Incidental Mutation 'R1570:Pira13'
| ID |
177178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pira13
|
| Ensembl Gene |
ENSMUSG00000074419 |
| Gene Name |
paired-Ig-like receptor A13 |
| Synonyms |
Gm15448, ENSMUSG00000074419 |
| MMRRC Submission |
039609-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R1570 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3819780-3828686 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3826060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 311
(E311G)
|
| 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: E311G
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419
AA Change: E311G
| 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: E311G
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: E311G
| 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: E311G
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419
AA Change: E311G
| 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: E311G
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: E311G
| 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: E311G
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: E311G
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.0%
|
| Validation Efficiency |
93% (77/83) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apobec1 |
A |
G |
6: 122,568,044 (GRCm39) |
|
probably null |
Het |
| Arhgap21 |
G |
T |
2: 20,885,651 (GRCm39) |
Q348K |
probably benign |
Het |
| Arl5c |
A |
G |
11: 97,883,213 (GRCm39) |
V129A |
probably benign |
Het |
| Armh1 |
A |
G |
4: 117,087,189 (GRCm39) |
S159P |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,034,309 (GRCm39) |
L82P |
probably damaging |
Het |
| Bahcc1 |
G |
A |
11: 120,163,009 (GRCm39) |
A436T |
possibly damaging |
Het |
| Btc |
T |
C |
5: 91,550,576 (GRCm39) |
D2G |
unknown |
Het |
| C1s2 |
G |
A |
6: 124,602,723 (GRCm39) |
T490M |
probably benign |
Het |
| Caap1 |
C |
T |
4: 94,444,814 (GRCm39) |
G43D |
probably benign |
Het |
| Ccr5 |
T |
C |
9: 123,925,000 (GRCm39) |
V201A |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdhr5 |
C |
A |
7: 140,851,682 (GRCm39) |
G541C |
probably damaging |
Het |
| Cep170 |
A |
G |
1: 176,583,367 (GRCm39) |
I1004T |
possibly damaging |
Het |
| Chd9 |
A |
T |
8: 91,763,170 (GRCm39) |
M2332L |
probably benign |
Het |
| Clk1 |
T |
A |
1: 58,453,584 (GRCm39) |
H334L |
probably benign |
Het |
| Cyp4b1 |
G |
A |
4: 115,493,160 (GRCm39) |
S228F |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 66,003,156 (GRCm39) |
N883D |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,176,926 (GRCm39) |
L11P |
probably benign |
Het |
| Ephx4 |
A |
G |
5: 107,567,717 (GRCm39) |
E225G |
probably damaging |
Het |
| Erich6 |
C |
T |
3: 58,538,080 (GRCm39) |
|
probably null |
Het |
| Espl1 |
A |
G |
15: 102,206,802 (GRCm39) |
T89A |
probably damaging |
Het |
| Evi2 |
T |
A |
11: 79,407,076 (GRCm39) |
K166N |
possibly damaging |
Het |
| Glrx5 |
A |
G |
12: 104,999,127 (GRCm39) |
T57A |
possibly damaging |
Het |
| Gnptab |
T |
A |
10: 88,255,316 (GRCm39) |
V222E |
probably damaging |
Het |
| Gpr155 |
T |
C |
2: 73,200,382 (GRCm39) |
Y375C |
possibly damaging |
Het |
| Hsd11b1 |
C |
G |
1: 192,922,635 (GRCm39) |
E141Q |
probably damaging |
Het |
| Ildr2 |
T |
C |
1: 166,131,154 (GRCm39) |
F337L |
probably damaging |
Het |
| Ino80 |
C |
T |
2: 119,277,509 (GRCm39) |
R322Q |
possibly damaging |
Het |
| Lcp2 |
A |
G |
11: 34,039,601 (GRCm39) |
D467G |
probably benign |
Het |
| Lmbr1 |
A |
G |
5: 29,459,556 (GRCm39) |
I229T |
probably damaging |
Het |
| Lnpep |
A |
T |
17: 17,799,418 (GRCm39) |
M79K |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,610,999 (GRCm39) |
Q564R |
possibly damaging |
Het |
| Lpin2 |
T |
A |
17: 71,552,176 (GRCm39) |
L794* |
probably null |
Het |
| Lrrc37 |
A |
G |
11: 103,500,764 (GRCm39) |
Y597H |
possibly damaging |
Het |
| Lrrc45 |
T |
C |
11: 120,610,935 (GRCm39) |
|
probably null |
Het |
| Mtus1 |
A |
G |
8: 41,529,278 (GRCm39) |
S751P |
probably damaging |
Het |
| Nbr1 |
T |
C |
11: 101,455,656 (GRCm39) |
|
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,599,749 (GRCm39) |
F592S |
possibly damaging |
Het |
| Nup133 |
T |
A |
8: 124,675,915 (GRCm39) |
M1L |
possibly damaging |
Het |
| Or2a20 |
T |
C |
6: 43,194,285 (GRCm39) |
V146A |
probably benign |
Het |
| Or3a10 |
A |
C |
11: 73,935,633 (GRCm39) |
F156V |
possibly damaging |
Het |
| Or4n4 |
T |
G |
14: 50,518,981 (GRCm39) |
H243P |
probably damaging |
Het |
| Or4p8 |
A |
C |
2: 88,727,290 (GRCm39) |
I217S |
probably damaging |
Het |
| Or52b4i |
C |
A |
7: 102,191,177 (GRCm39) |
H11Q |
probably damaging |
Het |
| Or8i2 |
A |
T |
2: 86,852,616 (GRCm39) |
S91T |
probably benign |
Het |
| Otud7b |
T |
C |
3: 96,063,208 (GRCm39) |
C816R |
probably damaging |
Het |
| Pi4k2a |
T |
C |
19: 42,089,083 (GRCm39) |
V148A |
probably benign |
Het |
| Pih1d2 |
T |
C |
9: 50,532,479 (GRCm39) |
M195T |
probably benign |
Het |
| Plpp6 |
T |
C |
19: 28,942,178 (GRCm39) |
F260L |
probably damaging |
Het |
| R3hcc1l |
A |
T |
19: 42,570,393 (GRCm39) |
T663S |
probably damaging |
Het |
| Rnf25 |
T |
C |
1: 74,634,426 (GRCm39) |
E199G |
probably damaging |
Het |
| Scin |
G |
A |
12: 40,134,380 (GRCm39) |
|
probably benign |
Het |
| Serpinb1c |
A |
T |
13: 33,080,973 (GRCm39) |
S37T |
probably benign |
Het |
| Snx19 |
A |
G |
9: 30,339,639 (GRCm39) |
D259G |
probably damaging |
Het |
| Sorcs3 |
A |
G |
19: 48,752,620 (GRCm39) |
K805R |
probably damaging |
Het |
| Sox6 |
C |
A |
7: 115,376,358 (GRCm39) |
G125W |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,100,174 (GRCm39) |
I64V |
probably benign |
Het |
| Spmip10 |
T |
A |
18: 56,727,606 (GRCm39) |
D101E |
probably benign |
Het |
| St6galnac1 |
A |
G |
11: 116,657,474 (GRCm39) |
|
probably benign |
Het |
| Sult1c2 |
T |
C |
17: 54,143,991 (GRCm39) |
I105V |
probably benign |
Het |
| Tacr3 |
T |
G |
3: 134,535,517 (GRCm39) |
S162A |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,721,549 (GRCm39) |
S1013P |
probably damaging |
Het |
| Zbtb11 |
C |
A |
16: 55,811,178 (GRCm39) |
N445K |
probably benign |
Het |
| Zfp423 |
A |
C |
8: 88,509,186 (GRCm39) |
V261G |
probably benign |
Het |
| Zfp59 |
T |
C |
7: 27,553,016 (GRCm39) |
V156A |
probably benign |
Het |
| Zscan2 |
C |
A |
7: 80,513,141 (GRCm39) |
A42E |
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 |
|
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'- GCACAGTGGAGTGTCATGTTTCCTC -3'
(R):5'- CCTCCGAAAGAGCAATGACCATCTG -3'
Sequencing Primer
(F):5'- TGCTGTCACCACAGTGC -3'
(R):5'- TCAGGGGAACCTGGATGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation