Incidental Mutation 'R1459:Mitf'
ID 161961
Institutional Source Beutler Lab
Gene Symbol Mitf
Ensembl Gene ENSMUSG00000035158
Gene Name melanogenesis associated transcription factor
Synonyms Gsfbcc2, mi, BCC2, bHLHe32, wh
MMRRC Submission 039514-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.929) question?
Stock # R1459 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 97784013-97998310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97987428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 337 (D337G)
Ref Sequence ENSEMBL: ENSMUSP00000145132 (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: D236G

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044459
Gene: ENSMUSG00000035158
AA Change: D236G

DomainStartEndE-ValueType
HLH 210 263 5.53e-17 SMART
Pfam:DUF3371 290 416 9.5e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000043637
AA Change: D343G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044938
Gene: ENSMUSG00000035158
AA Change: D343G

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: D327G

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098683
Gene: ENSMUSG00000035158
AA Change: D327G

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: D318G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108965
Gene: ENSMUSG00000035158
AA Change: D318G

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 damaging
Transcript: ENSMUST00000203884
AA Change: D337G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145132
Gene: ENSMUSG00000035158
AA Change: D337G

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 damaging
Transcript: ENSMUST00000203938
AA Change: D174G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144988
Gene: ENSMUSG00000035158
AA Change: D174G

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
Meta Mutation Damage Score 0.3651 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 96% (87/91)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik C T 4: 62,450,578 (GRCm39) R51W probably damaging Het
Abcb1a T A 5: 8,752,920 (GRCm39) L557Q probably damaging Het
Abcb4 T C 5: 8,968,662 (GRCm39) F334L possibly damaging Het
Adamts14 T A 10: 61,034,583 (GRCm39) T1102S probably benign Het
Adamtsl1 T C 4: 86,344,102 (GRCm39) Y1719H probably damaging Het
Adcyap1 T C 17: 93,507,550 (GRCm39) probably null Het
Ankrd13c T A 3: 157,677,947 (GRCm39) L219Q probably damaging Het
Ano3 C A 2: 110,711,174 (GRCm39) A97S probably benign Het
Apaf1 T C 10: 90,898,022 (GRCm39) N245S probably benign Het
Apob A G 12: 8,056,047 (GRCm39) T1510A probably benign Het
Apob A G 12: 8,061,937 (GRCm39) D3473G possibly damaging Het
Arfgap3 G A 15: 83,191,138 (GRCm39) T12I probably benign Het
Bend4 A G 5: 67,557,418 (GRCm39) V466A probably damaging Het
Bend7 G A 2: 4,749,239 (GRCm39) E119K probably damaging Het
Capn5 G T 7: 97,781,049 (GRCm39) R243S possibly damaging Het
Cd84 A G 1: 171,679,510 (GRCm39) I63V probably benign Het
Cd86 T A 16: 36,449,350 (GRCm39) T16S probably benign Het
Cdc42bpb A G 12: 111,262,734 (GRCm39) probably benign Het
Cep20 G A 16: 14,122,380 (GRCm39) T128I possibly damaging Het
Cep95 C T 11: 106,708,781 (GRCm39) S26L probably damaging Het
Cldn19 C T 4: 119,112,810 (GRCm39) A14V probably damaging Het
Cluap1 T A 16: 3,755,453 (GRCm39) M356K probably damaging Het
Coq7 C T 7: 118,109,260 (GRCm39) G263S unknown Het
Ctnnd2 A C 15: 30,847,445 (GRCm39) T679P probably damaging Het
Dnah10 A G 5: 124,820,750 (GRCm39) D528G possibly damaging Het
Dvl1 T A 4: 155,938,476 (GRCm39) N133K probably damaging Het
Efcab7 T G 4: 99,769,744 (GRCm39) H550Q probably null Het
Fastkd5 C T 2: 130,456,717 (GRCm39) M624I probably damaging Het
Fbxo42 T C 4: 140,895,073 (GRCm39) V12A probably benign Het
Gabarapl1 T A 6: 129,515,635 (GRCm39) M91K possibly damaging Het
Gas7 A G 11: 67,552,902 (GRCm39) N154S probably damaging Het
Gm21814 T A 6: 149,483,650 (GRCm39) noncoding transcript Het
Gnl3 G A 14: 30,739,803 (GRCm39) R12C probably damaging Het
Golga2 T G 2: 32,187,807 (GRCm39) probably null Het
Grk3 T A 5: 113,062,878 (GRCm39) R656S probably benign Het
Gsap T A 5: 21,412,236 (GRCm39) probably benign Het
H60c T C 10: 3,210,240 (GRCm39) Q103R probably benign Het
Hnrnpr T A 4: 136,056,755 (GRCm39) S252T probably damaging Het
Itgb4 A T 11: 115,869,937 (GRCm39) T40S probably benign Het
Krtap27-1 T C 16: 88,468,302 (GRCm39) N81D probably benign Het
Lilrb4a T A 10: 51,367,683 (GRCm39) L75Q probably benign Het
Lrp2 T A 2: 69,290,821 (GRCm39) E3546D probably damaging Het
Lrp2 T A 2: 69,313,738 (GRCm39) D2331V probably damaging Het
Lzts2 T A 19: 45,009,893 (GRCm39) V9E probably damaging Het
Matr3 T A 18: 35,717,709 (GRCm39) D302E probably benign Het
Mcoln2 A G 3: 145,897,979 (GRCm39) probably null Het
Metap2 T C 10: 93,704,811 (GRCm39) D272G probably damaging Het
Mrtfb T C 16: 13,219,433 (GRCm39) V693A possibly damaging Het
Msh2 A G 17: 87,985,771 (GRCm39) E116G probably benign Het
Nlrp10 T A 7: 108,523,555 (GRCm39) M642L probably benign Het
Noxa1 G T 2: 24,982,558 (GRCm39) Q86K probably benign Het
Nrap T C 19: 56,372,562 (GRCm39) T48A probably benign Het
Nup160 T A 2: 90,520,494 (GRCm39) H308Q probably damaging Het
Osbpl11 T C 16: 33,056,699 (GRCm39) L711P probably damaging Het
Osbpl6 A G 2: 76,385,409 (GRCm39) N281S probably benign Het
Pcnp C T 16: 55,844,703 (GRCm39) E66K possibly damaging Het
Phf11 T A 14: 59,482,227 (GRCm39) E175D probably damaging Het
Pik3cg A G 12: 32,254,983 (GRCm39) Y335H probably damaging Het
Plekhg4 T C 8: 106,108,431 (GRCm39) L1053S probably damaging Het
Plekhh2 G T 17: 84,918,203 (GRCm39) E1271* probably null Het
Ppp2r2b T A 18: 42,871,055 (GRCm39) Y82F probably damaging Het
Prkd3 T C 17: 79,278,796 (GRCm39) D430G probably damaging Het
Prl7d1 C T 13: 27,893,240 (GRCm39) D224N possibly damaging Het
Ptpdc1 A T 13: 48,740,173 (GRCm39) N419K possibly damaging Het
Serinc5 T A 13: 92,797,695 (GRCm39) probably null Het
Sipa1 A G 19: 5,701,692 (GRCm39) L981P probably damaging Het
Slc16a7 A T 10: 125,066,489 (GRCm39) C383* probably null Het
Slc19a1 C G 10: 76,878,369 (GRCm39) Y301* probably null Het
Slc22a14 A T 9: 119,052,827 (GRCm39) V14E possibly damaging Het
Slpi C A 2: 164,196,837 (GRCm39) C95F probably damaging Het
Smurf2 G A 11: 106,743,333 (GRCm39) H225Y possibly damaging Het
Son T C 16: 91,452,230 (GRCm39) S326P possibly damaging Het
Sptb T A 12: 76,658,657 (GRCm39) K1262M probably benign Het
Sugp2 T A 8: 70,696,714 (GRCm39) probably benign Het
Tatdn2 T A 6: 113,687,031 (GRCm39) H747Q probably damaging Het
Tcn2 C A 11: 3,877,516 (GRCm39) R44L probably benign Het
Tenm3 G A 8: 48,689,006 (GRCm39) R2194C probably damaging Het
Tnks2 T A 19: 36,822,931 (GRCm39) probably benign Het
Top3a A T 11: 60,650,188 (GRCm39) I120N probably damaging Het
Umodl1 T A 17: 31,201,232 (GRCm39) probably benign Het
Umodl1 T C 17: 31,205,478 (GRCm39) V662A probably benign Het
Ush2a T C 1: 188,595,048 (GRCm39) S3827P probably benign Het
Vasn T A 16: 4,466,473 (GRCm39) probably null Het
Vmn2r69 A T 7: 85,055,908 (GRCm39) C743* probably null Het
Vmn2r79 C A 7: 86,687,002 (GRCm39) H794Q 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
R1189:Mitf UTSW 6 97,983,086 (GRCm39) missense possibly damaging 0.67
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'- CCCCTCCAGTAGCAAAAGGAAGATG -3'
(R):5'- TGTATGTGTGACCGTGAAAGCCTG -3'

Sequencing Primer
(F):5'- GGGCTCAAGTTTCCATTGTC -3'
(R):5'- TGAGTTCTCAGATGCCCATAAAC -3'
Posted On 2014-03-14