Incidental Mutation 'R0735:Pira13'
| ID |
225995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pira13
|
| Ensembl Gene |
ENSMUSG00000074419 |
| Gene Name |
paired-Ig-like receptor A13 |
| Synonyms |
Gm15448, ENSMUSG00000074419 |
| MMRRC Submission |
038916-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R0735 (G1)
|
| Quality Score |
58 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3819780-3828686 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3824781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 533
(T533A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140974
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094911]
[ENSMUST00000108619]
[ENSMUST00000108620]
[ENSMUST00000153846]
[ENSMUST00000189095]
|
| AlphaFold |
F6PZL4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094911
AA Change: T434A
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419
AA Change: T434A
| 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: T535A
|
| SMART Domains |
Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: T535A
| 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: T434A
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419
AA Change: T434A
| 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: T535A
|
| SMART Domains |
Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: T535A
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
7 |
96 |
8.01e-3 |
SMART |
|
low complexity region
|
132 |
141 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189095
AA Change: T533A
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: T533A
| 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 |
0.1629 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.7%
- 20x: 91.8%
|
| Validation Efficiency |
95% (73/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
A |
14: 29,711,669 (GRCm39) |
M405K |
probably benign |
Het |
| Adam10 |
G |
A |
9: 70,655,533 (GRCm39) |
V334I |
possibly damaging |
Het |
| Adgra2 |
G |
T |
8: 27,607,346 (GRCm39) |
G686C |
probably damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,518 (GRCm39) |
I1623N |
probably damaging |
Het |
| Astn1 |
A |
T |
1: 158,299,959 (GRCm39) |
T100S |
possibly damaging |
Het |
| B3galt1 |
A |
C |
2: 67,948,923 (GRCm39) |
I213L |
possibly damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,644,236 (GRCm39) |
K101E |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,695,038 (GRCm39) |
I1552K |
possibly damaging |
Het |
| Camsap2 |
A |
G |
1: 136,220,626 (GRCm39) |
S324P |
probably damaging |
Het |
| Chrnb4 |
A |
G |
9: 54,951,084 (GRCm39) |
S60P |
probably damaging |
Het |
| Cpne1 |
A |
G |
2: 155,920,670 (GRCm39) |
|
probably null |
Het |
| Cubn |
G |
A |
2: 13,496,500 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cxcl15 |
T |
C |
5: 90,949,153 (GRCm39) |
M106T |
probably benign |
Het |
| Cyp2c23 |
A |
T |
19: 44,005,249 (GRCm39) |
M140K |
probably damaging |
Het |
| Dgke |
A |
G |
11: 88,950,901 (GRCm39) |
F104S |
probably benign |
Het |
| Dhx36 |
T |
A |
3: 62,380,150 (GRCm39) |
M849L |
probably benign |
Het |
| Dnah7a |
C |
T |
1: 53,583,670 (GRCm39) |
E1522K |
possibly damaging |
Het |
| Edil3 |
G |
T |
13: 89,325,297 (GRCm39) |
V219F |
probably damaging |
Het |
| Egln1 |
A |
G |
8: 125,675,234 (GRCm39) |
V187A |
possibly damaging |
Het |
| Fam193a |
T |
C |
5: 34,596,722 (GRCm39) |
I455T |
possibly damaging |
Het |
| Fdft1 |
A |
T |
14: 63,400,869 (GRCm39) |
I88N |
probably damaging |
Het |
| Fem1c |
G |
A |
18: 46,638,227 (GRCm39) |
R592C |
probably benign |
Het |
| Frs2 |
T |
A |
10: 116,910,487 (GRCm39) |
S292C |
probably damaging |
Het |
| Gpr107 |
T |
A |
2: 31,062,006 (GRCm39) |
F145I |
probably benign |
Het |
| Gpr153 |
T |
A |
4: 152,363,830 (GRCm39) |
C83* |
probably null |
Het |
| H2-Q7 |
T |
G |
17: 35,659,162 (GRCm39) |
|
probably null |
Het |
| Hsp90b1 |
A |
T |
10: 86,531,612 (GRCm39) |
|
probably benign |
Het |
| Kcnk1 |
C |
A |
8: 126,752,028 (GRCm39) |
N211K |
probably damaging |
Het |
| Klb |
T |
C |
5: 65,537,070 (GRCm39) |
V800A |
probably benign |
Het |
| Lat2 |
T |
C |
5: 134,635,637 (GRCm39) |
Y59C |
probably damaging |
Het |
| Mlkl |
A |
T |
8: 112,054,433 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Mtbp |
T |
A |
15: 55,426,338 (GRCm39) |
C93* |
probably null |
Het |
| Myo7a |
A |
G |
7: 97,730,387 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,449,180 (GRCm39) |
|
probably benign |
Het |
| Ogfrl1 |
T |
C |
1: 23,414,835 (GRCm39) |
Q224R |
possibly damaging |
Het |
| Or10j2 |
A |
G |
1: 173,098,569 (GRCm39) |
T276A |
probably benign |
Het |
| Or56b2 |
A |
T |
7: 104,338,026 (GRCm39) |
H268L |
probably damaging |
Het |
| Osbpl2 |
A |
G |
2: 179,792,083 (GRCm39) |
|
probably benign |
Het |
| Plb1 |
C |
T |
5: 32,442,264 (GRCm39) |
T252M |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbsn |
T |
C |
6: 92,166,674 (GRCm39) |
T657A |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rps6kb2 |
C |
A |
19: 4,207,882 (GRCm39) |
S348I |
probably benign |
Het |
| Rsrp1 |
C |
T |
4: 134,651,568 (GRCm39) |
R111W |
unknown |
Het |
| Ryr3 |
T |
C |
2: 112,563,327 (GRCm39) |
T2933A |
probably benign |
Het |
| Scara5 |
A |
G |
14: 65,968,468 (GRCm39) |
D247G |
possibly damaging |
Het |
| Slc7a11 |
C |
T |
3: 50,378,545 (GRCm39) |
S231N |
probably benign |
Het |
| Sod2 |
A |
T |
17: 13,229,451 (GRCm39) |
N91Y |
probably damaging |
Het |
| Spesp1 |
A |
T |
9: 62,179,967 (GRCm39) |
S314T |
probably benign |
Het |
| St3gal1 |
C |
A |
15: 66,985,536 (GRCm39) |
M39I |
probably benign |
Het |
| Stat6 |
A |
T |
10: 127,494,110 (GRCm39) |
I646F |
probably damaging |
Het |
| Tdrd1 |
A |
T |
19: 56,854,410 (GRCm39) |
K1119* |
probably null |
Het |
| Thbs2 |
A |
G |
17: 14,900,077 (GRCm39) |
I600T |
probably benign |
Het |
| Tor1a |
A |
G |
2: 30,853,850 (GRCm39) |
V160A |
probably damaging |
Het |
| Trdmt1 |
T |
G |
2: 13,528,249 (GRCm39) |
D104A |
probably benign |
Het |
| Trim58 |
T |
C |
11: 58,542,219 (GRCm39) |
V393A |
probably benign |
Het |
| Trip4 |
C |
T |
9: 65,792,200 (GRCm39) |
|
probably benign |
Het |
| Trip6 |
T |
C |
5: 137,309,083 (GRCm39) |
E341G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,545,539 (GRCm39) |
I32595F |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,155,339 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,596,890 (GRCm39) |
V3877I |
probably benign |
Het |
| Vmn1r29 |
G |
T |
6: 58,284,717 (GRCm39) |
G146C |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,707 (GRCm39) |
V704A |
probably benign |
Het |
| Vmn2r7 |
C |
T |
3: 64,623,788 (GRCm39) |
M268I |
probably benign |
Het |
| Wnt7b |
G |
A |
15: 85,421,696 (GRCm39) |
T248M |
probably damaging |
Het |
| Xab2 |
G |
A |
8: 3,663,649 (GRCm39) |
P394S |
possibly damaging |
Het |
| Zfp663 |
A |
G |
2: 165,200,995 (GRCm39) |
V13A |
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 |
|
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'- TCAGGAATGTGCCTTATGTCCAACC -3'
(R):5'- TCTGTCAGGAACCTAGTCTCTGCTC -3'
Sequencing Primer
(F):5'- GATCACCTCACCTGAGACTGTG -3'
(R):5'- TCCTAAGCAGGAGTGGACAC -3'
|
| Posted On |
2014-08-26 |
Incidental Mutation