Mutagenetix > Incidental Mutation

Incidental Mutation 'R6351:Mitf'

514244

Institutional Source

Beutler Lab

Gene Symbol

Mitf

Ensembl Gene

ENSMUSG00000035158

Gene Name

melanogenesis associated transcription factor

Synonyms

Gsfbcc2, mi, BCC2, bHLHe32, wh

Accession Numbers

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R6351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97784013-97998310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97980873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 238 (D238G)

Ref Sequence

ENSEMBL: ENSMUSP00000108965 (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: D156G

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044459
Gene: ENSMUSG00000035158
AA Change: D156G

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: D263G

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000044938
Gene: ENSMUSG00000035158
AA Change: D263G

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: D247G

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000098683
Gene: ENSMUSG00000035158
AA Change: D247G

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

possibly damaging
Transcript: ENSMUST00000113339
AA Change: D238G

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108965
Gene: ENSMUSG00000035158
AA Change: D238G

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: D263G

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000145132
Gene: ENSMUSG00000035158
AA Change: D263G

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

possibly damaging
Transcript: ENSMUST00000203938
AA Change: D100G

PolyPhen 2 Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144988
Gene: ENSMUSG00000035158
AA Change: D100G

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

0.7210

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

99% (95/96)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1a	C	A	9: 119,170,630 (GRCm39)	S17*	probably null	Het
Adamts16	T	A	13: 70,984,322 (GRCm39)	S114C	probably damaging	Het
Agpat5	T	C	8: 18,896,724 (GRCm39)	V50A	probably benign	Het
Agrn	T	C	4: 156,263,891 (GRCm39)	N124S	probably benign	Het
Ak8	T	C	2: 28,625,638 (GRCm39)	I227T	probably benign	Het
Akap6	A	G	12: 53,188,808 (GRCm39)	E2074G	probably damaging	Het
Apc	T	A	18: 34,445,265 (GRCm39)	S702R	probably damaging	Het
Ascc3	T	C	10: 50,596,769 (GRCm39)	I1233T	probably damaging	Het
Asphd2	A	T	5: 112,533,698 (GRCm39)	F318I	probably damaging	Het
Bltp1	G	A	3: 36,962,377 (GRCm39)	A493T	probably damaging	Het
Bnc2	T	C	4: 84,211,380 (GRCm39)	T397A	probably benign	Het
Bpifb4	C	T	2: 153,799,054 (GRCm39)	T528I	probably damaging	Het
Brinp3	A	G	1: 146,777,323 (GRCm39)	E590G	probably damaging	Het
Ccdc149	A	G	5: 52,542,477 (GRCm39)	S372P	probably benign	Het
Cdhr2	A	G	13: 54,874,589 (GRCm39)	H887R	probably benign	Het
Clcn6	C	T	4: 148,101,957 (GRCm39)	V376I	probably benign	Het
Cntln	T	G	4: 85,033,591 (GRCm39)	C1305W	probably damaging	Het
Cspg4	A	G	9: 56,799,928 (GRCm39)	D1564G	probably benign	Het
Cux1	A	T	5: 136,338,646 (GRCm39)	S582T	probably damaging	Het
Cwh43	G	A	5: 73,569,248 (GRCm39)	A97T	possibly damaging	Het
Dsc1	A	T	18: 20,219,826 (GRCm39)	F781L	probably damaging	Het
Dsc3	G	T	18: 20,099,348 (GRCm39)	H723N	probably benign	Het
Ear10	A	T	14: 44,160,512 (GRCm39)	V105D	probably damaging	Het
Ecel1	A	G	1: 87,077,231 (GRCm39)	V659A	possibly damaging	Het
Eogt	A	T	6: 97,097,155 (GRCm39)	F316I	probably damaging	Het
Etaa1	T	C	11: 17,897,188 (GRCm39)	N310D	possibly damaging	Het
Exoc3l2	G	A	7: 19,203,633 (GRCm39)	R75Q	possibly damaging	Het
Fam186a	A	C	15: 99,839,623 (GRCm39)	L2207R	probably damaging	Het
Fam187b	T	C	7: 30,677,024 (GRCm39)	Y178H	probably damaging	Het
Fat1	A	T	8: 45,486,532 (GRCm39)	Q3362L	probably damaging	Het
Fat3	A	T	9: 15,849,694 (GRCm39)	S3903T	probably damaging	Het
Fsip2	G	A	2: 82,823,028 (GRCm39)	V6254I	possibly damaging	Het
Gabra5	T	C	7: 57,063,528 (GRCm39)	T299A	probably damaging	Het
Gbp11	T	C	5: 105,475,464 (GRCm39)	T295A	probably benign	Het
Glcci1	C	T	6: 8,573,203 (GRCm39)	Q44*	probably null	Het
Gpc5	A	T	14: 115,636,612 (GRCm39)	T432S	probably benign	Het
Grhl1	G	A	12: 24,634,857 (GRCm39)	E228K	probably damaging	Het
Hyal5	T	C	6: 24,891,708 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ints9	A	G	14: 65,230,456 (GRCm39)	I128V	probably damaging	Het
Kcnt2	A	T	1: 140,302,850 (GRCm39)	N130I	probably damaging	Het
Krba1	T	C	6: 48,391,062 (GRCm39)	V717A	probably benign	Het
Lrp12	T	A	15: 39,741,584 (GRCm39)	D377V	probably damaging	Het
Magi1	G	T	6: 93,920,210 (GRCm39)	D135E	possibly damaging	Het
Map10	T	A	8: 126,397,984 (GRCm39)	L459Q	probably damaging	Het
Ms4a19	C	T	19: 11,119,765 (GRCm39)	G14D	probably damaging	Het
Mylk	G	T	16: 34,742,341 (GRCm39)	R951L	probably benign	Het
Nacad	T	A	11: 6,549,235 (GRCm39)	D1272V	probably damaging	Het
Nacad	T	A	11: 6,550,165 (GRCm39)	K1009*	probably null	Het
Ncor1	T	C	11: 62,264,124 (GRCm39)	D786G	probably benign	Het
Oas2	G	A	5: 120,886,603 (GRCm39)	R188C	probably benign	Het
Odf2l	A	G	3: 144,841,479 (GRCm39)	I300V	probably benign	Het
Or1j10	T	A	2: 36,267,208 (GRCm39)	V140D	possibly damaging	Het
Or51b17	A	T	7: 103,542,342 (GRCm39)	L200*	probably null	Het
Or51v8	A	G	7: 103,320,163 (GRCm39)	I25T	possibly damaging	Het
Or5p60	A	G	7: 107,723,637 (GRCm39)	S278P	probably damaging	Het
Or9i1	A	G	19: 13,839,186 (GRCm39)	T10A	probably benign	Het
Pes1	T	A	11: 3,928,865 (GRCm39)	D574E	probably benign	Het
Phf20	C	T	2: 156,136,130 (GRCm39)	R650C	possibly damaging	Het
Pias4	G	A	10: 80,993,098 (GRCm39)	T248I	probably damaging	Het
Pkhd1	T	C	1: 20,282,175 (GRCm39)	T2889A	probably benign	Het
Plcxd1	C	A	5: 110,250,033 (GRCm39)		probably null	Het
Plekha7	A	G	7: 115,776,133 (GRCm39)	F194L	probably damaging	Het
Plxnb2	T	C	15: 89,041,973 (GRCm39)	N1642S	possibly damaging	Het
Pnpla7	A	T	2: 24,901,576 (GRCm39)	D534V	probably damaging	Het
Ppp2r5c	A	T	12: 110,521,313 (GRCm39)	S279C	probably damaging	Het
Ptprq	T	A	10: 107,544,529 (GRCm39)	T334S	probably damaging	Het
Rab39	T	C	9: 53,597,821 (GRCm39)	D148G	probably benign	Het
Reep3	A	T	10: 66,870,432 (GRCm39)	F121L	probably benign	Het
Reln	G	T	5: 22,106,661 (GRCm39)	C3236*	probably null	Het
Rrp8	C	T	7: 105,384,016 (GRCm39)	C162Y	probably damaging	Het
Scrib	C	A	15: 75,936,835 (GRCm39)	Q399H	possibly damaging	Het
Sertad1	T	A	7: 27,189,224 (GRCm39)	Y182N	possibly damaging	Het
Sfrp5	A	G	19: 42,190,263 (GRCm39)	V63A	possibly damaging	Het
Shoc1	T	C	4: 59,069,317 (GRCm39)	D703G	probably benign	Het
Slc46a1	T	C	11: 78,357,985 (GRCm39)	M346T	probably benign	Het
Sycp2	A	G	2: 178,005,209 (GRCm39)	L886S	probably damaging	Het
Teddm1b	A	T	1: 153,750,505 (GRCm39)	I105F	probably benign	Het
Thumpd1	A	T	7: 119,319,828 (GRCm39)	I46N	possibly damaging	Het
Tmod4	A	G	3: 95,035,164 (GRCm39)	N223S	probably damaging	Het
Tnfrsf10b	G	C	14: 70,010,850 (GRCm39)	C85S	probably damaging	Het
Tox	T	C	4: 6,697,439 (GRCm39)	T455A	probably benign	Het
Tox	T	C	4: 6,741,536 (GRCm39)	Q148R	probably benign	Het
Trp53bp1	A	C	2: 121,100,426 (GRCm39)	S109R	probably damaging	Het
Tshz2	A	T	2: 169,726,888 (GRCm39)	T26S	probably benign	Het
Tubb4a	T	A	17: 57,388,016 (GRCm39)	N337Y	probably damaging	Het
Tubb6	T	A	18: 67,534,458 (GRCm39)	V119E	probably damaging	Het
Unk	C	T	11: 115,945,772 (GRCm39)	T481I	probably benign	Het
Vmn2r112	C	T	17: 22,820,259 (GRCm39)	T44I	probably benign	Het
Vstm5	G	A	9: 15,168,829 (GRCm39)	G131D	probably damaging	Het
Wscd1	T	C	11: 71,650,709 (GRCm39)	L12P	probably damaging	Het
Zfp369	T	A	13: 65,444,044 (GRCm39)	S396T	possibly damaging	Het
Zfp932	T	A	5: 110,157,209 (GRCm39)	C302*	probably null	Het
Zfp972	A	T	2: 177,548,728 (GRCm39)		probably null	Het
Zfyve21	C	A	12: 111,794,028 (GRCm39)	A212E	probably benign	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
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
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'- ATGTGCCCACCAGACAGAAG -3'
(R):5'- ACGTTGCTGTTCCGTTGGTAAC -3'

Sequencing Primer
(F):5'- CATATAATTCTGTGTGAGTCCTCAG -3'
(R):5'- TTGGTAACGCTCCCCAGTG -3'

Posted On

2018-04-27