Incidental Mutation 'R9739:Pramel24'
| ID |
731754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel24
|
| Ensembl Gene |
ENSMUSG00000046435 |
| Gene Name |
PRAME like 24 |
| Synonyms |
Gm13078 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R9739 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143446025-143455728 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143454997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 432
(F432I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078695]
|
| AlphaFold |
A2AGW8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078695
AA Change: F432I
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077761
Gene: ENSMUSG00000046435
AA Change: F432I
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
204 |
412 |
4e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
T |
1: 25,592,849 (GRCm39) |
V313M |
probably damaging |
Het |
| Alg6 |
G |
A |
4: 99,650,195 (GRCm39) |
V472I |
possibly damaging |
Het |
| Atp8b2 |
A |
G |
3: 89,853,403 (GRCm39) |
V728A |
probably benign |
Het |
| Bach2 |
T |
A |
4: 32,563,042 (GRCm39) |
I503N |
probably damaging |
Het |
| Bend3 |
T |
C |
10: 43,385,847 (GRCm39) |
L80P |
possibly damaging |
Het |
| Casq1 |
T |
C |
1: 172,043,051 (GRCm39) |
D215G |
possibly damaging |
Het |
| Ccdc175 |
A |
T |
12: 72,186,792 (GRCm39) |
Y351N |
probably benign |
Het |
| Cd200r4 |
A |
T |
16: 44,641,142 (GRCm39) |
|
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,816,200 (GRCm39) |
D621G |
probably damaging |
Het |
| Esco1 |
T |
A |
18: 10,594,218 (GRCm39) |
H356L |
probably benign |
Het |
| Fhod1 |
C |
T |
8: 106,064,378 (GRCm39) |
V191M |
unknown |
Het |
| Fhod3 |
T |
C |
18: 24,903,566 (GRCm39) |
L100P |
probably damaging |
Het |
| Fkbp4 |
T |
C |
6: 128,410,728 (GRCm39) |
R234G |
probably benign |
Het |
| Flnb |
A |
T |
14: 7,935,954 (GRCm38) |
K2265* |
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,823,896 (GRCm39) |
F6543S |
possibly damaging |
Het |
| Fyb1 |
A |
G |
15: 6,670,063 (GRCm39) |
N594S |
probably benign |
Het |
| Gm17019 |
G |
A |
5: 15,082,841 (GRCm39) |
R38* |
probably null |
Het |
| Gm37240 |
A |
G |
3: 84,417,113 (GRCm39) |
|
probably null |
Het |
| Gm9195 |
C |
T |
14: 72,690,264 (GRCm39) |
D1820N |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,520,229 (GRCm39) |
V729A |
probably benign |
Het |
| Or8g21 |
G |
T |
9: 38,906,302 (GRCm39) |
S143* |
probably null |
Het |
| Or9s18 |
T |
C |
13: 65,300,442 (GRCm39) |
S135P |
probably damaging |
Het |
| Pde12 |
T |
C |
14: 26,386,757 (GRCm39) |
T584A |
possibly damaging |
Het |
| Pfkfb2 |
T |
C |
1: 130,624,815 (GRCm39) |
Q515R |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,420,708 (GRCm39) |
N2466S |
probably damaging |
Het |
| Plcd1 |
A |
G |
9: 118,901,195 (GRCm39) |
V720A |
possibly damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,513,189 (GRCm39) |
T285A |
probably benign |
Het |
| Scyl3 |
T |
C |
1: 163,771,419 (GRCm39) |
F255S |
probably damaging |
Het |
| Sfrp5 |
T |
A |
19: 42,188,247 (GRCm39) |
M191L |
probably benign |
Het |
| Snrpf |
C |
T |
10: 93,419,390 (GRCm39) |
C66Y |
probably benign |
Het |
| Syngr2 |
T |
A |
11: 117,703,298 (GRCm39) |
I38N |
probably damaging |
Het |
| Thap1 |
C |
T |
8: 26,650,990 (GRCm39) |
H87Y |
probably benign |
Het |
| Tubgcp3 |
A |
G |
8: 12,699,744 (GRCm39) |
Y370H |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,510,736 (GRCm39) |
N447I |
possibly damaging |
Het |
| Zfp532 |
C |
T |
18: 65,757,894 (GRCm39) |
T609M |
probably benign |
Het |
|
| Other mutations in Pramel24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00976:Pramel24
|
APN |
4 |
143,453,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01122:Pramel24
|
APN |
4 |
143,454,971 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02314:Pramel24
|
APN |
4 |
143,455,012 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03089:Pramel24
|
APN |
4 |
143,452,703 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL03338:Pramel24
|
APN |
4 |
143,453,312 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0233:Pramel24
|
UTSW |
4 |
143,452,633 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0233:Pramel24
|
UTSW |
4 |
143,452,633 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0349:Pramel24
|
UTSW |
4 |
143,453,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0681:Pramel24
|
UTSW |
4 |
143,454,622 (GRCm39) |
missense |
probably benign |
|
|
R0963:Pramel24
|
UTSW |
4 |
143,453,678 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1114:Pramel24
|
UTSW |
4 |
143,453,425 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2070:Pramel24
|
UTSW |
4 |
143,453,472 (GRCm39) |
nonsense |
probably null |
|
|
R2475:Pramel24
|
UTSW |
4 |
143,453,395 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3824:Pramel24
|
UTSW |
4 |
143,453,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4050:Pramel24
|
UTSW |
4 |
143,453,692 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4125:Pramel24
|
UTSW |
4 |
143,452,850 (GRCm39) |
nonsense |
probably null |
|
|
R4273:Pramel24
|
UTSW |
4 |
143,453,416 (GRCm39) |
nonsense |
probably null |
|
|
R4280:Pramel24
|
UTSW |
4 |
143,452,592 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4921:Pramel24
|
UTSW |
4 |
143,454,896 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5223:Pramel24
|
UTSW |
4 |
143,454,591 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7256:Pramel24
|
UTSW |
4 |
143,452,849 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7640:Pramel24
|
UTSW |
4 |
143,453,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7666:Pramel24
|
UTSW |
4 |
143,455,085 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7683:Pramel24
|
UTSW |
4 |
143,453,284 (GRCm39) |
nonsense |
probably null |
|
|
R7981:Pramel24
|
UTSW |
4 |
143,453,452 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8856:Pramel24
|
UTSW |
4 |
143,453,303 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9050:Pramel24
|
UTSW |
4 |
143,453,329 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9757:Pramel24
|
UTSW |
4 |
143,454,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Pramel24
|
UTSW |
4 |
143,453,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTAAGCTCATGGACTGGC -3'
(R):5'- ATGAGTCACTTGAGACCTGC -3'
Sequencing Primer
(F):5'- CTGTAAGCTCATGGACTGGCAAATC -3'
(R):5'- GAGACCTGCCTTCCATTTGTTAGAAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation