Incidental Mutation 'R6987:Pira12'
| ID |
543021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pira12
|
| Ensembl Gene |
ENSMUSG00000074417 |
| Gene Name |
paired-Ig-like receptor A12 |
| Synonyms |
Gm14548 |
| MMRRC Submission |
045094-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R6987 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3887241-3901119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3900660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 30
(I30T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070639]
|
| AlphaFold |
E9Q1Z6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070639
AA Change: I30T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070073
Gene: ENSMUSG00000074417
AA Change: I30T
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.9%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
A |
G |
9: 70,629,978 (GRCm39) |
I137V |
probably benign |
Het |
| Agtr1b |
A |
C |
3: 20,370,585 (GRCm39) |
I7S |
probably benign |
Het |
| Akt2 |
G |
T |
7: 27,332,666 (GRCm39) |
V215L |
probably damaging |
Het |
| Ccdc148 |
C |
A |
2: 58,872,926 (GRCm39) |
L294F |
probably damaging |
Het |
| Ccdc3 |
T |
A |
2: 5,143,115 (GRCm39) |
V124E |
possibly damaging |
Het |
| Cldnd1 |
A |
G |
16: 58,551,734 (GRCm39) |
D121G |
probably benign |
Het |
| Cnr1 |
A |
G |
4: 33,944,739 (GRCm39) |
I376V |
probably benign |
Het |
| Cyp2c40 |
A |
G |
19: 39,801,211 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,881,065 (GRCm39) |
I601V |
possibly damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,353,792 (GRCm39) |
H2982N |
probably damaging |
Het |
| Elavl4 |
A |
T |
4: 110,108,602 (GRCm39) |
D55E |
possibly damaging |
Het |
| Enc1 |
T |
C |
13: 97,382,144 (GRCm39) |
I218T |
probably benign |
Het |
| Fbln2 |
T |
A |
6: 91,211,211 (GRCm39) |
V385D |
probably benign |
Het |
| Ffar2 |
A |
G |
7: 30,519,108 (GRCm39) |
V144A |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,778,630 (GRCm39) |
Q159* |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,387,600 (GRCm39) |
H1574R |
probably benign |
Het |
| Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,950,275 (GRCm39) |
N985D |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,410,874 (GRCm39) |
N1438S |
probably damaging |
Het |
| Masp1 |
C |
A |
16: 23,332,665 (GRCm39) |
V57F |
probably damaging |
Het |
| Mypn |
T |
C |
10: 63,028,910 (GRCm39) |
E51G |
probably benign |
Het |
| Nos1 |
C |
T |
5: 118,033,850 (GRCm39) |
T324M |
probably benign |
Het |
| Npas3 |
A |
G |
12: 54,115,036 (GRCm39) |
K635E |
possibly damaging |
Het |
| Or5p4 |
C |
A |
7: 107,680,338 (GRCm39) |
C112* |
probably null |
Het |
| Or8b12i |
A |
T |
9: 20,082,130 (GRCm39) |
S246T |
probably benign |
Het |
| Osbp2 |
T |
C |
11: 3,667,958 (GRCm39) |
E13G |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,852,575 (GRCm39) |
M636T |
probably benign |
Het |
| Pla2g4e |
C |
T |
2: 120,016,861 (GRCm39) |
A227T |
probably benign |
Het |
| Prex2 |
C |
A |
1: 11,240,976 (GRCm39) |
A1028E |
probably damaging |
Het |
| Prr14 |
A |
G |
7: 127,072,977 (GRCm39) |
D49G |
possibly damaging |
Het |
| Slc9a9 |
A |
G |
9: 94,552,043 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
G |
12: 76,660,021 (GRCm39) |
C960R |
probably benign |
Het |
| Taf15 |
C |
A |
11: 83,375,521 (GRCm39) |
T31K |
possibly damaging |
Het |
| Tdrd9 |
C |
A |
12: 111,992,027 (GRCm39) |
Q601K |
possibly damaging |
Het |
| Tes |
C |
A |
6: 17,086,154 (GRCm39) |
Q16K |
probably benign |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Tmem168 |
T |
A |
6: 13,591,476 (GRCm39) |
M63L |
possibly damaging |
Het |
| Trav14-1 |
C |
T |
14: 53,791,916 (GRCm39) |
R89* |
probably null |
Het |
| Trp53bp2 |
A |
T |
1: 182,274,200 (GRCm39) |
Y615F |
probably damaging |
Het |
| Ttc27 |
T |
C |
17: 75,084,736 (GRCm39) |
|
probably null |
Het |
| Usp25 |
T |
A |
16: 76,874,068 (GRCm39) |
V548E |
probably damaging |
Het |
| Vmn1r124 |
A |
T |
7: 20,993,743 (GRCm39) |
I267K |
probably benign |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,491 (GRCm39) |
M1T |
probably null |
Het |
| Zfp729a |
T |
A |
13: 67,768,058 (GRCm39) |
K724* |
probably null |
Het |
| Zfp850 |
A |
T |
7: 27,689,426 (GRCm39) |
C261S |
probably damaging |
Het |
| Zfp882 |
T |
A |
8: 72,668,517 (GRCm39) |
V448E |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,746,340 (GRCm39) |
M881V |
possibly 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 |
|
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 |
|
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'- AGGAACATCGATATTGACCTGC -3'
(R):5'- TCTGCAGCTGACCTGAAATG -3'
Sequencing Primer
(F):5'- CGATATTGACCTGCATTACTCAGG -3'
(R):5'- GAAATGCTCTTTTCTTCAGATCCAGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation