Incidental Mutation 'R2395:Mlph'
ID |
248478 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mlph
|
Ensembl Gene |
ENSMUSG00000026303 |
Gene Name |
melanophilin |
Synonyms |
D1Wsu84e, Slac-2a |
MMRRC Submission |
040363-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R2395 (G1)
|
Quality Score |
188 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
90842807-90878864 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 90861228 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 288
(T288A)
|
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: T288A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000027528 Gene: ENSMUSG00000026303 AA Change: T288A
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 |
|
Meta Mutation Damage Score |
0.0774 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (30/30) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
G |
11: 109,959,614 (GRCm39) |
Y707H |
probably damaging |
Het |
Abcc3 |
A |
G |
11: 94,248,132 (GRCm39) |
V1156A |
possibly damaging |
Het |
Acsl3 |
T |
C |
1: 78,683,085 (GRCm39) |
V661A |
probably benign |
Het |
Atosb |
C |
A |
4: 43,035,964 (GRCm39) |
E256* |
probably null |
Het |
B3glct |
A |
G |
5: 149,677,651 (GRCm39) |
T427A |
probably damaging |
Het |
Cblc |
C |
A |
7: 19,519,305 (GRCm39) |
C341F |
probably damaging |
Het |
Cntn2 |
T |
C |
1: 132,454,110 (GRCm39) |
S299G |
probably benign |
Het |
Dcp1b |
T |
C |
6: 119,192,025 (GRCm39) |
S314P |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,068,950 (GRCm39) |
|
probably null |
Het |
Fmn1 |
A |
G |
2: 113,195,526 (GRCm39) |
T409A |
unknown |
Het |
Hltf |
C |
T |
3: 20,146,906 (GRCm39) |
A555V |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,520,150 (GRCm39) |
I1987V |
probably benign |
Het |
Map3k10 |
T |
C |
7: 27,373,418 (GRCm39) |
E11G |
unknown |
Het |
Micu1 |
G |
T |
10: 59,699,024 (GRCm39) |
E434* |
probably null |
Het |
Myh13 |
A |
G |
11: 67,255,748 (GRCm39) |
E1679G |
probably benign |
Het |
Myh15 |
A |
G |
16: 48,889,877 (GRCm39) |
N156S |
probably benign |
Het |
Nab1 |
A |
G |
1: 52,529,741 (GRCm39) |
I52T |
probably damaging |
Het |
Naip1 |
T |
C |
13: 100,559,614 (GRCm39) |
H1130R |
possibly damaging |
Het |
Or10al2 |
T |
G |
17: 37,983,587 (GRCm39) |
Y224* |
probably null |
Het |
Or8k23 |
A |
G |
2: 86,186,609 (GRCm39) |
V39A |
probably benign |
Het |
P2rx2 |
A |
G |
5: 110,489,527 (GRCm39) |
Y136H |
probably damaging |
Het |
Phf8-ps |
T |
C |
17: 33,284,936 (GRCm39) |
E622G |
probably benign |
Het |
Prss40 |
A |
G |
1: 34,598,986 (GRCm39) |
V59A |
possibly damaging |
Het |
Riox1 |
A |
T |
12: 83,997,418 (GRCm39) |
|
probably null |
Het |
Rxrb |
T |
G |
17: 34,256,412 (GRCm39) |
C384W |
probably damaging |
Het |
Srebf2 |
C |
T |
15: 82,076,456 (GRCm39) |
T702I |
probably benign |
Het |
Tmprss5 |
T |
A |
9: 49,026,435 (GRCm39) |
L373* |
probably null |
Het |
Trpm2 |
A |
C |
10: 77,783,714 (GRCm39) |
I253S |
possibly damaging |
Het |
Ush2a |
C |
T |
1: 188,679,237 (GRCm39) |
T4815I |
probably damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,506,975 (GRCm39) |
M779K |
probably damaging |
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 |
IGL01779:Mlph
|
APN |
1 |
90,870,672 (GRCm39) |
missense |
probably benign |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTGTGCTCAGTCCCTCTCAG -3'
(R):5'- TCCAGGTATCACAGGGAAGC -3'
Sequencing Primer
(F):5'- TCTCAGGTGAGCCCTACTCTGAG -3'
(R):5'- TATCACAGGGAAGCACTGAGC -3'
|
Posted On |
2014-11-11 |