Incidental Mutation 'R3875:Mlph'
ID 276771
Institutional Source Beutler Lab
Gene Symbol Mlph
Ensembl Gene ENSMUSG00000026303
Gene Name melanophilin
Synonyms D1Wsu84e, Slac-2a
MMRRC Submission 068967-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R3875 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 90842807-90878864 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90855844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 57 (C57R)
Ref Sequence ENSEMBL: ENSMUSP00000123314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027528] [ENSMUST00000125149]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027528
AA Change: C84R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027528
Gene: ENSMUSG00000026303
AA Change: C84R

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
Predicted Effect probably damaging
Transcript: ENSMUST00000125149
AA Change: C57R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123314
Gene: ENSMUSG00000026303
AA Change: C57R

DomainStartEndE-ValueType
Pfam:FYVE_2 10 98 1.3e-36 PFAM
Meta Mutation Damage Score 0.9688 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 100% (50/50)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T C 2: 152,276,000 (GRCm39) S72P probably benign Het
Abca5 T A 11: 110,201,059 (GRCm39) Y447F probably damaging Het
Adgrg2 A G X: 159,261,992 (GRCm39) S337G probably benign Het
Akap12 G A 10: 4,307,590 (GRCm39) V1467I probably benign Het
Baz2a T A 10: 127,959,979 (GRCm39) M1419K probably damaging Het
Cacna1g G A 11: 94,328,749 (GRCm39) T1033I probably damaging Het
Car12 C A 9: 66,624,834 (GRCm39) probably benign Het
Cpne1 G A 2: 155,918,202 (GRCm39) H352Y probably damaging Het
D630039A03Rik T A 4: 57,910,606 (GRCm39) T69S probably benign Het
Dhodh T C 8: 110,321,592 (GRCm39) D310G probably null Het
Dnah2 A G 11: 69,320,174 (GRCm39) I3965T probably damaging Het
Drd5 T G 5: 38,477,157 (GRCm39) V50G possibly damaging Het
Dst C A 1: 34,210,328 (GRCm39) H934Q probably damaging Het
Eif1ad10 T C 12: 88,216,476 (GRCm39) D132G unknown Het
Far2 G A 6: 148,052,089 (GRCm39) E123K probably benign Het
Fbxo43 A T 15: 36,162,249 (GRCm39) F319L probably benign Het
Flii T C 11: 60,611,318 (GRCm39) S418G probably benign Het
Glyctk T A 9: 106,034,820 (GRCm39) Y82F probably damaging Het
Gm11353 G T 13: 26,676,651 (GRCm39) noncoding transcript Het
Gm6505 T A 3: 28,819,286 (GRCm39) noncoding transcript Het
Gpr151 A G 18: 42,711,661 (GRCm39) V339A probably benign Het
H2-T22 T C 17: 36,351,195 (GRCm39) I296V probably benign Het
Igfn1 T C 1: 135,882,352 (GRCm39) N2831S probably damaging Het
Igkv13-85 A G 6: 68,907,484 (GRCm39) V39A probably damaging Het
Irx5 A G 8: 93,086,793 (GRCm39) T242A probably benign Het
Krt26 T C 11: 99,225,570 (GRCm39) K304E probably damaging Het
Mcoln1 A G 8: 3,558,355 (GRCm39) D203G probably benign Het
Myh13 C A 11: 67,249,020 (GRCm39) H1275Q probably benign Het
Nbeal1 T A 1: 60,233,758 (GRCm39) probably benign Het
Orc5 T A 5: 22,742,564 (GRCm39) M115L probably benign Het
Pcdha6 T A 18: 37,101,119 (GRCm39) I104N probably damaging Het
Plcb4 T C 2: 135,844,552 (GRCm39) S157P probably damaging Het
Polq A G 16: 36,894,389 (GRCm39) D1787G probably damaging Het
Prkar2b T G 12: 32,015,122 (GRCm39) I142L probably benign Het
Ptprq A G 10: 107,520,965 (GRCm39) S736P possibly damaging Het
Qrich2 A T 11: 116,336,477 (GRCm39) V2046D probably damaging Het
Rad21 A T 15: 51,833,361 (GRCm39) F373I probably damaging Het
Rcvrn A G 11: 67,590,880 (GRCm39) I155V probably benign Het
Rsrc2 C T 5: 123,874,691 (GRCm39) probably benign Het
Sgsh A G 11: 119,241,773 (GRCm39) L111P probably damaging Het
Ssc5d A T 7: 4,930,261 (GRCm39) D114V probably damaging Het
St6gal2 C A 17: 55,789,698 (GRCm39) P244Q probably benign Het
Tarbp1 A G 8: 127,165,538 (GRCm39) probably benign Het
Tmem221 T C 8: 72,008,399 (GRCm39) probably null Het
Trh A T 6: 92,220,679 (GRCm39) V61E possibly damaging Het
Trim32 A T 4: 65,531,703 (GRCm39) I87F possibly damaging Het
Tti2 A G 8: 31,641,175 (GRCm39) K100E probably benign Het
Usp34 C T 11: 23,439,033 (GRCm39) P3532S possibly damaging Het
Vps13d A G 4: 144,917,114 (GRCm39) Y17H probably damaging Het
Zfp106 T C 2: 120,365,094 (GRCm39) K438E probably benign Het
Zfp60 T C 7: 27,449,006 (GRCm39) I558T probably damaging Het
Zzef1 A C 11: 72,779,866 (GRCm39) I1880L probably benign 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
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'- TCACTGGTCGGTTGTAGAAAC -3'
(R):5'- CCAGAGAACCGATCTTCACG -3'

Sequencing Primer
(F):5'- ATTTTTTCCCAAGGGGGC -3'
(R):5'- GAGAACCGATCTTCACGACCCTG -3'
Posted On 2015-04-06