Incidental Mutation 'IGL01938:Pramel32'
| ID |
180771 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel32
|
| Ensembl Gene |
ENSMUSG00000038330 |
| Gene Name |
PRAME like 32 |
| Synonyms |
C87499 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.394)
|
| Stock # |
IGL01938
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
88545557-88552423 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88547600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 24
(S24P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138736
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053304]
[ENSMUST00000107142]
[ENSMUST00000107143]
[ENSMUST00000134155]
[ENSMUST00000156062]
|
| AlphaFold |
Q3UX49 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053304
|
| SMART Domains |
Protein: ENSMUSP00000056691
Gene: ENSMUSG00000038330
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
223 |
425 |
4e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107142
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107143
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134155
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156062
AA Change: S24P
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
C |
T |
5: 88,119,567 (GRCm39) |
T108I |
probably damaging |
Het |
| Adam34 |
A |
G |
8: 44,104,053 (GRCm39) |
Y531H |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 15,041,062 (GRCm39) |
N1077K |
probably benign |
Het |
| BC034090 |
G |
T |
1: 155,108,338 (GRCm39) |
|
probably null |
Het |
| Cachd1 |
A |
G |
4: 100,831,325 (GRCm39) |
I706V |
possibly damaging |
Het |
| Cebpz |
A |
T |
17: 79,242,390 (GRCm39) |
C421* |
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,705,614 (GRCm39) |
V699A |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,886,885 (GRCm39) |
N935S |
unknown |
Het |
| Dnah1 |
C |
T |
14: 31,005,844 (GRCm39) |
V2312I |
probably benign |
Het |
| Ebf3 |
T |
C |
7: 136,911,047 (GRCm39) |
T156A |
probably damaging |
Het |
| Ern1 |
A |
G |
11: 106,302,483 (GRCm39) |
V457A |
probably benign |
Het |
| Flii |
T |
C |
11: 60,605,942 (GRCm39) |
Y1177C |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,279,707 (GRCm39) |
K197M |
probably damaging |
Het |
| Glb1l3 |
A |
G |
9: 26,729,825 (GRCm39) |
F515S |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,603 (GRCm39) |
I1233T |
probably damaging |
Het |
| Kptn |
A |
G |
7: 15,858,714 (GRCm39) |
Y286C |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,812,009 (GRCm39) |
N807S |
possibly damaging |
Het |
| Mki67 |
C |
T |
7: 135,296,059 (GRCm39) |
V2992M |
probably benign |
Het |
| Myocd |
A |
G |
11: 65,077,914 (GRCm39) |
L627P |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,417,484 (GRCm39) |
I40T |
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,565,365 (GRCm39) |
T232A |
probably benign |
Het |
| Nipsnap1 |
C |
T |
11: 4,843,134 (GRCm39) |
H269Y |
probably benign |
Het |
| Nlrp4g |
G |
A |
9: 124,349,068 (GRCm38) |
|
noncoding transcript |
Het |
| Nup188 |
A |
T |
2: 30,219,371 (GRCm39) |
R862S |
probably benign |
Het |
| Or1e16 |
T |
A |
11: 73,286,471 (GRCm39) |
I126F |
probably damaging |
Het |
| Or4a80 |
G |
T |
2: 89,582,692 (GRCm39) |
A160D |
probably benign |
Het |
| Or6c33 |
T |
A |
10: 129,853,981 (GRCm39) |
Y250* |
probably null |
Het |
| Pde4c |
A |
T |
8: 71,202,027 (GRCm39) |
K549N |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,361,933 (GRCm39) |
T992A |
probably benign |
Het |
| Smyd2 |
A |
G |
1: 189,621,079 (GRCm39) |
V213A |
probably benign |
Het |
| Sult1c2 |
C |
T |
17: 54,138,954 (GRCm39) |
V208M |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,530,042 (GRCm39) |
L3277P |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,056,056 (GRCm39) |
V304A |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,528,676 (GRCm39) |
|
probably null |
Het |
| Zscan29 |
C |
T |
2: 120,996,690 (GRCm39) |
A344T |
probably benign |
Het |
|
| Other mutations in Pramel32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Pramel32
|
APN |
4 |
88,547,307 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL00229:Pramel32
|
APN |
4 |
88,547,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02321:Pramel32
|
APN |
4 |
88,548,340 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02351:Pramel32
|
APN |
4 |
88,546,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02358:Pramel32
|
APN |
4 |
88,546,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0005:Pramel32
|
UTSW |
4 |
88,546,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0521:Pramel32
|
UTSW |
4 |
88,547,559 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0578:Pramel32
|
UTSW |
4 |
88,552,376 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0600:Pramel32
|
UTSW |
4 |
88,547,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0750:Pramel32
|
UTSW |
4 |
88,545,905 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1483:Pramel32
|
UTSW |
4 |
88,547,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Pramel32
|
UTSW |
4 |
88,546,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1911:Pramel32
|
UTSW |
4 |
88,548,309 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2204:Pramel32
|
UTSW |
4 |
88,546,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2507:Pramel32
|
UTSW |
4 |
88,547,448 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2512:Pramel32
|
UTSW |
4 |
88,547,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4299:Pramel32
|
UTSW |
4 |
88,546,419 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4498:Pramel32
|
UTSW |
4 |
88,547,129 (GRCm39) |
splice site |
probably null |
|
|
R4656:Pramel32
|
UTSW |
4 |
88,548,202 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4787:Pramel32
|
UTSW |
4 |
88,547,450 (GRCm39) |
nonsense |
probably null |
|
|
R4823:Pramel32
|
UTSW |
4 |
88,547,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Pramel32
|
UTSW |
4 |
88,546,219 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4948:Pramel32
|
UTSW |
4 |
88,547,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Pramel32
|
UTSW |
4 |
88,547,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5229:Pramel32
|
UTSW |
4 |
88,548,372 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5426:Pramel32
|
UTSW |
4 |
88,547,647 (GRCm39) |
intron |
probably benign |
|
|
R5520:Pramel32
|
UTSW |
4 |
88,548,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5574:Pramel32
|
UTSW |
4 |
88,546,280 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5596:Pramel32
|
UTSW |
4 |
88,548,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6282:Pramel32
|
UTSW |
4 |
88,548,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6366:Pramel32
|
UTSW |
4 |
88,547,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6808:Pramel32
|
UTSW |
4 |
88,548,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6866:Pramel32
|
UTSW |
4 |
88,545,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7105:Pramel32
|
UTSW |
4 |
88,548,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7117:Pramel32
|
UTSW |
4 |
88,547,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7319:Pramel32
|
UTSW |
4 |
88,548,184 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7345:Pramel32
|
UTSW |
4 |
88,546,416 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7399:Pramel32
|
UTSW |
4 |
88,546,202 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7626:Pramel32
|
UTSW |
4 |
88,548,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Pramel32
|
UTSW |
4 |
88,547,356 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8044:Pramel32
|
UTSW |
4 |
88,548,212 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8849:Pramel32
|
UTSW |
4 |
88,546,014 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9334:Pramel32
|
UTSW |
4 |
88,548,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9515:Pramel32
|
UTSW |
4 |
88,546,219 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
RF012:Pramel32
|
UTSW |
4 |
88,546,006 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2014-05-07 |
Incidental Mutation