Incidental Mutation 'R6109:Mitf'
ID 484714
Institutional Source Beutler Lab
Gene Symbol Mitf
Ensembl Gene ENSMUSG00000035158
Gene Name melanogenesis associated transcription factor
Synonyms Gsfbcc2, mi, BCC2, bHLHe32, wh
MMRRC Submission 044259-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.929) question?
Stock # R6109 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 97784013-97998310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 97973429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 229 (T229M)
Ref Sequence ENSEMBL: ENSMUSP00000108965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043628] [ENSMUST00000043637] [ENSMUST00000101123] [ENSMUST00000113339] [ENSMUST00000139462] [ENSMUST00000203884] [ENSMUST00000203938]
AlphaFold Q08874
Predicted Effect possibly damaging
Transcript: ENSMUST00000043628
AA Change: T147M

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000044459
Gene: ENSMUSG00000035158
AA Change: T147M

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: T254M

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044938
Gene: ENSMUSG00000035158
AA Change: T254M

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 possibly damaging
Transcript: ENSMUST00000101123
AA Change: T238M

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098683
Gene: ENSMUSG00000035158
AA Change: T238M

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: T229M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108965
Gene: ENSMUSG00000035158
AA Change: T229M

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 possibly damaging
Transcript: ENSMUST00000203884
AA Change: T254M

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145132
Gene: ENSMUSG00000035158
AA Change: T254M

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 possibly damaging
Transcript: ENSMUST00000203938
AA Change: T91M

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144988
Gene: ENSMUSG00000035158
AA Change: T91M

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 100% (64/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,621,303 (GRCm39) Y950C probably benign Het
Acadm A G 3: 153,647,580 (GRCm39) C20R probably damaging Het
Agtpbp1 G T 13: 59,621,560 (GRCm39) T984K probably damaging Het
Agxt2 C T 15: 10,377,508 (GRCm39) T136I probably damaging Het
Ankrd36 C A 11: 5,578,941 (GRCm39) N68K probably damaging Het
Ap3b2 T A 7: 81,143,340 (GRCm39) D10V possibly damaging Het
Apcdd1 A T 18: 63,070,437 (GRCm39) I235F probably damaging Het
Arhgap32 T A 9: 32,171,407 (GRCm39) W1396R probably damaging Het
Ascc3 A G 10: 50,525,343 (GRCm39) T513A probably benign Het
Aym1 C T 5: 113,505,407 (GRCm39) L9F unknown Het
Btnl10 C A 11: 58,811,130 (GRCm39) S151Y probably damaging Het
Camk2a A T 18: 61,076,306 (GRCm39) K95* probably null Het
Ccdc40 T C 11: 119,122,804 (GRCm39) V202A probably benign Het
Cd200r3 T A 16: 44,774,045 (GRCm39) D152E probably benign Het
Cd2bp2 C T 7: 126,793,987 (GRCm39) D101N probably damaging Het
Cdh20 G A 1: 104,921,739 (GRCm39) D679N probably damaging Het
Clpx C T 9: 65,207,234 (GRCm39) T44I probably benign Het
Cnnm4 T G 1: 36,537,560 (GRCm39) V541G probably damaging Het
Csmd1 T C 8: 16,249,874 (GRCm39) I1035V possibly damaging Het
Ctsw T C 19: 5,517,147 (GRCm39) S62G probably benign Het
Dlk2 T A 17: 46,612,623 (GRCm39) Y109N probably damaging Het
Ebf3 C T 7: 136,807,955 (GRCm39) V363M probably damaging Het
Farsb A G 1: 78,439,907 (GRCm39) probably null Het
Fastkd3 C T 13: 68,738,337 (GRCm39) Q32* probably null Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Foxl3 C A 5: 138,805,850 (GRCm39) Q6K probably damaging Het
Gk5 C A 9: 96,022,663 (GRCm39) F166L probably benign Het
Gm11271 G T 13: 21,565,309 (GRCm39) noncoding transcript Het
Gnat2 T A 3: 108,007,451 (GRCm39) Y290N probably damaging Het
H2-D1 A T 17: 35,482,913 (GRCm39) I148F probably damaging Het
Hdac2 A G 10: 36,862,385 (GRCm39) D83G probably null Het
Kdm5d T C Y: 921,501 (GRCm39) W500R probably damaging Het
Kel A T 6: 41,665,796 (GRCm39) F489I probably benign Het
Kmo C A 1: 175,465,474 (GRCm39) A76E possibly damaging Het
Krt32 T C 11: 99,978,791 (GRCm39) T88A probably benign Het
Lce3b A G 3: 92,840,994 (GRCm39) T30A unknown Het
Lcn11 A G 2: 25,669,308 (GRCm39) H155R possibly damaging Het
Lmln T A 16: 32,889,481 (GRCm39) I129N possibly damaging Het
Meiob A G 17: 25,031,993 (GRCm39) K3E probably benign Het
Ms4a20 T C 19: 11,079,276 (GRCm39) M131V possibly damaging Het
Muc16 T C 9: 18,566,655 (GRCm39) I1955V unknown Het
Naip1 A G 13: 100,563,690 (GRCm39) C492R probably damaging Het
Ncor2 C T 5: 125,132,910 (GRCm39) A26T probably damaging Het
Ngfr T G 11: 95,468,883 (GRCm39) D165A probably damaging Het
Nobox A T 6: 43,282,103 (GRCm39) S323R probably damaging Het
Or51ac3 T C 7: 103,214,346 (GRCm39) I47V probably benign Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Or8g23 A G 9: 38,971,492 (GRCm39) S157P probably benign Het
Pcdhb1 G T 18: 37,398,306 (GRCm39) V86F possibly damaging Het
Pdk1 A G 2: 71,713,850 (GRCm39) E165G probably benign Het
Peak1 C T 9: 56,166,567 (GRCm39) V454I probably benign Het
Rad9b C T 5: 122,482,360 (GRCm39) G125D probably damaging Het
S100a16 T C 3: 90,449,381 (GRCm39) F19L probably damaging Het
Serpine2 T C 1: 79,788,388 (GRCm39) K190E probably damaging Het
Slf1 A T 13: 77,274,799 (GRCm39) M12K probably damaging Het
Tex101 T C 7: 24,367,738 (GRCm39) T205A possibly damaging Het
Tssk5 T C 15: 76,257,916 (GRCm39) E147G probably damaging Het
Ubr4 A G 4: 139,144,675 (GRCm39) T1495A probably damaging Het
Vav3 C T 3: 109,571,681 (GRCm39) T201M probably damaging Het
Wdr70 A T 15: 8,108,638 (GRCm39) probably null Het
Zfp811 T A 17: 33,016,348 (GRCm39) probably null Het
Zscan10 T A 17: 23,826,103 (GRCm39) F88L probably 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
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'- ACTTGGGGAGAGAATACTTTCAC -3'
(R):5'- ACTCGAGCAAGCTTCTTAATTTCTG -3'

Sequencing Primer
(F):5'- CTGTTGCTTTAGGTAAGAAAGGACC -3'
(R):5'- GAGCAAGCTTCTTAATTTCTGATGTC -3'
Posted On 2017-08-16