Incidental Mutation 'R1429:Pmel'
| ID |
161451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pmel
|
| Ensembl Gene |
ENSMUSG00000025359 |
| Gene Name |
premelanosome protein |
| Synonyms |
D10H12S53E, gp87, Si, gp100, Pmel17, D12S53Eh |
| MMRRC Submission |
039485-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1429 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128540064-128556107 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 128554861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000054125
|
| SMART Domains |
Protein: ENSMUSP00000051869
Gene: ENSMUSG00000025359
| 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 |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Alg8 |
C |
T |
7: 97,039,499 (GRCm39) |
A410V |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,849,420 (GRCm39) |
Y481C |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,418,260 (GRCm39) |
V56A |
possibly damaging |
Het |
| Cactin |
T |
C |
10: 81,159,512 (GRCm39) |
I23T |
probably damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,656,900 (GRCm39) |
I3051V |
probably benign |
Het |
| Cpxm1 |
A |
T |
2: 130,238,364 (GRCm39) |
I66N |
probably damaging |
Het |
| Ddx50 |
G |
A |
10: 62,482,847 (GRCm39) |
T74I |
possibly damaging |
Het |
| Dnah7b |
G |
T |
1: 46,328,816 (GRCm39) |
D3183Y |
possibly damaging |
Het |
| Dsg1b |
A |
G |
18: 20,523,252 (GRCm39) |
D93G |
probably damaging |
Het |
| Ess2 |
G |
A |
16: 17,720,069 (GRCm39) |
R427* |
probably null |
Het |
| Fam135a |
T |
G |
1: 24,083,348 (GRCm39) |
K292N |
probably damaging |
Het |
| Fam83b |
G |
T |
9: 76,399,859 (GRCm39) |
R415S |
probably benign |
Het |
| Fxyd3 |
T |
A |
7: 30,773,046 (GRCm39) |
M1L |
probably benign |
Het |
| Gm5134 |
T |
A |
10: 75,814,215 (GRCm39) |
M193K |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,720,925 (GRCm39) |
E427G |
possibly damaging |
Het |
| Gpat3 |
G |
A |
5: 101,040,953 (GRCm39) |
G338S |
probably damaging |
Het |
| Hmgxb3 |
C |
T |
18: 61,283,505 (GRCm39) |
R606Q |
probably damaging |
Het |
| Itgb1 |
T |
C |
8: 129,444,157 (GRCm39) |
|
probably null |
Het |
| Myh1 |
C |
A |
11: 67,108,736 (GRCm39) |
T1384K |
possibly damaging |
Het |
| Myo3b |
A |
C |
2: 70,083,351 (GRCm39) |
Q640P |
probably damaging |
Het |
| Naa16 |
A |
G |
14: 79,596,967 (GRCm39) |
V305A |
probably benign |
Het |
| Or5h17 |
G |
A |
16: 58,820,501 (GRCm39) |
G151D |
possibly damaging |
Het |
| Pgap1 |
T |
C |
1: 54,534,020 (GRCm39) |
D631G |
probably benign |
Het |
| Phc2 |
C |
A |
4: 128,637,348 (GRCm39) |
P51Q |
probably damaging |
Het |
| Rassf8 |
G |
T |
6: 145,760,916 (GRCm39) |
G81W |
probably damaging |
Het |
| Rfx2 |
G |
T |
17: 57,111,369 (GRCm39) |
Q68K |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Rsbn1l |
A |
G |
5: 21,125,016 (GRCm39) |
L262S |
probably damaging |
Het |
| S100a16 |
A |
C |
3: 90,449,391 (GRCm39) |
Y22S |
probably damaging |
Het |
| Stx19 |
G |
A |
16: 62,642,960 (GRCm39) |
V259I |
possibly damaging |
Het |
| Tas2r105 |
T |
C |
6: 131,663,904 (GRCm39) |
I175V |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,802,031 (GRCm39) |
H90L |
possibly damaging |
Het |
| Wscd1 |
T |
A |
11: 71,651,000 (GRCm39) |
L109Q |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,413,070 (GRCm39) |
Q1154L |
probably damaging |
Het |
| Zmym6 |
T |
C |
4: 127,017,672 (GRCm39) |
L1059P |
probably 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 |
|
IGL01788:Pmel
|
APN |
10 |
128,553,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGCACCCAACTTGTTGTTC -3'
(R):5'- GCTTGCCCACATAGCTTCTAATGCC -3'
Sequencing Primer
(F):5'- CCAACTTGTTGTTCCTGGTG -3'
(R):5'- GTTTAAAACTACTTCTCAAAGGCACC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation