Incidental Mutation 'IGL01784:Pramel51'
| ID |
154234 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel51
|
| Ensembl Gene |
ENSMUSG00000066027 |
| Gene Name |
PRAME like 51 |
| Synonyms |
Gm10436 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL01784
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
88142359-88148664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88143085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 178
(Y178H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071580]
[ENSMUST00000220521]
[ENSMUST00000222081]
[ENSMUST00000223172]
|
| AlphaFold |
L7N1Y3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071580
AA Change: Y373H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: Y373H
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
247 |
445 |
5e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220521
AA Change: Y178H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221884
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222081
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222391
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223172
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,771,445 (GRCm39) |
P309L |
possibly damaging |
Het |
| Abca4 |
A |
T |
3: 121,932,154 (GRCm39) |
K269N |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,854,399 (GRCm39) |
T839A |
probably benign |
Het |
| Adcy7 |
A |
G |
8: 89,040,751 (GRCm39) |
D30G |
probably damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,971,217 (GRCm39) |
I149T |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,630,247 (GRCm39) |
D199G |
probably damaging |
Het |
| Cplx3 |
T |
C |
9: 57,527,847 (GRCm39) |
Y36C |
probably damaging |
Het |
| Ddo |
A |
G |
10: 40,507,784 (GRCm39) |
|
probably benign |
Het |
| Ensa |
T |
A |
3: 95,535,844 (GRCm39) |
|
probably benign |
Het |
| Etnppl |
A |
G |
3: 130,425,427 (GRCm39) |
I405V |
possibly damaging |
Het |
| Fam171b |
T |
A |
2: 83,710,031 (GRCm39) |
L568M |
possibly damaging |
Het |
| Fmn2 |
A |
G |
1: 174,329,994 (GRCm39) |
D128G |
unknown |
Het |
| Fra10ac1 |
T |
A |
19: 38,208,125 (GRCm39) |
H43L |
probably benign |
Het |
| Gm7589 |
T |
C |
9: 59,053,310 (GRCm39) |
|
noncoding transcript |
Het |
| Gsx1 |
A |
G |
5: 147,126,939 (GRCm39) |
D254G |
probably benign |
Het |
| Hoxb6 |
A |
G |
11: 96,191,639 (GRCm39) |
E187G |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,518,524 (GRCm39) |
I2385N |
probably damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,290 (GRCm39) |
C171S |
probably benign |
Het |
| Mccc1 |
T |
G |
3: 36,030,897 (GRCm39) |
N390H |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,403,373 (GRCm39) |
|
probably benign |
Het |
| Nfic |
T |
C |
10: 81,241,982 (GRCm39) |
D364G |
possibly damaging |
Het |
| Niban1 |
T |
A |
1: 151,525,116 (GRCm39) |
Y174N |
probably damaging |
Het |
| Npy |
A |
G |
6: 49,806,314 (GRCm39) |
|
probably benign |
Het |
| Or6c8 |
C |
T |
10: 128,915,224 (GRCm39) |
V203M |
probably benign |
Het |
| Osbpl3 |
A |
G |
6: 50,321,902 (GRCm39) |
S75P |
probably damaging |
Het |
| Plekhg4 |
G |
T |
8: 106,105,589 (GRCm39) |
A685S |
probably damaging |
Het |
| Prss53 |
T |
C |
7: 127,485,724 (GRCm39) |
T539A |
probably benign |
Het |
| Rnf43 |
T |
A |
11: 87,622,632 (GRCm39) |
S537T |
possibly damaging |
Het |
| Rpgrip1l |
G |
A |
8: 91,997,089 (GRCm39) |
T597I |
possibly damaging |
Het |
| Rtn4 |
C |
A |
11: 29,657,291 (GRCm39) |
Q482K |
probably damaging |
Het |
| Sema3g |
T |
C |
14: 30,944,924 (GRCm39) |
I349T |
probably damaging |
Het |
| Sh3gl1 |
A |
C |
17: 56,326,325 (GRCm39) |
S108A |
possibly damaging |
Het |
| Tmc7 |
A |
T |
7: 118,146,538 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
G |
A |
1: 36,854,564 (GRCm39) |
T131I |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 111,397,800 (GRCm39) |
L505P |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,919,439 (GRCm39) |
Q231R |
unknown |
Het |
| Wnt7a |
A |
G |
6: 91,342,839 (GRCm39) |
C348R |
probably damaging |
Het |
| Zkscan6 |
T |
A |
11: 65,705,547 (GRCm39) |
L86Q |
probably damaging |
Het |
|
| Other mutations in Pramel51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Pramel51
|
APN |
12 |
88,143,882 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01391:Pramel51
|
APN |
12 |
88,145,225 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01432:Pramel51
|
APN |
12 |
88,143,202 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01519:Pramel51
|
APN |
12 |
88,144,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02121:Pramel51
|
APN |
12 |
88,145,242 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02728:Pramel51
|
APN |
12 |
88,142,792 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0336:Pramel51
|
UTSW |
12 |
88,144,961 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0554:Pramel51
|
UTSW |
12 |
88,144,328 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1279:Pramel51
|
UTSW |
12 |
88,142,650 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1832:Pramel51
|
UTSW |
12 |
88,145,218 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1833:Pramel51
|
UTSW |
12 |
88,145,218 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1900:Pramel51
|
UTSW |
12 |
88,144,030 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2412:Pramel51
|
UTSW |
12 |
88,143,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3040:Pramel51
|
UTSW |
12 |
88,145,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3625:Pramel51
|
UTSW |
12 |
88,142,731 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4078:Pramel51
|
UTSW |
12 |
88,142,683 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4270:Pramel51
|
UTSW |
12 |
88,145,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4271:Pramel51
|
UTSW |
12 |
88,145,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Pramel51
|
UTSW |
12 |
88,142,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5552:Pramel51
|
UTSW |
12 |
88,145,135 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5601:Pramel51
|
UTSW |
12 |
88,142,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5881:Pramel51
|
UTSW |
12 |
88,143,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Pramel51
|
UTSW |
12 |
88,142,683 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6058:Pramel51
|
UTSW |
12 |
88,143,995 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6488:Pramel51
|
UTSW |
12 |
88,144,357 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6656:Pramel51
|
UTSW |
12 |
88,142,763 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7307:Pramel51
|
UTSW |
12 |
88,148,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7332:Pramel51
|
UTSW |
12 |
88,143,187 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7544:Pramel51
|
UTSW |
12 |
88,142,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7569:Pramel51
|
UTSW |
12 |
88,143,085 (GRCm39) |
missense |
probably benign |
|
|
R7645:Pramel51
|
UTSW |
12 |
88,143,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Pramel51
|
UTSW |
12 |
88,142,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7855:Pramel51
|
UTSW |
12 |
88,142,853 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7860:Pramel51
|
UTSW |
12 |
88,143,122 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8113:Pramel51
|
UTSW |
12 |
88,143,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8356:Pramel51
|
UTSW |
12 |
88,143,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8456:Pramel51
|
UTSW |
12 |
88,143,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8921:Pramel51
|
UTSW |
12 |
88,143,952 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8953:Pramel51
|
UTSW |
12 |
88,144,070 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9112:Pramel51
|
UTSW |
12 |
88,144,055 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9546:Pramel51
|
UTSW |
12 |
88,148,651 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation