Incidental Mutation 'IGL00485:Pramel31'
ID |
6531 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pramel31
|
Ensembl Gene |
ENSMUSG00000070619 |
Gene Name |
PRAME like 31 |
Synonyms |
Gm13119 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00485
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
144084534-144090989 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 144090012 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 351
(V351I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092103
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094526]
|
AlphaFold |
B1ARV5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094526
AA Change: V351I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000092103 Gene: ENSMUSG00000070619 AA Change: V351I
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
210 |
414 |
3e-10 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap23 |
G |
A |
11: 97,383,497 (GRCm39) |
|
probably benign |
Het |
Arhgef37 |
G |
A |
18: 61,656,942 (GRCm39) |
T41I |
probably damaging |
Het |
Brms1 |
A |
C |
19: 5,099,070 (GRCm39) |
|
probably benign |
Het |
Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
Col4a2 |
A |
G |
8: 11,489,012 (GRCm39) |
M1133V |
probably benign |
Het |
Ctps1 |
T |
C |
4: 120,410,141 (GRCm39) |
Y314C |
probably damaging |
Het |
Defa30 |
T |
A |
8: 21,625,467 (GRCm39) |
M77K |
probably benign |
Het |
Eif3a |
T |
C |
19: 60,758,328 (GRCm39) |
R817G |
unknown |
Het |
Entrep1 |
G |
A |
19: 23,962,086 (GRCm39) |
R306W |
probably damaging |
Het |
Ftdc2 |
A |
G |
16: 58,455,854 (GRCm39) |
Y140H |
probably damaging |
Het |
Greb1l |
A |
G |
18: 10,555,962 (GRCm39) |
S1725G |
possibly damaging |
Het |
Hmgxb4 |
T |
C |
8: 75,756,131 (GRCm39) |
S545P |
probably damaging |
Het |
Hrob |
C |
T |
11: 102,146,783 (GRCm39) |
S353F |
possibly damaging |
Het |
Kif13b |
A |
G |
14: 65,002,522 (GRCm39) |
E1049G |
possibly damaging |
Het |
Mug1 |
T |
C |
6: 121,864,375 (GRCm39) |
V1424A |
probably benign |
Het |
Nlrp2 |
A |
G |
7: 5,340,547 (GRCm39) |
V89A |
probably benign |
Het |
Osbpl11 |
T |
G |
16: 33,062,115 (GRCm39) |
W741G |
probably damaging |
Het |
Pam |
A |
G |
1: 97,750,678 (GRCm39) |
V914A |
possibly damaging |
Het |
Phldb2 |
T |
A |
16: 45,577,551 (GRCm39) |
I1117F |
possibly damaging |
Het |
Pign |
A |
T |
1: 105,525,448 (GRCm39) |
L460* |
probably null |
Het |
Prdm10 |
A |
T |
9: 31,238,842 (GRCm39) |
I196F |
possibly damaging |
Het |
Stk36 |
T |
C |
1: 74,673,244 (GRCm39) |
S1044P |
probably benign |
Het |
Trim43b |
T |
C |
9: 88,973,695 (GRCm39) |
T13A |
probably benign |
Het |
Unc5b |
T |
C |
10: 60,618,995 (GRCm39) |
Y49C |
possibly damaging |
Het |
Urb2 |
T |
C |
8: 124,755,433 (GRCm39) |
I380T |
probably damaging |
Het |
Zfyve27 |
T |
A |
19: 42,171,872 (GRCm39) |
C229S |
probably benign |
Het |
|
Other mutations in Pramel31 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Pramel31
|
APN |
4 |
144,089,100 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01025:Pramel31
|
APN |
4 |
144,089,947 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01102:Pramel31
|
APN |
4 |
144,090,195 (GRCm39) |
missense |
probably benign |
0.08 |
IGL01631:Pramel31
|
APN |
4 |
144,089,015 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02228:Pramel31
|
APN |
4 |
144,089,231 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02708:Pramel31
|
APN |
4 |
144,089,983 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02827:Pramel31
|
APN |
4 |
144,090,331 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03398:Pramel31
|
APN |
4 |
144,090,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R0403:Pramel31
|
UTSW |
4 |
144,089,216 (GRCm39) |
missense |
probably benign |
0.00 |
R0627:Pramel31
|
UTSW |
4 |
144,089,416 (GRCm39) |
missense |
probably benign |
0.03 |
R0632:Pramel31
|
UTSW |
4 |
144,090,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R1783:Pramel31
|
UTSW |
4 |
144,088,295 (GRCm39) |
missense |
probably benign |
0.01 |
R1895:Pramel31
|
UTSW |
4 |
144,088,435 (GRCm39) |
missense |
probably benign |
0.11 |
R1946:Pramel31
|
UTSW |
4 |
144,088,435 (GRCm39) |
missense |
probably benign |
0.11 |
R2263:Pramel31
|
UTSW |
4 |
144,090,111 (GRCm39) |
missense |
probably benign |
0.00 |
R2389:Pramel31
|
UTSW |
4 |
144,089,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R2435:Pramel31
|
UTSW |
4 |
144,089,473 (GRCm39) |
missense |
possibly damaging |
0.75 |
R3013:Pramel31
|
UTSW |
4 |
144,089,025 (GRCm39) |
missense |
probably damaging |
0.98 |
R3021:Pramel31
|
UTSW |
4 |
144,088,369 (GRCm39) |
missense |
probably damaging |
0.99 |
R3106:Pramel31
|
UTSW |
4 |
144,088,246 (GRCm39) |
missense |
probably benign |
0.04 |
R5237:Pramel31
|
UTSW |
4 |
144,089,041 (GRCm39) |
nonsense |
probably null |
|
R5411:Pramel31
|
UTSW |
4 |
144,088,207 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R5532:Pramel31
|
UTSW |
4 |
144,090,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R6229:Pramel31
|
UTSW |
4 |
144,090,199 (GRCm39) |
missense |
probably benign |
0.03 |
R6277:Pramel31
|
UTSW |
4 |
144,090,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R6625:Pramel31
|
UTSW |
4 |
144,090,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R6717:Pramel31
|
UTSW |
4 |
144,089,227 (GRCm39) |
missense |
probably benign |
0.00 |
R7103:Pramel31
|
UTSW |
4 |
144,090,297 (GRCm39) |
missense |
probably benign |
0.00 |
R7207:Pramel31
|
UTSW |
4 |
144,088,473 (GRCm39) |
missense |
probably benign |
0.08 |
R8934:Pramel31
|
UTSW |
4 |
144,090,345 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9325:Pramel31
|
UTSW |
4 |
144,089,093 (GRCm39) |
missense |
probably benign |
|
R9411:Pramel31
|
UTSW |
4 |
144,089,997 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Pramel31
|
UTSW |
4 |
144,089,543 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Posted On |
2012-04-20 |