Incidental Mutation 'R0005:Pramel13'
| ID |
201300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel13
|
| Ensembl Gene |
ENSMUSG00000028591 |
| Gene Name |
PRAME like 13 |
| Synonyms |
4930569K13Rik, Pramef12 |
| MMRRC Submission |
038301-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R0005 (G1)
|
| Quality Score |
56 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
144118244-144135034 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 144122423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 40
(F40L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030326]
[ENSMUST00000123854]
|
| AlphaFold |
Q9D2F1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030326
AA Change: F40L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030326
Gene: ENSMUSG00000028591
AA Change: F40L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
223 |
414 |
7e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123854
AA Change: F40L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.3831 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
A |
G |
7: 126,097,446 (GRCm39) |
F201L |
probably damaging |
Het |
| Camsap3 |
T |
A |
8: 3,654,288 (GRCm39) |
F653I |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,789,584 (GRCm39) |
T595A |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,281,853 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,143,637 (GRCm39) |
T442A |
probably benign |
Het |
| Cpsf1 |
A |
G |
15: 76,484,880 (GRCm39) |
|
probably null |
Het |
| Enpp4 |
T |
C |
17: 44,413,066 (GRCm39) |
N156S |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,874,162 (GRCm39) |
N3485I |
probably damaging |
Het |
| Gabra2 |
C |
T |
5: 71,130,779 (GRCm39) |
V350I |
probably benign |
Het |
| H2-T5 |
G |
T |
17: 36,473,084 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,004,493 (GRCm39) |
T364A |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,266,384 (GRCm39) |
V402E |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,812,440 (GRCm39) |
D959G |
probably benign |
Het |
| Mag |
T |
A |
7: 30,607,779 (GRCm39) |
|
probably benign |
Het |
| Map3k1 |
A |
G |
13: 111,892,238 (GRCm39) |
F1006L |
probably benign |
Het |
| Mapre2 |
G |
A |
18: 23,986,750 (GRCm39) |
G54D |
probably damaging |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Myadm |
C |
T |
7: 3,346,080 (GRCm39) |
Q281* |
probably null |
Het |
| Mylk3 |
A |
T |
8: 86,053,832 (GRCm39) |
V625D |
possibly damaging |
Het |
| Nlrp9a |
T |
C |
7: 26,273,213 (GRCm39) |
|
probably benign |
Het |
| Or8d6 |
A |
G |
9: 39,854,252 (GRCm39) |
D232G |
probably benign |
Het |
| Plcz1 |
T |
A |
6: 139,986,290 (GRCm39) |
|
probably benign |
Het |
| Plekhg5 |
TCCCCC |
TCC |
4: 152,197,108 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
A |
C |
17: 84,893,861 (GRCm39) |
D892A |
probably benign |
Het |
| Ppih |
A |
G |
4: 119,175,798 (GRCm39) |
|
probably benign |
Het |
| Rtn4ip1 |
A |
T |
10: 43,808,474 (GRCm39) |
M84L |
probably benign |
Het |
| Slc35f4 |
G |
A |
14: 49,559,943 (GRCm39) |
|
probably benign |
Het |
| Spocd1 |
G |
T |
4: 129,850,571 (GRCm39) |
D866Y |
possibly damaging |
Het |
| Stxbp4 |
C |
T |
11: 90,439,743 (GRCm39) |
R365Q |
possibly damaging |
Het |
| Tmed4 |
C |
T |
11: 6,221,781 (GRCm39) |
R185H |
probably damaging |
Het |
| Tnfsf9 |
T |
C |
17: 57,414,236 (GRCm39) |
V221A |
possibly damaging |
Het |
| Trappc14 |
T |
C |
5: 138,260,916 (GRCm39) |
|
probably null |
Het |
| Vsx2 |
C |
A |
12: 84,617,015 (GRCm39) |
P100Q |
possibly damaging |
Het |
| Wdr48 |
T |
A |
9: 119,738,500 (GRCm39) |
D53E |
probably benign |
Het |
| Zfp335 |
T |
A |
2: 164,751,222 (GRCm39) |
S115C |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 55,028,592 (GRCm39) |
P1274S |
possibly damaging |
Het |
|
| Other mutations in Pramel13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Pramel13
|
APN |
4 |
144,121,310 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01107:Pramel13
|
APN |
4 |
144,119,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01935:Pramel13
|
APN |
4 |
144,119,172 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02436:Pramel13
|
APN |
4 |
144,119,539 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02491:Pramel13
|
APN |
4 |
144,121,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02744:Pramel13
|
APN |
4 |
144,119,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03338:Pramel13
|
APN |
4 |
144,121,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1401:Pramel13
|
UTSW |
4 |
144,121,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1611:Pramel13
|
UTSW |
4 |
144,119,382 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1667:Pramel13
|
UTSW |
4 |
144,119,606 (GRCm39) |
nonsense |
probably null |
|
|
R2017:Pramel13
|
UTSW |
4 |
144,121,244 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2290:Pramel13
|
UTSW |
4 |
144,121,692 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2290:Pramel13
|
UTSW |
4 |
144,121,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2310:Pramel13
|
UTSW |
4 |
144,119,475 (GRCm39) |
splice site |
probably null |
|
|
R2912:Pramel13
|
UTSW |
4 |
144,119,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2913:Pramel13
|
UTSW |
4 |
144,119,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4558:Pramel13
|
UTSW |
4 |
144,122,542 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R5162:Pramel13
|
UTSW |
4 |
144,121,482 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5521:Pramel13
|
UTSW |
4 |
144,122,541 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R5530:Pramel13
|
UTSW |
4 |
144,119,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5669:Pramel13
|
UTSW |
4 |
144,122,413 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6032:Pramel13
|
UTSW |
4 |
144,119,598 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6032:Pramel13
|
UTSW |
4 |
144,119,598 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6314:Pramel13
|
UTSW |
4 |
144,121,157 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6322:Pramel13
|
UTSW |
4 |
144,119,475 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6431:Pramel13
|
UTSW |
4 |
144,119,653 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7729:Pramel13
|
UTSW |
4 |
144,119,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Pramel13
|
UTSW |
4 |
144,122,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8778:Pramel13
|
UTSW |
4 |
144,119,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Pramel13
|
UTSW |
4 |
144,122,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1187:Pramel13
|
UTSW |
4 |
144,122,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAATGGTCCAATGGCCTGTG -3'
(R):5'- ATCCAAGGCAGATCAGTGGCTGTG -3'
Sequencing Primer
(F):5'- GTCCAATGGCCTGTGAAATC -3'
(R):5'- GAGAAGGACTTCTTAATCCGTGACC -3'
|
| Posted On |
2014-05-28 |
Incidental Mutation