Incidental Mutation 'R4971:Pira13'
ID |
384447 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pira13
|
Ensembl Gene |
ENSMUSG00000074419 |
Gene Name |
paired-Ig-like receptor A13 |
Synonyms |
Gm15448, ENSMUSG00000074419 |
MMRRC Submission |
042566-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R4971 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
3819780-3828686 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3825805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 355
(M355L)
|
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: M355L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000092515 Gene: ENSMUSG00000074419 AA Change: M355L
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: M355L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000104259 Gene: ENSMUSG00000074419 AA Change: M355L
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: M355L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000104260 Gene: ENSMUSG00000074419 AA Change: M355L
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: M355L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121707 Gene: ENSMUSG00000074419 AA Change: M355L
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: M355L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000140974 Gene: ENSMUSG00000074419 AA Change: M355L
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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
T |
6: 128,524,190 (GRCm39) |
F1147L |
probably damaging |
Het |
Abca2 |
T |
C |
2: 25,332,006 (GRCm39) |
S1373P |
probably damaging |
Het |
Abca9 |
A |
T |
11: 110,042,874 (GRCm39) |
S392T |
probably benign |
Het |
Abcd2 |
T |
C |
15: 91,047,313 (GRCm39) |
D580G |
probably benign |
Het |
Actl9 |
T |
A |
17: 33,652,882 (GRCm39) |
L314H |
probably damaging |
Het |
Adamtsl1 |
T |
C |
4: 86,255,168 (GRCm39) |
F746L |
probably damaging |
Het |
Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
Cdkl3 |
T |
C |
11: 51,901,995 (GRCm39) |
V68A |
possibly damaging |
Het |
Cnot1 |
A |
G |
8: 96,448,254 (GRCm39) |
F2266S |
probably damaging |
Het |
Colq |
T |
C |
14: 31,267,034 (GRCm39) |
R159G |
probably damaging |
Het |
Ctse |
A |
T |
1: 131,592,130 (GRCm39) |
D152V |
probably damaging |
Het |
Cul7 |
G |
T |
17: 46,970,045 (GRCm39) |
M1011I |
probably benign |
Het |
Cyb5r4 |
G |
T |
9: 86,939,224 (GRCm39) |
V336L |
possibly damaging |
Het |
Dync2h1 |
A |
T |
9: 7,131,949 (GRCm39) |
H1619Q |
probably benign |
Het |
Eif2ak1 |
A |
G |
5: 143,818,986 (GRCm39) |
K216E |
probably damaging |
Het |
F5 |
A |
T |
1: 164,021,755 (GRCm39) |
H1410L |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,446,604 (GRCm39) |
Y2388C |
probably damaging |
Het |
Fsip2 |
C |
T |
2: 82,816,222 (GRCm39) |
T3985M |
probably benign |
Het |
Gak |
T |
C |
5: 108,744,672 (GRCm39) |
Y535C |
probably damaging |
Het |
Gzmc |
G |
T |
14: 56,469,826 (GRCm39) |
P158Q |
probably damaging |
Het |
Hook3 |
A |
G |
8: 26,572,607 (GRCm39) |
Y135H |
probably benign |
Het |
Ikbke |
GCC |
G |
1: 131,203,004 (GRCm39) |
|
probably null |
Het |
Ing4 |
A |
T |
6: 125,020,961 (GRCm39) |
M28L |
probably benign |
Het |
Irs3 |
T |
A |
5: 137,642,754 (GRCm39) |
D228V |
probably damaging |
Het |
Jade1 |
T |
A |
3: 41,555,836 (GRCm39) |
I301N |
probably damaging |
Het |
Kif13b |
T |
A |
14: 64,995,011 (GRCm39) |
M921K |
possibly damaging |
Het |
Kmt2c |
A |
G |
5: 25,515,870 (GRCm39) |
S2658P |
probably benign |
Het |
Map3k4 |
A |
G |
17: 12,468,382 (GRCm39) |
|
probably null |
Het |
Map4k5 |
C |
T |
12: 69,899,493 (GRCm39) |
V53I |
possibly damaging |
Het |
Mdn1 |
T |
C |
4: 32,739,827 (GRCm39) |
S3694P |
probably damaging |
Het |
Mroh7 |
A |
G |
4: 106,548,749 (GRCm39) |
V1038A |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,370,015 (GRCm39) |
V3185A |
possibly damaging |
Het |
Mup5 |
T |
A |
4: 61,751,297 (GRCm39) |
N117I |
probably benign |
Het |
Myo19 |
T |
A |
11: 84,783,023 (GRCm39) |
M179K |
probably damaging |
Het |
Myo1c |
A |
G |
11: 75,562,414 (GRCm39) |
Y902C |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,335,469 (GRCm39) |
I977K |
probably damaging |
Het |
Nos1 |
T |
C |
5: 118,081,899 (GRCm39) |
V1240A |
probably benign |
Het |
Nr3c1 |
T |
C |
18: 39,619,930 (GRCm39) |
D119G |
probably damaging |
Het |
Oga |
C |
A |
19: 45,758,485 (GRCm39) |
|
probably null |
Het |
Or4c107 |
A |
T |
2: 88,788,863 (GRCm39) |
N18Y |
probably damaging |
Het |
Pdlim2 |
A |
G |
14: 70,405,208 (GRCm39) |
V219A |
probably damaging |
Het |
Polr1g |
T |
C |
7: 19,091,487 (GRCm39) |
N207D |
probably benign |
Het |
Prdx1 |
T |
C |
4: 116,549,128 (GRCm39) |
|
probably null |
Het |
Rbfox1 |
C |
T |
16: 7,111,952 (GRCm39) |
R173C |
probably damaging |
Het |
Rbp3 |
T |
A |
14: 33,676,427 (GRCm39) |
V125D |
probably damaging |
Het |
Resf1 |
T |
C |
6: 149,227,097 (GRCm39) |
|
probably benign |
Het |
Rhot1 |
T |
A |
11: 80,124,300 (GRCm39) |
I154K |
probably damaging |
Het |
Runx1t1 |
C |
T |
4: 13,837,978 (GRCm39) |
R129C |
probably damaging |
Het |
Setbp1 |
A |
G |
18: 78,901,382 (GRCm39) |
S762P |
probably benign |
Het |
Slc13a3 |
A |
G |
2: 165,290,619 (GRCm39) |
I67T |
probably damaging |
Het |
Tbc1d2b |
A |
T |
9: 90,100,923 (GRCm39) |
M689K |
probably benign |
Het |
Top2a |
T |
C |
11: 98,884,667 (GRCm39) |
Y1517C |
probably damaging |
Het |
Txndc2 |
A |
T |
17: 65,945,849 (GRCm39) |
N109K |
probably damaging |
Het |
Tyk2 |
A |
G |
9: 21,031,797 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
A |
T |
5: 102,096,838 (GRCm39) |
L320* |
probably null |
Het |
Zfp456 |
T |
C |
13: 67,514,995 (GRCm39) |
E237G |
probably benign |
Het |
Zscan10 |
A |
G |
17: 23,826,147 (GRCm39) |
E103G |
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 |
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'- TTGTTGGAGATCACTAGGTACTGAC -3'
(R):5'- CAGATTTTCAACCCCAGGCTC -3'
Sequencing Primer
(F):5'- GGTACTGACCACAGCTGTG -3'
(R):5'- GGACTATTCCTTCCCACAGAG -3'
|
Posted On |
2016-04-27 |