Incidental Mutation 'R1220:Pmel'
| ID |
100018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pmel
|
| Ensembl Gene |
ENSMUSG00000025359 |
| Gene Name |
premelanosome protein |
| Synonyms |
D10H12S53E, gp87, Si, gp100, Pmel17, D12S53Eh |
| MMRRC Submission |
039289-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1220 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
128540064-128556107 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128549929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 30
(D30G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054125]
[ENSMUST00000217836]
[ENSMUST00000219157]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054125
AA Change: D30G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000051869
Gene: ENSMUSG00000025359
AA Change: D30G
| 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
AA Change: D30G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219157
AA Change: D30G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0714 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.2%
|
| Validation Efficiency |
100% (35/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
C |
A |
7: 119,257,537 (GRCm39) |
S407R |
probably benign |
Het |
| Add2 |
A |
T |
6: 86,063,982 (GRCm39) |
M94L |
possibly damaging |
Het |
| Anks6 |
A |
T |
4: 47,025,767 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,710,899 (GRCm39) |
S678P |
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,732,491 (GRCm39) |
Y76C |
probably damaging |
Het |
| Col1a1 |
G |
T |
11: 94,841,957 (GRCm39) |
A1335S |
unknown |
Het |
| Col25a1 |
G |
T |
3: 130,182,574 (GRCm39) |
|
probably benign |
Het |
| Commd10 |
C |
A |
18: 47,220,107 (GRCm39) |
Q195K |
probably damaging |
Het |
| Cps1 |
G |
A |
1: 67,243,862 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
A |
T |
17: 25,201,211 (GRCm39) |
V757D |
probably damaging |
Het |
| Cttn |
T |
C |
7: 144,017,699 (GRCm39) |
T13A |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,742,573 (GRCm39) |
|
probably benign |
Het |
| Eif4enif1 |
A |
G |
11: 3,189,493 (GRCm39) |
|
probably benign |
Het |
| Exoc3l2 |
T |
A |
7: 19,225,709 (GRCm39) |
|
probably benign |
Het |
| Fam118b |
T |
C |
9: 35,134,969 (GRCm39) |
S213G |
possibly damaging |
Het |
| Katnal1 |
G |
A |
5: 148,831,061 (GRCm39) |
A171V |
probably benign |
Het |
| Lrig3 |
A |
G |
10: 125,832,945 (GRCm39) |
N273S |
probably damaging |
Het |
| Lrriq1 |
G |
A |
10: 102,906,990 (GRCm39) |
R1577W |
probably benign |
Het |
| Or1e26 |
A |
C |
11: 73,480,203 (GRCm39) |
Y120* |
probably null |
Het |
| Or5p70 |
T |
A |
7: 107,994,539 (GRCm39) |
S71T |
probably benign |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,293 (GRCm39) |
Y505C |
probably damaging |
Het |
| Prpf40b |
C |
T |
15: 99,214,229 (GRCm39) |
R830C |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,566,479 (GRCm39) |
D106E |
probably damaging |
Het |
| Rad18 |
C |
A |
6: 112,626,625 (GRCm39) |
E141* |
probably null |
Het |
| Ros1 |
C |
T |
10: 51,974,966 (GRCm39) |
V1540M |
probably damaging |
Het |
| Secisbp2 |
G |
A |
13: 51,810,941 (GRCm39) |
R201H |
probably damaging |
Het |
| Shisa6 |
A |
G |
11: 66,110,836 (GRCm39) |
S302P |
probably damaging |
Het |
| Slamf9 |
C |
A |
1: 172,304,898 (GRCm39) |
Q171K |
probably benign |
Het |
| Sox6 |
T |
A |
7: 115,261,677 (GRCm39) |
T180S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,553,998 (GRCm39) |
S30902G |
possibly damaging |
Het |
| Xirp1 |
A |
G |
9: 119,846,982 (GRCm39) |
F634L |
possibly damaging |
Het |
| Yrdc |
T |
A |
4: 124,748,329 (GRCm39) |
S278T |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTGTTGGGTCCTCAATTCAGTC -3'
(R):5'- GCATTTGCACCAACCAGTGTAGGC -3'
Sequencing Primer
(F):5'- GGGTCCTCAATTCAGTCTCAGTG -3'
(R):5'- TGACCCTCAGAGATACCTGGC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation