Incidental Mutation 'R9427:Pira12'
ID |
712675 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pira12
|
Ensembl Gene |
ENSMUSG00000074417 |
Gene Name |
paired-Ig-like receptor A12 |
Synonyms |
Gm14548 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
R9427 (G1)
|
Quality Score |
193.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
3887241-3901119 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to G
at 3897284 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070073
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070639]
[ENSMUST00000070639]
[ENSMUST00000070639]
|
AlphaFold |
E9Q1Z6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000070639
|
SMART Domains |
Protein: ENSMUSP00000070073 Gene: ENSMUSG00000074417
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000070639
|
SMART Domains |
Protein: ENSMUSP00000070073 Gene: ENSMUSG00000074417
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000070639
|
SMART Domains |
Protein: ENSMUSP00000070073 Gene: ENSMUSG00000074417
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
T |
C |
2: 103,531,244 (GRCm39) |
L458P |
probably damaging |
Het |
Adgrl2 |
T |
C |
3: 148,526,068 (GRCm39) |
N130S |
|
Het |
Adgrv1 |
T |
C |
13: 81,732,234 (GRCm39) |
S161G |
probably benign |
Het |
Aldh1l1 |
A |
G |
6: 90,536,903 (GRCm39) |
D153G |
probably benign |
Het |
Arhgap20 |
G |
A |
9: 51,754,991 (GRCm39) |
S444N |
probably damaging |
Het |
Bpifc |
A |
G |
10: 85,812,129 (GRCm39) |
F360L |
probably benign |
Het |
Cacna1s |
A |
T |
1: 136,012,090 (GRCm39) |
I511F |
probably benign |
Het |
Chdh |
G |
A |
14: 29,758,806 (GRCm39) |
V584I |
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,589,445 (GRCm39) |
R1037G |
probably benign |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
T |
C |
9: 105,816,992 (GRCm39) |
N440D |
unknown |
Het |
Dsel |
A |
T |
1: 111,787,425 (GRCm39) |
Y1037N |
probably damaging |
Het |
Eloa |
A |
G |
4: 135,748,935 (GRCm39) |
M1T |
probably null |
Het |
Elp2 |
C |
G |
18: 24,755,560 (GRCm39) |
P436A |
probably damaging |
Het |
Etv5 |
A |
C |
16: 22,218,112 (GRCm39) |
S328A |
probably damaging |
Het |
Fat3 |
A |
T |
9: 16,288,691 (GRCm39) |
Y277* |
probably null |
Het |
Fbxo38 |
A |
T |
18: 62,644,160 (GRCm39) |
H899Q |
probably benign |
Het |
Fstl5 |
T |
C |
3: 76,229,583 (GRCm39) |
V128A |
|
Het |
Gm3371 |
T |
C |
14: 44,641,066 (GRCm39) |
E166G |
|
Het |
Herc6 |
T |
C |
6: 57,636,722 (GRCm39) |
S813P |
probably damaging |
Het |
Ifnlr1 |
G |
A |
4: 135,426,142 (GRCm39) |
G75D |
probably damaging |
Het |
Kbtbd2 |
A |
T |
6: 56,756,132 (GRCm39) |
C535S |
probably damaging |
Het |
Lgr5 |
A |
C |
10: 115,288,913 (GRCm39) |
L577W |
probably damaging |
Het |
Limk1 |
A |
T |
5: 134,686,358 (GRCm39) |
D590E |
probably benign |
Het |
Lnpep |
A |
T |
17: 17,795,609 (GRCm39) |
S301T |
probably benign |
Het |
Lrch1 |
A |
C |
14: 75,032,787 (GRCm39) |
V521G |
probably benign |
Het |
Lrrc71 |
T |
C |
3: 87,650,368 (GRCm39) |
H235R |
probably benign |
Het |
Mttp |
A |
G |
3: 137,820,962 (GRCm39) |
S282P |
probably benign |
Het |
Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
Or2t1 |
G |
A |
14: 14,328,456 (GRCm38) |
G115D |
probably damaging |
Het |
Or55b10 |
T |
A |
7: 102,143,206 (GRCm39) |
T259S |
probably benign |
Het |
Or5a3 |
T |
C |
19: 12,399,889 (GRCm39) |
V72A |
|
Het |
Or5m13 |
T |
C |
2: 85,748,704 (GRCm39) |
V145A |
probably benign |
Het |
Or7a41 |
C |
T |
10: 78,871,395 (GRCm39) |
T255I |
probably damaging |
Het |
Or7c70 |
A |
G |
10: 78,682,906 (GRCm39) |
V281A |
probably damaging |
Het |
Ppfia3 |
T |
C |
7: 45,008,213 (GRCm39) |
Q219R |
possibly damaging |
Het |
Prdm5 |
T |
A |
6: 65,771,321 (GRCm39) |
M44K |
possibly damaging |
Het |
Psmc5 |
T |
C |
11: 106,153,303 (GRCm39) |
I315T |
probably damaging |
Het |
Ptprd |
T |
A |
4: 76,051,440 (GRCm39) |
E27V |
probably benign |
Het |
Rft1 |
T |
A |
14: 30,411,781 (GRCm39) |
I443N |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Slco1a5 |
A |
G |
6: 142,214,001 (GRCm39) |
M40T |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,069,804 (GRCm39) |
T2661A |
possibly damaging |
Het |
Tigit |
T |
C |
16: 43,482,515 (GRCm39) |
D73G |
probably benign |
Het |
Tmem237 |
G |
A |
1: 59,159,213 (GRCm39) |
|
probably benign |
Het |
Trim42 |
T |
C |
9: 97,247,874 (GRCm39) |
D274G |
probably damaging |
Het |
Trmt61a |
C |
A |
12: 111,647,490 (GRCm39) |
L196I |
probably damaging |
Het |
Tspan8 |
T |
C |
10: 115,669,213 (GRCm39) |
C83R |
probably damaging |
Het |
Ttc7 |
CCTGCTGCTGCTGCTGCTG |
CCTGCTGCTGCTGCTG |
17: 87,678,147 (GRCm39) |
|
probably benign |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Unc80 |
G |
A |
1: 66,594,158 (GRCm39) |
G1179E |
probably damaging |
Het |
Vmn2r2 |
A |
G |
3: 64,041,945 (GRCm39) |
S257P |
probably damaging |
Het |
Xpo6 |
G |
T |
7: 125,748,418 (GRCm39) |
Y404* |
probably null |
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 |
R6650:Pira12
|
UTSW |
7 |
3,898,632 (GRCm39) |
missense |
probably benign |
0.15 |
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 |
R9777:Pira12
|
UTSW |
7 |
3,897,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGCTGATCATGGGACTTTG -3'
(R):5'- ATCAGGAACCTAGCCTCTGC -3'
Sequencing Primer
(F):5'- CTGATCATGGGACTTTGATTTTAGTC -3'
(R):5'- CTCTGCTCAGGCTCTAATGGG -3'
|
Posted On |
2022-05-16 |