Incidental Mutation 'R7215:Pira13'
| ID |
561384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pira13
|
| Ensembl Gene |
ENSMUSG00000074419 |
| Gene Name |
paired-Ig-like receptor A13 |
| Synonyms |
Gm15448, ENSMUSG00000074419 |
| MMRRC Submission |
045287-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R7215 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3819780-3828686 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 3825310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 444
(C444Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121707
(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 |
|
| SMART Domains |
Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: C444Y
| 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
|
| SMART Domains |
Protein: ENSMUSP00000104260
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 |
|
low complexity region
|
538 |
547 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153846
AA Change: C444Y
|
| SMART Domains |
Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: C444Y
| 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: C444Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: C444Y
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (79/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
G |
A |
13: 77,471,690 (GRCm39) |
V1032M |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,238,405 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
T |
A |
10: 61,047,375 (GRCm39) |
H739L |
possibly damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,841,397 (GRCm39) |
E758G |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,496,277 (GRCm39) |
T826S |
probably damaging |
Het |
| Arhgap45 |
C |
T |
10: 79,861,316 (GRCm39) |
T493I |
possibly damaging |
Het |
| Atg9b |
A |
C |
5: 24,593,039 (GRCm39) |
W455G |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,416,785 (GRCm39) |
N496S |
possibly damaging |
Het |
| Bckdk |
T |
A |
7: 127,504,282 (GRCm39) |
D60E |
possibly damaging |
Het |
| Blmh |
A |
T |
11: 76,856,725 (GRCm39) |
K244* |
probably null |
Het |
| Btbd17 |
T |
C |
11: 114,682,291 (GRCm39) |
I474V |
possibly damaging |
Het |
| C87436 |
A |
G |
6: 86,439,662 (GRCm39) |
E451G |
possibly damaging |
Het |
| Camta1 |
T |
C |
4: 151,229,194 (GRCm39) |
E546G |
probably damaging |
Het |
| Casp1 |
A |
G |
9: 5,298,523 (GRCm39) |
|
probably null |
Het |
| Ccdc116 |
A |
G |
16: 16,957,792 (GRCm39) |
Y456H |
probably damaging |
Het |
| Cep350 |
A |
C |
1: 155,770,453 (GRCm39) |
S1812R |
possibly damaging |
Het |
| Chrna10 |
A |
G |
7: 101,761,415 (GRCm39) |
L392P |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,842,181 (GRCm39) |
C434* |
probably null |
Het |
| Cxcl9 |
G |
A |
5: 92,471,747 (GRCm39) |
Q98* |
probably null |
Het |
| Cyp2c54 |
G |
A |
19: 40,034,626 (GRCm39) |
T348I |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,657,509 (GRCm39) |
R756C |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,815,034 (GRCm39) |
T239A |
probably benign |
Het |
| Dnase2a |
A |
T |
8: 85,636,399 (GRCm39) |
|
probably null |
Het |
| Dpyd |
A |
G |
3: 119,059,681 (GRCm39) |
T793A |
probably benign |
Het |
| Edil3 |
T |
C |
13: 88,970,169 (GRCm39) |
|
probably null |
Het |
| Ehd1 |
T |
A |
19: 6,347,672 (GRCm39) |
I342N |
possibly damaging |
Het |
| Erbb4 |
A |
T |
1: 68,378,619 (GRCm39) |
S341T |
probably benign |
Het |
| Ezh1 |
T |
A |
11: 101,106,125 (GRCm39) |
T87S |
probably benign |
Het |
| Fam20b |
A |
T |
1: 156,518,123 (GRCm39) |
W224R |
probably damaging |
Het |
| Galns |
A |
T |
8: 123,326,087 (GRCm39) |
|
probably null |
Het |
| Gm13283 |
C |
T |
4: 88,678,967 (GRCm39) |
|
probably benign |
Het |
| Gm49342 |
A |
T |
14: 51,182,040 (GRCm39) |
M23L |
probably benign |
Het |
| Gm5114 |
T |
A |
7: 39,060,795 (GRCm39) |
H18L |
probably benign |
Het |
| Gpr89 |
A |
G |
3: 96,787,404 (GRCm39) |
W299R |
probably damaging |
Het |
| Hadha |
G |
T |
5: 30,324,840 (GRCm39) |
N755K |
probably benign |
Het |
| Inpp5d |
A |
T |
1: 87,628,940 (GRCm39) |
H620L |
probably benign |
Het |
| Klk1b3 |
T |
A |
7: 43,849,828 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,401,097 (GRCm39) |
T663A |
probably damaging |
Het |
| Man1b1 |
A |
G |
2: 25,240,402 (GRCm39) |
N601S |
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,251,307 (GRCm39) |
V605A |
possibly damaging |
Het |
| Med23 |
C |
G |
10: 24,764,327 (GRCm39) |
D311E |
probably benign |
Het |
| Myo3a |
G |
T |
2: 22,250,378 (GRCm39) |
D82Y |
possibly damaging |
Het |
| Nsd1 |
T |
A |
13: 55,395,454 (GRCm39) |
D1121E |
probably benign |
Het |
| Odad1 |
C |
T |
7: 45,586,046 (GRCm39) |
R148C |
probably damaging |
Het |
| Or4c116 |
G |
A |
2: 88,942,845 (GRCm39) |
Q4* |
probably null |
Het |
| Or5al1 |
C |
T |
2: 85,989,800 (GRCm39) |
V305I |
probably benign |
Het |
| Or8b3b |
A |
G |
9: 38,584,743 (GRCm39) |
I12T |
probably benign |
Het |
| Otoa |
T |
C |
7: 120,717,795 (GRCm39) |
V19A |
unknown |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,439 (GRCm39) |
T322S |
probably benign |
Het |
| Pecam1 |
T |
C |
11: 106,586,745 (GRCm39) |
T257A |
probably benign |
Het |
| Pi16 |
G |
T |
17: 29,538,072 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
C |
T |
6: 139,700,589 (GRCm39) |
T293M |
|
Het |
| Pkhd1l1 |
T |
A |
15: 44,391,559 (GRCm39) |
C1542S |
possibly damaging |
Het |
| Prrc2b |
G |
A |
2: 32,119,309 (GRCm39) |
G2172R |
probably damaging |
Het |
| Prrt1 |
A |
T |
17: 34,848,677 (GRCm39) |
|
probably null |
Het |
| Ptprb |
T |
A |
10: 116,174,681 (GRCm39) |
N784K |
possibly damaging |
Het |
| Rem1 |
C |
A |
2: 152,470,069 (GRCm39) |
S18R |
probably damaging |
Het |
| Ripk4 |
G |
A |
16: 97,548,523 (GRCm39) |
|
probably null |
Het |
| Scn8a |
G |
A |
15: 100,927,711 (GRCm39) |
V1397I |
possibly damaging |
Het |
| Setbp1 |
T |
A |
18: 78,900,052 (GRCm39) |
H1205L |
probably damaging |
Het |
| Shmt1 |
T |
C |
11: 60,692,361 (GRCm39) |
I132V |
probably damaging |
Het |
| Slc24a1 |
T |
A |
9: 64,835,785 (GRCm39) |
T781S |
unknown |
Het |
| Sncaip |
C |
T |
18: 53,040,415 (GRCm39) |
Q870* |
probably null |
Het |
| Stab1 |
A |
T |
14: 30,882,754 (GRCm39) |
N416K |
possibly damaging |
Het |
| Tcea1 |
A |
G |
1: 4,937,706 (GRCm39) |
D26G |
probably damaging |
Het |
| Tcf20 |
A |
T |
15: 82,737,690 (GRCm39) |
S1254T |
probably benign |
Het |
| Tead4 |
T |
A |
6: 128,205,641 (GRCm39) |
I354F |
probably damaging |
Het |
| Tex36 |
G |
A |
7: 133,189,147 (GRCm39) |
R142* |
probably null |
Het |
| Trav6d-3 |
T |
A |
14: 52,962,799 (GRCm39) |
L12Q |
probably damaging |
Het |
| Trpc4 |
A |
G |
3: 54,102,317 (GRCm39) |
T72A |
possibly damaging |
Het |
| Trrap |
G |
A |
5: 144,733,945 (GRCm39) |
A933T |
probably benign |
Het |
| Tspoap1 |
T |
A |
11: 87,661,315 (GRCm39) |
I589N |
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,980,170 (GRCm39) |
V918E |
probably benign |
Het |
| Tut4 |
T |
C |
4: 108,384,205 (GRCm39) |
Y1091H |
probably damaging |
Het |
| Txn2 |
A |
G |
15: 77,811,886 (GRCm39) |
|
probably null |
Het |
| Ucn3 |
T |
G |
13: 3,991,365 (GRCm39) |
T96P |
probably benign |
Het |
| Usp36 |
T |
C |
11: 118,155,980 (GRCm39) |
E764G |
possibly damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,681,323 (GRCm39) |
H77L |
probably benign |
Het |
| Vmn2r57 |
T |
C |
7: 41,049,710 (GRCm39) |
T680A |
probably benign |
Het |
| Vwa3a |
T |
C |
7: 120,394,853 (GRCm39) |
I891T |
possibly damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,990,695 (GRCm39) |
S431P |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,687,039 (GRCm39) |
I803V |
probably benign |
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 |
|
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 |
|
|
|
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'- TAGAGGCTGACCACTCAGAG -3'
(R):5'- CAAAATGGAGAGCCTGTGTTCTC -3'
Sequencing Primer
(F):5'- CTGACCACTCAGAGGAAAGGTTG -3'
(R):5'- TCTCGAACACAGCCCTGATTGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation