Incidental Mutation 'IGL01788:Pmel'
| ID |
155118 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pmel
|
| Ensembl Gene |
ENSMUSG00000025359 |
| Gene Name |
premelanosome protein |
| Synonyms |
D10H12S53E, gp87, Si, gp100, Pmel17, D12S53Eh |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01788
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128540064-128556107 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 128553701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 445
(R445Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026414]
[ENSMUST00000054125]
[ENSMUST00000217836]
[ENSMUST00000219157]
[ENSMUST00000219834]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026414
|
| SMART Domains |
Protein: ENSMUSP00000026414
Gene: ENSMUSG00000025357
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAG_kinase_N
|
4 |
93 |
6.9e-31 |
PFAM |
|
EFh
|
115 |
143 |
3.82e0 |
SMART |
|
EFh
|
160 |
188 |
1.29e-4 |
SMART |
|
C1
|
207 |
254 |
2.29e-10 |
SMART |
|
C1
|
269 |
320 |
6.91e-5 |
SMART |
|
DAGKc
|
372 |
495 |
3.11e-62 |
SMART |
|
DAGKa
|
515 |
696 |
4.1e-103 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054125
AA Change: R445Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000051869
Gene: ENSMUSG00000025359
AA Change: R445Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
PKD
|
228 |
310 |
3.17e-7 |
SMART |
|
low complexity region
|
326 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
396 |
N/A |
INTRINSIC |
|
transmembrane domain
|
559 |
581 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217836
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219157
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219834
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
PHENOTYPE: This mutation affects the viability of melanoblasts, resulting in random occurrence of white, partially white or gray hairs, and fully pigmented hairs that together display as varying intensities of silvering. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230009I02Rik |
T |
G |
11: 50,982,542 (GRCm39) |
|
noncoding transcript |
Het |
| Acp6 |
A |
G |
3: 97,073,198 (GRCm39) |
T80A |
probably damaging |
Het |
| Adamtsl5 |
T |
C |
10: 80,180,757 (GRCm39) |
T102A |
probably benign |
Het |
| Adcy6 |
C |
A |
15: 98,494,400 (GRCm39) |
E812* |
probably null |
Het |
| Apol6 |
G |
A |
15: 76,935,216 (GRCm39) |
V162I |
possibly damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,220,206 (GRCm39) |
M396K |
possibly damaging |
Het |
| B3gnt8 |
A |
G |
7: 25,328,613 (GRCm39) |
T348A |
probably damaging |
Het |
| Cgnl1 |
A |
G |
9: 71,562,672 (GRCm39) |
V869A |
probably benign |
Het |
| Dcaf5 |
A |
T |
12: 80,395,098 (GRCm39) |
I357N |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,749,903 (GRCm39) |
I165V |
probably benign |
Het |
| Dlgap2 |
T |
A |
8: 14,893,631 (GRCm39) |
I982K |
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,413,772 (GRCm39) |
H1891L |
probably benign |
Het |
| Fhad1 |
A |
C |
4: 141,660,113 (GRCm39) |
S65R |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,652,996 (GRCm39) |
I1331T |
probably damaging |
Het |
| Fto |
A |
T |
8: 92,136,359 (GRCm39) |
Y211F |
probably benign |
Het |
| Gm3278 |
A |
C |
14: 16,080,370 (GRCm39) |
R60S |
probably benign |
Het |
| Ifna9 |
A |
G |
4: 88,510,097 (GRCm39) |
S176P |
probably damaging |
Het |
| Klk1 |
T |
C |
7: 43,878,407 (GRCm39) |
I189T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,682,419 (GRCm39) |
G519R |
probably damaging |
Het |
| Mcph1 |
G |
A |
8: 18,682,420 (GRCm39) |
G519E |
probably damaging |
Het |
| N4bp1 |
A |
T |
8: 87,587,624 (GRCm39) |
V438E |
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,828,423 (GRCm39) |
V58E |
probably damaging |
Het |
| Nid2 |
T |
A |
14: 19,858,047 (GRCm39) |
S1054T |
probably damaging |
Het |
| Nlrp4a |
A |
T |
7: 26,153,492 (GRCm39) |
Y681F |
probably benign |
Het |
| Or4f57 |
T |
C |
2: 111,791,352 (GRCm39) |
D22G |
probably benign |
Het |
| Or4k15c |
A |
G |
14: 50,321,959 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or52e19b |
C |
A |
7: 103,032,770 (GRCm39) |
M146I |
probably benign |
Het |
| Or5b94 |
G |
A |
19: 12,652,442 (GRCm39) |
R291K |
probably damaging |
Het |
| Papln |
A |
T |
12: 83,822,236 (GRCm39) |
T364S |
probably benign |
Het |
| Pcdh18 |
C |
A |
3: 49,710,371 (GRCm39) |
E315* |
probably null |
Het |
| Ppp1r12b |
C |
T |
1: 134,821,245 (GRCm39) |
V182I |
possibly damaging |
Het |
| Ptprn2 |
A |
G |
12: 116,864,607 (GRCm39) |
T541A |
probably damaging |
Het |
| Rbl1 |
A |
T |
2: 157,005,576 (GRCm39) |
N813K |
probably benign |
Het |
| Sash1 |
C |
A |
10: 8,609,410 (GRCm39) |
R713L |
probably benign |
Het |
| Slc13a1 |
T |
G |
6: 24,134,371 (GRCm39) |
T171P |
probably damaging |
Het |
| Slc18b1 |
G |
T |
10: 23,701,899 (GRCm39) |
E407D |
probably damaging |
Het |
| Slc2a6 |
G |
A |
2: 26,914,227 (GRCm39) |
Q297* |
probably null |
Het |
| Vmn1r209 |
T |
C |
13: 22,989,832 (GRCm39) |
H286R |
probably damaging |
Het |
| Vmn1r28 |
C |
A |
6: 58,242,522 (GRCm39) |
H122N |
probably benign |
Het |
| Wfs1 |
A |
G |
5: 37,125,980 (GRCm39) |
Y304H |
probably benign |
Het |
| Zfp512b |
A |
G |
2: 181,230,556 (GRCm39) |
S445P |
possibly damaging |
Het |
|
| Other mutations in Pmel |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Pmel
|
APN |
10 |
128,551,958 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03205:Pmel
|
APN |
10 |
128,552,317 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0288:Pmel
|
UTSW |
10 |
128,550,175 (GRCm39) |
missense |
probably benign |
|
|
R0944:Pmel
|
UTSW |
10 |
128,551,126 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1220:Pmel
|
UTSW |
10 |
128,549,929 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1429:Pmel
|
UTSW |
10 |
128,554,861 (GRCm39) |
splice site |
probably null |
|
|
R5222:Pmel
|
UTSW |
10 |
128,554,853 (GRCm39) |
splice site |
probably null |
|
|
R5689:Pmel
|
UTSW |
10 |
128,552,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5767:Pmel
|
UTSW |
10 |
128,550,250 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6145:Pmel
|
UTSW |
10 |
128,551,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7287:Pmel
|
UTSW |
10 |
128,551,095 (GRCm39) |
nonsense |
probably null |
|
|
R7410:Pmel
|
UTSW |
10 |
128,552,353 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7978:Pmel
|
UTSW |
10 |
128,551,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9053:Pmel
|
UTSW |
10 |
128,551,918 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-02-04 |
Incidental Mutation