Incidental Mutation 'IGL02436:Pramel13'
| ID |
293276 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel13
|
| Ensembl Gene |
ENSMUSG00000028591 |
| Gene Name |
PRAME like 13 |
| Synonyms |
4930569K13Rik, Pramef12 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL02436
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
144118244-144135034 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 144119539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 343
(P343T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030326]
[ENSMUST00000123854]
|
| AlphaFold |
Q9D2F1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030326
AA Change: P343T
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000030326
Gene: ENSMUSG00000028591
AA Change: P343T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
223 |
414 |
7e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123854
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Carm1 |
A |
T |
9: 21,490,758 (GRCm39) |
R209W |
probably damaging |
Het |
| Clec4a2 |
A |
G |
6: 123,117,637 (GRCm39) |
D185G |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dyrk3 |
A |
G |
1: 131,056,602 (GRCm39) |
S524P |
probably benign |
Het |
| Gm17175 |
A |
T |
14: 51,807,108 (GRCm39) |
|
probably benign |
Het |
| Hdx |
A |
T |
X: 110,510,445 (GRCm39) |
D512E |
probably damaging |
Het |
| Hs6st2 |
T |
G |
X: 50,768,891 (GRCm39) |
T275P |
possibly damaging |
Het |
| Hus1 |
T |
C |
11: 8,956,057 (GRCm39) |
I159V |
possibly damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,389,003 (GRCm39) |
T2141A |
unknown |
Het |
| Ncoa7 |
A |
T |
10: 30,570,143 (GRCm39) |
I272N |
probably damaging |
Het |
| Or10ad1b |
G |
T |
15: 98,125,171 (GRCm39) |
C118* |
probably null |
Het |
| P3h2 |
T |
C |
16: 25,815,950 (GRCm39) |
K188E |
probably benign |
Het |
| Pcsk5 |
A |
G |
19: 17,542,072 (GRCm39) |
|
probably null |
Het |
| Scn1a |
G |
A |
2: 66,181,497 (GRCm39) |
P9S |
probably benign |
Het |
| Slc7a9 |
C |
A |
7: 35,156,478 (GRCm39) |
L307I |
probably benign |
Het |
| Srebf2 |
G |
A |
15: 82,081,928 (GRCm39) |
G87S |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tent5c |
C |
A |
3: 100,379,823 (GRCm39) |
R311L |
probably benign |
Het |
| Tex30 |
T |
C |
1: 44,127,665 (GRCm39) |
|
probably null |
Het |
| Thoc2l |
T |
A |
5: 104,669,021 (GRCm39) |
I1181K |
probably benign |
Het |
| Tnrc6a |
C |
T |
7: 122,783,438 (GRCm39) |
R970* |
probably null |
Het |
| Vgll2 |
A |
T |
10: 51,901,318 (GRCm39) |
R83* |
probably null |
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 |
|
|
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 |
|
R0005:Pramel13
|
UTSW |
4 |
144,122,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation