Mutagenetix > Incidental Mutation

Incidental Mutation 'R0744:Myt1'

70823

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

038925-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0744 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

181405125-181469590 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

TGAGGAGGAGGAGGAGGAGG to TGAGGAGGAGGAGGAGG at 181439298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139356 (fasta)

Gene Model

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

AlphaFold

Q8CFC2

Predicted Effect

probably benign
Transcript: ENSMUST00000081125

SMART Domains

Protein: ENSMUSP00000079900
Gene: ENSMUSG00000010505

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 benign
Transcript: ENSMUST00000108756

SMART Domains

Protein: ENSMUSP00000104387
Gene: ENSMUSG00000010505

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 benign
Transcript: ENSMUST00000108757

SMART Domains

Protein: ENSMUSP00000104388
Gene: ENSMUSG00000010505

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

probably benign
Transcript: ENSMUST00000129843

SMART Domains

Protein: ENSMUSP00000115697
Gene: ENSMUSG00000010505

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

probably benign
Transcript: ENSMUST00000129856

SMART Domains

Protein: ENSMUSP00000122011
Gene: ENSMUSG00000010505

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

noncoding transcript
Transcript: ENSMUST00000156190

Predicted Effect

probably benign
Transcript: ENSMUST00000183403

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (91/93)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,000,931 (GRCm39)	L41P	probably damaging	Het
A930003A15Rik	T	C	16: 19,702,622 (GRCm39)		noncoding transcript	Het
Abca8a	A	T	11: 109,931,390 (GRCm39)	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,376,323 (GRCm39)	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,237,135 (GRCm39)	D92G	possibly damaging	Het
Aebp2	T	G	6: 140,588,090 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,026,283 (GRCm39)	Y6C	probably damaging	Het
Ascc3	T	C	10: 50,721,762 (GRCm39)	W2072R	probably benign	Het
Asxl3	A	G	18: 22,649,097 (GRCm39)	D362G	probably damaging	Het
Baiap2l1	T	A	5: 144,203,451 (GRCm39)	D479V	probably benign	Het
Bdp1	A	T	13: 100,172,333 (GRCm39)	H2094Q	probably benign	Het
Bptf	C	A	11: 107,001,638 (GRCm39)		probably null	Het
Camk4	G	T	18: 33,072,507 (GRCm39)	S20I	unknown	Het
Ccdc85a	T	A	11: 28,533,296 (GRCm39)	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,730,131 (GRCm39)	M336K	probably benign	Het
Cd209e	G	T	8: 3,903,205 (GRCm39)	D62E	probably benign	Het
Cd226	A	C	18: 89,225,144 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,768,784 (GRCm39)	D605G	probably benign	Het
Crtc1	A	G	8: 70,845,663 (GRCm39)	V306A	probably benign	Het
D130043K22Rik	G	A	13: 25,047,563 (GRCm39)		probably benign	Het
Dmxl1	T	C	18: 49,966,215 (GRCm39)	V20A	probably damaging	Het
Dzip3	A	G	16: 48,780,038 (GRCm39)	Y301H	probably damaging	Het
Ephb4	T	A	5: 137,363,929 (GRCm39)	N600K	probably damaging	Het
Erich6	T	A	3: 58,543,543 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,156,734 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,246,424 (GRCm39)		probably benign	Het
Galnt17	T	A	5: 131,179,754 (GRCm39)	D131V	probably damaging	Het
Gm6619	T	A	6: 131,467,297 (GRCm39)	L54Q	probably damaging	Het
Herc2	T	C	7: 55,855,784 (GRCm39)		probably benign	Het
Hic1	T	A	11: 75,056,627 (GRCm39)	Q754L	possibly damaging	Het
Hnf4g	A	T	3: 3,716,689 (GRCm39)	D286V	possibly damaging	Het
Iho1	A	T	9: 108,282,000 (GRCm39)	C563S	probably benign	Het
Itgb5	A	G	16: 33,720,953 (GRCm39)	K339R	probably damaging	Het
Itih1	A	T	14: 30,663,512 (GRCm39)	V164E	probably damaging	Het
Jak3	A	C	8: 72,136,622 (GRCm39)	N643T	probably damaging	Het
Lamp1	T	A	8: 13,222,654 (GRCm39)	F279L	probably damaging	Het
Lrfn5	A	C	12: 61,886,454 (GRCm39)	T81P	probably damaging	Het
Lrrc58	A	G	16: 37,698,935 (GRCm39)		probably benign	Het
Marchf6	T	C	15: 31,480,437 (GRCm39)	Y562C	probably benign	Het
Mark1	T	A	1: 184,653,805 (GRCm39)	I166F	probably damaging	Het
Mark2	A	G	19: 7,263,189 (GRCm39)	Y193H	probably damaging	Het
Mast4	C	G	13: 102,873,895 (GRCm39)	Q1632H	probably damaging	Het
Mcrs1	T	C	15: 99,141,330 (GRCm39)		probably benign	Het
Mgst3	A	G	1: 167,201,374 (GRCm39)	Y104H	probably damaging	Het
Mlxipl	C	T	5: 135,161,329 (GRCm39)	T416I	possibly damaging	Het
Mthfd2l	T	C	5: 91,094,801 (GRCm39)	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,540,974 (GRCm39)	I312F	probably benign	Het
Muc1	C	A	3: 89,137,635 (GRCm39)	P159Q	possibly damaging	Het
Myom2	A	T	8: 15,182,924 (GRCm39)	K1454*	probably null	Het
Or10g3b	T	C	14: 52,586,835 (GRCm39)	I223V	probably benign	Het
Or2t29	T	A	11: 58,433,988 (GRCm39)	M105L	possibly damaging	Het
Or52ae9	T	C	7: 103,390,132 (GRCm39)	H105R	probably damaging	Het
Or56b1b	T	C	7: 108,164,205 (GRCm39)	T266A	possibly damaging	Het
Or8b1c	A	T	9: 38,384,081 (GRCm39)	I13F	probably benign	Het
Pdcd6	A	G	13: 74,464,443 (GRCm39)		probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Pramel23	A	T	4: 143,425,056 (GRCm39)	M129K	probably benign	Het
Pzp	A	G	6: 128,493,158 (GRCm39)		probably benign	Het
Rab27b	T	C	18: 70,120,112 (GRCm39)		probably benign	Het
Rapgef3	G	A	15: 97,659,466 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,867,153 (GRCm39)	Y152H	probably damaging	Het
Rgs11	T	A	17: 26,422,292 (GRCm39)	M29K	probably damaging	Het
Rictor	A	G	15: 6,793,759 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rims1	T	C	1: 22,497,709 (GRCm39)		probably null	Het
Samd9l	T	C	6: 3,372,725 (GRCm39)	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,427,050 (GRCm39)	A127T	probably benign	Het
Slc22a28	T	C	19: 8,094,197 (GRCm39)	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,745,300 (GRCm39)	H78L	probably benign	Het
Slc26a1	T	A	5: 108,821,389 (GRCm39)	T167S	probably benign	Het
Slc2a12	T	C	10: 22,577,915 (GRCm39)		probably benign	Het
Slc44a5	T	C	3: 153,971,111 (GRCm39)	S654P	probably damaging	Het
Slc51a	T	A	16: 32,294,667 (GRCm39)	T306S	probably benign	Het
Slc6a13	T	G	6: 121,279,826 (GRCm39)	W67G	probably damaging	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,059,313 (GRCm39)		probably benign	Het
Sp100	A	T	1: 85,627,465 (GRCm39)	I86L	probably damaging	Het
Spata31e5	A	G	1: 28,816,902 (GRCm39)	S377P	possibly damaging	Het
Supt20	T	A	3: 54,622,122 (GRCm39)	Y409N	probably damaging	Het
Synrg	C	T	11: 83,915,131 (GRCm39)	Q1046*	probably null	Het
Tab2	T	C	10: 7,783,345 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,978,904 (GRCm39)	D48G	probably damaging	Het
Tex24	A	T	8: 27,834,748 (GRCm39)	H92L	possibly damaging	Het
Tgm6	T	C	2: 129,993,681 (GRCm39)	V640A	probably benign	Het
Tle2	T	C	10: 81,424,781 (GRCm39)	F667L	probably damaging	Het
Tnfaip3	C	A	10: 18,878,697 (GRCm39)	A704S	probably benign	Het
Tomm34	T	C	2: 163,912,896 (GRCm39)	N22D	probably benign	Het
Trabd2b	A	G	4: 114,437,519 (GRCm39)	Q232R	probably benign	Het
Trim62	A	G	4: 128,778,008 (GRCm39)	S16G	probably damaging	Het
Ttc28	T	A	5: 111,378,947 (GRCm39)	I1144N	probably damaging	Het
Unc5a	C	A	13: 55,151,746 (GRCm39)	N56K	possibly damaging	Het
Ush2a	C	T	1: 188,546,603 (GRCm39)		probably benign	Het
Wrn	A	G	8: 33,785,034 (GRCm39)	I446T	possibly damaging	Het
Zbed5	T	A	5: 129,931,113 (GRCm39)	V354E	possibly damaging	Het
Zfp266	G	A	9: 20,411,095 (GRCm39)	H361Y	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTGAGCCCCACTGTTGTTCATC -3'
(R):5'- CTTGTCATCATCAGAGCGAACCTCC -3'

Sequencing Primer
(F):5'- GGTGAAAAGGACCTCTTTATACAGC -3'
(R):5'- CTCAGGTTTAGGACTAGATAGCTC -3'

Posted On

2013-09-30