Incidental Mutation 'R5901:Mlph'
| ID |
456305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mlph
|
| Ensembl Gene |
ENSMUSG00000026303 |
| Gene Name |
melanophilin |
| Synonyms |
D1Wsu84e, Slac-2a |
| MMRRC Submission |
043239-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R5901 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
90842807-90878864 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90867536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 450
(L450P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027528]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027528
AA Change: L450P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027528
Gene: ENSMUSG00000026303
AA Change: L450P
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
T |
A |
11: 99,728,163 (GRCm39) |
S227C |
unknown |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adamts15 |
C |
T |
9: 30,813,786 (GRCm39) |
R793H |
probably damaging |
Het |
| Ankra2 |
A |
G |
13: 98,407,644 (GRCm39) |
E38G |
probably damaging |
Het |
| Aqp8 |
G |
A |
7: 123,061,807 (GRCm39) |
C8Y |
probably damaging |
Het |
| Atg9b |
A |
G |
5: 24,597,017 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b1 |
A |
G |
6: 83,735,339 (GRCm39) |
E469G |
possibly damaging |
Het |
| B4gat1 |
T |
A |
19: 5,089,241 (GRCm39) |
Y79* |
probably null |
Het |
| BB019430 |
T |
A |
10: 58,540,014 (GRCm39) |
|
noncoding transcript |
Het |
| Calhm3 |
T |
C |
19: 47,146,052 (GRCm39) |
Y51C |
probably damaging |
Het |
| Ccr2 |
C |
T |
9: 123,906,239 (GRCm39) |
T173I |
possibly damaging |
Het |
| Cfap43 |
T |
C |
19: 47,885,538 (GRCm39) |
D359G |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,566,639 (GRCm39) |
E1022G |
possibly damaging |
Het |
| Drd2 |
T |
A |
9: 49,318,259 (GRCm39) |
C400* |
probably null |
Het |
| Efcab7 |
T |
A |
4: 99,766,941 (GRCm39) |
H495Q |
probably damaging |
Het |
| Faim |
T |
C |
9: 98,874,195 (GRCm39) |
V29A |
probably benign |
Het |
| Fancd2 |
T |
C |
6: 113,526,326 (GRCm39) |
S350P |
probably damaging |
Het |
| Fbxw16 |
T |
C |
9: 109,270,285 (GRCm39) |
E152G |
probably benign |
Het |
| Kif17 |
T |
C |
4: 138,025,643 (GRCm39) |
|
probably null |
Het |
| Kif24 |
A |
T |
4: 41,428,604 (GRCm39) |
S119T |
probably damaging |
Het |
| Ly6k |
A |
T |
15: 74,670,429 (GRCm39) |
S38T |
probably benign |
Het |
| Mapk10 |
A |
G |
5: 103,061,158 (GRCm39) |
S430P |
probably damaging |
Het |
| Megf10 |
G |
A |
18: 57,410,180 (GRCm39) |
A654T |
probably benign |
Het |
| Otof |
T |
C |
5: 30,532,323 (GRCm39) |
D1603G |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,116,771 (GRCm39) |
S1580P |
possibly damaging |
Het |
| Rad54b |
G |
A |
4: 11,595,919 (GRCm39) |
R232H |
possibly damaging |
Het |
| Sar1b |
C |
T |
11: 51,670,576 (GRCm39) |
T40I |
possibly damaging |
Het |
| Scyl2 |
C |
T |
10: 89,496,124 (GRCm39) |
S242N |
probably benign |
Het |
| Sema4b |
A |
G |
7: 79,874,715 (GRCm39) |
N702D |
possibly damaging |
Het |
| Slc16a11 |
A |
G |
11: 70,107,172 (GRCm39) |
I394V |
probably benign |
Het |
| Stard9 |
A |
C |
2: 120,531,851 (GRCm39) |
T2703P |
probably damaging |
Het |
| Stat5b |
A |
T |
11: 100,695,733 (GRCm39) |
L83Q |
possibly damaging |
Het |
| Tas2r119 |
T |
A |
15: 32,177,932 (GRCm39) |
V166D |
possibly damaging |
Het |
| Tmem117 |
T |
A |
15: 94,612,839 (GRCm39) |
I125N |
probably benign |
Het |
| Tmem39a |
T |
C |
16: 38,393,568 (GRCm39) |
I89T |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,178,565 (GRCm39) |
H3272Q |
probably damaging |
Het |
| Vmn1r7 |
T |
C |
6: 57,001,591 (GRCm39) |
E223G |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,603,796 (GRCm39) |
V658A |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,343,410 (GRCm39) |
T1884S |
possibly damaging |
Het |
| Xkr4 |
A |
T |
1: 3,286,901 (GRCm39) |
F430I |
probably damaging |
Het |
| Yae1d1 |
A |
G |
13: 18,164,200 (GRCm39) |
M1T |
probably null |
Het |
| Zfand4 |
T |
C |
6: 116,265,084 (GRCm39) |
V183A |
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 |
|
|
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 |
|
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'- CCATGGGAATTCACCAGTGTGG -3'
(R):5'- ATTCCTCAGGTTGAGCAGGG -3'
Sequencing Primer
(F):5'- ATTCACCAGTGTGGCAGCAG -3'
(R):5'- CTCAGGTTGAGCAGGGGAGTG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation