Mutagenetix > Incidental Mutation

Incidental Mutation 'R7904:Mitf'

610156

Institutional Source

Beutler Lab

Gene Symbol

Mitf

Ensembl Gene

ENSMUSG00000035158

Gene Name

melanogenesis associated transcription factor

Synonyms

Gsfbcc2, mi, BCC2, bHLHe32, wh

MMRRC Submission

045956-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R7904 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97784013-97998310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97990671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 358 (V358A)

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: V251A

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

SMART Domains

Protein: ENSMUSP00000044459
Gene: ENSMUSG00000035158
AA Change: V251A

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: V358A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000044938
Gene: ENSMUSG00000035158
AA Change: V358A

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: V342A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098683
Gene: ENSMUSG00000035158
AA Change: V342A

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: V333A

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

SMART Domains

Protein: ENSMUSP00000108965
Gene: ENSMUSG00000035158
AA Change: V333A

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 benign
Transcript: ENSMUST00000139462

Predicted Effect

probably damaging
Transcript: ENSMUST00000203884
AA Change: V352A

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

SMART Domains

Protein: ENSMUSP00000145132
Gene: ENSMUSG00000035158
AA Change: V352A

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 damaging
Transcript: ENSMUST00000203938
AA Change: V189A

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

SMART Domains

Protein: ENSMUSP00000144988
Gene: ENSMUSG00000035158
AA Change: V189A

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

Meta Mutation Damage Score

0.8682

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (72/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	G	A	7: 139,567,591 (GRCm39)	T384I	probably benign	Het
Astn1	T	C	1: 158,424,886 (GRCm39)	F691L	probably benign	Het
Azgp1	A	G	5: 137,985,869 (GRCm39)	E164G	probably damaging	Het
Bdp1	A	G	13: 100,177,944 (GRCm39)	V1975A	probably benign	Het
Cactin	T	C	10: 81,161,699 (GRCm39)	Y744H	possibly damaging	Het
Clstn1	T	A	4: 149,698,594 (GRCm39)	I60N	probably benign	Het
Col16a1	T	A	4: 129,948,001 (GRCm39)	C240*	probably null	Het
Col6a5	T	C	9: 105,805,720 (GRCm39)	D1062G	unknown	Het
Csmd2	T	C	4: 128,313,346 (GRCm39)	L1341P		Het
Cyp51	A	T	5: 4,150,173 (GRCm39)	F183L	probably damaging	Het
Dbnl	T	A	11: 5,741,779 (GRCm39)		probably null	Het
Ddx60	G	A	8: 62,430,924 (GRCm39)	V820I	possibly damaging	Het
Dnaaf9	A	T	2: 130,633,923 (GRCm39)		probably null	Het
Dnah11	T	A	12: 117,867,003 (GRCm39)	D4046V	possibly damaging	Het
Dnah6	G	A	6: 73,112,450 (GRCm39)		probably null	Het
Dnttip1	A	G	2: 164,589,472 (GRCm39)	Y89C	probably benign	Het
Efr3a	T	A	15: 65,696,527 (GRCm39)	V144E	probably damaging	Het
Epha8	T	C	4: 136,659,050 (GRCm39)	Q868R	possibly damaging	Het
Ercc5	G	T	1: 44,214,998 (GRCm39)		probably null	Het
Fam118a	A	G	15: 84,929,834 (GRCm39)	S21G	probably damaging	Het
Fam171b	T	C	2: 83,683,849 (GRCm39)	I122T	probably damaging	Het
Fat4	T	A	3: 38,941,690 (GRCm39)	S194R	probably damaging	Het
Fcho2	T	A	13: 98,932,871 (GRCm39)	T44S	possibly damaging	Het
Gm21698	C	A	5: 26,189,256 (GRCm39)	L232F	probably benign	Het
Gpr149	T	A	3: 62,502,356 (GRCm39)	D500V	probably benign	Het
Gpx8	T	A	13: 113,182,035 (GRCm39)	T133S	probably benign	Het
Hdlbp	A	T	1: 93,351,092 (GRCm39)	I542N	probably damaging	Het
Hid1	G	A	11: 115,246,187 (GRCm39)	S361F	probably damaging	Het
Igdcc4	C	A	9: 65,041,801 (GRCm39)	A1076E	probably benign	Het
Il4ra	A	G	7: 125,164,845 (GRCm39)	K7E	probably benign	Het
Inka2	T	C	3: 105,623,730 (GRCm39)	C35R	probably damaging	Het
Itga9	G	T	9: 118,706,294 (GRCm39)		probably null	Het
Kif5c	T	C	2: 49,591,095 (GRCm39)	S316P	probably damaging	Het
Kmt5c	A	T	7: 4,749,158 (GRCm39)	T264S	probably damaging	Het
Litafd	A	G	16: 8,501,681 (GRCm39)	H61R		Het
Lrrc18	A	G	14: 32,731,052 (GRCm39)	N197S	probably benign	Het
Mcoln1	C	A	8: 3,558,356 (GRCm39)	D203E	probably benign	Het
Mki67	A	T	7: 135,294,816 (GRCm39)	L3161Q	possibly damaging	Het
Mmp20	T	A	9: 7,644,076 (GRCm39)	F255I	possibly damaging	Het
Muc16	T	C	9: 18,566,946 (GRCm39)	T1858A	unknown	Het
Mug1	G	A	6: 121,828,424 (GRCm39)	V279I	probably benign	Het
Or6c68	T	C	10: 129,157,665 (GRCm39)	Y58H	probably damaging	Het
Otulin	G	T	15: 27,630,580 (GRCm39)	A39E	probably benign	Het
Pcdh17	A	T	14: 84,685,924 (GRCm39)	D797V	possibly damaging	Het
Pdlim5	G	A	3: 142,018,154 (GRCm39)	S147L	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Ppp2r1a	T	G	17: 21,182,003 (GRCm39)		probably null	Het
Ranbp6	T	C	19: 29,789,813 (GRCm39)	I180V	probably benign	Het
Rbm27	G	T	18: 42,465,921 (GRCm39)	R869L	probably damaging	Het
Rtn4r	A	G	16: 17,969,349 (GRCm39)	D259G	probably benign	Het
Ryr3	T	C	2: 112,611,369 (GRCm39)	E2271G	probably damaging	Het
Sbk1	A	G	7: 125,891,208 (GRCm39)	Y214C	probably damaging	Het
Scg3	C	T	9: 75,551,149 (GRCm39)	E459K	probably damaging	Het
Scin	T	G	12: 40,126,999 (GRCm39)	E449D	probably damaging	Het
Sel1l3	T	C	5: 53,297,166 (GRCm39)	K760R	probably benign	Het
Sh3pxd2a	A	G	19: 47,308,753 (GRCm39)	L145S	possibly damaging	Het
Sh3yl1	A	G	12: 30,991,995 (GRCm39)	D188G	probably benign	Het
Slc38a1	A	T	15: 96,521,921 (GRCm39)	L13Q	possibly damaging	Het
Smyd4	T	C	11: 75,240,613 (GRCm39)	I36T	possibly damaging	Het
Spata31f1a	A	G	4: 42,850,765 (GRCm39)	S464P	possibly damaging	Het
Stab2	A	T	10: 86,790,056 (GRCm39)	L570*	probably null	Het
Tg	G	T	15: 66,577,128 (GRCm39)	A1484S	probably benign	Het
Tm7sf2	A	T	19: 6,118,942 (GRCm39)	N677K	probably damaging	Het
Tmem235	T	G	11: 117,751,717 (GRCm39)	L47R	probably damaging	Het
Tmem87a	A	G	2: 120,210,198 (GRCm39)	S252P	probably damaging	Het
Unc13b	A	G	4: 43,217,075 (GRCm39)	D458G	probably benign	Het
Wfdc1	A	G	8: 120,406,770 (GRCm39)		probably null	Het
Wnt16	A	G	6: 22,297,989 (GRCm39)	Y285C	probably damaging	Het
Wwc2	A	T	8: 48,309,270 (GRCm39)	N837K	unknown	Het
Xdh	A	G	17: 74,229,467 (GRCm39)	F329L	probably benign	Het
Yaf2	G	T	15: 93,183,466 (GRCm39)	H115N	probably benign	Het
Zbtb16	G	T	9: 48,744,272 (GRCm39)	N13K	probably damaging	Het
Zfhx3	A	T	8: 109,677,695 (GRCm39)	D2915V	probably damaging	Het
Zfp236	A	T	18: 82,627,507 (GRCm39)	V1564E	possibly damaging	Het
Zfp407	G	T	18: 84,579,381 (GRCm39)	H577Q	not run	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
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
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'- TGCACAATGTCTCCACCTTATG -3'
(R):5'- CTTAGGGCTTACTACATCACCC -3'

Sequencing Primer
(F):5'- TATACCAAATAAGGGACCAGTGGCC -3'
(R):5'- ACCCTTCCTATTGTCCTGAAATCAG -3'

Posted On

2019-12-20