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

wh, mi, Gsfbcc2, bHLHe32, BCC2

MMRRC Submission

039798-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.894) question?

Stock #

R1766 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97807052-98021349 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97941099 bp (GRCm38)

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
4933403O08Rik	T	C	X: 112,241,085	Y22H	probably benign	Het
Afg1l	T	C	10: 42,454,495	T59A	probably benign	Het
Ankrd17	T	A	5: 90,264,797	M1223L	possibly damaging	Het
Ankrd24	G	A	10: 81,638,638	S68N	probably benign	Het
Arhgap31	A	G	16: 38,625,590	I131T	probably damaging	Het
Arhgef10	A	T	8: 14,979,836	I874F	probably damaging	Het
Arl5b	T	C	2: 15,069,837	V43A	probably benign	Het
BC051665	G	A	13: 60,785,040	H36Y	probably benign	Het
Cdh9	A	G	15: 16,778,306	D69G	probably damaging	Het
Chd6	G	A	2: 160,966,639	L1552F	probably damaging	Het
Chrd	A	G	16: 20,737,441	H584R	probably damaging	Het
Dnhd1	G	A	7: 105,693,972	V1508I	possibly damaging	Het
Dpy19l4	C	T	4: 11,303,360	G187D	probably damaging	Het
Dync2h1	T	C	9: 7,015,526		probably null	Het
Ehbp1l1	A	G	19: 5,716,406	V1303A	probably damaging	Het
Eif4e1b	G	A	13: 54,786,891	E182K	probably damaging	Het
Fam170b	A	T	14: 32,835,886	Q226L	possibly damaging	Het
Fam193a	C	T	5: 34,462,131	P760L	probably damaging	Het
Gabra5	A	T	7: 57,508,048	L6H	probably benign	Het
Gabrq	G	A	X: 72,833,383	R161H	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Gm7334	T	A	17: 50,698,978	D97E	probably damaging	Het
Gpsm1	G	A	2: 26,325,383	A286T	probably damaging	Het
Gsta4	C	A	9: 78,204,329	Y79*	probably null	Het
Hcn1	T	A	13: 117,656,734	V174D	probably benign	Het
Hic1	G	T	11: 75,165,794	C756*	probably null	Het
Hivep3	C	T	4: 120,096,671	T728I	probably benign	Het
Ice1	T	C	13: 70,604,442	E1175G	possibly damaging	Het
Igsf3	T	A	3: 101,431,282	L304Q	probably damaging	Het
Kpna6	T	C	4: 129,657,442	D90G	probably benign	Het
Krt73	C	T	15: 101,793,928	G500D	probably damaging	Het
Lama3	A	G	18: 12,402,062	K156E	probably damaging	Het
Mdm2	T	C	10: 117,696,022	K94E	probably damaging	Het
Myh4	C	A	11: 67,256,295	Q1589K	possibly damaging	Het
Nlrp4c	T	A	7: 6,073,114	V671E	probably benign	Het
Nop9	C	T	14: 55,752,134	A407V	possibly damaging	Het
Nrap	T	A	19: 56,335,042	H1366L	probably damaging	Het
Ntrk1	A	T	3: 87,778,518	C766S	probably damaging	Het
Olfr625-ps1	A	G	7: 103,682,861	N38D	possibly damaging	Het
Olfr735	T	C	14: 50,346,220	Y43C	probably damaging	Het
Olfr768	T	C	10: 129,093,747	I76V	probably benign	Het
Olfr845	A	G	9: 19,338,858	T133A	probably benign	Het
Oog3	C	T	4: 144,159,122	G302D	possibly damaging	Het
Pdzph1	C	T	17: 58,973,752	V512I	probably benign	Het
Phf2	A	C	13: 48,819,557	S408A	unknown	Het
Pigk	T	G	3: 152,740,156	L135V	probably damaging	Het
Ppp2ca	C	A	11: 52,121,946	T301N	probably benign	Het
Ppp4r3a	A	G	12: 101,058,482	S253P	probably damaging	Het
Ptgfrn	A	T	3: 101,050,122	I712N	probably benign	Het
Rapgef2	A	T	3: 79,092,703	D579E	probably damaging	Het
Rims2	T	A	15: 39,462,580	D769E	probably damaging	Het
Rptor	T	A	11: 119,725,061	C134S	probably damaging	Het
S100a1	A	G	3: 90,511,292	F72L	probably damaging	Het
Scube1	T	A	15: 83,721,945	D42V	probably damaging	Het
Sh3glb1	T	C	3: 144,712,685	D39G	probably damaging	Het
Sh3pxd2a	T	C	19: 47,273,250	T397A	probably benign	Het
Siglece	G	A	7: 43,651,532	T453M	probably damaging	Het
Slc26a1	G	A	5: 108,671,792	R514W	probably damaging	Het
Slc4a8	T	C	15: 100,787,212	V156A	probably benign	Het
Smchd1	A	T	17: 71,391,379	V1134E	probably damaging	Het
Sorbs2	A	G	8: 45,770,576	Y222C	probably damaging	Het
Sorcs3	G	T	19: 48,603,875	W326C	possibly damaging	Het
Taf2	A	G	15: 55,071,397	V45A	probably benign	Het
Tiparp	A	T	3: 65,532,049	H80L	probably damaging	Het
Tmem71	T	A	15: 66,541,699	T175S	probably benign	Het
Tmem87b	T	A	2: 128,839,170	V338D	probably damaging	Het
Trdn	A	G	10: 33,364,008	K445R	probably damaging	Het
Trim14	A	G	4: 46,522,039	F213L	probably benign	Het
Tubgcp5	T	A	7: 55,815,020	S550T	probably benign	Het
Tufm	A	G	7: 126,490,472	D446G	probably benign	Het
Vipr1	A	T	9: 121,661,419	Y177F	possibly damaging	Het
Vmn2r116	A	C	17: 23,401,766	I825L	probably damaging	Het
Vmn2r12	G	T	5: 109,092,044	Q218K	probably damaging	Het
Vwa7	G	T	17: 35,023,943		probably null	Het
Ywhae	T	C	11: 75,755,665	V119A	probably damaging	Het
Zfand5	A	G	19: 21,280,524	R199G	probably damaging	Het
Zfp810	T	C	9: 22,278,532	Y360C	possibly damaging	Het
Zrsr1	A	G	11: 22,973,637	D137G	probably benign	Het

Other mutations in Mitf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Mitf	APN	6	98017931	missense	possibly damaging	0.69
IGL01516:Mitf	APN	6	98010390	splice site	probably null
IGL01617:Mitf	APN	6	97996428	missense	probably benign	0.00
IGL01875:Mitf	APN	6	98017895	missense	probably benign	0.22
R0010:Mitf	UTSW	6	97807281	missense	probably benign	0.25
R0010:Mitf	UTSW	6	97807281	missense	probably benign	0.25
R0079:Mitf	UTSW	6	97996440	missense	probably benign	0.00
R0381:Mitf	UTSW	6	97993143	missense	probably damaging	1.00
R0494:Mitf	UTSW	6	97994429	missense	probably benign	0.00
R0633:Mitf	UTSW	6	98003904	missense	probably damaging	0.98
R0829:Mitf	UTSW	6	98003908	missense	possibly damaging	0.46
R1189:Mitf	UTSW	6	98006125	missense	possibly damaging	0.67
R1459:Mitf	UTSW	6	98010467	missense	probably damaging	1.00
R1864:Mitf	UTSW	6	98010422	missense	probably damaging	1.00
R1891:Mitf	UTSW	6	97941276	missense	probably benign	0.00
R3934:Mitf	UTSW	6	97993253	missense	probably damaging	1.00
R3936:Mitf	UTSW	6	97993253	missense	probably damaging	1.00
R4323:Mitf	UTSW	6	97991949	missense	probably benign	0.12
R5052:Mitf	UTSW	6	98010445	missense	possibly damaging	0.91
R5097:Mitf	UTSW	6	97996462	missense	possibly damaging	0.63
R5297:Mitf	UTSW	6	97994430	missense	probably benign	0.09
R5646:Mitf	UTSW	6	98013694	missense	probably damaging	1.00
R6109:Mitf	UTSW	6	97996468	missense	probably damaging	1.00
R6351:Mitf	UTSW	6	98003912	missense	possibly damaging	0.85
R6411:Mitf	UTSW	6	98010472	critical splice donor site	probably null
R7855:Mitf	UTSW	6	97993196	missense	probably damaging	1.00
R7904:Mitf	UTSW	6	98013710	missense	probably damaging	0.99
R7975:Mitf	UTSW	6	98018029	missense	probably benign	0.17
R8061:Mitf	UTSW	6	97993298	missense	probably damaging	0.98
R9135:Mitf	UTSW	6	98013719	missense	probably damaging	1.00
R9187:Mitf	UTSW	6	98017874	missense	probably benign	0.05
R9261:Mitf	UTSW	6	98013743	missense	possibly damaging	0.86
R9795:Mitf	UTSW	6	97993182	missense	probably benign
Z1177:Mitf	UTSW	6	98006121	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