Incidental Mutation 'R6650:Pira12'
ID |
527740 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pira12
|
Ensembl Gene |
ENSMUSG00000074417 |
Gene Name |
paired-Ig-like receptor A12 |
Synonyms |
Gm14548 |
MMRRC Submission |
044771-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
R6650 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
3887241-3901119 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3898632 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 272
(Q272L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070073
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070639]
|
AlphaFold |
E9Q1Z6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070639
AA Change: Q272L
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000070073 Gene: ENSMUSG00000074417 AA Change: Q272L
Domain | Start | End | E-Value | Type |
IG
|
34 |
118 |
6.41e-2 |
SMART |
IG
|
129 |
315 |
8.59e-3 |
SMART |
IG_like
|
237 |
302 |
1.91e-1 |
SMART |
IG
|
328 |
415 |
3.36e0 |
SMART |
IG_like
|
435 |
502 |
3.11e0 |
SMART |
IG
|
529 |
618 |
8.59e-3 |
SMART |
low complexity region
|
627 |
636 |
N/A |
INTRINSIC |
low complexity region
|
654 |
663 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl3 |
A |
G |
1: 78,659,639 (GRCm39) |
N97S |
probably benign |
Het |
Aph1a |
T |
C |
3: 95,803,598 (GRCm39) |
V220A |
probably benign |
Het |
Bin2 |
T |
A |
15: 100,567,301 (GRCm39) |
Q25L |
probably damaging |
Het |
Ccdc102a |
T |
C |
8: 95,639,892 (GRCm39) |
E134G |
probably benign |
Het |
Cdh6 |
A |
G |
15: 13,051,487 (GRCm39) |
V382A |
probably benign |
Het |
Cep135 |
T |
A |
5: 76,781,548 (GRCm39) |
V845E |
possibly damaging |
Het |
Cngb3 |
T |
C |
4: 19,364,168 (GRCm39) |
L124P |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,233,975 (GRCm39) |
N725S |
probably damaging |
Het |
Dcn |
C |
A |
10: 97,343,605 (GRCm39) |
N188K |
probably benign |
Het |
Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
Ercc3 |
C |
T |
18: 32,394,389 (GRCm39) |
R590C |
probably damaging |
Het |
Fchsd1 |
A |
T |
18: 38,099,555 (GRCm39) |
L213* |
probably null |
Het |
Fmod |
A |
G |
1: 133,968,745 (GRCm39) |
S262G |
probably benign |
Het |
Gm45861 |
T |
C |
8: 27,995,043 (GRCm39) |
S530P |
unknown |
Het |
Ifih1 |
T |
C |
2: 62,436,791 (GRCm39) |
D544G |
possibly damaging |
Het |
Itpr1 |
A |
G |
6: 108,371,034 (GRCm39) |
|
probably null |
Het |
Larp1 |
CA |
CAA |
11: 57,949,422 (GRCm39) |
|
probably null |
Het |
Lbp |
T |
A |
2: 158,151,587 (GRCm39) |
S102R |
probably benign |
Het |
Lepr |
C |
A |
4: 101,672,398 (GRCm39) |
Q1141K |
probably damaging |
Het |
Mcm8 |
C |
A |
2: 132,663,327 (GRCm39) |
N148K |
probably benign |
Het |
Mcpt4 |
T |
G |
14: 56,298,090 (GRCm39) |
T154P |
possibly damaging |
Het |
Mrpl22 |
A |
G |
11: 58,066,134 (GRCm39) |
Y76C |
probably damaging |
Het |
Msln |
T |
C |
17: 25,969,144 (GRCm39) |
I414V |
probably benign |
Het |
Ncor1 |
G |
A |
11: 62,225,367 (GRCm39) |
T1798I |
probably damaging |
Het |
Nlrp4c |
T |
A |
7: 6,068,948 (GRCm39) |
F283Y |
probably damaging |
Het |
Os9 |
C |
T |
10: 126,935,953 (GRCm39) |
|
probably null |
Het |
Pira13 |
T |
A |
7: 3,819,898 (GRCm39) |
H555L |
possibly damaging |
Het |
Pja2 |
T |
C |
17: 64,599,936 (GRCm39) |
E516G |
probably damaging |
Het |
Pofut1 |
T |
A |
2: 153,101,270 (GRCm39) |
|
probably benign |
Het |
Prl2b1 |
G |
T |
13: 27,569,249 (GRCm39) |
H116Q |
probably benign |
Het |
Ralgapa2 |
T |
C |
2: 146,230,422 (GRCm39) |
K1048E |
probably damaging |
Het |
Scnn1b |
G |
A |
7: 121,502,043 (GRCm39) |
V234M |
probably damaging |
Het |
Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
Sh3pxd2a |
C |
T |
19: 47,256,663 (GRCm39) |
G685D |
probably benign |
Het |
Six4 |
C |
A |
12: 73,150,299 (GRCm39) |
G749C |
probably benign |
Het |
Tnn |
G |
A |
1: 159,942,153 (GRCm39) |
T1115I |
probably damaging |
Het |
Tpcn1 |
T |
A |
5: 120,675,627 (GRCm39) |
Q779L |
probably null |
Het |
Ugt2a2 |
A |
G |
5: 87,622,459 (GRCm39) |
Y380H |
probably damaging |
Het |
Xkr8 |
T |
C |
4: 132,455,249 (GRCm39) |
T375A |
probably benign |
Het |
Zdhhc20 |
T |
A |
14: 58,096,032 (GRCm39) |
K135N |
probably damaging |
Het |
Zfp235 |
T |
A |
7: 23,836,463 (GRCm39) |
|
probably null |
Het |
Zfp354c |
A |
G |
11: 50,705,518 (GRCm39) |
V519A |
probably damaging |
Het |
|
Other mutations in Pira12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00541:Pira12
|
APN |
7 |
3,900,385 (GRCm39) |
splice site |
probably benign |
|
IGL01358:Pira12
|
APN |
7 |
3,898,686 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01868:Pira12
|
APN |
7 |
3,900,174 (GRCm39) |
nonsense |
probably null |
|
IGL02421:Pira12
|
APN |
7 |
3,899,994 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02544:Pira12
|
APN |
7 |
3,900,185 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02960:Pira12
|
APN |
7 |
3,900,078 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02973:Pira12
|
APN |
7 |
3,900,239 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4495001:Pira12
|
UTSW |
7 |
3,900,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R0761:Pira12
|
UTSW |
7 |
3,896,978 (GRCm39) |
critical splice donor site |
probably null |
|
R1917:Pira12
|
UTSW |
7 |
3,900,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R1920:Pira12
|
UTSW |
7 |
3,900,871 (GRCm39) |
missense |
probably damaging |
0.98 |
R2219:Pira12
|
UTSW |
7 |
3,900,488 (GRCm39) |
missense |
probably benign |
0.10 |
R2220:Pira12
|
UTSW |
7 |
3,900,488 (GRCm39) |
missense |
probably benign |
0.10 |
R4991:Pira12
|
UTSW |
7 |
3,898,571 (GRCm39) |
missense |
probably benign |
0.37 |
R5271:Pira12
|
UTSW |
7 |
3,900,566 (GRCm39) |
nonsense |
probably null |
|
R5909:Pira12
|
UTSW |
7 |
3,900,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R6008:Pira12
|
UTSW |
7 |
3,897,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R6193:Pira12
|
UTSW |
7 |
3,901,049 (GRCm39) |
critical splice donor site |
probably null |
|
R6218:Pira12
|
UTSW |
7 |
3,897,031 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6219:Pira12
|
UTSW |
7 |
3,897,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R6879:Pira12
|
UTSW |
7 |
3,899,961 (GRCm39) |
missense |
probably benign |
0.40 |
R6987:Pira12
|
UTSW |
7 |
3,900,660 (GRCm39) |
missense |
probably damaging |
0.99 |
R7082:Pira12
|
UTSW |
7 |
3,898,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R7087:Pira12
|
UTSW |
7 |
3,900,218 (GRCm39) |
missense |
probably benign |
0.08 |
R7144:Pira12
|
UTSW |
7 |
3,900,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R7298:Pira12
|
UTSW |
7 |
3,898,264 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7359:Pira12
|
UTSW |
7 |
3,901,103 (GRCm39) |
start gained |
probably benign |
|
R7751:Pira12
|
UTSW |
7 |
3,898,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R7810:Pira12
|
UTSW |
7 |
3,897,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R8344:Pira12
|
UTSW |
7 |
3,899,954 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8428:Pira12
|
UTSW |
7 |
3,898,257 (GRCm39) |
missense |
probably benign |
0.02 |
R8875:Pira12
|
UTSW |
7 |
3,897,256 (GRCm39) |
missense |
probably damaging |
0.98 |
R8943:Pira12
|
UTSW |
7 |
3,898,365 (GRCm39) |
missense |
probably benign |
0.11 |
R9045:Pira12
|
UTSW |
7 |
3,897,547 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9125:Pira12
|
UTSW |
7 |
3,900,021 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9129:Pira12
|
UTSW |
7 |
3,898,500 (GRCm39) |
critical splice donor site |
probably null |
|
R9224:Pira12
|
UTSW |
7 |
3,900,234 (GRCm39) |
missense |
probably benign |
0.13 |
R9427:Pira12
|
UTSW |
7 |
3,897,284 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9777:Pira12
|
UTSW |
7 |
3,897,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGCCTGGGGTTGAGAATC -3'
(R):5'- CAAAGGCAACATCTTCTGGTGG -3'
Sequencing Primer
(F):5'- GGTTGAGAATCTGACTGTCCCC -3'
(R):5'- GCAACATCTTCTGGTGGGACATTC -3'
|
Posted On |
2018-07-23 |