Incidental Mutation 'R7899:Mlph'
ID 609854
Institutional Source Beutler Lab
Gene Symbol Mlph
Ensembl Gene ENSMUSG00000026303
Gene Name melanophilin
Synonyms D1Wsu84e, Slac-2a
MMRRC Submission 045951-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7899 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 90842807-90878864 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 90869485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 496 (R496*)
Ref Sequence ENSEMBL: ENSMUSP00000027528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027528]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000027528
AA Change: R496*
SMART Domains Protein: ENSMUSP00000027528
Gene: ENSMUSG00000026303
AA Change: R496*

DomainStartEndE-ValueType
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 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 97% (70/72)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500011B03Rik T C 5: 114,947,381 (GRCm39) T49A possibly damaging Het
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Aagab T C 9: 63,524,132 (GRCm39) F80L probably benign Het
Aox1 A G 1: 58,320,396 (GRCm39) probably null Het
Arhgef2 T C 3: 88,528,569 (GRCm39) S2P probably damaging Het
Bcar3 T G 3: 122,301,902 (GRCm39) V199G probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cacna1a G A 8: 85,320,802 (GRCm39) V1587M possibly damaging Het
Caps2 C A 10: 112,001,666 (GRCm39) S19Y possibly damaging Het
Ccdc196 A G 12: 78,244,196 (GRCm39) N50D Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cobll1 A G 2: 64,956,275 (GRCm39) C328R probably damaging Het
Colec11 A C 12: 28,645,281 (GRCm39) V130G probably damaging Het
Dennd5b A T 6: 148,943,159 (GRCm39) D572E probably damaging Het
Dido1 A T 2: 180,313,390 (GRCm39) S961T possibly damaging Het
Dnah7c A T 1: 46,553,861 (GRCm39) M380L probably benign Het
Dnai2 T C 11: 114,629,456 (GRCm39) I161T probably benign Het
Dnttip2 T A 3: 122,076,018 (GRCm39) M650K probably damaging Het
Dpp6 C T 5: 27,926,077 (GRCm39) P717L probably benign Het
Epha10 A G 4: 124,808,628 (GRCm39) E759G Het
Frmd4a T C 2: 4,608,900 (GRCm39) W923R probably damaging Het
Ftsj3 C A 11: 106,143,115 (GRCm39) E400* probably null Het
Gabra4 C A 5: 71,815,338 (GRCm39) probably benign Het
Gfm1 T A 3: 67,380,860 (GRCm39) N658K probably benign Het
Gm21560 A T 14: 6,218,220 (GRCm38) I86N probably damaging Het
Gpr68 C A 12: 100,844,707 (GRCm39) C279F probably damaging Het
Hspg2 G A 4: 137,275,427 (GRCm39) A2752T possibly damaging Het
Hydin A T 8: 111,314,380 (GRCm39) D4288V probably benign Het
Ift74 A G 4: 94,510,214 (GRCm39) T82A possibly damaging Het
Ints7 T A 1: 191,353,427 (GRCm39) W918R probably damaging Het
Kcnc1 T A 7: 46,077,245 (GRCm39) I349N probably damaging Het
Loxl1 C T 9: 58,198,117 (GRCm39) D580N probably damaging Het
Mtdh A G 15: 34,123,865 (GRCm39) D364G possibly damaging Het
Mtmr11 C A 3: 96,077,744 (GRCm39) L580I probably damaging Het
Muc16 T C 9: 18,551,993 (GRCm39) I4767V probably benign Het
Muc21 TCAGGGTGGGGGTAGAGCCTGAGCCACTGCTAGATGCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAG TCAGGGTGGGGGTAGAGCCTGAG 17: 35,931,493 (GRCm39) probably benign Het
Myot A G 18: 44,487,251 (GRCm39) T363A probably benign Het
Nfxl1 G A 5: 72,681,558 (GRCm39) P658S probably damaging Het
Nhlrc3 A C 3: 53,369,080 (GRCm39) S120A probably benign Het
Nmur2 C A 11: 55,931,161 (GRCm39) Q183H probably benign Het
Nucb2 T A 7: 116,121,205 (GRCm39) I45K probably benign Het
Nup155 A T 15: 8,148,663 (GRCm39) D277V probably damaging Het
Or5ak25 T C 2: 85,268,741 (GRCm39) T254A probably benign Het
Orc1 T G 4: 108,460,568 (GRCm39) probably null Het
Panx2 A G 15: 88,952,936 (GRCm39) T468A possibly damaging Het
Pcdh7 A G 5: 57,877,152 (GRCm39) S236G probably benign Het
Pcdhga2 G C 18: 37,803,910 (GRCm39) G585R probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pgr T G 9: 8,903,743 (GRCm39) M588R probably benign Het
Ptpn18 A T 1: 34,508,986 (GRCm39) probably null Het
Rbm8a2 T A 1: 175,806,207 (GRCm39) H90L probably benign Het
Ryr3 A T 2: 112,477,295 (GRCm39) L4507Q possibly damaging Het
Serpina12 A G 12: 104,004,524 (GRCm39) V36A probably benign Het
Sis T A 3: 72,844,584 (GRCm39) S717C probably damaging Het
Slit2 A G 5: 48,404,527 (GRCm39) E846G possibly damaging Het
Smr3a C T 5: 88,156,086 (GRCm39) H85Y unknown Het
Sned1 G C 1: 93,201,804 (GRCm39) R590P probably benign Het
Spata31h1 A G 10: 82,118,731 (GRCm39) S4760P unknown Het
Sting1 A G 18: 35,867,626 (GRCm39) S357P probably damaging Het
Sult2a7 A G 7: 14,199,134 (GRCm39) Y298H probably damaging Het
Syn3 A G 10: 85,900,793 (GRCm39) V365A possibly damaging Het
Syne1 A T 10: 5,177,956 (GRCm39) Y4839* probably null Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tbl3 G T 17: 24,921,458 (GRCm39) H478N probably damaging Het
Tcirg1 A T 19: 3,949,104 (GRCm39) I395N probably damaging Het
Ticrr T C 7: 79,319,233 (GRCm39) I406T probably benign Het
Tmem120a C A 5: 135,766,052 (GRCm39) K123N probably benign Het
Tmem184c A G 8: 78,324,440 (GRCm39) V350A probably damaging Het
Tmem70 G T 1: 16,747,268 (GRCm39) M128I probably benign Het
Tmx3 A T 18: 90,545,998 (GRCm39) probably null Het
Topors G C 4: 40,260,356 (GRCm39) S976W unknown Het
Trp53 T C 11: 69,481,519 (GRCm39) L341P probably damaging Het
Usp14 T C 18: 10,000,563 (GRCm39) K366E possibly damaging Het
Zbtb49 G T 5: 38,371,274 (GRCm39) C202* probably null Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging Het
Other mutations in Mlph
AlleleSourceChrCoordTypePredicted EffectPPH 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
R7507:Mlph UTSW 1 90,855,429 (GRCm39) start gained probably benign
R7648:Mlph UTSW 1 90,861,248 (GRCm39) splice site 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'- TCTGAGCTGGCCATCTTTATG -3'
(R):5'- CGAATGGGAATGCATGCACC -3'

Sequencing Primer
(F):5'- AGCTGGCCATCTTTATGATCTGAGAG -3'
(R):5'- GAACTCAAGCCATTATGCCTGTGTG -3'
Posted On 2019-12-20