Incidental Mutation 'R3875:Mlph'
ID |
276771 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mlph
|
Ensembl Gene |
ENSMUSG00000026303 |
Gene Name |
melanophilin |
Synonyms |
D1Wsu84e, Slac-2a |
MMRRC Submission |
068967-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R3875 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
90842807-90878864 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 90855844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 57
(C57R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123314
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027528]
[ENSMUST00000125149]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027528
AA Change: C84R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027528 Gene: ENSMUSG00000026303 AA Change: C84R
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 |
probably damaging
Transcript: ENSMUST00000125149
AA Change: C57R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123314 Gene: ENSMUSG00000026303 AA Change: C57R
Domain | Start | End | E-Value | Type |
Pfam:FYVE_2
|
10 |
98 |
1.3e-36 |
PFAM |
|
Meta Mutation Damage Score |
0.9688 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
100% (50/50) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
T |
C |
2: 152,276,000 (GRCm39) |
S72P |
probably benign |
Het |
Abca5 |
T |
A |
11: 110,201,059 (GRCm39) |
Y447F |
probably damaging |
Het |
Adgrg2 |
A |
G |
X: 159,261,992 (GRCm39) |
S337G |
probably benign |
Het |
Akap12 |
G |
A |
10: 4,307,590 (GRCm39) |
V1467I |
probably benign |
Het |
Baz2a |
T |
A |
10: 127,959,979 (GRCm39) |
M1419K |
probably damaging |
Het |
Cacna1g |
G |
A |
11: 94,328,749 (GRCm39) |
T1033I |
probably damaging |
Het |
Car12 |
C |
A |
9: 66,624,834 (GRCm39) |
|
probably benign |
Het |
Cpne1 |
G |
A |
2: 155,918,202 (GRCm39) |
H352Y |
probably damaging |
Het |
D630039A03Rik |
T |
A |
4: 57,910,606 (GRCm39) |
T69S |
probably benign |
Het |
Dhodh |
T |
C |
8: 110,321,592 (GRCm39) |
D310G |
probably null |
Het |
Dnah2 |
A |
G |
11: 69,320,174 (GRCm39) |
I3965T |
probably damaging |
Het |
Drd5 |
T |
G |
5: 38,477,157 (GRCm39) |
V50G |
possibly damaging |
Het |
Dst |
C |
A |
1: 34,210,328 (GRCm39) |
H934Q |
probably damaging |
Het |
Eif1ad10 |
T |
C |
12: 88,216,476 (GRCm39) |
D132G |
unknown |
Het |
Far2 |
G |
A |
6: 148,052,089 (GRCm39) |
E123K |
probably benign |
Het |
Fbxo43 |
A |
T |
15: 36,162,249 (GRCm39) |
F319L |
probably benign |
Het |
Flii |
T |
C |
11: 60,611,318 (GRCm39) |
S418G |
probably benign |
Het |
Glyctk |
T |
A |
9: 106,034,820 (GRCm39) |
Y82F |
probably damaging |
Het |
Gm11353 |
G |
T |
13: 26,676,651 (GRCm39) |
|
noncoding transcript |
Het |
Gm6505 |
T |
A |
3: 28,819,286 (GRCm39) |
|
noncoding transcript |
Het |
Gpr151 |
A |
G |
18: 42,711,661 (GRCm39) |
V339A |
probably benign |
Het |
H2-T22 |
T |
C |
17: 36,351,195 (GRCm39) |
I296V |
probably benign |
Het |
Igfn1 |
T |
C |
1: 135,882,352 (GRCm39) |
N2831S |
probably damaging |
Het |
Igkv13-85 |
A |
G |
6: 68,907,484 (GRCm39) |
V39A |
probably damaging |
Het |
Irx5 |
A |
G |
8: 93,086,793 (GRCm39) |
T242A |
probably benign |
Het |
Krt26 |
T |
C |
11: 99,225,570 (GRCm39) |
K304E |
probably damaging |
Het |
Mcoln1 |
A |
G |
8: 3,558,355 (GRCm39) |
D203G |
probably benign |
Het |
Myh13 |
C |
A |
11: 67,249,020 (GRCm39) |
H1275Q |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,233,758 (GRCm39) |
|
probably benign |
Het |
Orc5 |
T |
A |
5: 22,742,564 (GRCm39) |
M115L |
probably benign |
Het |
Pcdha6 |
T |
A |
18: 37,101,119 (GRCm39) |
I104N |
probably damaging |
Het |
Plcb4 |
T |
C |
2: 135,844,552 (GRCm39) |
S157P |
probably damaging |
Het |
Polq |
A |
G |
16: 36,894,389 (GRCm39) |
D1787G |
probably damaging |
Het |
Prkar2b |
T |
G |
12: 32,015,122 (GRCm39) |
I142L |
probably benign |
Het |
Ptprq |
A |
G |
10: 107,520,965 (GRCm39) |
S736P |
possibly damaging |
Het |
Qrich2 |
A |
T |
11: 116,336,477 (GRCm39) |
V2046D |
probably damaging |
Het |
Rad21 |
A |
T |
15: 51,833,361 (GRCm39) |
F373I |
probably damaging |
Het |
Rcvrn |
A |
G |
11: 67,590,880 (GRCm39) |
I155V |
probably benign |
Het |
Rsrc2 |
C |
T |
5: 123,874,691 (GRCm39) |
|
probably benign |
Het |
Sgsh |
A |
G |
11: 119,241,773 (GRCm39) |
L111P |
probably damaging |
Het |
Ssc5d |
A |
T |
7: 4,930,261 (GRCm39) |
D114V |
probably damaging |
Het |
St6gal2 |
C |
A |
17: 55,789,698 (GRCm39) |
P244Q |
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,165,538 (GRCm39) |
|
probably benign |
Het |
Tmem221 |
T |
C |
8: 72,008,399 (GRCm39) |
|
probably null |
Het |
Trh |
A |
T |
6: 92,220,679 (GRCm39) |
V61E |
possibly damaging |
Het |
Trim32 |
A |
T |
4: 65,531,703 (GRCm39) |
I87F |
possibly damaging |
Het |
Tti2 |
A |
G |
8: 31,641,175 (GRCm39) |
K100E |
probably benign |
Het |
Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
Vps13d |
A |
G |
4: 144,917,114 (GRCm39) |
Y17H |
probably damaging |
Het |
Zfp106 |
T |
C |
2: 120,365,094 (GRCm39) |
K438E |
probably benign |
Het |
Zfp60 |
T |
C |
7: 27,449,006 (GRCm39) |
I558T |
probably damaging |
Het |
Zzef1 |
A |
C |
11: 72,779,866 (GRCm39) |
I1880L |
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 |
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 |
|
R2395:Mlph
|
UTSW |
1 |
90,861,228 (GRCm39) |
missense |
probably benign |
0.06 |
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'- TCACTGGTCGGTTGTAGAAAC -3'
(R):5'- CCAGAGAACCGATCTTCACG -3'
Sequencing Primer
(F):5'- ATTTTTTCCCAAGGGGGC -3'
(R):5'- GAGAACCGATCTTCACGACCCTG -3'
|
Posted On |
2015-04-06 |