |
C |
T |
10: 126,935,953 (GRCm39) |
|
probably null |
Het |
Pira12 |
T |
A |
7: 3,898,632 (GRCm39) |
Q272L |
probably benign |
Het |
Pja2 |
T |
C |
17: 64,599,936 (GRCm39) |
E516G |
probably damaging |
Het |
Pofut1 |
T |
A |
2: 153,101,270 (GRCm39) |
|
probably benign |
Het |
Prl2b1 |
G |
T |
13: 27,569,249 (GRCm39) |
H116Q |
probably benign |
Het |
Ralgapa2 |
T |
C |
2: 146,230,422 (GRCm39) |
K1048E |
probably damaging |
Het |
Scnn1b |
G |
A |
7: 121,502,043 (GRCm39) |
V234M |
probably damaging |
Het |
Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
Sh3pxd2a |
C |
T |
19: 47,256,663 (GRCm39) |
G685D |
probably benign |
Het |
Six4 |
C |
A |
12: 73,150,299 (GRCm39) |
G749C |
probably benign |
Het |
Tnn |
G |
A |
1: 159,942,153 (GRCm39) |
T1115I |
probably damaging |
Het |
Tpcn1 |
T |
A |
5: 120,675,627 (GRCm39) |
Q779L |
probably null |
Het |
Ugt2a2 |
A |
G |
5: 87,622,459 (GRCm39) |
Y380H |
probably damaging |
Het |
Xkr8 |
T |
C |
4: 132,455,249 (GRCm39) |
T375A |
probably benign |
Het |
Zdhhc20 |
T |
A |
14: 58,096,032 (GRCm39) |
K135N |
probably damaging |
Het |
Zfp235 |
T |
A |
7: 23,836,463 (GRCm39) |
|
probably null |
Het |
Zfp354c |
A |
G |
11: 50,705,518 (GRCm39) |
V519A |
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 |
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 |
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'- GAAGCACCTCATTATGACACTTCC -3'
(R):5'- TTGTCATCTCCGGGGACAAC -3'
Sequencing Primer
(F):5'- TGAATTCCAAACTTTTGCTTCCTAG -3'
(R):5'- CAAGGGCCCTTGTTGGATGC -3'
|
Posted On |
2018-07-23 |