Mutagenetix > Incidental Mutations

Incidental Mutation 'R5429:Myt1l'

427082

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

042995-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5429 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29528384-29923213 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29832332 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 509 (G509R)

Ref Sequence

ENSEMBL: ENSMUSP00000151588 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000021009
AA Change: G509R

SMART Domains

Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: G509R

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: G511R

SMART Domains

Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: G511R

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: G509R

Meta Mutation Damage Score

0.6392

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	G	A	13: 66,431,828	P199S	probably benign	Het
Akap13	T	G	7: 75,602,904	S261A	possibly damaging	Het
Ankrd34a	G	A	3: 96,597,521	G14R	probably damaging	Het
Auts2	G	A	5: 131,472,335	T289M	probably damaging	Het
Btaf1	G	A	19: 36,994,857	V1331I	possibly damaging	Het
Ciz1	T	A	2: 32,376,043	I609K	possibly damaging	Het
Clca3b	C	T	3: 144,846,459	V154I	probably damaging	Het
Csde1	A	G	3: 103,052,841	T564A	possibly damaging	Het
Csrnp2	A	G	15: 100,482,054	V452A	probably benign	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Dock6	T	C	9: 21,832,881	D677G	probably damaging	Het
Filip1l	A	T	16: 57,570,255	E402V	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Ghr	G	A	15: 3,388,675	Q37*	probably null	Het
Gm10770	C	T	2: 150,179,423	R58H	probably benign	Het
Gm12789	T	C	4: 101,989,961	Y148H	possibly damaging	Het
Herc4	T	A	10: 63,275,013	N234K	probably benign	Het
Itih3	A	G	14: 30,923,521	V10A	probably benign	Het
Kat14	T	A	2: 144,393,323	D234E	probably benign	Het
Kif13a	A	G	13: 46,772,769		probably null	Het
Kif2b	A	G	11: 91,577,229	V76A	probably benign	Het
Mboat1	A	G	13: 30,219,667	T150A	probably benign	Het
Mfsd1	T	A	3: 67,599,960	L398H	probably damaging	Het
Nfx1	T	C	4: 41,004,343	C705R	probably damaging	Het
Olfr318	T	A	11: 58,720,524	N175Y	probably damaging	Het
Olfr60	A	G	7: 140,345,273	F239L	possibly damaging	Het
Pcdh10	T	C	3: 45,384,200	S931P	probably benign	Het
Pdpk1	T	C	17: 24,091,560	E205G	probably benign	Het
Ppp2r2a	A	T	14: 67,023,756	F172I	probably damaging	Het
Ppp2r5e	T	A	12: 75,453,763	D452V	probably damaging	Het
Rims2	A	T	15: 39,345,355	T185S	probably damaging	Het
Rpusd4	T	C	9: 35,272,602	V209A	probably benign	Het
Safb	T	C	17: 56,588,822	V20A	probably benign	Het
Scaf8	C	A	17: 3,197,110	P903T	probably benign	Het
Slc30a7	A	G	3: 116,006,925	S31P	possibly damaging	Het
Slc9b1	T	C	3: 135,373,263		probably null	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Tbc1d32	T	C	10: 56,027,993	D1226G	probably damaging	Het
Tlnrd1	G	T	7: 83,882,314	T303N	probably damaging	Het
Tmc1	G	T	19: 20,789,622	N738K	possibly damaging	Het
Tmem41a	A	G	16: 21,934,856	I255T	probably benign	Het
Trim7	G	A	11: 48,849,955	C293Y	probably damaging	Het
Trpc6	C	T	9: 8,634,074	Q385*	probably null	Het
Ttc39b	A	G	4: 83,243,953	I330T	possibly damaging	Het
Vil1	C	T	1: 74,432,331	T757I	probably benign	Het
Zfp462	T	C	4: 55,060,077	V1201A	probably damaging	Het
Zfp473	T	A	7: 44,732,848	E686V	possibly damaging	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
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
U24488:Myt1l	UTSW	12	29826896	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACAGCTTATCATGTAACACACGG -3'
(R):5'- TGCCATGAAGATGAGGTTGG -3'

Sequencing Primer
(F):5'- GCAAAAGCCTGCTGTCCCAG -3'
(R):5'- TTGGGGAAGGGATGATTGAC -3'

Posted On

2016-09-01