Mutagenetix > Incidental Mutations

Incidental Mutation 'R5194:Myt1l'

399996

Institutional Source

Beutler Lab

Gene Symbol

Myt1l

Ensembl Gene

ENSMUSG00000061911

Gene Name

myelin transcription factor 1-like

Synonyms

C630034G21Rik, Nztf1, 2900046C06Rik, 2900093J19Rik, Png-1, Pmng1

MMRRC Submission

042770-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5194 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29528384-29923213 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 29811648 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 143 (D143A)

Ref Sequence

ENSEMBL: ENSMUSP00000151588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021009] [ENSMUST00000049784] [ENSMUST00000218583]

Predicted Effect

unknown
Transcript: ENSMUST00000021009
AA Change: D143A

SMART Domains

Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: D143A

Domain	Start	End	E-Value	Type
Pfam:zf-C2HC	28	58	8.3e-19	PFAM
coiled coil region	148	182	N/A	INTRINSIC
low complexity region	188	200	N/A	INTRINSIC
low complexity region	222	233	N/A	INTRINSIC
Pfam:zf-C2HC	502	532	1.1e-16	PFAM
Pfam:zf-C2HC	546	576	4e-18	PFAM
Pfam:MYT1	620	872	2.7e-135	PFAM
Pfam:zf-C2HC	901	931	8.4e-20	PFAM
Pfam:zf-C2HC	950	980	1.2e-18	PFAM
Pfam:zf-C2HC	1003	1033	1.1e-17	PFAM
coiled coil region	1055	1130	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000049784
AA Change: D143A

SMART Domains

Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: D143A

Domain	Start	End	E-Value	Type
Pfam:zf-C2HC	30	58	5.1e-18	PFAM
coiled coil region	148	182	N/A	INTRINSIC
low complexity region	188	200	N/A	INTRINSIC
low complexity region	222	233	N/A	INTRINSIC
Pfam:zf-C2HC	506	533	9.9e-15	PFAM
Pfam:zf-C2HC	550	578	2.4e-16	PFAM
Pfam:MYT1	622	873	2.7e-122	PFAM
Pfam:zf-C2HC	905	933	6.3e-19	PFAM
Pfam:zf-C2HC	954	982	1.6e-18	PFAM
Pfam:zf-C2HC	1007	1035	1.4e-16	PFAM
coiled coil region	1057	1132	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000218583
AA Change: D143A

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the zinc finger superfamily of transcription factors. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. Mutations in this gene have been associated with autosomal mental retardation-39 and autism spectrum disorder. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,037,250	N82D	probably benign	Het
Acadm	C	T	3: 153,933,118	R206H	possibly damaging	Het
Acly	T	A	11: 100,523,546	Y18F	probably benign	Het
Acnat2	G	T	4: 49,380,452	Q291K	probably benign	Het
Agtpbp1	T	C	13: 59,500,639	I456V	probably benign	Het
Ankrd7	A	G	6: 18,868,077	N114S	possibly damaging	Het
Arfgef1	A	T	1: 10,204,907	L307I	probably benign	Het
Arhgef2	A	T	3: 88,635,649	I383F	probably damaging	Het
Cbs	C	T	17: 31,624,224		probably null	Het
Cep135	T	C	5: 76,615,777	V538A	probably benign	Het
D11Wsu47e	T	C	11: 113,688,828	S350P	possibly damaging	Het
Dennd5a	T	C	7: 109,933,729	E254G	probably damaging	Het
Drc7	T	C	8: 95,061,717	V236A	probably benign	Het
Dtna	C	T	18: 23,590,245	Q169*	probably null	Het
Egfem1	G	A	3: 29,357,196		probably null	Het
Eif2ak3	T	C	6: 70,858,478	S130P	possibly damaging	Het
Ewsr1	T	C	11: 5,082,355	N297S	unknown	Het
F13a1	T	G	13: 36,972,063	D192A	probably damaging	Het
Fam120a	A	G	13: 48,880,935	V1067A	probably benign	Het
Gm13124	A	G	4: 144,555,082	V380A	probably benign	Het
Gm17490	T	C	2: 11,626,251	Y5C	unknown	Het
Gm8587	C	T	12: 88,089,786		noncoding transcript	Het
H2-Ab1	C	T	17: 34,269,378		probably benign	Het
Hoxd12	T	C	2: 74,675,103	L6P	probably damaging	Het
Ifi204	C	T	1: 173,749,344	D564N	possibly damaging	Het
Irak2	T	C	6: 113,690,790	V444A	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lrba	A	C	3: 86,328,219	N877H	probably damaging	Het
Mylk3	T	C	8: 85,352,866	I388V	probably benign	Het
Myo9b	C	T	8: 71,349,089	A1286V	probably benign	Het
Ngfr	T	C	11: 95,580,982	N63S	probably benign	Het
Olfr1264	T	A	2: 90,021,526	Y180F	probably damaging	Het
Olfr1347	A	G	7: 6,488,520	L118P	probably damaging	Het
Olfr576	A	G	7: 102,965,864	I255V	probably benign	Het
Olfr698	A	T	7: 106,753,219	H56Q	probably benign	Het
Olfr814	C	T	10: 129,874,098	V220I	probably benign	Het
P2rx7	T	C	5: 122,673,795	S390P	probably benign	Het
Pcdhga4	A	C	18: 37,687,741	Q781P	probably benign	Het
Phip	G	A	9: 82,908,862	S677F	probably benign	Het
Ptpdc1	C	A	13: 48,586,789	V389F	possibly damaging	Het
Rab2a	T	A	4: 8,604,381	I161N	probably benign	Het
Rnf113a2	T	A	12: 84,417,337	M1K	probably null	Het
Schip1	T	C	3: 68,494,872	V122A	probably benign	Het
Sdr16c5	C	A	4: 4,006,663	A210S	probably benign	Het
Sh3bp1	A	G	15: 78,903,101	K83E	probably damaging	Het
Sipa1l2	T	C	8: 125,439,273	S1541G	possibly damaging	Het
Slc22a21	T	C	11: 53,979,847	Y4C	probably damaging	Het
Smco1	C	T	16: 32,273,774	H88Y	probably damaging	Het
Tll2	T	C	19: 41,095,897	D697G	probably damaging	Het
Trim34a	A	G	7: 104,260,993	N334S	possibly damaging	Het
Ubqln1	A	G	13: 58,199,033	I64T	probably benign	Het
Vstm2b	T	A	7: 40,902,488		probably null	Het
Wdr17	A	G	8: 54,687,604	F238L	probably damaging	Het
Wiz	T	C	17: 32,377,848		probably benign	Het
Zfp407	T	C	18: 84,561,309	S560G	probably benign	Het

Other mutations in Myt1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Myt1l	APN	12	29827424	missense	unknown
IGL00896:Myt1l	APN	12	29826886	missense	unknown
IGL01653:Myt1l	APN	12	29910771	missense	unknown
IGL02632:Myt1l	APN	12	29914293	missense	unknown
IGL03088:Myt1l	APN	12	29920477	missense	probably benign	0.03
IGL03212:Myt1l	APN	12	29827820	missense	unknown
BB003:Myt1l	UTSW	12	29811652	missense	unknown
BB013:Myt1l	UTSW	12	29811652	missense	unknown
R0057:Myt1l	UTSW	12	29842612	splice site	probably null
R0126:Myt1l	UTSW	12	29851720	missense	possibly damaging	0.91
R0356:Myt1l	UTSW	12	29811501	missense	unknown
R0538:Myt1l	UTSW	12	29842571	missense	possibly damaging	0.47
R0587:Myt1l	UTSW	12	29811635	missense	unknown
R0629:Myt1l	UTSW	12	29811485	missense	unknown
R0709:Myt1l	UTSW	12	29827733	missense	unknown
R0736:Myt1l	UTSW	12	29827814	missense	unknown
R0920:Myt1l	UTSW	12	29886139	missense	unknown
R1618:Myt1l	UTSW	12	29827397	missense	unknown
R1660:Myt1l	UTSW	12	29895273	missense	unknown
R1716:Myt1l	UTSW	12	29811538	missense	unknown
R1758:Myt1l	UTSW	12	29827242	missense	unknown
R1852:Myt1l	UTSW	12	29851661	missense	probably benign	0.27
R1971:Myt1l	UTSW	12	29827092	missense	unknown
R2120:Myt1l	UTSW	12	29783619	critical splice acceptor site	probably null
R2227:Myt1l	UTSW	12	29826970	missense	unknown
R2865:Myt1l	UTSW	12	29910789	missense	probably benign	0.00
R4587:Myt1l	UTSW	12	29910801	missense	unknown
R4603:Myt1l	UTSW	12	29842540	missense	probably benign	0.01
R4659:Myt1l	UTSW	12	29849457	missense	probably damaging	0.98
R4734:Myt1l	UTSW	12	29919926	missense	possibly damaging	0.90
R4786:Myt1l	UTSW	12	29811458	missense	unknown
R4824:Myt1l	UTSW	12	29849400	missense	probably benign	0.02
R4835:Myt1l	UTSW	12	29895305	missense	unknown
R4888:Myt1l	UTSW	12	29886139	missense	unknown
R4976:Myt1l	UTSW	12	29832303	missense	unknown
R4980:Myt1l	UTSW	12	29827039	missense	unknown
R5119:Myt1l	UTSW	12	29832303	missense	unknown
R5247:Myt1l	UTSW	12	29832332	missense	unknown
R5249:Myt1l	UTSW	12	29832332	missense	unknown
R5427:Myt1l	UTSW	12	29832332	missense	unknown
R5428:Myt1l	UTSW	12	29832332	missense	unknown
R5429:Myt1l	UTSW	12	29832332	missense	unknown
R5431:Myt1l	UTSW	12	29832332	missense	unknown
R5628:Myt1l	UTSW	12	29811621	missense	unknown
R5926:Myt1l	UTSW	12	29832332	missense	unknown
R5959:Myt1l	UTSW	12	29920040	critical splice donor site	probably null
R6082:Myt1l	UTSW	12	29832332	missense	unknown
R6082:Myt1l	UTSW	12	29842519	missense	probably damaging	1.00
R6084:Myt1l	UTSW	12	29832332	missense	unknown
R6086:Myt1l	UTSW	12	29832332	missense	unknown
R6145:Myt1l	UTSW	12	29832381	missense	unknown
R6293:Myt1l	UTSW	12	29827628	missense	unknown
R6315:Myt1l	UTSW	12	29827798	missense	unknown
R6458:Myt1l	UTSW	12	29895299	missense	unknown
R6490:Myt1l	UTSW	12	29832366	missense	unknown
R6758:Myt1l	UTSW	12	29842600	missense	possibly damaging	0.94
R7230:Myt1l	UTSW	12	29783874	missense	probably damaging	0.99
R7330:Myt1l	UTSW	12	29851554	missense	unknown
R7545:Myt1l	UTSW	12	29827088	missense	unknown
R7662:Myt1l	UTSW	12	29826869	missense	unknown
R7744:Myt1l	UTSW	12	29827549	missense	unknown
R7926:Myt1l	UTSW	12	29811652	missense	unknown
U24488:Myt1l	UTSW	12	29826896	missense	unknown
Z1177:Myt1l	UTSW	12	29811431	missense	probably damaging	1.00
Z1177:Myt1l	UTSW	12	29842468	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTCCCAAGCGAAAACCATTTG -3'
(R):5'- CTGGAATTGTTAGGATGCCACGG -3'

Sequencing Primer
(F):5'- GCAGATAGTTCCTCAGTAGACG -3'
(R):5'- TGTTAGGATGCCACGGATAATAACAC -3'

Posted On

2016-07-06