Mutagenetix > Incidental Mutations

Incidental Mutation 'R6084:Myt1l'

482415

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

044243-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6084 (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 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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,670,954	D958G	possibly damaging	Het
Bag4	T	C	8: 25,771,231	T161A	probably benign	Het
Bora	A	T	14: 99,062,294	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,497,521		probably null	Het
Cass4	G	T	2: 172,426,912	A307S	probably benign	Het
Cbln4	A	T	2: 172,042,096	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,668,673	N2K	probably benign	Het
Ccnf	T	A	17: 24,231,837	D389V	probably damaging	Het
Cdipt	T	C	7: 126,979,601	S161P	probably benign	Het
Ceacam19	T	C	7: 19,882,887	I161V	probably benign	Het
Cfap65	A	G	1: 74,920,405	I862T	probably damaging	Het
Cfi	T	A	3: 129,858,370	L230Q	probably benign	Het
Chac2	G	A	11: 30,986,159	R30W	probably damaging	Het
Cmc2	G	A	8: 116,889,827		probably benign	Het
Col1a2	A	T	6: 4,505,840	M1L	probably benign	Het
Cox8a	C	A	19: 7,217,418	R32L	possibly damaging	Het
Cubn	T	A	2: 13,430,897	N1083Y	probably damaging	Het
D430042O09Rik	G	A	7: 125,814,865	G394R	probably benign	Het
D630003M21Rik	T	C	2: 158,217,584	D132G	probably damaging	Het
Dedd2	G	A	7: 25,211,290	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,524,213	D358G	probably benign	Het
Dysf	T	A	6: 84,019,604	F29L	probably damaging	Het
Dysf	T	C	6: 84,112,119	L888P	probably damaging	Het
Ebf4	A	G	2: 130,309,723	D277G	probably damaging	Het
Ecm2	T	A	13: 49,515,094	L91*	probably null	Het
Foxs1	T	C	2: 152,932,842	D97G	possibly damaging	Het
Frs2	A	C	10: 117,076,809		probably null	Het
Gm6768	A	G	12: 119,261,651		noncoding transcript	Het
Grp	A	T	18: 65,879,937	D58V	probably damaging	Het
Hif1a	T	G	12: 73,941,842	F537C	probably damaging	Het
Icam4	G	A	9: 21,029,539	S29N	probably benign	Het
Itfg1	T	C	8: 85,726,170	E523G	probably benign	Het
Jph2	T	C	2: 163,375,680	K359E	probably damaging	Het
Kcnq2	A	T	2: 181,087,656	V490E	possibly damaging	Het
Klhl18	C	T	9: 110,428,727	M548I	possibly damaging	Het
Lpin3	A	G	2: 160,895,801	Y197C	probably benign	Het
Lrp1	T	C	10: 127,560,553	N2381D	probably benign	Het
Man1a	A	T	10: 53,919,211	W649R	probably damaging	Het
Map4	T	C	9: 110,064,292	L542P	probably damaging	Het
Mboat2	A	T	12: 24,878,285	H52L	probably damaging	Het
Mok	C	G	12: 110,814,946	S91T	probably benign	Het
Mtmr11	G	T	3: 96,168,084	R360L	probably damaging	Het
Olfr1288	A	T	2: 111,479,389	N202Y	probably damaging	Het
Olfr341	A	G	2: 36,479,512	V206A	probably benign	Het
Olfr544	T	C	7: 102,484,389	T244A	probably damaging	Het
Olfr67	C	T	7: 103,787,955	M107I	probably benign	Het
Olfr836	A	G	9: 19,121,327	D121G	probably damaging	Het
Olfr867	A	T	9: 20,054,883	H75Q	possibly damaging	Het
Padi3	G	T	4: 140,795,843	T292N	probably damaging	Het
Pard6g	A	C	18: 80,117,205	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,013,987	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,928,463	T398I	probably damaging	Het
Prickle2	A	T	6: 92,416,848	C225*	probably null	Het
Prmt2	G	A	10: 76,210,444	T317I	probably benign	Het
Psg22	T	G	7: 18,719,780	N172K	probably benign	Het
Ptpn9	C	T	9: 57,033,163	R196*	probably null	Het
Rap1b	C	T	10: 117,824,611	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,196,278		probably null	Het
Rlf	A	T	4: 121,149,215	M856K	possibly damaging	Het
Rnf149	A	G	1: 39,577,174	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007	E636G	probably benign	Het
Rsad2	A	T	12: 26,454,123	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,908,493	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,804,212	M102V	probably benign	Het
Slc34a2	T	A	5: 53,067,647	C377S	possibly damaging	Het
Slco1c1	T	C	6: 141,546,770	V293A	probably benign	Het
Spidr	A	T	16: 16,140,024	S80T	possibly damaging	Het
Syne1	C	T	10: 5,348,994	E1031K	probably damaging	Het
Synj2	G	A	17: 6,017,614	V121I	probably damaging	Het
Synj2	A	T	17: 6,038,098	T1430S	probably damaging	Het
Tecpr2	G	T	12: 110,929,109	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,784,100	I986F	probably benign	Het
Trib1	G	A	15: 59,654,475	R298H	probably damaging	Het
Ttll10	T	A	4: 156,045,357	D283V	probably benign	Het
Ttn	T	A	2: 76,814,779	K673*	probably null	Het
Ubqlnl	T	A	7: 104,148,698	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,525,721	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,117,046	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,464,210	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,632,278	Q243L	probably damaging	Het
Wdr24	C	A	17: 25,824,530	R109S	probably damaging	Het
Zfp113	T	C	5: 138,145,668	M107V	probably benign	Het
Zfp426	G	T	9: 20,470,627	Q341K	possibly damaging	Het
Zfp616	A	T	11: 74,083,846	K314*	probably null	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
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'- GCTTATCATGTAACACACGGG -3'
(R):5'- CACTGAGGTGCCATGAAGATG -3'

Posted On

2017-07-14