Mutagenetix > Incidental Mutation

Incidental Mutation 'R0003:Myt1'

8191

Institutional Source

Beutler Lab

Gene Symbol

Myt1

Ensembl Gene

ENSMUSG00000010505

Gene Name

myelin transcription factor 1

Synonyms

NZF-2b, NZF-2a, Nztf2, Nzf2

MMRRC Submission

038299-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0003 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

181405125-181469590 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 181443664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 497 (G497S)

Ref Sequence

ENSEMBL: ENSMUSP00000104388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081125] [ENSMUST00000108756] [ENSMUST00000108757] [ENSMUST00000183403]

AlphaFold

Q8CFC2

Predicted Effect

probably damaging
Transcript: ENSMUST00000081125
AA Change: G539S

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

SMART Domains

Protein: ENSMUSP00000079900
Gene: ENSMUSG00000010505
AA Change: G539S

Domain	Start	End	E-Value	Type
Pfam:zf-C2HC	71	99	8.7e-16	PFAM
low complexity region	155	160	N/A	INTRINSIC
low complexity region	185	201	N/A	INTRINSIC
coiled coil region	300	354	N/A	INTRINSIC
low complexity region	388	405	N/A	INTRINSIC
Pfam:zf-C2HC	485	512	2.9e-14	PFAM
Pfam:zf-C2HC	529	557	4.3e-16	PFAM
Pfam:MYT1	604	660	2e-28	PFAM
Pfam:MYT1	659	835	2.3e-56	PFAM
Pfam:zf-C2HC	843	871	2e-18	PFAM
Pfam:zf-C2HC	887	915	1.9e-18	PFAM
Pfam:zf-C2HC	936	964	2.1e-16	PFAM
Pfam:zf-C2HC	989	1017	8.4e-16	PFAM
coiled coil region	1037	1109	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108756
AA Change: G497S

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

SMART Domains

Protein: ENSMUSP00000104387
Gene: ENSMUSG00000010505
AA Change: G497S

Domain	Start	End	E-Value	Type
Pfam:zf-C2HC	27	57	5.1e-18	PFAM
low complexity region	113	118	N/A	INTRINSIC
low complexity region	143	159	N/A	INTRINSIC
coiled coil region	258	312	N/A	INTRINSIC
low complexity region	346	363	N/A	INTRINSIC
Pfam:zf-C2HC	441	471	5e-17	PFAM
Pfam:zf-C2HC	485	515	3.1e-18	PFAM
Pfam:MYT1	562	618	2.4e-32	PFAM
Pfam:MYT1	617	794	2e-74	PFAM
Pfam:zf-C2HC	799	829	1.9e-19	PFAM
Pfam:zf-C2HC	843	873	9.7e-20	PFAM
Pfam:zf-C2HC	892	922	2.2e-18	PFAM
Pfam:zf-C2HC	945	975	1.7e-16	PFAM
coiled coil region	995	1067	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108757
AA Change: G497S

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

SMART Domains

Protein: ENSMUSP00000104388
Gene: ENSMUSG00000010505
AA Change: G497S

Domain	Start	End	E-Value	Type
Pfam:zf-C2HC	27	57	1e-17	PFAM
low complexity region	113	118	N/A	INTRINSIC
low complexity region	143	159	N/A	INTRINSIC
coiled coil region	258	312	N/A	INTRINSIC
low complexity region	346	363	N/A	INTRINSIC
Pfam:zf-C2HC	441	471	1e-16	PFAM
Pfam:zf-C2HC	485	510	6.2e-12	PFAM
Pfam:MYT1	524	580	2.7e-32	PFAM
Pfam:MYT1	579	756	2.3e-74	PFAM
Pfam:zf-C2HC	761	791	3.8e-19	PFAM
Pfam:zf-C2HC	805	835	1.9e-19	PFAM
Pfam:zf-C2HC	854	884	4.3e-18	PFAM
Pfam:zf-C2HC	907	937	3.3e-16	PFAM
coiled coil region	957	1029	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000129843
AA Change: G200S

SMART Domains

Protein: ENSMUSP00000115697
Gene: ENSMUSG00000010505
AA Change: G200S

Domain	Start	End	E-Value	Type
low complexity region	50	67	N/A	INTRINSIC
Pfam:zf-C2HC	147	174	6.2e-15	PFAM
Pfam:zf-C2HC	191	219	9.2e-17	PFAM
Pfam:MYT1	266	322	7.3e-29	PFAM
Pfam:MYT1	321	497	7.2e-57	PFAM
Pfam:zf-C2HC	505	533	9.6e-19	PFAM
Pfam:zf-C2HC	554	582	4.4e-17	PFAM
Pfam:zf-C2HC	607	635	1.8e-16	PFAM
coiled coil region	654	726	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000129856
AA Change: G230S

SMART Domains

Protein: ENSMUSP00000122011
Gene: ENSMUSG00000010505
AA Change: G230S

Domain	Start	End	E-Value	Type
Pfam:zf-C2HC	63	91	1.4e-16	PFAM
low complexity region	147	152	N/A	INTRINSIC
Pfam:zf-C2HC	177	204	4.6e-15	PFAM
Pfam:zf-C2HC	221	249	6.7e-17	PFAM
Pfam:MYT1	296	352	5.2e-29	PFAM
Pfam:MYT1	351	527	4.5e-57	PFAM
Pfam:zf-C2HC	535	556	1.4e-13	PFAM
Pfam:zf-C2HC	556	584	3.5e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142245

Predicted Effect

probably benign
Transcript: ENSMUST00000183403

Meta Mutation Damage Score

0.9502

Coding Region Coverage

1x: 80.3%
3x: 68.0%
10x: 36.1%
20x: 15.3%

Validation Efficiency

36% (21/58)

MGI Phenotype

FUNCTION: This gene is a member of the myelin transcription factor 1 gene family. The encoded protein, a zinc finger DNA-binding protein, is involved in regulation of oligodendrocyte differentiation and proliferation in the developing central nervous system. The gene product has a role in remyelination through regeneration of oligodendrocyte lineage cells in response to demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele die shortly after birth displaying improper diaphragm innervation and a failture to initiate breathing; mutant embryonic pancreata contain abnormal islet cells that express multiple hormones. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	T	C	18: 80,174,205 (GRCm39)	Y68C	probably damaging	Het
Arsi	C	T	18: 61,050,058 (GRCm39)	R314C	probably benign	Het
Cnnm3	T	C	1: 36,563,124 (GRCm39)	V696A	probably benign	Het
Decr2	A	T	17: 26,302,027 (GRCm39)	N234K	probably benign	Het
Eprs1	T	C	1: 185,146,588 (GRCm39)	V1206A	probably damaging	Het
Fmnl3	T	C	15: 99,219,013 (GRCm39)	T807A	probably damaging	Het
Ints3	C	A	3: 90,315,818 (GRCm39)	M315I	probably benign	Het
Lamc1	A	C	1: 153,138,185 (GRCm39)	L223R	probably damaging	Het
Loxhd1	T	C	18: 77,427,196 (GRCm39)	L398P	probably damaging	Het
Mx1	A	G	16: 97,252,788 (GRCm39)		probably benign	Het
Or5t17	T	A	2: 86,832,710 (GRCm39)	Y132*	probably null	Het
Or9q1	T	C	19: 13,805,050 (GRCm39)	T237A	probably damaging	Het
Ptgdr2	G	A	19: 10,917,792 (GRCm39)	C103Y	probably damaging	Het
Spta1	A	T	1: 174,032,839 (GRCm39)	Q965H	probably damaging	Het
Tfg	T	C	16: 56,511,351 (GRCm39)	Y326C	possibly damaging	Het
Ttn	T	C	2: 76,574,027 (GRCm39)	D25622G	probably damaging	Het

Other mutations in Myt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00478:Myt1	APN	2	181,442,908 (GRCm39)	missense	probably damaging	1.00
IGL00816:Myt1	APN	2	181,449,308 (GRCm39)	missense	probably damaging	0.97
IGL01062:Myt1	APN	2	181,439,522 (GRCm39)	missense	probably damaging	1.00
IGL01069:Myt1	APN	2	181,467,749 (GRCm39)	missense	probably damaging	1.00
IGL01292:Myt1	APN	2	181,446,805 (GRCm39)	missense	probably damaging	1.00
IGL01521:Myt1	APN	2	181,467,704 (GRCm39)	missense	probably damaging	1.00
IGL01926:Myt1	APN	2	181,463,790 (GRCm39)	missense	probably benign	0.00
IGL01976:Myt1	APN	2	181,437,532 (GRCm39)	missense	probably damaging	1.00
IGL02066:Myt1	APN	2	181,438,982 (GRCm39)	missense	probably damaging	1.00
IGL02109:Myt1	APN	2	181,457,410 (GRCm39)	splice site	probably benign
IGL02209:Myt1	APN	2	181,439,027 (GRCm39)	missense	probably benign	0.06
IGL02499:Myt1	APN	2	181,467,342 (GRCm39)	splice site	probably benign
IGL03064:Myt1	APN	2	181,439,594 (GRCm39)	missense	probably benign	0.31
IGL03394:Myt1	APN	2	181,439,638 (GRCm39)	missense	probably damaging	1.00
PIT4366001:Myt1	UTSW	2	181,467,731 (GRCm39)	missense	probably damaging	1.00
R0003:Myt1	UTSW	2	181,443,664 (GRCm39)	missense	probably damaging	1.00
R0362:Myt1	UTSW	2	181,405,186 (GRCm39)	unclassified	probably benign
R0627:Myt1	UTSW	2	181,437,482 (GRCm39)	missense	probably benign	0.10
R0650:Myt1	UTSW	2	181,424,408 (GRCm39)	nonsense	probably null
R0735:Myt1	UTSW	2	181,449,180 (GRCm39)	unclassified	probably benign
R0744:Myt1	UTSW	2	181,439,298 (GRCm39)	intron	probably benign
R1115:Myt1	UTSW	2	181,453,024 (GRCm39)	nonsense	probably null
R1460:Myt1	UTSW	2	181,444,725 (GRCm39)	missense	probably damaging	1.00
R1471:Myt1	UTSW	2	181,438,904 (GRCm39)	missense	probably benign
R1836:Myt1	UTSW	2	181,439,068 (GRCm39)	missense	probably benign
R1905:Myt1	UTSW	2	181,439,549 (GRCm39)	missense	probably damaging	1.00
R2007:Myt1	UTSW	2	181,437,552 (GRCm39)	missense	probably benign
R2040:Myt1	UTSW	2	181,467,717 (GRCm39)	missense	probably damaging	1.00
R2140:Myt1	UTSW	2	181,467,772 (GRCm39)	missense	probably damaging	1.00
R2323:Myt1	UTSW	2	181,448,350 (GRCm39)	missense	probably damaging	1.00
R2926:Myt1	UTSW	2	181,467,803 (GRCm39)	missense	possibly damaging	0.93
R3895:Myt1	UTSW	2	181,461,863 (GRCm39)	missense	probably damaging	1.00
R4093:Myt1	UTSW	2	181,453,191 (GRCm39)	missense	probably damaging	1.00
R4649:Myt1	UTSW	2	181,439,207 (GRCm39)	missense	probably benign
R4693:Myt1	UTSW	2	181,437,532 (GRCm39)	missense	probably damaging	1.00
R4775:Myt1	UTSW	2	181,464,470 (GRCm39)	missense	probably damaging	1.00
R4835:Myt1	UTSW	2	181,439,255 (GRCm39)	missense	probably damaging	0.99
R5111:Myt1	UTSW	2	181,437,678 (GRCm39)	missense	probably benign	0.01
R5120:Myt1	UTSW	2	181,439,413 (GRCm39)	missense	probably benign	0.25
R5622:Myt1	UTSW	2	181,438,915 (GRCm39)	missense	probably benign
R6457:Myt1	UTSW	2	181,405,218 (GRCm39)	splice site	probably null
R6704:Myt1	UTSW	2	181,453,005 (GRCm39)	start codon destroyed	probably null
R6752:Myt1	UTSW	2	181,442,875 (GRCm39)	missense	probably damaging	1.00
R6944:Myt1	UTSW	2	181,439,387 (GRCm39)	missense	possibly damaging	0.52
R7337:Myt1	UTSW	2	181,444,756 (GRCm39)	missense	possibly damaging	0.71
R7362:Myt1	UTSW	2	181,439,033 (GRCm39)	missense	probably benign	0.00
R7368:Myt1	UTSW	2	181,424,384 (GRCm39)	missense	possibly damaging	0.53
R7385:Myt1	UTSW	2	181,409,498 (GRCm39)	splice site	probably null
R7411:Myt1	UTSW	2	181,456,899 (GRCm39)	missense	probably damaging	1.00
R7593:Myt1	UTSW	2	181,439,532 (GRCm39)	missense	possibly damaging	0.54
R7790:Myt1	UTSW	2	181,439,390 (GRCm39)	missense	probably benign	0.00
R8035:Myt1	UTSW	2	181,437,532 (GRCm39)	missense	probably damaging	1.00
R8156:Myt1	UTSW	2	181,464,554 (GRCm39)	critical splice donor site	probably null
R8338:Myt1	UTSW	2	181,443,655 (GRCm39)	missense	possibly damaging	0.94
R8419:Myt1	UTSW	2	181,424,399 (GRCm39)	nonsense	probably null
R8553:Myt1	UTSW	2	181,439,344 (GRCm39)	missense	possibly damaging	0.91
R9071:Myt1	UTSW	2	181,448,420 (GRCm39)	missense	possibly damaging	0.87
R9144:Myt1	UTSW	2	181,467,805 (GRCm39)	missense	possibly damaging	0.95
R9290:Myt1	UTSW	2	181,437,667 (GRCm39)	missense	probably benign	0.31
R9462:Myt1	UTSW	2	181,467,729 (GRCm39)	nonsense	probably null
R9502:Myt1	UTSW	2	181,461,991 (GRCm39)	missense	probably damaging	0.98
R9668:Myt1	UTSW	2	181,452,135 (GRCm39)	missense	probably damaging	1.00
R9700:Myt1	UTSW	2	181,452,177 (GRCm39)	missense	probably damaging	1.00
RF006:Myt1	UTSW	2	181,439,566 (GRCm39)	missense	probably damaging	1.00
Z1177:Myt1	UTSW	2	181,449,395 (GRCm39)	missense	probably damaging	1.00
Z1177:Myt1	UTSW	2	181,438,955 (GRCm39)	missense	probably damaging	0.97

Posted On

2012-11-20