Incidental Mutation 'R3625:Pramel51'
| ID |
269385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel51
|
| Ensembl Gene |
ENSMUSG00000066027 |
| Gene Name |
PRAME like 51 |
| Synonyms |
Gm10436 |
| MMRRC Submission |
040679-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R3625 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
88142359-88148664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88142731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 296
(S296G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071580]
[ENSMUST00000220521]
[ENSMUST00000222081]
[ENSMUST00000223172]
|
| AlphaFold |
L7N1Y3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071580
AA Change: S491G
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: S491G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
247 |
445 |
5e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220521
AA Change: S296G
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221884
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222081
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222391
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223172
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
T |
C |
7: 143,425,591 (GRCm39) |
V80A |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atg3 |
T |
A |
16: 44,995,624 (GRCm39) |
I119N |
probably benign |
Het |
| Cdh12 |
G |
C |
15: 21,358,842 (GRCm39) |
V89L |
probably damaging |
Het |
| Cdh3 |
C |
A |
8: 107,270,310 (GRCm39) |
H396N |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dab2ip |
C |
A |
2: 35,533,903 (GRCm39) |
S43* |
probably null |
Het |
| Dmxl2 |
A |
G |
9: 54,300,927 (GRCm39) |
S2394P |
probably benign |
Het |
| F13a1 |
T |
G |
13: 37,082,067 (GRCm39) |
N546H |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,194,814 (GRCm39) |
N1449S |
probably damaging |
Het |
| Flywch1 |
T |
C |
17: 23,979,175 (GRCm39) |
|
probably benign |
Het |
| Grxcr2 |
T |
A |
18: 42,131,883 (GRCm39) |
D62V |
probably damaging |
Het |
| H2bc8 |
T |
C |
13: 23,755,625 (GRCm39) |
|
probably benign |
Het |
| Ifnab |
A |
T |
4: 88,609,016 (GRCm39) |
I150N |
probably damaging |
Het |
| Igsf8 |
T |
C |
1: 172,145,336 (GRCm39) |
V284A |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,288,419 (GRCm39) |
E388G |
possibly damaging |
Het |
| Map3k8 |
G |
A |
18: 4,333,965 (GRCm39) |
R376C |
probably damaging |
Het |
| Map6 |
A |
T |
7: 98,918,402 (GRCm39) |
T189S |
possibly damaging |
Het |
| Mms22l |
T |
A |
4: 24,505,357 (GRCm39) |
S206T |
probably damaging |
Het |
| N4bp1 |
A |
G |
8: 87,578,337 (GRCm39) |
L676S |
probably damaging |
Het |
| Nkx6-2 |
A |
G |
7: 139,162,106 (GRCm39) |
F117S |
possibly damaging |
Het |
| Ociad2 |
C |
T |
5: 73,481,173 (GRCm39) |
C72Y |
probably damaging |
Het |
| Or10w1 |
T |
A |
19: 13,632,346 (GRCm39) |
C184* |
probably null |
Het |
| Or52e15 |
A |
T |
7: 104,645,191 (GRCm39) |
F307I |
probably benign |
Het |
| Pcdhb6 |
G |
T |
18: 37,469,193 (GRCm39) |
V21L |
probably damaging |
Het |
| Pogk |
G |
A |
1: 166,231,081 (GRCm39) |
T82I |
probably damaging |
Het |
| Prkcsh |
A |
G |
9: 21,922,548 (GRCm39) |
E283G |
probably null |
Het |
| Prkd3 |
C |
T |
17: 79,292,733 (GRCm39) |
R113H |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,240,961 (GRCm39) |
|
probably null |
Het |
| Rec8 |
T |
C |
14: 55,859,954 (GRCm39) |
I234T |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,857,432 (GRCm39) |
H394L |
probably benign |
Het |
| Thy1 |
A |
G |
9: 43,958,028 (GRCm39) |
E52G |
probably damaging |
Het |
| Trav14n-3 |
A |
T |
14: 53,607,543 (GRCm39) |
I4F |
probably damaging |
Het |
| Trim15 |
T |
C |
17: 37,177,768 (GRCm39) |
T76A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,599,145 (GRCm39) |
I19288T |
probably damaging |
Het |
| Vmn1r6 |
C |
T |
6: 56,979,920 (GRCm39) |
T172I |
probably damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,893,105 (GRCm39) |
L678Q |
probably damaging |
Het |
| Vpreb1a |
T |
C |
16: 16,686,668 (GRCm39) |
H74R |
probably benign |
Het |
| Yeats4 |
T |
C |
10: 117,056,273 (GRCm39) |
I100V |
probably benign |
Het |
| Zfp36 |
C |
A |
7: 28,077,681 (GRCm39) |
A76S |
probably benign |
Het |
|
| Other mutations in Pramel51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Pramel51
|
APN |
12 |
88,143,882 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01391:Pramel51
|
APN |
12 |
88,145,225 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01432:Pramel51
|
APN |
12 |
88,143,202 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01519:Pramel51
|
APN |
12 |
88,144,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01784:Pramel51
|
APN |
12 |
88,143,085 (GRCm39) |
missense |
probably benign |
|
|
IGL02121:Pramel51
|
APN |
12 |
88,145,242 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02728:Pramel51
|
APN |
12 |
88,142,792 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0336:Pramel51
|
UTSW |
12 |
88,144,961 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0554:Pramel51
|
UTSW |
12 |
88,144,328 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1279:Pramel51
|
UTSW |
12 |
88,142,650 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1832:Pramel51
|
UTSW |
12 |
88,145,218 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1833:Pramel51
|
UTSW |
12 |
88,145,218 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1900:Pramel51
|
UTSW |
12 |
88,144,030 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2412:Pramel51
|
UTSW |
12 |
88,143,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3040:Pramel51
|
UTSW |
12 |
88,145,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4078:Pramel51
|
UTSW |
12 |
88,142,683 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4270:Pramel51
|
UTSW |
12 |
88,145,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4271:Pramel51
|
UTSW |
12 |
88,145,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Pramel51
|
UTSW |
12 |
88,142,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5552:Pramel51
|
UTSW |
12 |
88,145,135 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5601:Pramel51
|
UTSW |
12 |
88,142,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5881:Pramel51
|
UTSW |
12 |
88,143,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Pramel51
|
UTSW |
12 |
88,142,683 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6058:Pramel51
|
UTSW |
12 |
88,143,995 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6488:Pramel51
|
UTSW |
12 |
88,144,357 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6656:Pramel51
|
UTSW |
12 |
88,142,763 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7307:Pramel51
|
UTSW |
12 |
88,148,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7332:Pramel51
|
UTSW |
12 |
88,143,187 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7544:Pramel51
|
UTSW |
12 |
88,142,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7569:Pramel51
|
UTSW |
12 |
88,143,085 (GRCm39) |
missense |
probably benign |
|
|
R7645:Pramel51
|
UTSW |
12 |
88,143,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Pramel51
|
UTSW |
12 |
88,142,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7855:Pramel51
|
UTSW |
12 |
88,142,853 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7860:Pramel51
|
UTSW |
12 |
88,143,122 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8113:Pramel51
|
UTSW |
12 |
88,143,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8356:Pramel51
|
UTSW |
12 |
88,143,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8456:Pramel51
|
UTSW |
12 |
88,143,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8921:Pramel51
|
UTSW |
12 |
88,143,952 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8953:Pramel51
|
UTSW |
12 |
88,144,070 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9112:Pramel51
|
UTSW |
12 |
88,144,055 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9546:Pramel51
|
UTSW |
12 |
88,148,651 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTACAGATGCAACATCCATTCAC -3'
(R):5'- GCCTTTCTTGAAACAACTTCTACAC -3'
Sequencing Primer
(F):5'- TCACCAGCTCAGAGGAAGTTATTGAC -3'
(R):5'- TTCTTGAAACAACTTCTACACCACAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation