Mutagenetix > Incidental Mutation

Incidental Mutation 'R2140:Myt1'

236115

Institutional Source

Beutler Lab

Gene Symbol

Myt1

Ensembl Gene

ENSMUSG00000010505

Gene Name

myelin transcription factor 1

Synonyms

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

MMRRC Submission

040143-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2140 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

181763332-181827797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 181825979 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1069 (Q1069K)

Ref Sequence

ENSEMBL: ENSMUSP00000104388 (fasta)

Gene Model

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

AlphaFold

Q8CFC2

Predicted Effect

probably damaging
Transcript: ENSMUST00000081125
AA Change: Q1149K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079900
Gene: ENSMUSG00000010505
AA Change: Q1149K

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: Q1107K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104387
Gene: ENSMUSG00000010505
AA Change: Q1107K

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: Q1069K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104388
Gene: ENSMUSG00000010505
AA Change: Q1069K

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: Q766K

SMART Domains

Protein: ENSMUSP00000115697
Gene: ENSMUSG00000010505
AA Change: Q766K

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

noncoding transcript
Transcript: ENSMUST00000130079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148766

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (96/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	T	C	14: 4,348,902	I21T	probably damaging	Het
9230110C19Rik	T	C	9: 8,022,477	D248G	probably damaging	Het
Adgrf1	A	C	17: 43,300,802	E186D	probably damaging	Het
Adgrf4	C	T	17: 42,666,898	R518Q	possibly damaging	Het
Afdn	A	G	17: 13,810,433	E202G	probably damaging	Het
Agfg2	T	A	5: 137,667,116	R126W	probably damaging	Het
Alkbh2	C	T	5: 114,125,716	V77I	probably benign	Het
Alppl2	A	G	1: 87,087,697	S381P	probably benign	Het
Aqp2	A	G	15: 99,579,366	T72A	probably damaging	Het
Atp9b	A	G	18: 80,736,087	C1123R	probably damaging	Het
AU016765	T	A	17: 64,520,000		noncoding transcript	Het
Bscl2	T	C	19: 8,845,320		probably null	Het
Ccdc80	A	T	16: 45,127,446	Y929F	probably damaging	Het
Cenpj	T	C	14: 56,526,932	D1341G	probably damaging	Het
Cir1	A	T	2: 73,312,437	S18T	probably damaging	Het
Clcn6	A	G	4: 148,024,137	F145S	possibly damaging	Het
Cnksr1	A	G	4: 134,229,628	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Crb1	T	C	1: 139,237,012	I1125V	probably benign	Het
Cyp3a13	A	T	5: 137,921,454	V20D	possibly damaging	Het
Dars	T	A	1: 128,372,162	M362L	probably benign	Het
Dck	T	C	5: 88,772,723	C101R	probably damaging	Het
Dnah11	T	C	12: 118,008,810	T2880A	probably benign	Het
Dnah7b	T	A	1: 46,268,670	M3048K	probably damaging	Het
Eef1a2	C	T	2: 181,148,742	E374K	probably benign	Het
Eif3a	A	T	19: 60,775,394		probably benign	Het
Esco1	A	G	18: 10,574,873		probably null	Het
Exoc8	C	T	8: 124,897,415	R71Q	possibly damaging	Het
Fam208a	C	T	14: 27,480,035	T1462I	probably damaging	Het
Far1	G	A	7: 113,566,460	V445M	possibly damaging	Het
Fbn1	C	A	2: 125,343,810	C1648F	probably damaging	Het
Fmn1	A	G	2: 113,595,048	K1189R	probably benign	Het
Foxl2	C	A	9: 98,956,487	P276H	unknown	Het
Fpr3	T	A	17: 17,970,617	V50E	probably damaging	Het
Garem1	T	A	18: 21,129,374	R794S	probably damaging	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Glyatl3	T	C	17: 40,911,084	D93G	probably benign	Het
Gm14124	A	T	2: 150,269,361	H657L	probably benign	Het
Gm4787	A	G	12: 81,378,562	I274T	probably benign	Het
Gucy1a1	C	T	3: 82,118,886		probably null	Het
Hook1	GATGAATGA	GATGA	4: 96,013,312	503	probably null	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Ints13	A	G	6: 146,576,431	S7P	probably damaging	Het
Kat5	T	A	19: 5,605,685		probably null	Het
Kcnma1	A	C	14: 23,314,220	L988R	probably damaging	Het
Kcnq3	C	A	15: 66,005,978		probably benign	Het
Kctd16	A	G	18: 40,259,178	E273G	possibly damaging	Het
Krt82	T	A	15: 101,545,156	Q265L	probably damaging	Het
Lama2	A	T	10: 27,054,694		probably null	Het
Laptm4b	G	T	15: 34,238,332	M3I	probably benign	Het
Lmtk2	A	G	5: 144,147,615	Y156C	probably damaging	Het
Lrrc58	G	A	16: 37,881,409	E350K	probably damaging	Het
Lrrk1	A	T	7: 66,330,750	D227E	probably damaging	Het
Macf1	C	T	4: 123,355,102	C7210Y	probably damaging	Het
Madd	A	G	2: 91,152,509	I1363T	possibly damaging	Het
Mcm3	A	G	1: 20,813,110	V295A	probably benign	Het
Mki67	A	G	7: 135,695,592	I2571T	possibly damaging	Het
Mtrr	C	T	13: 68,568,940	A385T	possibly damaging	Het
Myh7b	A	G	2: 155,620,123	Y313C	probably damaging	Het
Myot	A	T	18: 44,354,125	H343L	possibly damaging	Het
Nid1	T	A	13: 13,499,668	D877E	probably damaging	Het
Nle1	A	G	11: 82,905,568	V159A	probably damaging	Het
Nmbr	C	A	10: 14,770,442	Y353*	probably null	Het
Nos1ap	T	A	1: 170,329,166	D241V	probably damaging	Het
Nostrin	A	C	2: 69,166,003	Y209S	probably damaging	Het
Olfr1099	A	T	2: 86,959,281	M59K	probably damaging	Het
Olfr115	T	G	17: 37,610,471	E93D	probably benign	Het
Olfr1168	A	T	2: 88,185,095	S73C	probably benign	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr283	G	A	15: 98,378,396	T238I	possibly damaging	Het
Olfr378	A	T	11: 73,425,881	M34K	probably damaging	Het
Pcdh7	T	A	5: 58,128,996	V1138E	probably damaging	Het
Pglyrp3	T	G	3: 92,026,567	V173G	probably benign	Het
Plec	T	C	15: 76,183,174	T1331A	probably benign	Het
Plxnb2	T	C	15: 89,156,562	D1787G	probably benign	Het
Pms1	T	A	1: 53,281,988	I29F	probably damaging	Het
Ptprt	G	A	2: 161,811,988	T574I	probably damaging	Het
R3hdm1	A	G	1: 128,190,693	Y561C	probably damaging	Het
Rab17	A	G	1: 90,960,078	F120S	probably benign	Het
Rab7b	T	A	1: 131,698,419	W62R	probably damaging	Het
Ryr2	C	T	13: 11,560,607	G4835E	probably damaging	Het
Ryr3	A	G	2: 112,875,148	V807A	probably benign	Het
Sept4	A	T	11: 87,583,436	Q60L	probably benign	Het
Slc23a1	C	T	18: 35,626,434	R26Q	unknown	Het
Slc7a4	C	A	16: 17,574,544	R342L	possibly damaging	Het
Slfn9	C	T	11: 82,984,655	C367Y	possibly damaging	Het
Slitrk6	T	G	14: 110,750,794	T494P	probably benign	Het
Tiam1	A	G	16: 89,849,645		probably benign	Het
Tiparp	C	A	3: 65,529,252		probably benign	Het
Tmem39b	T	C	4: 129,678,688	T374A	probably benign	Het
Trim5	G	A	7: 104,276,791	R188*	probably null	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Ubr4	C	T	4: 139,477,207	T4810M	probably damaging	Het
Vmn2r26	A	T	6: 124,061,237	E590D	probably benign	Het
Wwc1	A	G	11: 35,870,528	F650S	probably benign	Het
Xrcc6	T	A	15: 82,022,977	F167I	probably damaging	Het

Other mutations in Myt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00478:Myt1	APN	2	181801115	missense	probably damaging	1.00
IGL00816:Myt1	APN	2	181807515	missense	probably damaging	0.97
IGL01062:Myt1	APN	2	181797729	missense	probably damaging	1.00
IGL01069:Myt1	APN	2	181825956	missense	probably damaging	1.00
IGL01292:Myt1	APN	2	181805012	missense	probably damaging	1.00
IGL01521:Myt1	APN	2	181825911	missense	probably damaging	1.00
IGL01926:Myt1	APN	2	181821997	missense	probably benign	0.00
IGL01976:Myt1	APN	2	181795739	missense	probably damaging	1.00
IGL02066:Myt1	APN	2	181797189	missense	probably damaging	1.00
IGL02109:Myt1	APN	2	181815617	splice site	probably benign
IGL02209:Myt1	APN	2	181797234	missense	probably benign	0.06
IGL02499:Myt1	APN	2	181825549	splice site	probably benign
IGL03064:Myt1	APN	2	181797801	missense	probably benign	0.31
IGL03394:Myt1	APN	2	181797845	missense	probably damaging	1.00
PIT4366001:Myt1	UTSW	2	181825938	missense	probably damaging	1.00
R0003:Myt1	UTSW	2	181801871	missense	probably damaging	1.00
R0003:Myt1	UTSW	2	181801871	missense	probably damaging	1.00
R0362:Myt1	UTSW	2	181763393	unclassified	probably benign
R0627:Myt1	UTSW	2	181795689	missense	probably benign	0.10
R0650:Myt1	UTSW	2	181782615	nonsense	probably null
R0735:Myt1	UTSW	2	181807387	unclassified	probably benign
R0744:Myt1	UTSW	2	181797505	intron	probably benign
R1115:Myt1	UTSW	2	181811231	nonsense	probably null
R1460:Myt1	UTSW	2	181802932	missense	probably damaging	1.00
R1471:Myt1	UTSW	2	181797111	missense	probably benign
R1836:Myt1	UTSW	2	181797275	missense	probably benign
R1905:Myt1	UTSW	2	181797756	missense	probably damaging	1.00
R2007:Myt1	UTSW	2	181795759	missense	probably benign
R2040:Myt1	UTSW	2	181825924	missense	probably damaging	1.00
R2323:Myt1	UTSW	2	181806557	missense	probably damaging	1.00
R2926:Myt1	UTSW	2	181826010	missense	possibly damaging	0.93
R3895:Myt1	UTSW	2	181820070	missense	probably damaging	1.00
R4093:Myt1	UTSW	2	181811398	missense	probably damaging	1.00
R4649:Myt1	UTSW	2	181797414	missense	probably benign
R4693:Myt1	UTSW	2	181795739	missense	probably damaging	1.00
R4775:Myt1	UTSW	2	181822677	missense	probably damaging	1.00
R4835:Myt1	UTSW	2	181797462	missense	probably damaging	0.99
R5111:Myt1	UTSW	2	181795885	missense	probably benign	0.01
R5120:Myt1	UTSW	2	181797620	missense	probably benign	0.25
R5622:Myt1	UTSW	2	181797122	missense	probably benign
R6457:Myt1	UTSW	2	181763425	splice site	probably null
R6704:Myt1	UTSW	2	181811212	start codon destroyed	probably null
R6752:Myt1	UTSW	2	181801082	missense	probably damaging	1.00
R6944:Myt1	UTSW	2	181797594	missense	possibly damaging	0.52
R7337:Myt1	UTSW	2	181802963	missense	possibly damaging	0.71
R7362:Myt1	UTSW	2	181797240	missense	probably benign	0.00
R7368:Myt1	UTSW	2	181782591	missense	possibly damaging	0.53
R7385:Myt1	UTSW	2	181767705	splice site	probably null
R7411:Myt1	UTSW	2	181815106	missense	probably damaging	1.00
R7593:Myt1	UTSW	2	181797739	missense	possibly damaging	0.54
R7790:Myt1	UTSW	2	181797597	missense	probably benign	0.00
R8035:Myt1	UTSW	2	181795739	missense	probably damaging	1.00
R8156:Myt1	UTSW	2	181822761	critical splice donor site	probably null
R8338:Myt1	UTSW	2	181801862	missense	possibly damaging	0.94
R8419:Myt1	UTSW	2	181782606	nonsense	probably null
R8553:Myt1	UTSW	2	181797551	missense	possibly damaging	0.91
R9071:Myt1	UTSW	2	181806627	missense	possibly damaging	0.87
R9144:Myt1	UTSW	2	181826012	missense	possibly damaging	0.95
R9290:Myt1	UTSW	2	181795874	missense	probably benign	0.31
R9462:Myt1	UTSW	2	181825936	nonsense	probably null
R9502:Myt1	UTSW	2	181820198	missense	probably damaging	0.98
R9668:Myt1	UTSW	2	181810342	missense	probably damaging	1.00
R9700:Myt1	UTSW	2	181810384	missense	probably damaging	1.00
RF006:Myt1	UTSW	2	181797773	missense	probably damaging	1.00
Z1177:Myt1	UTSW	2	181797162	missense	probably damaging	0.97
Z1177:Myt1	UTSW	2	181807602	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTGACTGCTACTGTTGTCC -3'
(R):5'- GTCTTCATGCCTGGGCCTAATG -3'

Sequencing Primer
(F):5'- GACTGCTACTGTTGTCCTGTTGC -3'
(R):5'- GGACATCATAGGAGACACTGATTCC -3'

Posted On

2014-10-01