Incidental Mutation 'R7975:Mitf'
ID 650841
Institutional Source Beutler Lab
Gene Symbol Mitf
Ensembl Gene ENSMUSG00000035158
Gene Name melanogenesis associated transcription factor
Synonyms Gsfbcc2, mi, BCC2, bHLHe32, wh
MMRRC Submission 046018-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.929) question?
Stock # R7975 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 97784013-97998310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97994990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 479 (S479P)
Ref Sequence ENSEMBL: ENSMUSP00000044938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043628] [ENSMUST00000043637] [ENSMUST00000101123] [ENSMUST00000113339] [ENSMUST00000139462] [ENSMUST00000203884] [ENSMUST00000203938]
AlphaFold Q08874
Predicted Effect probably damaging
Transcript: ENSMUST00000043628
AA Change: S372P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044459
Gene: ENSMUSG00000035158
AA Change: S372P

DomainStartEndE-ValueType
HLH 210 263 5.53e-17 SMART
Pfam:DUF3371 290 416 9.5e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000043637
AA Change: S479P

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000044938
Gene: ENSMUSG00000035158
AA Change: S479P

DomainStartEndE-ValueType
low complexity region 34 44 N/A INTRINSIC
Pfam:MITF_TFEB_C_3_N 56 228 3.1e-52 PFAM
HLH 317 370 5.53e-17 SMART
Pfam:DUF3371 397 522 2.7e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101123
AA Change: S463P

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000098683
Gene: ENSMUSG00000035158
AA Change: S463P

DomainStartEndE-ValueType
coiled coil region 44 74 N/A INTRINSIC
HLH 301 354 5.53e-17 SMART
Pfam:DUF3371 381 507 4.8e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113339
AA Change: S454P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108965
Gene: ENSMUSG00000035158
AA Change: S454P

DomainStartEndE-ValueType
coiled coil region 35 65 N/A INTRINSIC
HLH 292 345 5.53e-17 SMART
Pfam:DUF3371 372 498 4.6e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139462
Predicted Effect probably benign
Transcript: ENSMUST00000203884
AA Change: S473P

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000145132
Gene: ENSMUSG00000035158
AA Change: S473P

DomainStartEndE-ValueType
low complexity region 34 44 N/A INTRINSIC
Pfam:MITF_TFEB_C_3_N 56 228 2.2e-49 PFAM
HLH 311 364 2.3e-19 SMART
Pfam:DUF3371 391 516 1.9e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203938
AA Change: S310P

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000144988
Gene: ENSMUSG00000035158
AA Change: S310P

DomainStartEndE-ValueType
Pfam:MITF_TFEB_C_3_N 7 60 2.2e-7 PFAM
HLH 148 201 2.3e-19 SMART
Pfam:DUF3371 228 353 9.2e-36 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: This transcription factor serves at a critical point between extracellular signaling and downstream targets in cell specification in early eye and neural crest development. Mutant alleles have been identified that generate distinct phenotypes. Some of these alleles are being used to model the human diseases Waardenburg syndrome IIa and Tietz syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations at this locus affect development of melanocytes, mast cells, osteoclasts and pigmented epithelium. Mutants variably display lack of pigment in coat and eye, microphthalmia, hearing loss, bone resorption anomalies, mast cell deficiency and lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 T C 10: 88,952,847 (GRCm39) I60V possibly damaging Het
Ano5 T A 7: 51,216,286 (GRCm39) M381K probably null Het
Aox1 T A 1: 58,348,187 (GRCm39) I635K probably benign Het
Bdp1 C T 13: 100,156,884 (GRCm39) C2436Y probably benign Het
Bod1l T C 5: 41,973,620 (GRCm39) R2565G possibly damaging Het
Brd2 A T 17: 34,334,424 (GRCm39) I245N probably damaging Het
Capn9 G A 8: 125,325,515 (GRCm39) V258M probably damaging Het
Ccar2 C G 14: 70,380,918 (GRCm39) C324S possibly damaging Het
Cd209b A T 8: 3,975,948 (GRCm39) I71N probably benign Het
Cdk12 A T 11: 98,111,928 (GRCm39) I729F unknown Het
Celf1 T G 2: 90,831,423 (GRCm39) V84G probably damaging Het
Cgn G T 3: 94,671,836 (GRCm39) A965E probably benign Het
Cgnl1 T C 9: 71,632,604 (GRCm39) E249G probably benign Het
Cspg4b A G 13: 113,455,841 (GRCm39) H629R Het
Cyp2j8 T C 4: 96,358,776 (GRCm39) N381S possibly damaging Het
Dmtf1 T C 5: 9,179,169 (GRCm39) D343G probably damaging Het
Fhl5 T A 4: 25,214,730 (GRCm39) I16F probably benign Het
Gatd1 A G 7: 140,989,781 (GRCm39) F143S probably damaging Het
Gbp10 C T 5: 105,368,967 (GRCm39) G291R probably benign Het
Gm28168 T C 1: 117,875,820 (GRCm39) Y150H probably benign Het
Gm3543 T C 14: 41,802,122 (GRCm39) M121V probably benign Het
Gramd2b A G 18: 56,618,451 (GRCm39) T220A probably benign Het
Gstcd A G 3: 132,777,863 (GRCm39) L316P probably damaging Het
Hspg2 G A 4: 137,282,532 (GRCm39) G3424D probably benign Het
Ifi209 C T 1: 173,468,722 (GRCm39) S184F probably benign Het
Ino80 A T 2: 119,286,948 (GRCm39) probably null Het
Kcnd3 G A 3: 105,366,310 (GRCm39) R60H probably damaging Het
Kif21b T C 1: 136,098,911 (GRCm39) C1400R probably damaging Het
Lama3 C T 18: 12,670,796 (GRCm39) P794L probably damaging Het
Lgals4 A G 7: 28,540,346 (GRCm39) I214V probably benign Het
Lipo4 A T 19: 33,490,028 (GRCm39) L158Q probably damaging Het
Ltv1 A G 10: 13,066,453 (GRCm39) Y58H probably damaging Het
Mthfr A T 4: 148,127,920 (GRCm39) D132V probably damaging Het
Mtrr T C 13: 68,727,666 (GRCm39) probably null Het
Neb T A 2: 52,050,678 (GRCm39) H6660L probably benign Het
Nhlrc3 A T 3: 53,360,966 (GRCm39) V263E probably damaging Het
Oas1h G A 5: 121,009,890 (GRCm39) V322M probably damaging Het
Or10a3n A T 7: 108,493,019 (GRCm39) Y203* probably null Het
Or2m13 T A 16: 19,226,301 (GRCm39) D155V probably damaging Het
Or4a15 C T 2: 89,193,413 (GRCm39) R120H probably benign Het
Pappa A T 4: 65,212,705 (GRCm39) D1121V probably damaging Het
Pax5 A G 4: 44,537,465 (GRCm39) S352P probably damaging Het
Piezo1 C A 8: 123,222,504 (GRCm39) R915L Het
R3hcc1 T C 14: 69,944,593 (GRCm39) D7G probably damaging Het
Rasgrp2 A G 19: 6,458,589 (GRCm39) K429E probably damaging Het
Scn10a A G 9: 119,501,286 (GRCm39) F166S probably benign Het
Scn9a T G 2: 66,314,597 (GRCm39) N1707T probably damaging Het
Sec23ip T C 7: 128,364,201 (GRCm39) F493S probably damaging Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slfn4 A T 11: 83,077,982 (GRCm39) I257F possibly damaging Het
Smarcal1 T A 1: 72,652,150 (GRCm39) D637E probably benign Het
Smpd3 A C 8: 106,982,254 (GRCm39) C617G probably benign Het
Sos2 A T 12: 69,639,814 (GRCm39) F990L probably benign Het
Spata31h1 C T 10: 82,119,823 (GRCm39) A4396T possibly damaging Het
Syne1 T C 10: 4,981,786 (GRCm39) T844A probably benign Het
Tph1 G A 7: 46,306,678 (GRCm39) R145C probably damaging Het
Ubap2l G A 3: 89,946,076 (GRCm39) probably null Het
Vmn2r50 T C 7: 9,771,272 (GRCm39) I810V probably benign Het
Vmn2r59 T C 7: 41,693,199 (GRCm39) D467G probably damaging Het
Zfp618 T A 4: 63,049,352 (GRCm39) N417K possibly damaging Het
Other mutations in Mitf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Mitf APN 6 97,994,892 (GRCm39) missense possibly damaging 0.69
IGL01516:Mitf APN 6 97,987,351 (GRCm39) splice site probably null
IGL01617:Mitf APN 6 97,973,389 (GRCm39) missense probably benign 0.00
IGL01875:Mitf APN 6 97,994,856 (GRCm39) missense probably benign 0.22
R0010:Mitf UTSW 6 97,784,242 (GRCm39) missense probably benign 0.25
R0010:Mitf UTSW 6 97,784,242 (GRCm39) missense probably benign 0.25
R0079:Mitf UTSW 6 97,973,401 (GRCm39) missense probably benign 0.00
R0381:Mitf UTSW 6 97,970,104 (GRCm39) missense probably damaging 1.00
R0494:Mitf UTSW 6 97,971,390 (GRCm39) missense probably benign 0.00
R0633:Mitf UTSW 6 97,980,865 (GRCm39) missense probably damaging 0.98
R0829:Mitf UTSW 6 97,980,869 (GRCm39) missense possibly damaging 0.46
R1189:Mitf UTSW 6 97,983,086 (GRCm39) missense possibly damaging 0.67
R1459:Mitf UTSW 6 97,987,428 (GRCm39) missense probably damaging 1.00
R1766:Mitf UTSW 6 97,918,060 (GRCm39) missense probably damaging 1.00
R1864:Mitf UTSW 6 97,987,383 (GRCm39) missense probably damaging 1.00
R1891:Mitf UTSW 6 97,918,237 (GRCm39) missense probably benign 0.00
R3934:Mitf UTSW 6 97,970,214 (GRCm39) missense probably damaging 1.00
R3936:Mitf UTSW 6 97,970,214 (GRCm39) missense probably damaging 1.00
R4323:Mitf UTSW 6 97,968,910 (GRCm39) missense probably benign 0.12
R5052:Mitf UTSW 6 97,987,406 (GRCm39) missense possibly damaging 0.91
R5097:Mitf UTSW 6 97,973,423 (GRCm39) missense possibly damaging 0.63
R5297:Mitf UTSW 6 97,971,391 (GRCm39) missense probably benign 0.09
R5646:Mitf UTSW 6 97,990,655 (GRCm39) missense probably damaging 1.00
R6109:Mitf UTSW 6 97,973,429 (GRCm39) missense probably damaging 1.00
R6351:Mitf UTSW 6 97,980,873 (GRCm39) missense possibly damaging 0.85
R6411:Mitf UTSW 6 97,987,433 (GRCm39) critical splice donor site probably null
R7855:Mitf UTSW 6 97,970,157 (GRCm39) missense probably damaging 1.00
R7904:Mitf UTSW 6 97,990,671 (GRCm39) missense probably damaging 0.99
R8061:Mitf UTSW 6 97,970,259 (GRCm39) missense probably damaging 0.98
R9135:Mitf UTSW 6 97,990,680 (GRCm39) missense probably damaging 1.00
R9187:Mitf UTSW 6 97,994,835 (GRCm39) missense probably benign 0.05
R9261:Mitf UTSW 6 97,990,704 (GRCm39) missense possibly damaging 0.86
R9795:Mitf UTSW 6 97,970,143 (GRCm39) missense probably benign
Z1177:Mitf UTSW 6 97,983,082 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GGATCATCAAGCAAGAACCAGTTC -3'
(R):5'- TCCTGGGCTACTGATAAAGCAC -3'

Sequencing Primer
(F):5'- TTCTTGAGAACTGCAGCCAG -3'
(R):5'- GGCTACTGATAAAGCACGAAAATTTC -3'
Posted On 2020-09-15