Mutagenetix > Incidental Mutations

Incidental Mutation 'R6758:Myt1l'

531112

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6758 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29528384-29923213 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 29842600 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 79 (Y79D)

Ref Sequence

ENSEMBL: ENSMUSP00000151919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021009] [ENSMUST00000049784] [ENSMUST00000218198] [ENSMUST00000218583]

Predicted Effect

unknown
Transcript: ENSMUST00000021009
AA Change: Y674D

SMART Domains

Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: Y674D

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: Y676D

SMART Domains

Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: Y676D

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

possibly damaging
Transcript: ENSMUST00000218198
AA Change: Y79D

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

unknown
Transcript: ENSMUST00000218583
AA Change: Y674D

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.9%

Validation Efficiency

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,588,475		probably null	Het
Ankrd17	A	T	5: 90,263,313	D1374E	probably damaging	Het
Cd96	C	A	16: 46,118,004	V33L	possibly damaging	Het
Drd1	T	C	13: 54,053,289	E295G	probably benign	Het
Fzd8	T	A	18: 9,213,238	C107S	possibly damaging	Het
Gm10801	C	CGTG	2: 98,663,807		probably null	Het
Gm11595	C	A	11: 99,772,540	V105L	unknown	Het
Gm11595	A	T	11: 99,772,541	C104*	probably null	Het
Igsf3	T	C	3: 101,425,498	Y31H	probably damaging	Het
Ikzf2	A	T	1: 69,538,900	H483Q	probably damaging	Het
Itgbl1	A	G	14: 123,857,489	K309E	probably benign	Het
Nid2	T	A	14: 19,802,483	S1086R	probably damaging	Het
Olfr107	A	G	17: 37,405,695	D49G	probably damaging	Het
Olfr192	T	C	16: 59,098,965	E9G	probably damaging	Het
Olfr808	T	C	10: 129,768,051	I185T	probably damaging	Het
Rorc	A	G	3: 94,387,518	N51S	possibly damaging	Het
Simc1	C	T	13: 54,525,548	P570S	possibly damaging	Het
Smn1	T	A	13: 100,132,438	M264K	possibly damaging	Het
Tiam2	A	G	17: 3,518,403	D1608G	probably benign	Het
Tll1	C	A	8: 64,041,405		probably null	Het
Trim15	A	G	17: 36,862,341	L284P	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
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
R5194:Myt1l	UTSW	12	29811648	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
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
U24488:Myt1l	UTSW	12	29826896	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTCAAACAGCTTGAGATTCCTC -3'
(R):5'- ATTGCAGAAACAGTGCCCC -3'

Sequencing Primer
(F):5'- GAGATTCCTCAGTATGGCTACAG -3'
(R):5'- GAAACAGTGCCCCTCCTG -3'

Posted On

2018-08-01