Incidental Mutation 'R0724:Pira13'
ID |
262010 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pira13
|
Ensembl Gene |
ENSMUSG00000074419 |
Gene Name |
paired-Ig-like receptor A13 |
Synonyms |
Gm15448, ENSMUSG00000074419 |
MMRRC Submission |
038906-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
R0724 (G1)
|
Quality Score |
37 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
3816781-3825687 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3816872 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 564
(N564S)
|
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
|
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 |
unknown
Transcript: ENSMUST00000108619
AA Change: N665S
|
SMART Domains |
Protein: ENSMUSP00000104259 Gene: ENSMUSG00000074419 AA Change: N665S
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 |
possibly damaging
Transcript: ENSMUST00000108620
AA Change: N564S
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104260 Gene: ENSMUSG00000074419 AA Change: N564S
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: N682S
|
SMART Domains |
Protein: ENSMUSP00000121707 Gene: ENSMUSG00000074419 AA Change: N682S
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
|
SMART Domains |
Protein: ENSMUSP00000140974 Gene: ENSMUSG00000074419
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 |
0.1795  |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
Validation Efficiency |
100% (62/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
A |
G |
5: 145,044,763 (GRCm38) |
E136G |
probably benign |
Het |
Adgre4 |
T |
A |
17: 55,852,281 (GRCm38) |
S655R |
probably benign |
Het |
Ak7 |
T |
A |
12: 105,710,254 (GRCm38) |
V71E |
probably benign |
Het |
Ank2 |
C |
T |
3: 126,962,337 (GRCm38) |
R1077H |
probably damaging |
Het |
Anxa3 |
A |
G |
5: 96,828,748 (GRCm38) |
T198A |
possibly damaging |
Het |
Atp1a1 |
A |
T |
3: 101,592,439 (GRCm38) |
I109N |
possibly damaging |
Het |
Camta1 |
A |
G |
4: 151,077,892 (GRCm38) |
I119T |
probably damaging |
Het |
Carm1 |
A |
G |
9: 21,587,374 (GRCm38) |
Y504C |
probably damaging |
Het |
Casp1 |
C |
T |
9: 5,303,077 (GRCm38) |
P177L |
probably benign |
Het |
Ccdc122 |
C |
A |
14: 77,092,077 (GRCm38) |
|
probably benign |
Het |
Ces1a |
A |
G |
8: 93,039,513 (GRCm38) |
S158P |
probably damaging |
Het |
Ces3a |
T |
A |
8: 105,050,195 (GRCm38) |
D103E |
possibly damaging |
Het |
Clstn1 |
A |
C |
4: 149,643,624 (GRCm38) |
D583A |
possibly damaging |
Het |
Corin |
A |
G |
5: 72,332,795 (GRCm38) |
|
probably benign |
Het |
Cryba1 |
T |
C |
11: 77,719,457 (GRCm38) |
D144G |
probably damaging |
Het |
Cwf19l2 |
G |
T |
9: 3,421,377 (GRCm38) |
|
probably null |
Het |
Dis3l |
T |
C |
9: 64,307,126 (GRCm38) |
T1027A |
possibly damaging |
Het |
Dop1b |
A |
G |
16: 93,762,325 (GRCm38) |
E653G |
probably benign |
Het |
Dst |
A |
G |
1: 34,188,677 (GRCm38) |
I1459V |
probably benign |
Het |
Dyrk3 |
T |
C |
1: 131,130,140 (GRCm38) |
T64A |
probably benign |
Het |
Emp2 |
C |
T |
16: 10,284,615 (GRCm38) |
C111Y |
probably benign |
Het |
Enam |
A |
G |
5: 88,501,994 (GRCm38) |
Y454C |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,352,064 (GRCm38) |
C1328S |
probably benign |
Het |
Gata3 |
T |
C |
2: 9,874,575 (GRCm38) |
T197A |
probably benign |
Het |
Gm1043 |
A |
G |
5: 37,187,229 (GRCm38) |
T212A |
probably damaging |
Het |
H2-Eb1 |
T |
C |
17: 34,315,032 (GRCm38) |
|
probably benign |
Het |
Hand1 |
T |
C |
11: 57,831,680 (GRCm38) |
H36R |
probably damaging |
Het |
Hmgcs2 |
C |
A |
3: 98,297,001 (GRCm38) |
Y239* |
probably null |
Het |
Hoxc12 |
A |
G |
15: 102,937,055 (GRCm38) |
Y68C |
probably damaging |
Het |
Inpp5a |
A |
G |
7: 139,516,663 (GRCm38) |
I143V |
probably benign |
Het |
Klhdc2 |
C |
A |
12: 69,297,048 (GRCm38) |
F18L |
probably benign |
Het |
Kpnb1 |
T |
C |
11: 97,178,304 (GRCm38) |
Y251C |
probably damaging |
Het |
Lrch4 |
A |
T |
5: 137,637,308 (GRCm38) |
N315I |
probably damaging |
Het |
Map3k10 |
A |
C |
7: 27,668,355 (GRCm38) |
V286G |
probably damaging |
Het |
Myo7b |
G |
A |
18: 32,005,549 (GRCm38) |
|
probably benign |
Het |
Nlrp2 |
G |
T |
7: 5,319,222 (GRCm38) |
L809I |
probably damaging |
Het |
Oacyl |
T |
C |
18: 65,737,825 (GRCm38) |
|
probably benign |
Het |
Or4q3 |
A |
G |
14: 50,345,917 (GRCm38) |
V175A |
possibly damaging |
Het |
Paxbp1 |
T |
A |
16: 91,036,536 (GRCm38) |
D270V |
probably damaging |
Het |
Pdia3 |
G |
A |
2: 121,432,377 (GRCm38) |
G275S |
probably damaging |
Het |
Plcb3 |
G |
A |
19: 6,963,392 (GRCm38) |
R359C |
probably damaging |
Het |
Plcxd3 |
G |
A |
15: 4,516,868 (GRCm38) |
S118N |
probably damaging |
Het |
Ptpn14 |
T |
C |
1: 189,850,947 (GRCm38) |
S664P |
possibly damaging |
Het |
Sirt1 |
T |
C |
10: 63,323,973 (GRCm38) |
I443V |
possibly damaging |
Het |
Slc7a8 |
G |
A |
14: 54,735,186 (GRCm38) |
|
probably benign |
Het |
Smim14 |
A |
G |
5: 65,453,339 (GRCm38) |
|
probably benign |
Het |
Sost |
C |
T |
11: 101,966,918 (GRCm38) |
C19Y |
probably benign |
Het |
Tcaf1 |
G |
T |
6: 42,675,367 (GRCm38) |
A727E |
probably damaging |
Het |
Thoc1 |
T |
C |
18: 9,963,829 (GRCm38) |
L144P |
probably damaging |
Het |
Tmem132b |
A |
T |
5: 125,783,421 (GRCm38) |
T577S |
possibly damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,038,213 (GRCm38) |
H239Y |
probably benign |
Het |
Tshr |
T |
C |
12: 91,538,286 (GRCm38) |
F666S |
probably damaging |
Het |
Wdr1 |
A |
G |
5: 38,540,862 (GRCm38) |
V192A |
possibly damaging |
Het |
Zfp697 |
T |
C |
3: 98,428,166 (GRCm38) |
W416R |
probably damaging |
Het |
|
Other mutations in Pira13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00434:Pira13
|
APN |
7 |
3,823,089 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01675:Pira13
|
APN |
7 |
3,822,608 (GRCm38) |
splice site |
probably benign |
|
IGL02040:Pira13
|
APN |
7 |
3,821,517 (GRCm38) |
splice site |
probably benign |
|
IGL02547:Pira13
|
APN |
7 |
3,821,661 (GRCm38) |
missense |
probably damaging |
0.98 |
IGL02749:Pira13
|
APN |
7 |
3,822,625 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02822:Pira13
|
APN |
7 |
3,816,918 (GRCm38) |
missense |
possibly damaging |
0.50 |
IGL02883:Pira13
|
APN |
7 |
3,822,180 (GRCm38) |
missense |
possibly damaging |
0.95 |
IGL03140:Pira13
|
APN |
7 |
3,823,248 (GRCm38) |
missense |
probably benign |
0.00 |
IGL03185:Pira13
|
APN |
7 |
3,823,230 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03212:Pira13
|
APN |
7 |
3,823,133 (GRCm38) |
missense |
probably benign |
0.00 |
R0347:Pira13
|
UTSW |
7 |
3,822,874 (GRCm38) |
missense |
probably damaging |
1.00 |
R0652:Pira13
|
UTSW |
7 |
3,822,763 (GRCm38) |
missense |
probably benign |
0.02 |
R0668:Pira13
|
UTSW |
7 |
3,822,700 (GRCm38) |
missense |
probably damaging |
0.99 |
R0735:Pira13
|
UTSW |
7 |
3,821,782 (GRCm38) |
missense |
possibly damaging |
0.79 |
R1074:Pira13
|
UTSW |
7 |
3,823,070 (GRCm38) |
missense |
probably damaging |
1.00 |
R1339:Pira13
|
UTSW |
7 |
3,822,156 (GRCm38) |
missense |
probably damaging |
1.00 |
R1541:Pira13
|
UTSW |
7 |
3,816,989 (GRCm38) |
missense |
probably damaging |
1.00 |
R1570:Pira13
|
UTSW |
7 |
3,823,061 (GRCm38) |
missense |
probably benign |
0.45 |
R1880:Pira13
|
UTSW |
7 |
3,824,951 (GRCm38) |
critical splice donor site |
probably null |
|
R1892:Pira13
|
UTSW |
7 |
3,824,574 (GRCm38) |
missense |
probably benign |
0.15 |
R1909:Pira13
|
UTSW |
7 |
3,822,919 (GRCm38) |
missense |
probably benign |
0.31 |
R2881:Pira13
|
UTSW |
7 |
3,825,641 (GRCm38) |
start codon destroyed |
probably null |
0.98 |
R2967:Pira13
|
UTSW |
7 |
3,822,687 (GRCm38) |
missense |
probably damaging |
1.00 |
R2983:Pira13
|
UTSW |
7 |
3,821,575 (GRCm38) |
missense |
probably damaging |
1.00 |
R4213:Pira13
|
UTSW |
7 |
3,821,554 (GRCm38) |
missense |
probably damaging |
1.00 |
R4319:Pira13
|
UTSW |
7 |
3,822,755 (GRCm38) |
missense |
possibly damaging |
0.46 |
R4320:Pira13
|
UTSW |
7 |
3,822,755 (GRCm38) |
missense |
possibly damaging |
0.46 |
R4321:Pira13
|
UTSW |
7 |
3,822,755 (GRCm38) |
missense |
possibly damaging |
0.46 |
R4322:Pira13
|
UTSW |
7 |
3,822,755 (GRCm38) |
missense |
possibly damaging |
0.46 |
R4323:Pira13
|
UTSW |
7 |
3,822,755 (GRCm38) |
missense |
possibly damaging |
0.46 |
R4536:Pira13
|
UTSW |
7 |
3,822,252 (GRCm38) |
missense |
probably benign |
0.00 |
R4597:Pira13
|
UTSW |
7 |
3,822,155 (GRCm38) |
missense |
possibly damaging |
0.81 |
R4713:Pira13
|
UTSW |
7 |
3,822,681 (GRCm38) |
nonsense |
probably null |
|
R4725:Pira13
|
UTSW |
7 |
3,821,548 (GRCm38) |
missense |
probably benign |
|
R4934:Pira13
|
UTSW |
7 |
3,822,677 (GRCm38) |
missense |
probably damaging |
1.00 |
R4971:Pira13
|
UTSW |
7 |
3,822,806 (GRCm38) |
missense |
probably benign |
0.00 |
R5138:Pira13
|
UTSW |
7 |
3,824,557 (GRCm38) |
nonsense |
probably null |
|
R5805:Pira13
|
UTSW |
7 |
3,822,623 (GRCm38) |
missense |
probably benign |
0.15 |
R5824:Pira13
|
UTSW |
7 |
3,824,754 (GRCm38) |
missense |
probably damaging |
1.00 |
R5841:Pira13
|
UTSW |
7 |
3,822,899 (GRCm38) |
nonsense |
probably null |
|
R6027:Pira13
|
UTSW |
7 |
3,824,639 (GRCm38) |
missense |
possibly damaging |
0.94 |
R6214:Pira13
|
UTSW |
7 |
3,821,718 (GRCm38) |
missense |
probably damaging |
0.99 |
R6329:Pira13
|
UTSW |
7 |
3,822,851 (GRCm38) |
missense |
probably damaging |
1.00 |
R6429:Pira13
|
UTSW |
7 |
3,822,346 (GRCm38) |
missense |
possibly damaging |
0.63 |
R6650:Pira13
|
UTSW |
7 |
3,816,899 (GRCm38) |
missense |
possibly damaging |
0.83 |
R6681:Pira13
|
UTSW |
7 |
3,822,252 (GRCm38) |
missense |
probably benign |
0.00 |
R6961:Pira13
|
UTSW |
7 |
3,825,125 (GRCm38) |
missense |
probably damaging |
1.00 |
R6989:Pira13
|
UTSW |
7 |
3,822,164 (GRCm38) |
missense |
possibly damaging |
0.95 |
R7025:Pira13
|
UTSW |
7 |
3,821,262 (GRCm38) |
nonsense |
probably null |
|
R7071:Pira13
|
UTSW |
7 |
3,821,668 (GRCm38) |
missense |
unknown |
|
R7194:Pira13
|
UTSW |
7 |
3,824,793 (GRCm38) |
missense |
|
|
R7215:Pira13
|
UTSW |
7 |
3,822,311 (GRCm38) |
missense |
unknown |
|
R7580:Pira13
|
UTSW |
7 |
3,824,612 (GRCm38) |
missense |
unknown |
|
R7776:Pira13
|
UTSW |
7 |
3,823,247 (GRCm38) |
missense |
unknown |
|
R7863:Pira13
|
UTSW |
7 |
3,824,802 (GRCm38) |
critical splice acceptor site |
probably null |
|
R7909:Pira13
|
UTSW |
7 |
3,821,709 (GRCm38) |
missense |
unknown |
|
R8131:Pira13
|
UTSW |
7 |
3,822,162 (GRCm38) |
nonsense |
probably null |
|
R8178:Pira13
|
UTSW |
7 |
3,821,261 (GRCm38) |
missense |
unknown |
|
R8188:Pira13
|
UTSW |
7 |
3,823,127 (GRCm38) |
missense |
unknown |
|
R8220:Pira13
|
UTSW |
7 |
3,822,904 (GRCm38) |
missense |
unknown |
|
R8226:Pira13
|
UTSW |
7 |
3,825,110 (GRCm38) |
missense |
|
|
R8441:Pira13
|
UTSW |
7 |
3,823,302 (GRCm38) |
nonsense |
probably null |
|
R8739:Pira13
|
UTSW |
7 |
3,825,189 (GRCm38) |
missense |
|
|
R8785:Pira13
|
UTSW |
7 |
3,816,929 (GRCm38) |
missense |
unknown |
|
R8912:Pira13
|
UTSW |
7 |
3,822,819 (GRCm38) |
missense |
unknown |
|
R8941:Pira13
|
UTSW |
7 |
3,822,381 (GRCm38) |
missense |
probably damaging |
1.00 |
R8990:Pira13
|
UTSW |
7 |
3,821,274 (GRCm38) |
missense |
unknown |
|
R9049:Pira13
|
UTSW |
7 |
3,816,891 (GRCm38) |
missense |
unknown |
|
R9090:Pira13
|
UTSW |
7 |
3,816,998 (GRCm38) |
missense |
unknown |
|
R9134:Pira13
|
UTSW |
7 |
3,822,183 (GRCm38) |
missense |
|
|
R9136:Pira13
|
UTSW |
7 |
3,823,286 (GRCm38) |
missense |
|
|
R9244:Pira13
|
UTSW |
7 |
3,822,227 (GRCm38) |
missense |
unknown |
|
R9271:Pira13
|
UTSW |
7 |
3,816,998 (GRCm38) |
missense |
unknown |
|
R9328:Pira13
|
UTSW |
7 |
3,824,581 (GRCm38) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTTCAGGAAACAAAGGCTCCCAG -3'
(R):5'- TGGAACTCAGAAGAAACACTACGGC -3'
Sequencing Primer
(F):5'- TGAGGAAGCACCTCATTATGAC -3'
(R):5'- AGAGTAGAACCTTGTCATCTCCG -3'
|
Posted On |
2015-02-04 |