Mutagenetix > Incidental Mutation

Incidental Mutation 'R6145:Myt1l'

488832

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

044292-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29528384-29923213 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29832381 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 525 (S525N)

Ref Sequence

ENSEMBL: ENSMUSP00000151588 (fasta)

Gene Model

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

AlphaFold

P97500

Predicted Effect

unknown
Transcript: ENSMUST00000021009
AA Change: S525N

SMART Domains

Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: S525N

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: S527N

SMART Domains

Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: S527N

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: S525N

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	A	1: 86,052,942		probably null	Het
4930402H24Rik	T	C	2: 130,778,473	I247V	probably benign	Het
Abca8b	A	G	11: 109,973,808	V316A	probably benign	Het
Acad10	A	T	5: 121,622,033	V999D	probably damaging	Het
Acot8	A	G	2: 164,803,065	V66A	probably benign	Het
Ankrd11	T	C	8: 122,892,661	H1484R	probably damaging	Het
Anxa6	A	G	11: 54,994,904	F405S	probably damaging	Het
Asmt	G	A	X: 170,674,663	V101I	probably damaging	Het
Atp1a2	C	T	1: 172,287,238	V327I	probably damaging	Het
Brdt	A	G	5: 107,377,999	E906G	possibly damaging	Het
Cacna1g	A	T	11: 94,462,261	C313S	probably damaging	Het
Camk2d	T	C	3: 126,805,858	I329T	probably benign	Het
Cavin4	A	T	4: 48,663,794	H58L	probably damaging	Het
Ccdc78	C	A	17: 25,789,065	P317T	probably benign	Het
Cdc16	T	G	8: 13,767,573	Y295D	possibly damaging	Het
Cdyl2	T	A	8: 116,594,978	N270I	probably damaging	Het
Cfap221	T	A	1: 119,984,816	I114F	possibly damaging	Het
Dmxl1	A	G	18: 49,912,766	E2414G	possibly damaging	Het
Dnah1	C	A	14: 31,300,970	R1070L	probably benign	Het
Dnah14	T	C	1: 181,666,417	S1713P	probably benign	Het
Dock10	C	A	1: 80,575,904	G602*	probably null	Het
Ep400	A	T	5: 110,756,703	V10D	possibly damaging	Het
Epas1	T	C	17: 86,829,429	C807R	probably benign	Het
Esrrb	C	T	12: 86,505,899	P200L	probably benign	Het
Fbxw26	T	C	9: 109,732,623	I168V	probably benign	Het
Fsip2	A	T	2: 82,993,768	H6615L	possibly damaging	Het
Galk2	A	T	2: 125,946,842	Q272L	possibly damaging	Het
Gas7	A	C	11: 67,629,612	T43P	probably damaging	Het
Gm5134	A	T	10: 75,995,839	I371F	probably damaging	Het
Gpr31b	C	T	17: 13,051,379	R301Q	possibly damaging	Het
Grk1	T	A	8: 13,405,765	Y216*	probably null	Het
Grm5	T	A	7: 88,026,601	M441K	probably damaging	Het
Heatr6	A	G	11: 83,766,136	E408G	probably damaging	Het
Hoxc9	G	T	15: 102,983,959	K201N	probably damaging	Het
Igsf10	T	A	3: 59,331,656	Y368F	possibly damaging	Het
Il2ra	A	T	2: 11,680,246	D131V	probably damaging	Het
Imp4	A	G	1: 34,440,096	E19G	probably benign	Het
Kcnk18	T	C	19: 59,235,607	*395Q	probably null	Het
Kdm6b	A	T	11: 69,405,026	L805Q	unknown	Het
Lgr4	T	A	2: 110,007,243	L427*	probably null	Het
Nasp	G	A	4: 116,611,077	T237I	probably benign	Het
Nell2	G	T	15: 95,473,561	Q98K	probably damaging	Het
Nfasc	C	T	1: 132,634,717	G107R	probably damaging	Het
Nsun4	A	G	4: 116,040,206	S203P	probably damaging	Het
Olfr24	T	G	9: 18,755,569	D22A	probably benign	Het
Olfr855	T	C	9: 19,584,888	V117A	probably benign	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pde10a	T	C	17: 8,929,117	V366A	probably damaging	Het
Pdxk	T	A	10: 78,443,791	D250V	probably benign	Het
Pih1d1	T	A	7: 45,159,044	I179N	probably damaging	Het
Plaa	T	A	4: 94,583,992	I294F	probably damaging	Het
Pmel	C	A	10: 128,715,935	P213T	probably damaging	Het
Pom121l2	A	T	13: 21,982,302	R248*	probably null	Het
Pou2f1	T	C	1: 165,875,433		probably benign	Het
Ppm1j	G	A	3: 104,781,379	R98H	probably damaging	Het
Prkdc	C	T	16: 15,772,073	P2600L	probably damaging	Het
Prom1	T	C	5: 44,029,649	N422S	probably benign	Het
Pspn	C	T	17: 56,999,467	C154Y	probably damaging	Het
Ptdss1	T	C	13: 66,972,637		probably null	Het
Rapgef1	A	G	2: 29,736,666	Y993C	probably damaging	Het
Scrn2	A	C	11: 97,032,853	T219P	probably benign	Het
Sec23ip	T	G	7: 128,778,484	S874R	probably damaging	Het
Sept4	G	A	11: 87,585,246		probably null	Het
Slc15a3	C	T	19: 10,857,251	L499F	probably damaging	Het
Spaca9	G	A	2: 28,693,781	R64W	probably damaging	Het
Sra1	A	G	18: 36,667,575	M193T	probably damaging	Het
Srsf4	G	T	4: 131,900,294		probably benign	Het
Syne1	T	C	10: 5,052,750	D8055G	probably damaging	Het
Syne4	T	A	7: 30,316,563		probably null	Het
Tbc1d24	C	A	17: 24,208,229	G253V	probably damaging	Het
Tbck	T	A	3: 132,732,215	I467N	probably damaging	Het
Tln1	T	A	4: 43,538,030	M1857L	possibly damaging	Het
Ttll2	T	C	17: 7,351,632	R299G	probably benign	Het
Ugt2b36	T	G	5: 87,066,213	E524A	probably benign	Het
Vmn2r124	C	T	17: 18,062,851	T269I	probably benign	Het
Vmn2r4	A	G	3: 64,406,943	F206L	probably benign	Het
Zfp346	A	G	13: 55,115,574	K156R	probably 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
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
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
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
R8832:Myt1l	UTSW	12	29920352	missense	unknown
R8903:Myt1l	UTSW	12	29811469	missense	unknown
R8923:Myt1l	UTSW	12	29910801	missense	unknown
R8935:Myt1l	UTSW	12	29827244	missense	unknown
R8944:Myt1l	UTSW	12	29811565	missense	unknown
R9000:Myt1l	UTSW	12	29851741	missense	unknown
R9329:Myt1l	UTSW	12	29851660	missense	unknown
R9523:Myt1l	UTSW	12	29827612	missense	unknown
R9599:Myt1l	UTSW	12	29893442	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'- TCTTCAGGTTGCTGGATAACC -3'
(R):5'- TGTTCCAGGGAGTCAGCTTCAG -3'

Sequencing Primer
(F):5'- ATAACCGCATGAGTCTGCAGTTG -3'
(R):5'- TGGTACCCAGAATATCCAGGAG -3'

Posted On

2017-10-10