Incidental Mutation 'IGL01779:Mlph'
| ID |
153883 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mlph
|
| Ensembl Gene |
ENSMUSG00000026303 |
| Gene Name |
melanophilin |
| Synonyms |
D1Wsu84e, Slac-2a |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL01779
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
90842807-90878864 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90870672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 528
(M528V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027528]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027528
AA Change: M528V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027528
Gene: ENSMUSG00000026303
AA Change: M528V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
8 |
125 |
2e-51 |
PFAM |
|
low complexity region
|
147 |
160 |
N/A |
INTRINSIC |
|
PDB:4KP3|F
|
170 |
208 |
1e-18 |
PDB |
|
low complexity region
|
379 |
406 |
N/A |
INTRINSIC |
|
Pfam:Rab_eff_C
|
437 |
501 |
1e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136220
|
| 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 member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous targeted null mutants affect viability and body size, and result in abnormal lungs, kidneys, immune system, hematopoiesis, myelopoiesis, and anomalies in cerebellar foliation and neuronal cell layer development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
T |
5: 81,535,717 (GRCm39) |
I119F |
probably damaging |
Het |
| Akt1 |
C |
T |
12: 112,623,603 (GRCm39) |
G286R |
probably damaging |
Het |
| Apof |
A |
G |
10: 128,105,346 (GRCm39) |
I167V |
probably benign |
Het |
| Arhgap15 |
A |
G |
2: 43,955,057 (GRCm39) |
E220G |
possibly damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,525,139 (GRCm39) |
Y31F |
possibly damaging |
Het |
| Clmn |
T |
C |
12: 104,748,399 (GRCm39) |
I383V |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 99,895,064 (GRCm39) |
D112G |
probably damaging |
Het |
| Col8a1 |
A |
T |
16: 57,448,726 (GRCm39) |
H261Q |
unknown |
Het |
| Csmd3 |
A |
T |
15: 47,721,290 (GRCm39) |
V1551D |
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,470,857 (GRCm39) |
V1450M |
possibly damaging |
Het |
| Ethe1 |
A |
T |
7: 24,294,434 (GRCm39) |
H79L |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gm11110 |
C |
T |
17: 57,409,087 (GRCm39) |
|
probably benign |
Het |
| Hs1bp3 |
C |
T |
12: 8,391,945 (GRCm39) |
T349I |
probably benign |
Het |
| Ifna16 |
A |
T |
4: 88,594,882 (GRCm39) |
I71N |
probably damaging |
Het |
| Il18bp |
A |
G |
7: 101,666,002 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,790,979 (GRCm39) |
I511N |
probably damaging |
Het |
| Or52d1 |
A |
G |
7: 103,755,840 (GRCm39) |
D118G |
probably damaging |
Het |
| Pprc1 |
T |
A |
19: 46,050,641 (GRCm39) |
I52N |
probably damaging |
Het |
| Rfx1 |
T |
A |
8: 84,819,291 (GRCm39) |
|
probably benign |
Het |
| Rnf17 |
A |
T |
14: 56,699,520 (GRCm39) |
I553F |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,799,524 (GRCm39) |
H180Q |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc30a10 |
A |
T |
1: 185,196,376 (GRCm39) |
Q346L |
possibly damaging |
Het |
| Stambpl1 |
A |
T |
19: 34,217,427 (GRCm39) |
H422L |
possibly damaging |
Het |
| Trim67 |
G |
A |
8: 125,554,860 (GRCm39) |
G701R |
probably damaging |
Het |
| Vipr1 |
T |
C |
9: 121,493,696 (GRCm39) |
F249S |
probably damaging |
Het |
| Vmn2r117 |
G |
T |
17: 23,696,215 (GRCm39) |
D397E |
probably benign |
Het |
|
| Other mutations in Mlph |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01516:Mlph
|
APN |
1 |
90,867,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01952:Mlph
|
APN |
1 |
90,861,193 (GRCm39) |
missense |
probably benign |
0.00 |
|
beau
|
UTSW |
1 |
90,855,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Golem
|
UTSW |
1 |
0 () |
unclassified |
|
|
|
koala
|
UTSW |
1 |
90,861,022 (GRCm39) |
unclassified |
probably benign |
|
|
R0652:Mlph
|
UTSW |
1 |
90,870,630 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1374:Mlph
|
UTSW |
1 |
90,869,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1643:Mlph
|
UTSW |
1 |
90,869,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Mlph
|
UTSW |
1 |
90,873,389 (GRCm39) |
nonsense |
probably null |
|
|
R2395:Mlph
|
UTSW |
1 |
90,861,228 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3875:Mlph
|
UTSW |
1 |
90,855,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4632:Mlph
|
UTSW |
1 |
90,867,108 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4720:Mlph
|
UTSW |
1 |
90,869,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4963:Mlph
|
UTSW |
1 |
90,867,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5588:Mlph
|
UTSW |
1 |
90,859,321 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5901:Mlph
|
UTSW |
1 |
90,867,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6063:Mlph
|
UTSW |
1 |
90,855,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6912:Mlph
|
UTSW |
1 |
90,873,342 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7019:Mlph
|
UTSW |
1 |
90,869,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7336:Mlph
|
UTSW |
1 |
90,849,705 (GRCm39) |
splice site |
probably null |
|
|
R7491:Mlph
|
UTSW |
1 |
90,867,100 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7507:Mlph
|
UTSW |
1 |
90,855,429 (GRCm39) |
start gained |
probably benign |
|
|
R7648:Mlph
|
UTSW |
1 |
90,861,248 (GRCm39) |
splice site |
probably null |
|
|
R7899:Mlph
|
UTSW |
1 |
90,869,485 (GRCm39) |
nonsense |
probably null |
|
|
R8792:Mlph
|
UTSW |
1 |
90,870,682 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8801:Mlph
|
UTSW |
1 |
90,870,609 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9154:Mlph
|
UTSW |
1 |
90,855,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9390:Mlph
|
UTSW |
1 |
90,867,088 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9469:Mlph
|
UTSW |
1 |
90,856,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0013:Mlph
|
UTSW |
1 |
90,855,876 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2014-02-04 |
Incidental Mutation