Mutagenetix > Incidental Mutation

Incidental Mutation 'R1471:Myt1'

164860

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

039524-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1471 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

181763332-181827797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181797111 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 142 (D142G)

Ref Sequence

ENSEMBL: ENSMUSP00000104388 (fasta)

Gene Model

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

AlphaFold

Q8CFC2

Predicted Effect

probably benign
Transcript: ENSMUST00000081125
AA Change: D184G

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

SMART Domains

Protein: ENSMUSP00000079900
Gene: ENSMUSG00000010505
AA Change: D184G

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
AA Change: D142G

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

SMART Domains

Protein: ENSMUSP00000104387
Gene: ENSMUSG00000010505
AA Change: D142G

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
AA Change: D142G

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

SMART Domains

Protein: ENSMUSP00000104388
Gene: ENSMUSG00000010505
AA Change: D142G

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: 98.6%
10x: 96.8%
20x: 94.4%

Validation Efficiency

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
0610010F05Rik	A	T	11: 23,615,222	M255K	probably damaging	Het
4930486L24Rik	C	A	13: 60,853,522	K130N	probably damaging	Het
Adam6a	T	A	12: 113,544,393	S129T	probably damaging	Het
Adamts10	T	A	17: 33,553,138	F1087I	probably damaging	Het
Afp	T	A	5: 90,503,682	N385K	possibly damaging	Het
Ahnak	T	G	19: 9,012,932		probably benign	Het
Akap6	A	G	12: 53,141,496	T1898A	probably benign	Het
Antxr2	C	A	5: 97,975,340	V283F	possibly damaging	Het
Asgr1	T	C	11: 70,056,093	V55A	possibly damaging	Het
Asxl3	A	G	18: 22,516,354	K467E	probably damaging	Het
Atp5a1	C	A	18: 77,781,269	Q398K	probably damaging	Het
Atxn2	T	A	5: 121,786,374	D455E	probably damaging	Het
B4galt6	C	T	18: 20,745,353	A39T	possibly damaging	Het
C130073F10Rik	C	T	4: 101,890,338	E165K	probably benign	Het
Cabin1	A	G	10: 75,694,792	C1519R	probably damaging	Het
Casp8ap2	C	T	4: 32,639,386	R147*	probably null	Het
Ccdc88b	A	G	19: 6,854,023	L517P	probably benign	Het
Cd109	G	A	9: 78,654,587	V220I	probably damaging	Het
Cd2ap	T	C	17: 42,820,597	K369R	probably benign	Het
Cd300c	A	G	11: 114,959,788	V63A	probably benign	Het
Cnot10	A	G	9: 114,591,551	V741A	probably benign	Het
Col18a1	G	T	10: 77,096,206	Q350K	unknown	Het
Crnkl1	T	C	2: 145,932,316	K76E	possibly damaging	Het
Cryzl2	A	G	1: 157,470,721	K227E	probably benign	Het
Cts6	G	A	13: 61,196,380	T286I	probably benign	Het
Cul1	T	C	6: 47,514,886	V392A	probably damaging	Het
Dcaf7	T	A	11: 106,046,747	F65L	probably benign	Het
Dgke	A	C	11: 89,055,494	V160G	possibly damaging	Het
Dock8	C	A	19: 25,201,036	Q2098K	possibly damaging	Het
Efhb	T	A	17: 53,399,112	D799V	possibly damaging	Het
Ephb2	T	C	4: 136,658,951	D829G	probably benign	Het
Exosc1	A	T	19: 41,924,718	S117R	probably damaging	Het
Fga	T	C	3: 83,028,618	S51P	probably benign	Het
Fmn1	T	C	2: 113,693,094	F1141L	possibly damaging	Het
Foxm1	C	T	6: 128,373,874	L713F	probably damaging	Het
Galnt4	A	G	10: 99,108,674	E87G	probably benign	Het
Gamt	T	C	10: 80,260,858	D15G	probably benign	Het
Gm13101	T	C	4: 143,964,953	N400S	probably benign	Het
Gm15557	C	A	2: 155,942,254	D154E	possibly damaging	Het
Gnptab	A	G	10: 88,445,763	I1211V	probably benign	Het
Greb1	A	T	12: 16,711,774	M535K	probably damaging	Het
Grm8	C	A	6: 27,363,309	A736S	possibly damaging	Het
Hspa14	T	C	2: 3,491,608	I373M	probably benign	Het
Ifi207	T	A	1: 173,730,063	T370S	unknown	Het
Igf1r	A	G	7: 68,003,837	N41S	probably damaging	Het
Ikzf5	A	T	7: 131,391,767	V224D	probably damaging	Het
Il10	C	A	1: 131,021,373	Y90*	probably null	Het
Itga4	A	G	2: 79,287,032	D394G	probably benign	Het
Kif21a	A	T	15: 90,956,419	S1165T	probably benign	Het
Krtap14	A	G	16: 88,825,627	S155P	probably damaging	Het
Loxl2	A	G	14: 69,693,097	N770S	probably benign	Het
Man2b1	A	G	8: 85,086,845	D222G	probably damaging	Het
Mcub	T	A	3: 129,915,815	Y283F	probably damaging	Het
Meis3	T	A	7: 16,177,571	Y64*	probably null	Het
Mfsd6	T	A	1: 52,709,557	I50F	probably benign	Het
Micu2	T	C	14: 57,945,397	T165A	probably damaging	Het
Mtcl1	T	C	17: 66,379,148	E921G	probably damaging	Het
Muc5b	A	T	7: 141,843,234	N215Y	unknown	Het
Muc6	A	G	7: 141,647,909	F772L	possibly damaging	Het
Nol6	C	T	4: 41,120,281	V479I	probably benign	Het
Nsun7	A	G	5: 66,284,229	K414E	probably benign	Het
Nup210l	A	C	3: 90,170,562	I914L	probably benign	Het
Obox3	G	A	7: 15,626,950	P88L	probably benign	Het
Olfr1098	C	T	2: 86,922,578		probably null	Het
Olfr1122	A	G	2: 87,388,518	Y271C	probably damaging	Het
Olfr1132	T	C	2: 87,635,670	T26A	probably benign	Het
Olfr1289	T	C	2: 111,484,006	L192P	probably damaging	Het
Pclo	T	C	5: 14,680,427		probably benign	Het
Pcsk5	T	C	19: 17,568,324	N745D	probably damaging	Het
Pdzrn3	T	A	6: 101,151,512	N731I	possibly damaging	Het
Pkdrej	T	A	15: 85,817,133	Q1534L	probably benign	Het
Rell1	T	A	5: 63,936,085	D109V	probably damaging	Het
Rplp0	C	T	5: 115,563,344	T285I	probably damaging	Het
Sema3g	C	T	14: 31,228,045	R728C	probably damaging	Het
Slc15a2	A	G	16: 36,753,791	Y536H	probably damaging	Het
Slc26a5	T	A	5: 21,816,964	Y488F	probably benign	Het
Slc5a4a	A	T	10: 76,186,528	S566C	probably damaging	Het
Spink7	C	T	18: 62,596,204	E21K	possibly damaging	Het
Src	C	T	2: 157,457,187	Q35*	probably null	Het
Srrm2	T	A	17: 23,820,796	V2234E	probably damaging	Het
Stk36	A	T	1: 74,611,155	Q282L	probably benign	Het
Tas2r118	T	G	6: 23,969,171	E297A	probably damaging	Het
Terf1	A	G	1: 15,842,970	Y385C	probably damaging	Het
Tmc3	T	C	7: 83,598,290	S198P	probably damaging	Het
Tmprss11b	C	T	5: 86,660,496	R407H	possibly damaging	Het
Tspyl4	G	A	10: 34,298,111	E200K	probably damaging	Het
Ttc21a	T	C	9: 119,942,641	Y169H	probably damaging	Het
Ugt2b36	C	T	5: 87,092,071	D152N	probably damaging	Het
Unk	T	C	11: 116,049,409	I196T	probably benign	Het
Uroc1	T	G	6: 90,344,171	V243G	probably damaging	Het
Usp34	C	A	11: 23,488,862	Q3475K	probably benign	Het
Vmn2r117	T	A	17: 23,478,473	I82L	probably benign	Het
Vmn2r44	A	T	7: 8,377,883	V337E	probably damaging	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp362	T	C	4: 128,787,200	T111A	probably benign	Het
Zfp598	T	C	17: 24,680,072	V615A	probably benign	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
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
R2140:Myt1	UTSW	2	181825979	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'- TTGAATCCAGGCAGAAGGCTGAC -3'
(R):5'- ACGTTCACTTGTGACTTCAATGACCTC -3'

Sequencing Primer
(F):5'- CTGACAGGATGGCTTACAGTTC -3'
(R):5'- CATCTTCTGGCTGTATAAAGAGGTCC -3'

Posted On

2014-03-28