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 |
Incidental Mutation