Mutagenetix > Incidental Mutation

Incidental Mutation 'R9187:Mitf'

697437

Institutional Source

Beutler Lab

Gene Symbol

Mitf

Ensembl Gene

ENSMUSG00000035158

Gene Name

melanogenesis associated transcription factor

Synonyms

Gsfbcc2, mi, BCC2, bHLHe32, wh

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R9187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97784013-97998310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97994835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 427 (V427D)

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 benign
Transcript: ENSMUST00000043628
AA Change: V320D

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000044459
Gene: ENSMUSG00000035158
AA Change: V320D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043637
AA Change: V427D

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000044938
Gene: ENSMUSG00000035158
AA Change: V427D

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: V411D

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000098683
Gene: ENSMUSG00000035158
AA Change: V411D

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: V402D

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108965
Gene: ENSMUSG00000035158
AA Change: V402D

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 benign
Transcript: ENSMUST00000203884
AA Change: V421D

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

SMART Domains

Protein: ENSMUSP00000145132
Gene: ENSMUSG00000035158
AA Change: V421D

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
AA Change: V258D

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

SMART Domains

Protein: ENSMUSP00000144988
Gene: ENSMUSG00000035158
AA Change: V258D

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: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

97% (70/72)

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
Abca5	A	G	11: 110,200,961 (GRCm39)		probably null	Het
Abcb1a	T	A	5: 8,765,016 (GRCm39)	C669S	probably benign	Het
Abcc3	A	G	11: 94,255,913 (GRCm39)	L524P	probably damaging	Het
Akap5	A	T	12: 76,376,745 (GRCm39)	K726*	probably null	Het
Aldh16a1	T	C	7: 44,791,441 (GRCm39)	E778G	probably damaging	Het
Ankle2	G	A	5: 110,400,610 (GRCm39)	V649M	possibly damaging	Het
Apon	A	G	10: 128,090,832 (GRCm39)	N170S	probably benign	Het
Baiap2l1	T	C	5: 144,217,764 (GRCm39)	Y274C	probably benign	Het
Bub1	A	T	2: 127,656,856 (GRCm39)	N425K	possibly damaging	Het
Camsap1	A	G	2: 25,820,028 (GRCm39)	C1487R	probably damaging	Het
Cd4	A	C	6: 124,844,651 (GRCm39)	V378G	probably damaging	Het
Cenpa	C	A	5: 30,824,380 (GRCm39)	P3Q	unknown	Het
Cfap44	T	C	16: 44,225,144 (GRCm39)		probably benign	Het
Cfap65	T	A	1: 74,956,517 (GRCm39)	M1021L	probably benign	Het
Ddx39a	G	T	8: 84,449,113 (GRCm39)	M300I	probably benign	Het
Dgkh	T	C	14: 78,832,601 (GRCm39)	R819G	probably damaging	Het
Dlc1	A	T	8: 37,405,786 (GRCm39)	M1K	probably null	Het
Dnah9	A	G	11: 65,895,972 (GRCm39)	W2468R	probably benign	Het
Ebag9	A	T	15: 44,503,706 (GRCm39)	K177I	probably damaging	Het
Ehbp1	T	C	11: 22,101,184 (GRCm39)	I249V	probably damaging	Het
Fam171b	T	C	2: 83,710,365 (GRCm39)	V679A	probably damaging	Het
Gabbr2	G	A	4: 46,674,533 (GRCm39)	T818I	probably damaging	Het
Gcn1	T	C	5: 115,752,177 (GRCm39)	S2098P	probably damaging	Het
Glb1	T	C	9: 114,302,991 (GRCm39)	I609T	probably damaging	Het
Gm5916	T	G	9: 36,032,020 (GRCm39)	H88P	probably benign	Het
Gon4l	T	C	3: 88,786,618 (GRCm39)	S586P	probably benign	Het
Gzmg	T	A	14: 56,394,714 (GRCm39)	T185S	probably benign	Het
Hipk3	T	A	2: 104,276,936 (GRCm39)	D381V	probably damaging	Het
Hnrnpul2	C	A	19: 8,808,319 (GRCm39)	N681K	probably benign	Het
Hpdl	C	A	4: 116,678,372 (GRCm39)	G30C	probably damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Krt82	C	A	15: 101,450,260 (GRCm39)	V479L	probably benign	Het
Lama4	G	A	10: 38,924,124 (GRCm39)		probably null	Het
Lamc1	C	A	1: 153,097,434 (GRCm39)	E1537*	probably null	Het
Mab21l3	G	A	3: 101,730,594 (GRCm39)	T215M	probably benign	Het
Magi3	C	A	3: 103,923,073 (GRCm39)	V1215F	possibly damaging	Het
Mical2	T	A	7: 111,902,797 (GRCm39)	C89*	probably null	Het
Muc4	T	C	16: 32,589,102 (GRCm39)	V753A		Het
Myo16	G	A	8: 10,492,233 (GRCm39)	R725H	unknown	Het
Ncapg2	T	A	12: 116,402,287 (GRCm39)	D706E	probably damaging	Het
Ndst1	T	C	18: 60,824,268 (GRCm39)	D803G	probably benign	Het
Neb	A	T	2: 52,096,115 (GRCm39)	V5065D	probably damaging	Het
Npm3	G	A	19: 45,737,941 (GRCm39)	R19*	probably null	Het
Ntrk3	A	C	7: 77,896,966 (GRCm39)	N690K	possibly damaging	Het
Or7g32	T	C	9: 19,389,166 (GRCm39)	I127V	probably benign	Het
Or7g35	T	C	9: 19,495,950 (GRCm39)	I39T	probably benign	Het
Or8d4	C	A	9: 40,038,886 (GRCm39)	V124L	possibly damaging	Het
P3h2	G	A	16: 25,924,186 (GRCm39)	A83V	probably benign	Het
Pdia2	A	G	17: 26,415,910 (GRCm39)	S362P	probably damaging	Het
Pmp22	C	T	11: 63,025,268 (GRCm39)	H34Y	probably benign	Het
Pmp22	T	C	11: 63,025,317 (GRCm39)	V50A	probably benign	Het
Ppfia4	T	C	1: 134,255,006 (GRCm39)	D283G	probably damaging	Het
Pramel58	T	C	5: 94,831,755 (GRCm39)	V254A	probably benign	Het
Prss55	T	A	14: 64,314,531 (GRCm39)	Q213L	probably null	Het
Rgsl1	C	T	1: 153,669,613 (GRCm39)	E258K	possibly damaging	Het
Ripor2	T	C	13: 24,897,632 (GRCm39)	F777L	probably benign	Het
Rsf1	GGC	GGCGGCGGCCGC	7: 97,229,140 (GRCm39)		probably benign	Het
Sgce	G	A	6: 4,711,362 (GRCm39)	R173C	probably benign	Het
Sncaip	T	G	18: 53,040,011 (GRCm39)	M735R	probably benign	Het
Snrpd2	T	A	7: 18,886,505 (GRCm39)	I96N	probably damaging	Het
Spryd3	T	G	15: 102,039,110 (GRCm39)	D121A	probably damaging	Het
Srsf3-ps	A	G	11: 98,516,187 (GRCm39)	V62A	possibly damaging	Het
Sspo	T	C	6: 48,472,223 (GRCm39)	C149R	probably damaging	Het
Tbc1d10b	A	T	7: 126,807,105 (GRCm39)	M144K	probably benign	Het
Tbc1d31	T	A	15: 57,779,485 (GRCm39)	I66N	probably damaging	Het
Tssk1	A	G	16: 17,712,457 (GRCm39)	T81A	possibly damaging	Het
Ttc28	A	G	5: 111,249,902 (GRCm39)	Y284C	probably damaging	Het
Ttn	T	C	2: 76,573,755 (GRCm39)	T25713A	probably benign	Het
Vmn2r125	T	C	4: 156,703,554 (GRCm39)	W311R	probably damaging	Het
Vmn2r80	A	T	10: 79,030,438 (GRCm39)	T755S	probably benign	Het
Vmn2r98	T	C	17: 19,301,481 (GRCm39)	C828R	probably damaging	Het
Wwox	T	C	8: 115,438,978 (GRCm39)	F348S	probably damaging	Het
Zeb2	T	A	2: 45,000,040 (GRCm39)	R65W	possibly damaging	Het
Zfp712	T	A	13: 67,188,637 (GRCm39)	H630L	probably damaging	Het
Zfp764	G	T	7: 127,004,608 (GRCm39)	H174Q	probably damaging	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
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
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'- GTCCTCCAAAACCTTAGGTAGAG -3'
(R):5'- TGACTCCAACAGGTGAGAGG -3'

Sequencing Primer
(F):5'- CCTTAGGTAGAGACACTAATGGG -3'
(R):5'- TGAGAGGGCATCGTCCATCAG -3'

Posted On

2022-02-07