Incidental Mutation 'IGL01765:Pramel17'
| ID |
153305 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pramel17
|
| Ensembl Gene |
ENSMUSG00000035201 |
| Gene Name |
PRAME like 17 |
| Synonyms |
B020004J07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01765
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
101692166-101701219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101695049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 87
(I87M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084386]
[ENSMUST00000106919]
|
| AlphaFold |
Q3UTC0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084386
AA Change: I87M
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000081421
Gene: ENSMUSG00000035201
AA Change: I87M
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
219 |
405 |
2e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106919
AA Change: I87M
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000102532
Gene: ENSMUSG00000035201
AA Change: I87M
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
219 |
405 |
2e-10 |
SMART |
|
| 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 |
|---|
| Adgrf2 |
A |
T |
17: 43,030,426 (GRCm39) |
M11K |
probably benign |
Het |
| Agap2 |
T |
C |
10: 126,919,104 (GRCm39) |
V442A |
unknown |
Het |
| Cdh20 |
C |
T |
1: 109,988,836 (GRCm39) |
T246I |
probably damaging |
Het |
| Creb3l1 |
T |
C |
2: 91,854,446 (GRCm39) |
D2G |
possibly damaging |
Het |
| Dicer1 |
G |
A |
12: 104,672,999 (GRCm39) |
R811C |
probably damaging |
Het |
| Drosha |
C |
A |
15: 12,902,766 (GRCm39) |
A1012E |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,730,082 (GRCm39) |
I896T |
probably damaging |
Het |
| Fastkd5 |
T |
C |
2: 130,457,654 (GRCm39) |
Y312C |
possibly damaging |
Het |
| Flt3 |
A |
G |
5: 147,294,788 (GRCm39) |
F428L |
probably benign |
Het |
| Hrh4 |
G |
A |
18: 13,140,252 (GRCm39) |
R49Q |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,433,108 (GRCm39) |
T1408A |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,400,913 (GRCm39) |
E132G |
probably damaging |
Het |
| Ltf |
T |
C |
9: 110,851,085 (GRCm39) |
V99A |
possibly damaging |
Het |
| Mettl13 |
A |
T |
1: 162,366,522 (GRCm39) |
D452E |
probably benign |
Het |
| Ndufa7 |
G |
T |
17: 34,048,786 (GRCm39) |
E83* |
probably null |
Het |
| Nmrk1 |
C |
T |
19: 18,616,902 (GRCm39) |
T17M |
probably damaging |
Het |
| Ntsr1 |
A |
G |
2: 180,180,510 (GRCm39) |
E272G |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,006,610 (GRCm39) |
K1184R |
possibly damaging |
Het |
| Or10z1 |
T |
G |
1: 174,077,703 (GRCm39) |
K263N |
probably damaging |
Het |
| Or11j4 |
A |
T |
14: 50,630,291 (GRCm39) |
Q26L |
probably benign |
Het |
| Or1e21 |
A |
C |
11: 73,344,303 (GRCm39) |
L245R |
probably damaging |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or4a68 |
C |
T |
2: 89,270,144 (GRCm39) |
V160I |
probably benign |
Het |
| Or7e170 |
A |
T |
9: 19,795,247 (GRCm39) |
M118K |
possibly damaging |
Het |
| Pcdhb10 |
A |
G |
18: 37,547,072 (GRCm39) |
K716R |
probably benign |
Het |
| Phldb3 |
A |
G |
7: 24,316,800 (GRCm39) |
D267G |
possibly damaging |
Het |
| Plcb2 |
T |
A |
2: 118,540,749 (GRCm39) |
|
probably benign |
Het |
| Pusl1 |
A |
G |
4: 155,974,170 (GRCm39) |
F219L |
probably damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,599,177 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,704,261 (GRCm39) |
D228E |
probably benign |
Het |
| Rnf213 |
A |
T |
11: 119,327,178 (GRCm39) |
M1723L |
probably benign |
Het |
| Sc5d |
A |
G |
9: 42,167,464 (GRCm39) |
F128S |
probably damaging |
Het |
| Sco1 |
T |
C |
11: 66,944,616 (GRCm39) |
S80P |
probably damaging |
Het |
| Supt16 |
C |
T |
14: 52,417,680 (GRCm39) |
R278H |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,112,985 (GRCm39) |
I986T |
probably benign |
Het |
| Trio |
A |
G |
15: 27,764,112 (GRCm39) |
V860A |
possibly damaging |
Het |
| Uck1 |
A |
G |
2: 32,148,688 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,552,788 (GRCm39) |
T823A |
probably benign |
Het |
|
| Other mutations in Pramel17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01083:Pramel17
|
APN |
4 |
101,692,729 (GRCm39) |
missense |
probably benign |
|
|
IGL01615:Pramel17
|
APN |
4 |
101,694,201 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02228:Pramel17
|
APN |
4 |
101,694,055 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02276:Pramel17
|
APN |
4 |
101,695,306 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02548:Pramel17
|
APN |
4 |
101,692,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03226:Pramel17
|
APN |
4 |
101,692,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0124:Pramel17
|
UTSW |
4 |
101,692,570 (GRCm39) |
makesense |
probably null |
|
|
R0449:Pramel17
|
UTSW |
4 |
101,694,158 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0573:Pramel17
|
UTSW |
4 |
101,692,611 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1159:Pramel17
|
UTSW |
4 |
101,695,224 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1689:Pramel17
|
UTSW |
4 |
101,694,376 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1857:Pramel17
|
UTSW |
4 |
101,692,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Pramel17
|
UTSW |
4 |
101,694,135 (GRCm39) |
missense |
probably benign |
|
|
R2570:Pramel17
|
UTSW |
4 |
101,694,443 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3886:Pramel17
|
UTSW |
4 |
101,692,920 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4922:Pramel17
|
UTSW |
4 |
101,692,729 (GRCm39) |
missense |
probably benign |
|
|
R4984:Pramel17
|
UTSW |
4 |
101,692,796 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5503:Pramel17
|
UTSW |
4 |
101,692,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6230:Pramel17
|
UTSW |
4 |
101,694,411 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6831:Pramel17
|
UTSW |
4 |
101,694,094 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7172:Pramel17
|
UTSW |
4 |
101,694,193 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7201:Pramel17
|
UTSW |
4 |
101,695,338 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7220:Pramel17
|
UTSW |
4 |
101,694,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7253:Pramel17
|
UTSW |
4 |
101,692,725 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7545:Pramel17
|
UTSW |
4 |
101,695,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7567:Pramel17
|
UTSW |
4 |
101,694,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7763:Pramel17
|
UTSW |
4 |
101,694,338 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8003:Pramel17
|
UTSW |
4 |
101,693,130 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8005:Pramel17
|
UTSW |
4 |
101,694,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8836:Pramel17
|
UTSW |
4 |
101,693,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9125:Pramel17
|
UTSW |
4 |
101,694,073 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9332:Pramel17
|
UTSW |
4 |
101,695,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9545:Pramel17
|
UTSW |
4 |
101,693,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9733:Pramel17
|
UTSW |
4 |
101,692,965 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9775:Pramel17
|
UTSW |
4 |
101,694,244 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2014-02-04 |
Incidental Mutation