Mutagenetix > Incidental Mutation

Incidental Mutation 'R1891:Mitf'

211483

Institutional Source

Beutler Lab

Gene Symbol

Mitf

Ensembl Gene

ENSMUSG00000035158

Gene Name

melanogenesis associated transcription factor

Synonyms

wh, mi, Gsfbcc2, bHLHe32, BCC2

MMRRC Submission

039911-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R1891 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97807052-98021349 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97941276 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 94 (T94A)

Ref Sequence

ENSEMBL: ENSMUSP00000098683 (fasta)

Gene Model

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

AlphaFold

Q08874

Predicted Effect

probably benign
Transcript: ENSMUST00000043637
AA Change: T110A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000044938
Gene: ENSMUSG00000035158
AA Change: T110A

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 benign
Transcript: ENSMUST00000101123
AA Change: T94A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000098683
Gene: ENSMUSG00000035158
AA Change: T94A

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 benign
Transcript: ENSMUST00000113339
AA Change: T85A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108965
Gene: ENSMUSG00000035158
AA Change: T85A

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: T110A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145132
Gene: ENSMUSG00000035158
AA Change: T110A

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: 95.4%
20x: 92.7%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	T	6: 40,926,033	M135K	possibly damaging	Het
Abca7	T	C	10: 80,005,040	I921T	possibly damaging	Het
Abca8a	T	C	11: 110,091,607	K3R	probably benign	Het
Adgrl3	A	T	5: 81,512,044	D152V	probably damaging	Het
Akap6	A	T	12: 53,142,175	D2124V	possibly damaging	Het
Akt1	A	G	12: 112,659,575	F88L	probably damaging	Het
Ankrd24	T	C	10: 81,643,508		probably benign	Het
Arid4b	T	A	13: 14,136,236	N141K	possibly damaging	Het
Cacna1c	C	A	6: 118,776,519	D219Y	probably damaging	Het
Ccdc113	A	G	8: 95,540,916	K170E	probably damaging	Het
Ccdc151	G	T	9: 21,995,381		probably null	Het
Ceacam9	A	G	7: 16,723,955	E136G	probably damaging	Het
Cfap43	A	G	19: 47,813,941	L333P	probably damaging	Het
Chl1	A	G	6: 103,714,583	D1062G	possibly damaging	Het
Ckb	TCCACCACCA	TCCACCA	12: 111,669,645		probably benign	Het
Clpp	T	A	17: 56,991,307	V91E	probably damaging	Het
Cndp1	A	T	18: 84,619,633	H325Q	probably null	Het
Cngb3	A	G	4: 19,366,446	N169S	probably benign	Het
Cog6	A	C	3: 52,983,180	I613R	probably benign	Het
Creb3l1	A	G	2: 91,987,040	L376P	probably damaging	Het
Cry2	A	T	2: 92,413,640	V396D	possibly damaging	Het
Cxxc5	A	G	18: 35,859,265	M240V	possibly damaging	Het
Defa28	G	A	8: 21,583,785	C68Y	probably damaging	Het
Dgcr14	C	T	16: 17,907,780	W183*	probably null	Het
Ecd	A	G	14: 20,338,159	I187T	probably damaging	Het
Erg28	A	G	12: 85,816,188	S117P	probably benign	Het
Ergic2	A	T	6: 148,183,079	C319S	probably damaging	Het
Evc2	A	C	5: 37,392,079	D773A	probably damaging	Het
Fam151b	T	A	13: 92,450,170	T252S	probably benign	Het
Fbxo28	A	T	1: 182,317,824	M233K	probably benign	Het
Fbxw26	T	G	9: 109,722,164	D355A	probably benign	Het
Gm13101	A	T	4: 143,966,665	V81E	probably damaging	Het
Gm4884	G	C	7: 41,043,115	E169D	possibly damaging	Het
Hk2	C	T	6: 82,749,283	R94Q	probably benign	Het
Hps4	G	A	5: 112,369,556		probably null	Het
Hspg2	T	A	4: 137,565,490	D4126E	probably damaging	Het
Kif13a	T	C	13: 46,929,219	E48G	possibly damaging	Het
Krt31	T	A	11: 100,047,808	N320Y	probably damaging	Het
Lca5	T	C	9: 83,395,608	Y561C	probably damaging	Het
Lrrk1	G	A	7: 66,279,300	L1195F	probably damaging	Het
Ly6g6d	A	C	17: 35,074,293	Y25*	probably null	Het
Map3k13	T	G	16: 21,911,086	M489R	probably damaging	Het
Mcm6	C	T	1: 128,335,810	R658H	probably damaging	Het
Mecp2	C	T	X: 74,037,175	A79T	probably damaging	Het
Mpo	T	A	11: 87,801,280	L513*	probably null	Het
Mst1r	T	A	9: 107,913,462	N722K	probably damaging	Het
Mthfd1l	T	A	10: 4,032,284	L497*	probably null	Het
Mtus1	C	T	8: 41,084,325	S118N	probably damaging	Het
Mybbp1a	C	T	11: 72,446,037	T565I	probably benign	Het
Naip2	C	T	13: 100,154,887	R1181K	probably benign	Het
Nbas	T	C	12: 13,390,972	M1101T	possibly damaging	Het
Olfr10	T	C	11: 49,317,857	F104L	probably benign	Het
Olfr1313	A	T	2: 112,072,394	L63Q	probably damaging	Het
Olfr19	T	A	16: 16,673,577	I135F	probably damaging	Het
Olfr290	T	A	7: 84,916,253	V158D	possibly damaging	Het
Olfr685	A	T	7: 105,180,547	Y270*	probably null	Het
Olfr820	T	C	10: 130,017,570	S70P	probably damaging	Het
Olfr835	T	C	9: 19,035,978	L285S	probably damaging	Het
Olfr875	T	A	9: 37,772,867	D69E	possibly damaging	Het
Oxct2b	A	G	4: 123,117,145	D286G	probably benign	Het
Pax5	A	T	4: 44,691,859	V129E	probably damaging	Het
Pax7	G	A	4: 139,784,626	R215C	probably damaging	Het
Pcdh7	A	T	5: 57,720,875	I591F	probably damaging	Het
Pcdhb22	T	C	18: 37,519,304	V275A	probably damaging	Het
Pkp3	C	T	7: 141,084,056		probably null	Het
Plekhb1	A	G	7: 100,655,392	L35P	probably damaging	Het
Pole	T	A	5: 110,332,542	F1993Y	probably damaging	Het
Prdx1	T	C	4: 116,699,254	*200R	probably null	Het
Prkdc	C	A	16: 15,725,436	T1777N	probably benign	Het
Ptpn14	G	A	1: 189,798,653	V106M	probably damaging	Het
Ptpn23	T	C	9: 110,393,800	E63G	possibly damaging	Het
Qser1	A	C	2: 104,790,099	S123A	probably benign	Het
Rbm11	A	G	16: 75,600,787	N202D	possibly damaging	Het
Robo3	T	A	9: 37,428,055	Y212F	probably damaging	Het
Sde2	G	A	1: 180,860,008	S153N	probably benign	Het
Serpinb1c	T	A	13: 32,884,252	D179V	probably benign	Het
Skint6	T	C	4: 112,846,696	D994G	possibly damaging	Het
Sorbs1	A	G	19: 40,393,460	S46P	probably damaging	Het
St8sia4	T	C	1: 95,591,708	T352A	possibly damaging	Het
Stab1	C	A	14: 31,141,330	R2133L	probably benign	Het
Stk11ip	T	C	1: 75,532,416	C730R	probably benign	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tex33	T	A	15: 78,378,752	D234V	probably damaging	Het
Tle4	A	T	19: 14,544,786		probably null	Het
Tmem200a	T	A	10: 25,994,072	N100Y	probably damaging	Het
Tnnt2	A	T	1: 135,840,859		probably null	Het
Ttn	T	A	2: 76,875,958		probably benign	Het
Ubac1	A	G	2: 26,014,962	V88A	probably benign	Het
Urgcp	T	C	11: 5,716,910	E476G	probably benign	Het
Vmn1r201	G	A	13: 22,475,255	R213H	probably benign	Het
Vmn2r84	C	T	10: 130,386,069	V761M	possibly damaging	Het
Vwde	A	T	6: 13,187,455	Y678N	probably damaging	Het
Wnk2	C	A	13: 49,052,724	E1865*	probably null	Het
Zc3h3	A	C	15: 75,756,931	M838R	possibly damaging	Het
Zfp959	T	A	17: 55,897,604	C211S	probably 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
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'- TTCTGGTTTCCCCACAGCAG -3'
(R):5'- CAAAGCCTTATAGGAACCACTGG -3'

Sequencing Primer
(F):5'- AGCAGTTCTGCAGAGCATTC -3'
(R):5'- CCTTATAGGAACCACTGGAAGCAATG -3'

Posted On

2014-06-30