Mutagenetix > Incidental Mutation

Incidental Mutation 'R7019:Mlph'

545485

Institutional Source

Beutler Lab

Gene Symbol

Mlph

Ensembl Gene

ENSMUSG00000026303

Gene Name

melanophilin

Synonyms

D1Wsu84e, Slac-2a

MMRRC Submission

045120-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R7019 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90842807-90878864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90869428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 477 (R477G)

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: R477G

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

SMART Domains

Protein: ENSMUSP00000027528
Gene: ENSMUSG00000026303
AA Change: R477G

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

Meta Mutation Damage Score

0.1294

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	A	T	16: 8,436,395 (GRCm39)	K414*	probably null	Het
Aco1	T	A	4: 40,186,376 (GRCm39)	I596N	probably damaging	Het
Adgre1	A	C	17: 57,717,945 (GRCm39)	D319A	probably damaging	Het
Birc6	T	C	17: 74,916,340 (GRCm39)	V445A	probably benign	Het
Btd	A	C	14: 31,389,062 (GRCm39)	Q261P	probably damaging	Het
Btd	G	T	14: 31,389,063 (GRCm39)	Q261H	possibly damaging	Het
C7	T	A	15: 5,075,164 (GRCm39)	Y176F	probably benign	Het
Ccdc102a	T	C	8: 95,636,431 (GRCm39)	S287G	probably benign	Het
Ccdc178	T	A	18: 22,283,495 (GRCm39)	T12S	probably benign	Het
Cnga4	G	T	7: 105,055,036 (GRCm39)	A104S	probably benign	Het
Col10a1	G	T	10: 34,270,947 (GRCm39)	L306F	probably damaging	Het
Cpne5	T	C	17: 29,445,196 (GRCm39)	D36G	probably damaging	Het
Csmd2	G	A	4: 128,262,856 (GRCm39)	D681N		Het
Cspg4b	C	T	13: 113,488,284 (GRCm39)	T102I	probably benign	Het
Cstl1	A	G	2: 148,597,223 (GRCm39)	M75V	probably benign	Het
Cyp26a1	T	C	19: 37,687,260 (GRCm39)	L149P	probably damaging	Het
D630045J12Rik	T	G	6: 38,171,570 (GRCm39)	E866A	probably benign	Het
Dlec1	C	T	9: 118,941,490 (GRCm39)	P292L	probably benign	Het
Dpp3	T	G	19: 4,966,817 (GRCm39)	E402A	possibly damaging	Het
Egf	T	C	3: 129,511,713 (GRCm39)		probably null	Het
Epha5	T	C	5: 84,564,321 (GRCm39)	Q15R	possibly damaging	Het
Esyt3	A	G	9: 99,197,338 (GRCm39)	F831L	probably benign	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fut7	A	G	2: 25,315,792 (GRCm39)	D350G	probably benign	Het
Gab1	C	A	8: 81,511,446 (GRCm39)	E466D	probably damaging	Het
Glrp1	A	T	1: 88,430,890 (GRCm39)	M160K	unknown	Het
Gngt1	T	C	6: 3,994,088 (GRCm39)		probably null	Het
Gprc6a	A	T	10: 51,507,508 (GRCm39)	V7E	possibly damaging	Het
Idh3b	A	T	2: 130,122,886 (GRCm39)	V301D	probably damaging	Het
Ifi202b	A	C	1: 173,791,524 (GRCm39)	C385G	probably benign	Het
Ilvbl	T	A	10: 78,414,920 (GRCm39)	L261Q	probably damaging	Het
Irx6	T	A	8: 93,405,362 (GRCm39)	L410Q	probably damaging	Het
Ism2	T	C	12: 87,346,437 (GRCm39)	M15V	unknown	Het
Itih5	C	A	2: 10,195,138 (GRCm39)	R177S	probably damaging	Het
Klra3	C	T	6: 130,304,087 (GRCm39)	G202R	probably damaging	Het
Krt7	T	C	15: 101,311,851 (GRCm39)	V103A	probably damaging	Het
Lama3	T	C	18: 12,661,475 (GRCm39)	S2145P	probably damaging	Het
Mybpc1	T	A	10: 88,379,581 (GRCm39)	L653F	probably damaging	Het
Myrfl	A	G	10: 116,617,852 (GRCm39)		probably null	Het
Myrip	T	G	9: 120,251,573 (GRCm39)	L232R	probably damaging	Het
Nrdc	A	T	4: 108,885,999 (GRCm39)	H126L	probably benign	Het
Or4n5	A	T	14: 50,133,124 (GRCm39)	I45N	probably damaging	Het
Or5p50	G	T	7: 107,422,365 (GRCm39)	L104I	probably benign	Het
Or8c11	T	A	9: 38,290,098 (GRCm39)	L307Q	possibly damaging	Het
Pcdhb10	T	A	18: 37,546,056 (GRCm39)	N377K	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Prkdc	A	C	16: 15,587,830 (GRCm39)	I2572L	probably benign	Het
Ptpro	C	A	6: 137,357,476 (GRCm39)	D322E	probably benign	Het
R3hcc1	A	G	14: 69,941,574 (GRCm39)	I332T	probably damaging	Het
Rab8a	T	C	8: 72,915,227 (GRCm39)	F9L	probably damaging	Het
Ranbp3l	A	T	15: 9,057,241 (GRCm39)	K165N	probably damaging	Het
Rock2	T	A	12: 17,027,741 (GRCm39)	C1353S	probably damaging	Het
Rsad2	T	A	12: 26,506,418 (GRCm39)	M1L	possibly damaging	Het
Tymp	A	T	15: 89,260,484 (GRCm39)		probably null	Het
Vmn1r104	A	G	7: 20,268,491 (GRCm39)	M244V	probably benign	Het
Vmn1r232	G	A	17: 21,133,547 (GRCm39)	T351M	possibly damaging	Het
Vmn2r50	A	G	7: 9,784,172 (GRCm39)	Y101H	probably benign	Het
Vmn2r57	A	G	7: 41,078,089 (GRCm39)	L123P	probably damaging	Het
Wdr17	T	C	8: 55,134,488 (GRCm39)	N331D	probably damaging	Het
Wdr47	C	T	3: 108,521,671 (GRCm39)	Q89*	probably null	Het
Zcchc4	A	T	5: 52,941,375 (GRCm39)	T57S	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
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'- GGATTAATCCGAGTTGCCCC -3'
(R):5'- TGGCAAACATGATTAGCAGC -3'

Sequencing Primer
(F):5'- TCATCCTACACGGAGGAGC -3'
(R):5'- GAAAATCAGACCTGTTCCTCTCTAGG -3'

Posted On

2019-05-13