Incidental Mutation 'R1189:Mitf'
ID 102415
Institutional Source Beutler Lab
Gene Symbol Mitf
Ensembl Gene ENSMUSG00000035158
Gene Name melanogenesis associated transcription factor
Synonyms Gsfbcc2, mi, BCC2, bHLHe32, wh
MMRRC Submission 039261-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.929) question?
Stock # R1189 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 97784013-97998310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97983086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 270 (C270R)
Ref Sequence ENSEMBL: ENSMUSP00000108965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043628] [ENSMUST00000043637] [ENSMUST00000101123] [ENSMUST00000113339] [ENSMUST00000139462] [ENSMUST00000203884] [ENSMUST00000203938]
AlphaFold Q08874
Predicted Effect probably benign
Transcript: ENSMUST00000043628
AA Change: C188R

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000044459
Gene: ENSMUSG00000035158
AA Change: C188R

DomainStartEndE-ValueType
HLH 210 263 5.53e-17 SMART
Pfam:DUF3371 290 416 9.5e-47 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000043637
AA Change: C295R

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044938
Gene: ENSMUSG00000035158
AA Change: C295R

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: C279R

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000098683
Gene: ENSMUSG00000035158
AA Change: C279R

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 possibly damaging
Transcript: ENSMUST00000113339
AA Change: C270R

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108965
Gene: ENSMUSG00000035158
AA Change: C270R

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
SMART Domains Protein: ENSMUSP00000145132
Gene: ENSMUSG00000035158

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
SMART Domains Protein: ENSMUSP00000144988
Gene: ENSMUSG00000035158

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: 98.6%
  • 3x: 97.2%
  • 10x: 92.5%
  • 20x: 81.0%
Validation Efficiency
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930022D16Rik A G 11: 109,308,934 (GRCm39) H100R unknown Het
Abcc2 T A 19: 43,807,852 (GRCm39) V831D probably damaging Het
Akap11 A T 14: 78,750,787 (GRCm39) S533R probably benign Het
Aldh1a2 G T 9: 71,171,105 (GRCm39) A198S possibly damaging Het
Cbarp C A 10: 79,967,630 (GRCm39) R537L possibly damaging Het
Crybg1 T A 10: 43,874,790 (GRCm39) S773C probably damaging Het
Cyp3a13 G T 5: 137,909,892 (GRCm39) probably null Het
Gatad1 T A 5: 3,693,701 (GRCm39) D156V probably damaging Het
Ift172 T A 5: 31,443,174 (GRCm39) probably null Het
Lrrtm2 C T 18: 35,346,545 (GRCm39) W252* probably null Het
Muc6 T A 7: 141,232,122 (GRCm39) S1002C probably damaging Het
Or4k2 A G 14: 50,424,539 (GRCm39) I45T probably damaging Het
Or5b113 A T 19: 13,342,543 (GRCm39) M184L probably benign Het
Pcdhb8 C T 18: 37,489,620 (GRCm39) Q92* probably null Het
Plekhm1 A G 11: 103,277,888 (GRCm39) S403P probably benign Het
Ppara A G 15: 85,682,365 (GRCm39) I354V probably benign Het
Psmd2 T C 16: 20,480,644 (GRCm39) M761T probably benign Het
Xirp2 T A 2: 67,343,805 (GRCm39) N2015K probably damaging Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E probably benign 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
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
R7975:Mitf UTSW 6 97,994,990 (GRCm39) missense probably benign 0.17
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'- AGACTTGCTGTACTGTGGCTTGTCATC -3'
(R):5'- CTTTCCTGTGAAATTGCTGGAATCACC -3'

Sequencing Primer
(F):5'- CATCTGGTTTGTAGAAACTGAGC -3'
(R):5'- TGCTGGAATCACCTTTTTGATAC -3'
Posted On 2014-01-15