Mutagenetix > Incidental Mutation

Incidental Mutation 'R4963:Mlph'

383692

Institutional Source

Beutler Lab

Gene Symbol

Mlph

Ensembl Gene

ENSMUSG00000026303

Gene Name

melanophilin

Synonyms

D1Wsu84e, Slac-2a

MMRRC Submission

042560-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R4963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90842807-90878864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90867112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 378 (D378G)

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: D378G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027528
Gene: ENSMUSG00000026303
AA Change: D378G

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

Meta Mutation Damage Score

0.2903

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (74/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,470,582 (GRCm39)	I133N	probably benign	Het
Abca15	T	C	7: 119,960,142 (GRCm39)	S642P	probably damaging	Het
Abcg5	G	T	17: 84,967,569 (GRCm39)	Y410*	probably null	Het
Anapc7	T	A	5: 122,560,669 (GRCm39)	M10K	probably damaging	Het
Ank2	G	A	3: 126,825,745 (GRCm39)	T418M	probably benign	Het
Arhgap17	T	C	7: 122,907,583 (GRCm39)	R260G	possibly damaging	Het
Atp1a3	T	C	7: 24,694,051 (GRCm39)	T381A	probably damaging	Het
Cep89	T	G	7: 35,102,577 (GRCm39)	S97A	probably benign	Het
Cyp2j11	T	C	4: 96,204,619 (GRCm39)	D309G	probably damaging	Het
Dcbld2	T	C	16: 58,286,145 (GRCm39)	I768T	probably benign	Het
Defa41	C	T	8: 21,691,774 (GRCm39)	S52F	probably damaging	Het
Dgke	A	G	11: 88,941,628 (GRCm39)	V249A	possibly damaging	Het
Dnah9	T	C	11: 65,975,437 (GRCm39)		probably null	Het
Dnajc3	C	A	14: 119,215,585 (GRCm39)	H502N	probably benign	Het
Dsp	A	G	13: 38,381,846 (GRCm39)	T2265A	probably damaging	Het
Enpp6	A	G	8: 47,518,496 (GRCm39)	D208G	probably benign	Het
Evc	C	T	5: 37,479,393 (GRCm39)		probably null	Het
Fam98a	A	G	17: 75,845,977 (GRCm39)	S285P	probably damaging	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gsdmc	A	G	15: 63,676,229 (GRCm39)		probably null	Het
Gtpbp4	C	A	13: 9,035,253 (GRCm39)	D369Y	probably damaging	Het
H2-M1	A	G	17: 36,982,630 (GRCm39)	Y77H	probably benign	Het
Irx2	T	C	13: 72,780,729 (GRCm39)	V466A	possibly damaging	Het
Kcnh4	C	A	11: 100,643,079 (GRCm39)	W396L	probably damaging	Het
Kif27	T	C	13: 58,476,808 (GRCm39)	D614G	possibly damaging	Het
Kirrel2	C	A	7: 30,150,226 (GRCm39)		probably null	Het
Lcn5	A	G	2: 25,551,426 (GRCm39)	I182V	probably benign	Het
Ldb3	T	G	14: 34,288,815 (GRCm39)	S252R	probably damaging	Het
Marchf8	G	A	6: 116,363,232 (GRCm39)		probably benign	Het
Mdn1	C	A	4: 32,756,512 (GRCm39)	Q4735K	probably benign	Het
Mfrp	A	T	9: 44,014,561 (GRCm39)	H236L	probably benign	Het
Msi1	T	A	5: 115,588,944 (GRCm39)	Y320N	probably damaging	Het
Mtmr11	T	C	3: 96,070,567 (GRCm39)		probably benign	Het
Mtpap	T	C	18: 4,375,638 (GRCm39)	V6A	probably benign	Het
Nedd1	C	A	10: 92,530,893 (GRCm39)	D399Y	probably damaging	Het
Ninl	A	G	2: 150,781,829 (GRCm39)	Y234H	probably benign	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Nle1	A	G	11: 82,795,763 (GRCm39)	V228A	probably benign	Het
Npy4r	T	A	14: 33,868,973 (GRCm39)	D105V	probably damaging	Het
Or1f12	A	G	13: 21,722,152 (GRCm39)	Y8H	probably damaging	Het
Palld	C	T	8: 62,156,244 (GRCm39)	V464M	probably damaging	Het
Pclo	T	C	5: 14,719,235 (GRCm39)	V1124A	unknown	Het
Pex1	T	A	5: 3,659,924 (GRCm39)	M476K	probably benign	Het
Pkhd1l1	G	A	15: 44,367,421 (GRCm39)	S773N	probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Prmt9	A	G	8: 78,282,358 (GRCm39)	D85G	probably damaging	Het
Ptpn12	T	A	5: 21,220,706 (GRCm39)		probably null	Het
Rbm19	T	A	5: 120,279,631 (GRCm39)	M766K	probably damaging	Het
Rdh11	A	G	12: 79,235,380 (GRCm39)	V72A	probably benign	Het
Rxfp3	A	G	15: 11,036,367 (GRCm39)	V335A	probably damaging	Het
Sema6a	T	C	18: 47,431,318 (GRCm39)	K127E	possibly damaging	Het
Slc5a1	C	T	5: 33,318,126 (GRCm39)	T593I	probably benign	Het
Slco1a1	A	G	6: 141,868,825 (GRCm39)	F380L	probably benign	Het
Smc2	T	C	4: 52,450,826 (GRCm39)	S215P	probably damaging	Het
Smyd2	A	T	1: 189,614,385 (GRCm39)	V381E	probably damaging	Het
Smyd4	C	T	11: 75,273,120 (GRCm39)	S60L	probably benign	Het
Spata18	T	A	5: 73,836,336 (GRCm39)	V419E	probably damaging	Het
Terb1	A	G	8: 105,208,950 (GRCm39)	L376S	probably damaging	Het
Timd2	T	C	11: 46,573,617 (GRCm39)	E129G	possibly damaging	Het
Topbp1	C	A	9: 103,197,804 (GRCm39)	T461K	probably benign	Het
Tpp2	G	A	1: 44,031,428 (GRCm39)	R1069Q	probably damaging	Het
Ttn	A	G	2: 76,584,289 (GRCm39)	V22273A	probably damaging	Het
Tulp4	G	A	17: 6,249,088 (GRCm39)	E36K	probably damaging	Het
Uqcrfs1	A	T	13: 30,724,746 (GRCm39)	F265I	probably damaging	Het
Vmn2r107	A	T	17: 20,595,403 (GRCm39)	Q652L	probably damaging	Het
Vwf	C	T	6: 125,644,446 (GRCm39)	R2434*	probably null	Het
Wdhd1	A	G	14: 47,506,146 (GRCm39)	V256A	possibly damaging	Het
Zfp442	A	T	2: 150,250,415 (GRCm39)	C439S	probably damaging	Het
Zfp709	A	G	8: 72,643,632 (GRCm39)	T354A	probably benign	Het
Zswim2	A	T	2: 83,755,454 (GRCm39)	I149N	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
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'- ATGCACATTTATCCCAGTGAAC -3'
(R):5'- GTTACCTGTGTGATCTTATCAAGCCC -3'

Sequencing Primer
(F):5'- ATCCCAGTGAACATTTTTGGGGAC -3'
(R):5'- AATTAGCTGCCCTCTCTGCAAGG -3'

Posted On

2016-04-27