Incidental Mutation 'IGL02148:Pramel25'
| ID |
281841 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel25
|
| Ensembl Gene |
ENSMUSG00000066031 |
| Gene Name |
PRAME like 25 |
| Synonyms |
MGC:91194, Gm13023 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL02148
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
143515922-143522145 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143519304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 22
(Y22N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085144]
[ENSMUST00000105770]
[ENSMUST00000149739]
|
| AlphaFold |
A2A8N2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085144
AA Change: Y22N
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000082232
Gene: ENSMUSG00000066031
AA Change: Y22N
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
222 |
420 |
3e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105770
AA Change: Y22N
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139978
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149739
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
C |
T |
4: 63,300,716 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
T |
C |
4: 126,733,469 (GRCm39) |
V663A |
possibly damaging |
Het |
| Cdh13 |
A |
G |
8: 119,925,697 (GRCm39) |
D355G |
probably damaging |
Het |
| Cdyl2 |
A |
G |
8: 117,315,983 (GRCm39) |
|
probably benign |
Het |
| Csnk1g3 |
C |
T |
18: 54,086,360 (GRCm39) |
R422C |
probably benign |
Het |
| Dclk1 |
T |
A |
3: 55,407,520 (GRCm39) |
V233D |
probably damaging |
Het |
| Ddx59 |
T |
C |
1: 136,361,565 (GRCm39) |
S477P |
probably damaging |
Het |
| Epb41l1 |
A |
T |
2: 156,353,748 (GRCm39) |
|
probably benign |
Het |
| Epha2 |
T |
C |
4: 141,045,835 (GRCm39) |
L453P |
probably damaging |
Het |
| Esco2 |
T |
C |
14: 66,064,044 (GRCm39) |
H380R |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,669,298 (GRCm39) |
M51V |
probably benign |
Het |
| Fgb |
T |
C |
3: 82,950,594 (GRCm39) |
M387V |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,233,302 (GRCm39) |
L1522S |
probably benign |
Het |
| Gdf9 |
T |
A |
11: 53,327,569 (GRCm39) |
M175K |
probably benign |
Het |
| Gm20547 |
C |
T |
17: 35,079,524 (GRCm39) |
D243N |
probably benign |
Het |
| Gramd1b |
T |
A |
9: 40,227,060 (GRCm39) |
D299V |
probably damaging |
Het |
| Gsg1l |
G |
T |
7: 125,522,671 (GRCm39) |
Q186K |
possibly damaging |
Het |
| H2bl1 |
A |
T |
13: 99,120,691 (GRCm39) |
F112I |
probably damaging |
Het |
| Katnip |
A |
T |
7: 125,472,648 (GRCm39) |
|
probably null |
Het |
| Kcnh5 |
A |
G |
12: 74,944,426 (GRCm39) |
L941P |
possibly damaging |
Het |
| Lrrc8d |
A |
G |
5: 105,960,253 (GRCm39) |
D221G |
possibly damaging |
Het |
| Med19 |
T |
C |
2: 84,515,603 (GRCm39) |
F96L |
probably damaging |
Het |
| Mei1 |
C |
A |
15: 81,976,912 (GRCm39) |
S589* |
probably null |
Het |
| Myh15 |
G |
T |
16: 48,936,678 (GRCm39) |
D708Y |
probably damaging |
Het |
| Naca |
C |
T |
10: 127,879,753 (GRCm39) |
|
probably benign |
Het |
| Or5d43 |
A |
T |
2: 88,104,566 (GRCm39) |
Y276N |
possibly damaging |
Het |
| Otog |
G |
A |
7: 45,950,011 (GRCm39) |
C306Y |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,607,369 (GRCm39) |
K1279E |
probably damaging |
Het |
| Pkd1 |
C |
T |
17: 24,798,810 (GRCm39) |
T369I |
probably damaging |
Het |
| Plekha8 |
A |
G |
6: 54,592,271 (GRCm39) |
S32G |
probably damaging |
Het |
| Sema4g |
A |
G |
19: 44,984,908 (GRCm39) |
T113A |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Sh3rf3 |
T |
C |
10: 58,922,562 (GRCm39) |
M546T |
probably benign |
Het |
| Slc27a5 |
A |
G |
7: 12,728,878 (GRCm39) |
V328A |
probably damaging |
Het |
| Spef1 |
T |
C |
2: 131,014,688 (GRCm39) |
N78S |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,555,388 (GRCm39) |
T179A |
probably damaging |
Het |
| Tmc5 |
T |
C |
7: 118,244,547 (GRCm39) |
I475T |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,400,488 (GRCm38) |
Y621C |
probably damaging |
Het |
| Ttf1 |
T |
C |
2: 28,969,438 (GRCm39) |
F727L |
probably benign |
Het |
| Tufm |
T |
C |
7: 126,088,332 (GRCm39) |
L75P |
probably damaging |
Het |
| Ugt1a2 |
T |
A |
1: 88,128,796 (GRCm39) |
D146E |
probably damaging |
Het |
| Usp15 |
G |
A |
10: 122,963,742 (GRCm39) |
T533I |
probably damaging |
Het |
| Vmn1r113 |
A |
G |
7: 20,521,747 (GRCm39) |
T180A |
probably benign |
Het |
| Vmn1r205 |
G |
T |
13: 22,776,395 (GRCm39) |
P236T |
probably damaging |
Het |
| Vmn2r112 |
T |
G |
17: 22,838,013 (GRCm39) |
C825G |
probably damaging |
Het |
| Zfp712 |
T |
A |
13: 67,190,222 (GRCm39) |
I102F |
probably damaging |
Het |
|
| Other mutations in Pramel25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00905:Pramel25
|
APN |
4 |
143,521,844 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01621:Pramel25
|
APN |
4 |
143,520,502 (GRCm39) |
missense |
probably benign |
|
|
IGL01777:Pramel25
|
APN |
4 |
143,521,688 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02075:Pramel25
|
APN |
4 |
143,521,602 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02098:Pramel25
|
APN |
4 |
143,520,248 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02355:Pramel25
|
APN |
4 |
143,519,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Pramel25
|
APN |
4 |
143,519,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02828:Pramel25
|
APN |
4 |
143,521,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03102:Pramel25
|
APN |
4 |
143,520,116 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03234:Pramel25
|
APN |
4 |
143,521,506 (GRCm39) |
missense |
probably benign |
0.33 |
|
BB004:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
|
BB014:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
|
K3955:Pramel25
|
UTSW |
4 |
143,521,710 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0054:Pramel25
|
UTSW |
4 |
143,521,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0637:Pramel25
|
UTSW |
4 |
143,520,479 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1227:Pramel25
|
UTSW |
4 |
143,520,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1370:Pramel25
|
UTSW |
4 |
143,521,874 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1709:Pramel25
|
UTSW |
4 |
143,520,116 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1982:Pramel25
|
UTSW |
4 |
143,521,720 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2292:Pramel25
|
UTSW |
4 |
143,520,446 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3087:Pramel25
|
UTSW |
4 |
143,520,416 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4235:Pramel25
|
UTSW |
4 |
143,521,344 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4454:Pramel25
|
UTSW |
4 |
143,519,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4504:Pramel25
|
UTSW |
4 |
143,520,553 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4937:Pramel25
|
UTSW |
4 |
143,520,407 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5041:Pramel25
|
UTSW |
4 |
143,520,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5379:Pramel25
|
UTSW |
4 |
143,521,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5399:Pramel25
|
UTSW |
4 |
143,521,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5445:Pramel25
|
UTSW |
4 |
143,521,707 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6059:Pramel25
|
UTSW |
4 |
143,520,550 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6885:Pramel25
|
UTSW |
4 |
143,520,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7846:Pramel25
|
UTSW |
4 |
143,520,563 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7927:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8285:Pramel25
|
UTSW |
4 |
143,520,636 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8840:Pramel25
|
UTSW |
4 |
143,521,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8849:Pramel25
|
UTSW |
4 |
143,521,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8921:Pramel25
|
UTSW |
4 |
143,519,322 (GRCm39) |
nonsense |
probably null |
|
|
R9128:Pramel25
|
UTSW |
4 |
143,520,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9232:Pramel25
|
UTSW |
4 |
143,520,263 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9643:Pramel25
|
UTSW |
4 |
143,521,855 (GRCm39) |
nonsense |
probably null |
|
|
R9674:Pramel25
|
UTSW |
4 |
143,520,162 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Pramel25
|
UTSW |
4 |
143,521,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation