Incidental Mutation 'R7507:Mlph'
ID |
628175 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mlph
|
Ensembl Gene |
ENSMUSG00000026303 |
Gene Name |
melanophilin |
Synonyms |
D1Wsu84e, Slac-2a |
MMRRC Submission |
045580-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R7507 (G1)
|
Quality Score |
67.0074 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
90842807-90878864 bp(+) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
A to T
at 90855429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123314
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027528]
[ENSMUST00000125149]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027528
|
SMART Domains |
Protein: ENSMUSP00000027528 Gene: ENSMUSG00000026303
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 benign
Transcript: ENSMUST00000125149
|
SMART Domains |
Protein: ENSMUSP00000123314 Gene: ENSMUSG00000026303
Domain | Start | End | E-Value | Type |
Pfam:FYVE_2
|
10 |
98 |
1.3e-36 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (43/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
T |
6: 121,652,177 (GRCm39) |
T1359S |
probably benign |
Het |
Adam8 |
C |
T |
7: 139,567,091 (GRCm39) |
|
probably null |
Het |
Adnp2 |
A |
G |
18: 80,174,068 (GRCm39) |
S114P |
probably benign |
Het |
BC051019 |
T |
A |
7: 109,315,475 (GRCm39) |
D260V |
possibly damaging |
Het |
Btnl10 |
A |
G |
11: 58,811,384 (GRCm39) |
T236A |
probably benign |
Het |
Cacna1c |
A |
T |
6: 119,034,200 (GRCm39) |
L109Q |
|
Het |
Clint1 |
C |
A |
11: 45,799,776 (GRCm39) |
Q512K |
possibly damaging |
Het |
Dop1a |
A |
G |
9: 86,418,002 (GRCm39) |
N1957S |
probably benign |
Het |
Gosr1 |
A |
T |
11: 76,645,240 (GRCm39) |
N101K |
probably benign |
Het |
Gria1 |
A |
G |
11: 57,119,765 (GRCm39) |
T350A |
probably benign |
Het |
Hs3st5 |
T |
A |
10: 36,709,011 (GRCm39) |
V182D |
probably damaging |
Het |
Igkv4-80 |
G |
T |
6: 68,993,677 (GRCm39) |
S71R |
probably benign |
Het |
Kif2b |
A |
G |
11: 91,468,269 (GRCm39) |
F5L |
probably benign |
Het |
Med1 |
A |
G |
11: 98,048,852 (GRCm39) |
L648P |
probably damaging |
Het |
Mgat4a |
G |
A |
1: 37,491,608 (GRCm39) |
L375F |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,274,626 (GRCm39) |
S346P |
probably damaging |
Het |
Nhlrc2 |
G |
A |
19: 56,585,810 (GRCm39) |
V682I |
not run |
Het |
Nos3 |
T |
C |
5: 24,577,642 (GRCm39) |
M552T |
probably damaging |
Het |
Or4e2 |
A |
G |
14: 52,687,930 (GRCm39) |
N20S |
probably benign |
Het |
Or5w19 |
T |
C |
2: 87,698,713 (GRCm39) |
I126T |
probably damaging |
Het |
Or6c209 |
T |
A |
10: 129,483,366 (GRCm39) |
I123N |
probably damaging |
Het |
Pcdha5 |
A |
T |
18: 37,093,909 (GRCm39) |
R139S |
probably benign |
Het |
Pik3r1 |
G |
A |
13: 101,845,490 (GRCm39) |
S147L |
probably benign |
Het |
Plppr4 |
T |
A |
3: 117,115,754 (GRCm39) |
H701L |
possibly damaging |
Het |
Pnpla1 |
T |
C |
17: 29,095,791 (GRCm39) |
Y71H |
probably damaging |
Het |
Ppp1r12c |
G |
A |
7: 4,486,970 (GRCm39) |
A521V |
probably benign |
Het |
Rasgrp3 |
C |
A |
17: 75,804,055 (GRCm39) |
D119E |
probably damaging |
Het |
Rnf216 |
A |
T |
5: 143,075,557 (GRCm39) |
D342E |
probably damaging |
Het |
Rnpc3 |
A |
T |
3: 113,410,410 (GRCm39) |
S294T |
probably benign |
Het |
Sepsecs |
A |
G |
5: 52,801,397 (GRCm39) |
F422L |
probably damaging |
Het |
Sgcz |
T |
A |
8: 38,420,200 (GRCm39) |
E17D |
probably benign |
Het |
Slc2a5 |
T |
C |
4: 150,210,107 (GRCm39) |
Y31H |
probably damaging |
Het |
Spag9 |
A |
G |
11: 93,958,906 (GRCm39) |
E310G |
probably benign |
Het |
Stat4 |
A |
G |
1: 52,117,733 (GRCm39) |
Y288C |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,668,671 (GRCm39) |
|
probably null |
Het |
Trim62 |
A |
G |
4: 128,790,664 (GRCm39) |
T154A |
probably benign |
Het |
Tubb4a |
T |
C |
17: 57,388,642 (GRCm39) |
D128G |
probably damaging |
Het |
Ube3d |
G |
A |
9: 86,304,939 (GRCm39) |
A301V |
possibly damaging |
Het |
Utp6 |
A |
G |
11: 79,833,012 (GRCm39) |
S444P |
possibly damaging |
Het |
Vasn |
T |
C |
16: 4,467,345 (GRCm39) |
C431R |
probably damaging |
Het |
Zfp260 |
T |
C |
7: 29,804,291 (GRCm39) |
S64P |
probably damaging |
Het |
Zfp451 |
A |
T |
1: 33,808,840 (GRCm39) |
M1007K |
probably damaging |
Het |
Zfp606 |
C |
A |
7: 12,226,868 (GRCm39) |
Q330K |
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 |
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 |
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'- AGGTTTCTCCTGGAACTTCCG -3'
(R):5'- TCATTTCCATAGGCAGAGGAC -3'
Sequencing Primer
(F):5'- AACTTCCGGGTACAGGGTGATTC -3'
(R):5'- TTTCCATAGGCAGAGGACAGTGG -3'
|
Posted On |
2020-01-29 |