Mutagenetix > Incidental Mutation

Incidental Mutation 'R5588:Mlph'

438861

Institutional Source

Beutler Lab

Gene Symbol

Mlph

Ensembl Gene

ENSMUSG00000026303

Gene Name

melanophilin

Synonyms

D1Wsu84e, Slac-2a

MMRRC Submission

043268-MU

Accession Numbers

Essential gene?

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

Stock #

R5588 (G1)

Quality Score

130

Status

Not validated

Chromosome

Chromosomal Location

90842807-90878864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90859321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 219 (S219P)

Ref Sequence

ENSEMBL: ENSMUSP00000027528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027528] [ENSMUST00000125149]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027528
AA Change: S219P

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027528
Gene: ENSMUSG00000026303
AA Change: S219P

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	C	A	15: 81,949,417 (GRCm39)	Q1105K	possibly damaging	Het
Afg3l2	A	T	18: 67,573,277 (GRCm39)	V175D	possibly damaging	Het
Aldh1a2	G	A	9: 71,190,732 (GRCm39)	R325H	probably damaging	Het
Arhgef18	T	A	8: 3,438,878 (GRCm39)		probably benign	Het
Atp8a1	A	G	5: 67,972,027 (GRCm39)	L43P	probably damaging	Het
Bdh1	T	C	16: 31,256,937 (GRCm39)		probably null	Het
Ccdc85c	T	C	12: 108,177,793 (GRCm39)	Y320C	probably damaging	Het
Cobl	A	T	11: 12,293,886 (GRCm39)	L290*	probably null	Het
Cyp2c66	A	G	19: 39,151,858 (GRCm39)	D191G	possibly damaging	Het
Dhx34	T	C	7: 15,932,825 (GRCm39)	H1038R	probably damaging	Het
Eea1	T	C	10: 95,859,772 (GRCm39)	V686A	probably benign	Het
Eif2b4	A	T	5: 31,349,517 (GRCm39)	C101*	probably null	Het
Eif4a3	A	C	11: 119,186,952 (GRCm39)	S84A	probably benign	Het
Elfn2	T	C	15: 78,558,076 (GRCm39)	D157G	probably damaging	Het
Fat2	T	A	11: 55,173,103 (GRCm39)	I2537F	probably damaging	Het
Fbxo38	A	G	18: 62,659,248 (GRCm39)	F350L	probably damaging	Het
Fgd3	A	T	13: 49,440,786 (GRCm39)	L215Q	probably damaging	Het
Fhdc1	A	G	3: 84,372,783 (GRCm39)	V73A	possibly damaging	Het
Gapvd1	T	A	2: 34,599,166 (GRCm39)	T690S	probably damaging	Het
Gask1a	C	T	9: 121,794,247 (GRCm39)	Q134*	probably null	Het
Gm14418	A	T	2: 177,079,065 (GRCm39)	I310K	probably benign	Het
Gm5141	A	T	13: 62,921,584 (GRCm39)	N528K	probably benign	Het
Gsap	A	C	5: 21,456,147 (GRCm39)	E417A	probably damaging	Het
Kcnab1	A	C	3: 65,283,976 (GRCm39)	D398A	possibly damaging	Het
Kif5b	T	G	18: 6,225,787 (GRCm39)	N160T	probably benign	Het
Lilrb4b	G	A	10: 51,357,422 (GRCm39)	R86Q	probably benign	Het
Lmo7	T	C	14: 102,134,026 (GRCm39)		probably null	Het
Ncapg2	T	C	12: 116,376,697 (GRCm39)	I95T	possibly damaging	Het
Nedd9	A	T	13: 41,469,437 (GRCm39)	I572N	possibly damaging	Het
Nup155	G	A	15: 8,148,737 (GRCm39)		probably null	Het
Olfml2a	T	C	2: 38,850,047 (GRCm39)	S588P	probably damaging	Het
Or4a68	T	C	2: 89,269,760 (GRCm39)	R288G	probably damaging	Het
Or4c12	T	A	2: 89,774,136 (GRCm39)	T108S	probably benign	Het
Or6c1	T	G	10: 129,517,705 (GRCm39)	N301T	possibly damaging	Het
Parva	C	A	7: 112,159,269 (GRCm39)	N142K	possibly damaging	Het
Pclo	T	A	5: 14,838,412 (GRCm39)	S4678R	unknown	Het
Pcnt	T	C	10: 76,278,445 (GRCm39)	D3G	possibly damaging	Het
Pdzd2	A	C	15: 12,374,367 (GRCm39)	S1923A	possibly damaging	Het
Per1	G	A	11: 68,998,453 (GRCm39)	G1055D	probably damaging	Het
Phf8-ps	G	A	17: 33,285,249 (GRCm39)	Q518*	probably null	Het
Plb1	G	A	5: 32,487,293 (GRCm39)		probably null	Het
Ppp1r14a	C	T	7: 28,992,709 (GRCm39)	P137L	probably damaging	Het
Rfx2	A	T	17: 57,086,890 (GRCm39)	S612T	possibly damaging	Het
Rtel1	T	C	2: 180,993,893 (GRCm39)	F642L	probably benign	Het
Sec14l3	T	C	11: 4,016,138 (GRCm39)	F19S	probably damaging	Het
Skint8	A	T	4: 111,794,089 (GRCm39)	M160L	probably benign	Het
Slc19a3	G	T	1: 83,000,776 (GRCm39)	Y80*	probably null	Het
Slc37a1	T	A	17: 31,565,431 (GRCm39)	W489R	probably damaging	Het
Smc4	A	G	3: 68,933,190 (GRCm39)	I604V	probably benign	Het
Srprb	G	T	9: 103,076,048 (GRCm39)	Y796*	probably null	Het
Tdrd7	T	A	4: 45,992,225 (GRCm39)	S220T	probably benign	Het
Tex15	T	C	8: 34,067,215 (GRCm39)	F2215S	probably damaging	Het
Ticrr	C	T	7: 79,328,853 (GRCm39)	A664V	probably damaging	Het
Tnc	T	G	4: 63,924,659 (GRCm39)	D1013A	possibly damaging	Het
Tpte	T	A	8: 22,774,983 (GRCm39)	Y18N	possibly damaging	Het
Ubqlnl	T	A	7: 103,798,339 (GRCm39)	Q386L	probably damaging	Het
Vmn1r194	T	C	13: 22,428,512 (GRCm39)	V43A	possibly damaging	Het
Vmn2r130	A	T	17: 23,282,803 (GRCm39)	Q161L	probably benign	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Zfhx4	T	G	3: 5,468,198 (GRCm39)	D2785E	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
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'- CAGGGCTCCTTTGGATCAGTTTC -3'
(R):5'- AAAGTCCCTTTGCCTTGAGAG -3'

Sequencing Primer
(F):5'- TCTAGCTAGAGATAGGTGTCCC -3'
(R):5'- CCTTGAGAGTCTGATGTGACCAC -3'

Posted On

2016-10-26