Mutagenetix > Incidental Mutation

Incidental Mutation 'R1643:Mlph'

173651

Institutional Source

Beutler Lab

Gene Symbol

Mlph

Ensembl Gene

ENSMUSG00000026303

Gene Name

melanophilin

Synonyms

D1Wsu84e, Slac-2a

MMRRC Submission

039679-MU

Accession Numbers

Essential gene?

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

Stock #

R1643 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90842807-90878864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90869456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 486 (L486P)

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: L486P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027528
Gene: ENSMUSG00000026303
AA Change: L486P

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

0.1507

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.5%

Validation Efficiency

99% (74/75)

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
1700037C18Rik	T	A	16: 3,724,942 (GRCm39)	K45*	probably null	Het
Abcc1	T	A	16: 14,231,232 (GRCm39)	Y457N	probably damaging	Het
Actr3b	A	G	5: 26,017,009 (GRCm39)	D19G	probably damaging	Het
Adam39	T	C	8: 41,279,523 (GRCm39)	V638A	possibly damaging	Het
Adamts1	G	T	16: 85,593,705 (GRCm39)		probably benign	Het
AI661453	A	G	17: 47,778,791 (GRCm39)		probably benign	Het
Ank3	G	A	10: 69,720,632 (GRCm39)	S565N	probably benign	Het
Casd1	A	G	6: 4,621,243 (GRCm39)	E267G	probably benign	Het
Casr	T	C	16: 36,320,567 (GRCm39)	K527R	probably damaging	Het
Cep128	A	C	12: 91,292,306 (GRCm39)	S248A	probably damaging	Het
Clic4	A	G	4: 134,966,206 (GRCm39)	V50A	possibly damaging	Het
Cylc2	C	T	4: 51,225,173 (GRCm39)	A36V	probably benign	Het
Derl1	T	A	15: 57,741,955 (GRCm39)	M127L	probably benign	Het
Dnah6	A	G	6: 73,021,735 (GRCm39)	V3529A	possibly damaging	Het
Dock1	G	T	7: 134,700,508 (GRCm39)	L1089F	probably damaging	Het
Edil3	T	A	13: 89,437,695 (GRCm39)		probably null	Het
Efcab3	A	T	11: 104,589,804 (GRCm39)	T134S	probably benign	Het
Ephb1	A	G	9: 101,874,024 (GRCm39)	V550A	probably damaging	Het
Fcho2	G	A	13: 98,921,324 (GRCm39)	T187I	probably benign	Het
Gas6	T	C	8: 13,515,902 (GRCm39)		probably null	Het
Gdf7	T	C	12: 8,347,971 (GRCm39)	Y442C	probably damaging	Het
Gm11567	G	A	11: 99,770,623 (GRCm39)	G187E	unknown	Het
Gm8674	T	C	13: 50,055,394 (GRCm39)		noncoding transcript	Het
Ift80	T	A	3: 68,823,490 (GRCm39)	I591F	probably benign	Het
Kcnn3	C	T	3: 89,427,804 (GRCm39)	S10L	unknown	Het
Keg1	A	G	19: 12,696,406 (GRCm39)	I197V	probably benign	Het
Klhdc9	A	G	1: 171,187,034 (GRCm39)		probably null	Het
Klhl11	A	G	11: 100,353,841 (GRCm39)	V660A	probably benign	Het
Lamc1	T	C	1: 153,133,818 (GRCm39)		probably benign	Het
Lrrc73	G	T	17: 46,566,266 (GRCm39)		probably null	Het
Lrriq1	G	A	10: 103,050,685 (GRCm39)	S689L	probably benign	Het
Magi2	A	G	5: 20,910,504 (GRCm39)		probably benign	Het
Meis1	A	G	11: 18,966,278 (GRCm39)	S32P	probably benign	Het
Mia2	A	G	12: 59,226,631 (GRCm39)		probably null	Het
Myh10	A	G	11: 68,682,836 (GRCm39)	E1090G	probably damaging	Het
Mylk	T	C	16: 34,696,005 (GRCm39)	S247P	probably benign	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Ndufc1	T	C	3: 51,315,664 (GRCm39)	T25A	probably benign	Het
Nedd4l	A	G	18: 65,331,712 (GRCm39)	Y636C	probably damaging	Het
Nfib	A	T	4: 82,416,916 (GRCm39)	Y40N	probably damaging	Het
Niban3	A	G	8: 72,052,808 (GRCm39)	D94G	probably benign	Het
Nisch	T	C	14: 30,895,125 (GRCm39)	D1057G	probably damaging	Het
P3h2	T	C	16: 25,791,041 (GRCm39)	H475R	probably benign	Het
Pde6c	C	A	19: 38,150,406 (GRCm39)	T517K	possibly damaging	Het
Piezo2	T	C	18: 63,215,986 (GRCm39)	I994V	probably benign	Het
Pik3r4	A	G	9: 105,564,351 (GRCm39)	D1315G	possibly damaging	Het
Pip5k1c	T	G	10: 81,150,828 (GRCm39)	V46G	probably damaging	Het
Pole	A	G	5: 110,465,711 (GRCm39)	E1213G	probably damaging	Het
Prl7d1	T	C	13: 27,896,114 (GRCm39)	S88G	possibly damaging	Het
Prodh	T	A	16: 17,898,933 (GRCm39)	N72I	probably benign	Het
Prrc2a	G	A	17: 35,375,930 (GRCm39)	R907C	probably damaging	Het
Ptger2	T	A	14: 45,226,423 (GRCm39)	M1K	probably null	Het
Samd4b	G	C	7: 28,123,041 (GRCm39)	Q6E	probably damaging	Het
Sec24a	C	T	11: 51,595,212 (GRCm39)	R916H	probably benign	Het
Slc12a5	C	A	2: 164,835,947 (GRCm39)	D865E	probably benign	Het
Slc17a3	T	C	13: 24,041,181 (GRCm39)		probably benign	Het
Ssrp1	T	C	2: 84,871,529 (GRCm39)	V317A	possibly damaging	Het
Stim1	A	G	7: 102,035,307 (GRCm39)	D95G	possibly damaging	Het
Taok2	A	T	7: 126,475,110 (GRCm39)		probably benign	Het
Tcof1	T	G	18: 60,949,300 (GRCm39)	K1205T	possibly damaging	Het
Trim43c	C	T	9: 88,729,530 (GRCm39)	R325C	probably damaging	Het
Trub2	T	G	2: 29,667,948 (GRCm39)	T231P	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uty	T	A	Y: 1,152,054 (GRCm39)	D724V	probably damaging	Het
Vmn2r98	A	G	17: 19,301,170 (GRCm39)	D724G	probably damaging	Het
Wdfy3	A	G	5: 102,023,781 (GRCm39)	I2442T	possibly damaging	Het
Wdfy4	T	C	14: 32,795,542 (GRCm39)		probably null	Het
Zfp280b	A	G	10: 75,875,444 (GRCm39)	H441R	probably damaging	Het
Zfp60	A	T	7: 27,436,400 (GRCm39)	Q7L	probably damaging	Het
Zzef1	T	C	11: 72,717,028 (GRCm39)	L406S	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
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
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'- CCTCTAGCTTCAGTGGGAAGAGTAGC -3'
(R):5'- GTGGCAAACATGATTAGCAGCATCAAG -3'

Sequencing Primer
(F):5'- agctgtgcctccagAGAG -3'
(R):5'- AGAAAATCAGACCTGTTCCTCTC -3'

Posted On

2014-04-24