Incidental Mutation 'R7194:Pira13'
| ID |
559783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pira13
|
| Ensembl Gene |
ENSMUSG00000074419 |
| Gene Name |
paired-Ig-like receptor A13 |
| Synonyms |
Gm15448, ENSMUSG00000074419 |
| MMRRC Submission |
045335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R7194 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3819780-3828686 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3827792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 122
(W122R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094911]
[ENSMUST00000108619]
[ENSMUST00000108620]
[ENSMUST00000153846]
[ENSMUST00000189095]
|
| AlphaFold |
F6PZL4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094911
AA Change: W122R
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419
AA Change: W122R
| 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: W122R
| 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: W122R
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419
AA Change: W122R
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: W122R
| 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: W122R
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: W122R
| 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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
A |
G |
8: 60,979,656 (GRCm39) |
I173V |
probably benign |
Het |
| Abi3bp |
C |
T |
16: 56,382,734 (GRCm39) |
R115C |
probably damaging |
Het |
| Adam18 |
A |
G |
8: 25,141,868 (GRCm39) |
S234P |
possibly damaging |
Het |
| Adam20 |
A |
G |
8: 41,249,449 (GRCm39) |
R520G |
probably benign |
Het |
| Angel2 |
C |
G |
1: 190,677,194 (GRCm39) |
T514R |
probably damaging |
Het |
| Ankar |
A |
T |
1: 72,698,192 (GRCm39) |
I954N |
probably benign |
Het |
| Ankrd7 |
A |
T |
6: 18,879,342 (GRCm39) |
Y262F |
probably benign |
Het |
| Ano8 |
C |
A |
8: 71,935,007 (GRCm39) |
L398F |
possibly damaging |
Het |
| App |
C |
T |
16: 84,822,319 (GRCm39) |
V356I |
probably benign |
Het |
| Atp1a2 |
C |
A |
1: 172,108,194 (GRCm39) |
E636* |
probably null |
Het |
| Cckbr |
G |
A |
7: 105,084,552 (GRCm39) |
E429K |
possibly damaging |
Het |
| Cfi |
T |
G |
3: 129,648,708 (GRCm39) |
S197R |
probably damaging |
Het |
| Chn2 |
A |
G |
6: 54,263,162 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
C |
A |
1: 45,370,860 (GRCm39) |
A405D |
unknown |
Het |
| Colec12 |
A |
T |
18: 9,848,248 (GRCm39) |
N142I |
probably benign |
Het |
| Copa |
T |
C |
1: 171,947,511 (GRCm39) |
L1109P |
probably damaging |
Het |
| Cpeb3 |
T |
A |
19: 37,152,152 (GRCm39) |
M75L |
probably benign |
Het |
| Cyp2d11 |
T |
C |
15: 82,275,969 (GRCm39) |
Y204C |
probably benign |
Het |
| Defa17 |
A |
G |
8: 22,146,613 (GRCm39) |
T80A |
probably benign |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dppa5a |
C |
T |
9: 78,275,002 (GRCm39) |
|
probably null |
Het |
| Fat4 |
G |
T |
3: 38,943,033 (GRCm39) |
S642I |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,038,044 (GRCm39) |
C3899S |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,641,482 (GRCm39) |
V1869A |
probably damaging |
Het |
| Gm10308 |
A |
T |
17: 91,396,389 (GRCm39) |
I104L |
unknown |
Het |
| Gpr139 |
C |
T |
7: 118,743,896 (GRCm39) |
A230T |
possibly damaging |
Het |
| Grm8 |
T |
C |
6: 27,618,486 (GRCm39) |
N452S |
probably benign |
Het |
| Hmox1 |
T |
C |
8: 75,823,551 (GRCm39) |
V73A |
probably benign |
Het |
| Hspa4 |
A |
G |
11: 53,156,765 (GRCm39) |
F641L |
probably damaging |
Het |
| Ifi207 |
T |
G |
1: 173,557,490 (GRCm39) |
H416P |
possibly damaging |
Het |
| Igkv10-96 |
G |
T |
6: 68,609,028 (GRCm39) |
T89K |
possibly damaging |
Het |
| Kmt2d |
A |
C |
15: 98,741,714 (GRCm39) |
V4482G |
unknown |
Het |
| Krt28 |
T |
A |
11: 99,265,230 (GRCm39) |
K146* |
probably null |
Het |
| Krt82 |
T |
C |
15: 101,451,191 (GRCm39) |
N406S |
probably damaging |
Het |
| Marveld3 |
A |
T |
8: 110,686,477 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
C |
T |
11: 97,564,394 (GRCm39) |
S370L |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,585,750 (GRCm39) |
L26S |
unknown |
Het |
| Mup12 |
T |
A |
4: 60,696,734 (GRCm39) |
E48V |
probably benign |
Het |
| Myh1 |
G |
A |
11: 67,102,183 (GRCm39) |
V825I |
probably benign |
Het |
| Nipal3 |
G |
A |
4: 135,201,732 (GRCm39) |
T152I |
probably benign |
Het |
| Nrg3 |
A |
T |
14: 39,194,435 (GRCm39) |
M108K |
probably benign |
Het |
| Nup50l |
T |
G |
6: 96,141,756 (GRCm39) |
E429D |
probably benign |
Het |
| Oog3 |
A |
T |
4: 143,889,169 (GRCm39) |
I3N |
probably damaging |
Het |
| Or10d4c |
G |
A |
9: 39,558,387 (GRCm39) |
V122I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,392,512 (GRCm39) |
C1616R |
probably damaging |
Het |
| Ppa2 |
T |
A |
3: 133,053,953 (GRCm39) |
|
probably null |
Het |
| Ppfibp2 |
T |
A |
7: 107,322,187 (GRCm39) |
|
probably null |
Het |
| Ppp4c |
T |
C |
7: 126,385,653 (GRCm39) |
N229D |
probably damaging |
Het |
| Ptpn9 |
T |
C |
9: 56,929,570 (GRCm39) |
F96L |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,241,094 (GRCm39) |
V742A |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,312,591 (GRCm39) |
T1104A |
probably benign |
Het |
| Rasal1 |
G |
A |
5: 120,813,557 (GRCm39) |
A644T |
probably benign |
Het |
| Rcor3 |
T |
A |
1: 191,810,261 (GRCm39) |
T139S |
possibly damaging |
Het |
| Rfx5 |
T |
A |
3: 94,862,454 (GRCm39) |
I37N |
probably damaging |
Het |
| Rnf112 |
C |
T |
11: 61,341,683 (GRCm39) |
G374R |
probably damaging |
Het |
| Rrp12 |
T |
C |
19: 41,859,979 (GRCm39) |
I1034V |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,447,538 (GRCm39) |
Y3195N |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,215,062 (GRCm39) |
I1243T |
probably benign |
Het |
| Sirt7 |
A |
T |
11: 120,509,799 (GRCm39) |
C362S |
probably benign |
Het |
| Slc17a6 |
T |
A |
7: 51,276,640 (GRCm39) |
S130T |
probably damaging |
Het |
| Snrnp48 |
A |
C |
13: 38,393,875 (GRCm39) |
Y60S |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,060,859 (GRCm39) |
E7260G |
probably damaging |
Het |
| Trbv15 |
C |
T |
6: 41,118,529 (GRCm39) |
T95I |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,771,943 (GRCm39) |
N68K |
probably benign |
Het |
| Ugcg |
A |
G |
4: 59,213,210 (GRCm39) |
Y132C |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,304,672 (GRCm39) |
C2391S |
probably damaging |
Het |
| Vmn1r103 |
C |
A |
7: 20,244,438 (GRCm39) |
V8L |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,440,649 (GRCm39) |
N403I |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,827,551 (GRCm39) |
S1006P |
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 |
|
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 |
|
|
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'- AGAACAGGGCGTGGTACTTC -3'
(R):5'- AATGTTCCTACAGCACCCAG -3'
Sequencing Primer
(F):5'- CGTGGTACTTCCTTGTAGAGTAG -3'
(R):5'- ATCAGGCTACAGTGACCTCCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation