Mutagenetix > Incidental Mutation

Incidental Mutation 'R7855:Mitf'

607181

Institutional Source

Beutler Lab

Gene Symbol

Mitf

Ensembl Gene

ENSMUSG00000035158

Gene Name

melanogenesis associated transcription factor

Synonyms

wh, mi, Gsfbcc2, bHLHe32, BCC2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R7855 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97807052-98021349 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97993196 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 142 (Y142N)

Ref Sequence

ENSEMBL: ENSMUSP00000044938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043628] [ENSMUST00000043637] [ENSMUST00000101123] [ENSMUST00000113339] [ENSMUST00000139462] [ENSMUST00000203884] [ENSMUST00000203938]

AlphaFold

Q08874

Predicted Effect

probably damaging
Transcript: ENSMUST00000043628
AA Change: Y35N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044459
Gene: ENSMUSG00000035158
AA Change: Y35N

Domain	Start	End	E-Value	Type
HLH	210	263	5.53e-17	SMART
Pfam:DUF3371	290	416	9.5e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000043637
AA Change: Y142N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044938
Gene: ENSMUSG00000035158
AA Change: Y142N

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

probably damaging
Transcript: ENSMUST00000101123
AA Change: Y126N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098683
Gene: ENSMUSG00000035158
AA Change: Y126N

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: Y117N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108965
Gene: ENSMUSG00000035158
AA Change: Y117N

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

probably damaging
Transcript: ENSMUST00000139462
AA Change: Y35N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000203884
AA Change: Y142N

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

SMART Domains

Protein: ENSMUSP00000145132
Gene: ENSMUSG00000035158
AA Change: Y142N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203938

SMART Domains

Protein: ENSMUSP00000144988
Gene: ENSMUSG00000035158

Domain	Start	End	E-Value	Type
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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	T	A	19: 7,422,256	I456N	probably damaging	Het
Abca6	A	T	11: 110,191,628	V1173D	probably benign	Het
Ace	A	T	11: 105,972,379	M327L	probably benign	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bicdl2	C	T	17: 23,666,017	Q231*	probably null	Het
Brms1l	A	T	12: 55,866,053	D277V	possibly damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Col6a3	G	T	1: 90,810,621	P1059T	possibly damaging	Het
Coro1c	A	T	5: 113,848,597	M262K	probably benign	Het
Cpxm2	G	T	7: 132,057,695	P481Q	possibly damaging	Het
Dnah12	G	T	14: 26,829,329	V2543F	probably benign	Het
Dock2	A	C	11: 34,273,698	D1145E	probably damaging	Het
Elf3	G	A	1: 135,254,352	R364W	probably damaging	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,711,081		probably benign	Het
Epha3	A	G	16: 63,773,560	I55T	probably damaging	Het
Fam69c	G	A	18: 84,730,046		probably benign	Het
Gfer	C	A	17: 24,694,285	D198Y	probably damaging	Het
Gm10436	A	T	12: 88,176,083	I450N	probably benign	Het
Gm11568	A	T	11: 99,858,184	T72S	unknown	Het
Gm21994	C	T	2: 150,255,146	R121Q	probably benign	Het
Gm5415	A	C	1: 32,546,033	I265M	probably damaging	Het
Igkv3-1	C	T	6: 70,704,069	A84V	probably benign	Het
Il1rl2	A	C	1: 40,343,119	Y197S	probably damaging	Het
Il2ra	T	C	2: 11,680,336	I161T	possibly damaging	Het
Itgb8	C	T	12: 119,166,772	R667H	probably benign	Het
Kcnh7	G	A	2: 62,837,194	Q334*	probably null	Het
Lctl	A	C	9: 64,133,216	R480S	possibly damaging	Het
Lrba	T	G	3: 86,315,430	I617S	possibly damaging	Het
Marf1	G	T	16: 14,114,201	H1651N	probably benign	Het
Olfr569	A	G	7: 102,887,628	V175A	probably benign	Het
Olfr620	T	A	7: 103,611,772	I194F	possibly damaging	Het
Pecam1	A	G	11: 106,671,750	V708A	probably benign	Het
Pinlyp	C	T	7: 24,542,440		probably null	Het
Polh	G	A	17: 46,175,248	R382W	probably damaging	Het
Prdm10	A	G	9: 31,327,474	I221V	probably benign	Het
Pskh1	G	T	8: 105,913,090	R134L	probably benign	Het
Ptpre	A	G	7: 135,651,995	N6D	probably benign	Het
Rasgrp4	C	T	7: 29,150,610	P58L	unknown	Het
Rhbdf2	G	T	11: 116,602,240	C393*	probably null	Het
Rlf	T	C	4: 121,182,691	I174M	possibly damaging	Het
Ryr2	T	A	13: 11,706,623	R2641*	probably null	Het
Simc1	A	G	13: 54,524,832	H331R	probably benign	Het
Skp2	A	G	15: 9,122,241	S256P	probably benign	Het
Smarcd2	T	C	11: 106,267,566	R10G	probably benign	Het
Spef2	A	G	15: 9,687,895	L480P	possibly damaging	Het
Tenm4	A	G	7: 96,873,874	H1541R	probably damaging	Het
Top1	T	A	2: 160,714,088	L489Q	probably damaging	Het
Ttll13	C	T	7: 80,254,097	H258Y	probably damaging	Het
Unc80	A	G	1: 66,483,349	R237G	possibly damaging	Het
Vmn1r55	A	G	7: 5,146,624	F267L	probably benign	Het
Vmn2r96	T	A	17: 18,597,868	M761K	possibly damaging	Het
Vps33a	G	A	5: 123,570,979	H58Y	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp467	T	C	6: 48,439,181	Q179R	probably damaging	Het
Zfp729a	A	T	13: 67,619,948	S721T	possibly damaging	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
R1766:Mitf	UTSW	6	97941099	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
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'- GTTGGTCAACTGGTCAGTCTC -3'
(R):5'- AGTCCATTGCTAAGGGCGAG -3'

Sequencing Primer
(F):5'- GTCAGTCTCACAATCTATGCTACAGG -3'
(R):5'- TCCCACAGACAGTTAATGGAATG -3'

Posted On

2019-12-20