Incidental Mutation 'R6329:Pira13'
ID |
509390 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pira13
|
Ensembl Gene |
ENSMUSG00000074419 |
Gene Name |
paired-Ig-like receptor A13 |
Synonyms |
Gm15448, ENSMUSG00000074419 |
MMRRC Submission |
044483-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R6329 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
3819780-3828686 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3825850 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 340
(T340A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104260
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094911]
[ENSMUST00000108619]
[ENSMUST00000108620]
[ENSMUST00000153846]
[ENSMUST00000189095]
|
AlphaFold |
F6PZL4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094911
AA Change: T340A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092515 Gene: ENSMUSG00000074419 AA Change: T340A
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 |
possibly damaging
Transcript: ENSMUST00000108619
AA Change: T340A
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000104259 Gene: ENSMUSG00000074419 AA Change: T340A
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 damaging
Transcript: ENSMUST00000108620
AA Change: T340A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104260 Gene: ENSMUSG00000074419 AA Change: T340A
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 |
possibly damaging
Transcript: ENSMUST00000153846
AA Change: T340A
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000121707 Gene: ENSMUSG00000074419 AA Change: T340A
Domain | Start | End | E-Value | Type |
IG
|
7 |
96 |
8.01e-3 |
SMART |
low complexity region
|
132 |
141 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189095
AA Change: T340A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140974 Gene: ENSMUSG00000074419 AA Change: T340A
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: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
T |
C |
3: 137,879,457 (GRCm39) |
H72R |
probably damaging |
Het |
Abca13 |
A |
T |
11: 9,227,937 (GRCm39) |
N660I |
probably damaging |
Het |
Actr8 |
C |
T |
14: 29,715,041 (GRCm39) |
R619* |
probably null |
Het |
Adam18 |
C |
A |
8: 25,104,843 (GRCm39) |
G657V |
probably damaging |
Het |
Adcyap1 |
A |
G |
17: 93,510,227 (GRCm39) |
E85G |
probably benign |
Het |
Akr1c14 |
A |
G |
13: 4,137,302 (GRCm39) |
Y305C |
probably damaging |
Het |
Ankdd1b |
T |
A |
13: 96,591,388 (GRCm39) |
H37L |
possibly damaging |
Het |
Ap4e1 |
T |
C |
2: 126,903,636 (GRCm39) |
L846P |
probably benign |
Het |
Aqp9 |
A |
T |
9: 71,039,966 (GRCm39) |
Y105* |
probably null |
Het |
Arid1b |
C |
T |
17: 5,387,538 (GRCm39) |
Q1664* |
probably null |
Het |
Aup1 |
A |
G |
6: 83,031,588 (GRCm39) |
|
probably benign |
Het |
Bnip1 |
C |
A |
17: 27,005,684 (GRCm39) |
S64* |
probably null |
Het |
Calcr |
T |
A |
6: 3,687,621 (GRCm39) |
Q422L |
probably damaging |
Het |
Ccdc162 |
T |
A |
10: 41,539,147 (GRCm39) |
D407V |
possibly damaging |
Het |
Ccdc66 |
G |
T |
14: 27,208,441 (GRCm39) |
S760R |
probably benign |
Het |
Cd22 |
T |
A |
7: 30,577,193 (GRCm39) |
E38V |
probably damaging |
Het |
Cggbp1 |
T |
C |
16: 64,676,383 (GRCm39) |
Y150H |
probably damaging |
Het |
Chd3 |
T |
C |
11: 69,252,510 (GRCm39) |
K263R |
possibly damaging |
Het |
Col4a2 |
T |
A |
8: 11,496,238 (GRCm39) |
F1620I |
probably damaging |
Het |
Col6a2 |
T |
C |
10: 76,435,662 (GRCm39) |
T858A |
probably benign |
Het |
Dnah7a |
T |
A |
1: 53,580,273 (GRCm39) |
D1554V |
probably damaging |
Het |
Dnajc25 |
A |
T |
4: 59,013,678 (GRCm39) |
Q132L |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Ehbp1l1 |
A |
C |
19: 5,768,795 (GRCm39) |
I836S |
possibly damaging |
Het |
Elf1 |
A |
G |
14: 79,810,779 (GRCm39) |
Q288R |
possibly damaging |
Het |
Fbn1 |
C |
A |
2: 125,150,393 (GRCm39) |
V2608L |
possibly damaging |
Het |
Frmpd1 |
T |
C |
4: 45,268,551 (GRCm39) |
I232T |
possibly damaging |
Het |
Fuca1 |
T |
A |
4: 135,662,137 (GRCm39) |
I355N |
probably damaging |
Het |
Gcnt4 |
A |
G |
13: 97,083,781 (GRCm39) |
D359G |
probably damaging |
Het |
Gm5134 |
T |
C |
10: 75,790,494 (GRCm39) |
M30T |
possibly damaging |
Het |
Grk1 |
T |
G |
8: 13,455,704 (GRCm39) |
L196R |
probably damaging |
Het |
Igkv14-126 |
A |
C |
6: 67,873,548 (GRCm39) |
D92A |
probably damaging |
Het |
Kmt2c |
A |
G |
5: 25,520,600 (GRCm39) |
S1837P |
probably benign |
Het |
Lhx4 |
T |
A |
1: 155,578,300 (GRCm39) |
T281S |
probably benign |
Het |
Lrrc55 |
G |
T |
2: 85,026,653 (GRCm39) |
H124N |
probably benign |
Het |
Marchf8 |
T |
A |
6: 116,383,277 (GRCm39) |
I566N |
possibly damaging |
Het |
Mycbp2 |
G |
A |
14: 103,393,288 (GRCm39) |
A3091V |
probably benign |
Het |
Nlrp4b |
A |
G |
7: 10,458,847 (GRCm39) |
N355S |
probably benign |
Het |
Nmur2 |
A |
G |
11: 55,920,411 (GRCm39) |
V278A |
probably benign |
Het |
Nod1 |
T |
C |
6: 54,921,689 (GRCm39) |
M210V |
probably benign |
Het |
Nt5c1b |
T |
A |
12: 10,422,138 (GRCm39) |
C63* |
probably null |
Het |
Or1e1f |
A |
G |
11: 73,855,568 (GRCm39) |
I45V |
possibly damaging |
Het |
Or1j17 |
A |
T |
2: 36,578,694 (GRCm39) |
K227* |
probably null |
Het |
Or4g7 |
C |
T |
2: 111,309,573 (GRCm39) |
A148V |
possibly damaging |
Het |
Or5d37 |
G |
A |
2: 87,924,008 (GRCm39) |
P91S |
probably damaging |
Het |
Or7g21 |
A |
C |
9: 19,032,253 (GRCm39) |
M1L |
probably benign |
Het |
Or8b37 |
T |
C |
9: 37,959,121 (GRCm39) |
V201A |
probably benign |
Het |
Or8g24 |
C |
T |
9: 38,989,199 (GRCm39) |
V281I |
probably benign |
Het |
Osbp2 |
T |
A |
11: 3,665,153 (GRCm39) |
S517C |
probably damaging |
Het |
Pcdha1 |
C |
T |
18: 37,065,301 (GRCm39) |
P655L |
probably damaging |
Het |
Pdcd6 |
A |
G |
13: 74,452,098 (GRCm39) |
Y181H |
probably damaging |
Het |
Perp |
G |
A |
10: 18,731,502 (GRCm39) |
G154S |
probably damaging |
Het |
Perp |
G |
T |
10: 18,731,503 (GRCm39) |
G154V |
probably damaging |
Het |
Prokr1 |
T |
G |
6: 87,558,774 (GRCm39) |
T204P |
possibly damaging |
Het |
Prpf3 |
A |
T |
3: 95,739,890 (GRCm39) |
C630S |
probably damaging |
Het |
Pter |
C |
A |
2: 12,985,359 (GRCm39) |
H230N |
probably damaging |
Het |
Ptprs |
A |
T |
17: 56,724,427 (GRCm39) |
Y1167* |
probably null |
Het |
Rad54l2 |
T |
C |
9: 106,595,121 (GRCm39) |
I279V |
possibly damaging |
Het |
Rora |
T |
A |
9: 69,280,468 (GRCm39) |
L347Q |
probably damaging |
Het |
Runx1t1 |
T |
G |
4: 13,785,136 (GRCm39) |
M1R |
probably null |
Het |
Sdcbp |
A |
G |
4: 6,381,064 (GRCm39) |
S70G |
probably benign |
Het |
Serpinb12 |
A |
G |
1: 106,881,493 (GRCm39) |
Y210C |
probably damaging |
Het |
Sipa1 |
T |
C |
19: 5,701,517 (GRCm39) |
E1015G |
probably damaging |
Het |
Slc15a2 |
A |
C |
16: 36,572,144 (GRCm39) |
L740R |
possibly damaging |
Het |
Specc1 |
A |
G |
11: 62,047,379 (GRCm39) |
E916G |
probably damaging |
Het |
Spta1 |
T |
C |
1: 174,041,743 (GRCm39) |
I1371T |
possibly damaging |
Het |
Tagln3 |
T |
C |
16: 45,533,365 (GRCm39) |
M130V |
probably benign |
Het |
Tchh |
A |
T |
3: 93,353,752 (GRCm39) |
E1064V |
unknown |
Het |
Tdp1 |
A |
T |
12: 99,880,330 (GRCm39) |
S464C |
probably damaging |
Het |
Tdp1 |
G |
C |
12: 99,880,331 (GRCm39) |
S464T |
probably benign |
Het |
Tenm3 |
T |
C |
8: 48,729,884 (GRCm39) |
Y1374C |
probably damaging |
Het |
Tmprss3 |
A |
T |
17: 31,402,833 (GRCm39) |
Y455* |
probably null |
Het |
Ttc5 |
A |
G |
14: 51,003,385 (GRCm39) |
V433A |
possibly damaging |
Het |
Wnt5a |
A |
T |
14: 28,240,449 (GRCm39) |
R180* |
probably null |
Het |
Zfp53 |
A |
G |
17: 21,728,372 (GRCm39) |
D135G |
probably benign |
Het |
Zfp619 |
T |
A |
7: 39,186,969 (GRCm39) |
C1000S |
probably damaging |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
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'- TTGTTGGAGATCACTAGGTACTGAC -3'
(R):5'- AGATTTTCAACCCCAGGCTC -3'
Sequencing Primer
(F):5'- GGTGCATTCTTGTAGTAACCGTAAC -3'
(R):5'- AGGCTCTGCTCTCAGGACTATTC -3'
|
Posted On |
2018-04-02 |