Mutagenetix > Incidental Mutation

Incidental Mutation 'R1766:Mitf'

194362

Institutional Source

Beutler Lab

Gene Symbol

Mitf

Ensembl Gene

ENSMUSG00000035158

Gene Name

melanogenesis associated transcription factor

Synonyms

Gsfbcc2, mi, BCC2, bHLHe32, wh

MMRRC Submission

039798-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R1766 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97784013-97998310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97918060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 26 (S26P)

Ref Sequence

ENSEMBL: ENSMUSP00000108965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043637] [ENSMUST00000101123] [ENSMUST00000113339] [ENSMUST00000203884]

AlphaFold

Q08874

Predicted Effect

probably benign
Transcript: ENSMUST00000043637
AA Change: S51P

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044938
Gene: ENSMUSG00000035158
AA Change: S51P

Domain	Start	End	E-Value	Type
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: S35P

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000098683
Gene: ENSMUSG00000035158
AA Change: S35P

Domain	Start	End	E-Value	Type
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: S26P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108965
Gene: ENSMUSG00000035158
AA Change: S26P

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000148233

Predicted Effect

probably benign
Transcript: ENSMUST00000203884
AA Change: S51P

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000145132
Gene: ENSMUSG00000035158
AA Change: S51P

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	T	C	10: 42,330,491 (GRCm39)	T59A	probably benign	Het
Ankrd17	T	A	5: 90,412,656 (GRCm39)	M1223L	possibly damaging	Het
Ankrd24	G	A	10: 81,474,472 (GRCm39)	S68N	probably benign	Het
Arhgap31	A	G	16: 38,445,952 (GRCm39)	I131T	probably damaging	Het
Arhgef10	A	T	8: 15,029,836 (GRCm39)	I874F	probably damaging	Het
Arl5b	T	C	2: 15,074,648 (GRCm39)	V43A	probably benign	Het
BC051665	G	A	13: 60,932,854 (GRCm39)	H36Y	probably benign	Het
Cdh9	A	G	15: 16,778,392 (GRCm39)	D69G	probably damaging	Het
Chd6	G	A	2: 160,808,559 (GRCm39)	L1552F	probably damaging	Het
Chrd	A	G	16: 20,556,191 (GRCm39)	H584R	probably damaging	Het
Dnhd1	G	A	7: 105,343,179 (GRCm39)	V1508I	possibly damaging	Het
Dpy19l4	C	T	4: 11,303,360 (GRCm39)	G187D	probably damaging	Het
Dync2h1	T	C	9: 7,015,526 (GRCm39)		probably null	Het
Ehbp1l1	A	G	19: 5,766,434 (GRCm39)	V1303A	probably damaging	Het
Eif4e1b	G	A	13: 54,934,704 (GRCm39)	E182K	probably damaging	Het
Fam170b	A	T	14: 32,557,843 (GRCm39)	Q226L	possibly damaging	Het
Fam193a	C	T	5: 34,619,475 (GRCm39)	P760L	probably damaging	Het
Gabra5	A	T	7: 57,157,796 (GRCm39)	L6H	probably benign	Het
Gabrq	G	A	X: 71,876,989 (GRCm39)	R161H	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm7334	T	A	17: 51,006,006 (GRCm39)	D97E	probably damaging	Het
Gpsm1	G	A	2: 26,215,395 (GRCm39)	A286T	probably damaging	Het
Gsta4	C	A	9: 78,111,611 (GRCm39)	Y79*	probably null	Het
Hcn1	T	A	13: 117,793,270 (GRCm39)	V174D	probably benign	Het
Hic1	G	T	11: 75,056,620 (GRCm39)	C756*	probably null	Het
Hivep3	C	T	4: 119,953,868 (GRCm39)	T728I	probably benign	Het
Ice1	T	C	13: 70,752,561 (GRCm39)	E1175G	possibly damaging	Het
Igsf3	T	A	3: 101,338,598 (GRCm39)	L304Q	probably damaging	Het
Kpna6	T	C	4: 129,551,235 (GRCm39)	D90G	probably benign	Het
Krt73	C	T	15: 101,702,363 (GRCm39)	G500D	probably damaging	Het
Lama3	A	G	18: 12,535,119 (GRCm39)	K156E	probably damaging	Het
Mdm2	T	C	10: 117,531,927 (GRCm39)	K94E	probably damaging	Het
Myh4	C	A	11: 67,147,121 (GRCm39)	Q1589K	possibly damaging	Het
Nlrp4c	T	A	7: 6,076,113 (GRCm39)	V671E	probably benign	Het
Nop9	C	T	14: 55,989,591 (GRCm39)	A407V	possibly damaging	Het
Nrap	T	A	19: 56,323,474 (GRCm39)	H1366L	probably damaging	Het
Ntrk1	A	T	3: 87,685,825 (GRCm39)	C766S	probably damaging	Het
Oog3	C	T	4: 143,885,692 (GRCm39)	G302D	possibly damaging	Het
Or4q3	T	C	14: 50,583,677 (GRCm39)	Y43C	probably damaging	Het
Or52z15	A	G	7: 103,332,068 (GRCm39)	N38D	possibly damaging	Het
Or6c38	T	C	10: 128,929,616 (GRCm39)	I76V	probably benign	Het
Or7g27	A	G	9: 19,250,154 (GRCm39)	T133A	probably benign	Het
Pdzph1	C	T	17: 59,280,747 (GRCm39)	V512I	probably benign	Het
Phf2	A	C	13: 48,973,033 (GRCm39)	S408A	unknown	Het
Pigk	T	G	3: 152,445,793 (GRCm39)	L135V	probably damaging	Het
Ppp2ca	C	A	11: 52,012,773 (GRCm39)	T301N	probably benign	Het
Ppp4r3a	A	G	12: 101,024,741 (GRCm39)	S253P	probably damaging	Het
Ptgfrn	A	T	3: 100,957,438 (GRCm39)	I712N	probably benign	Het
Rapgef2	A	T	3: 79,000,010 (GRCm39)	D579E	probably damaging	Het
Rims2	T	A	15: 39,325,976 (GRCm39)	D769E	probably damaging	Het
Rptor	T	A	11: 119,615,887 (GRCm39)	C134S	probably damaging	Het
S100a1	A	G	3: 90,418,599 (GRCm39)	F72L	probably damaging	Het
Scube1	T	A	15: 83,606,146 (GRCm39)	D42V	probably damaging	Het
Sh3glb1	T	C	3: 144,418,446 (GRCm39)	D39G	probably damaging	Het
Sh3pxd2a	T	C	19: 47,261,689 (GRCm39)	T397A	probably benign	Het
Siglece	G	A	7: 43,300,956 (GRCm39)	T453M	probably damaging	Het
Slc26a1	G	A	5: 108,819,658 (GRCm39)	R514W	probably damaging	Het
Slc4a8	T	C	15: 100,685,093 (GRCm39)	V156A	probably benign	Het
Smchd1	A	T	17: 71,698,374 (GRCm39)	V1134E	probably damaging	Het
Sorbs2	A	G	8: 46,223,613 (GRCm39)	Y222C	probably damaging	Het
Sorcs3	G	T	19: 48,592,314 (GRCm39)	W326C	possibly damaging	Het
Taf2	A	G	15: 54,934,793 (GRCm39)	V45A	probably benign	Het
Tex16	T	C	X: 111,150,782 (GRCm39)	Y22H	probably benign	Het
Tiparp	A	T	3: 65,439,470 (GRCm39)	H80L	probably damaging	Het
Tmem71	T	A	15: 66,413,548 (GRCm39)	T175S	probably benign	Het
Tmem87b	T	A	2: 128,681,090 (GRCm39)	V338D	probably damaging	Het
Trdn	A	G	10: 33,240,004 (GRCm39)	K445R	probably damaging	Het
Trim14	A	G	4: 46,522,039 (GRCm39)	F213L	probably benign	Het
Tubgcp5	T	A	7: 55,464,768 (GRCm39)	S550T	probably benign	Het
Tufm	A	G	7: 126,089,644 (GRCm39)	D446G	probably benign	Het
Vipr1	A	T	9: 121,490,485 (GRCm39)	Y177F	possibly damaging	Het
Vmn2r116	A	C	17: 23,620,740 (GRCm39)	I825L	probably damaging	Het
Vmn2r12	G	T	5: 109,239,910 (GRCm39)	Q218K	probably damaging	Het
Vwa7	G	T	17: 35,242,919 (GRCm39)		probably null	Het
Ywhae	T	C	11: 75,646,491 (GRCm39)	V119A	probably damaging	Het
Zfand5	A	G	19: 21,257,888 (GRCm39)	R199G	probably damaging	Het
Zfp810	T	C	9: 22,189,828 (GRCm39)	Y360C	possibly damaging	Het
Zrsr2-ps1	A	G	11: 22,923,637 (GRCm39)	D137G	probably benign	Het

Other mutations in Mitf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GGAGAGTTGCTTGCCATTGAGACC -3'
(R):5'- TTAAGGACTTCCATCGGCACCTGG -3'

Sequencing Primer
(F):5'- ATTACATGGAGTGCCATGCC -3'
(R):5'- CTGGGTGGCAGAGGGAAG -3'

Posted On

2014-05-23