Mutagenetix > Incidental Mutation

Incidental Mutation 'R6758:Myt1l'

531112

Institutional Source

Beutler Lab

Gene Symbol

Myt1l

Ensembl Gene

ENSMUSG00000061911

Gene Name

myelin transcription factor 1-like

Synonyms

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

MMRRC Submission

044874-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6758 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29578383-29973212 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 29892599 bp (GRCm39)

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]

AlphaFold

P97500

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
Ankrd17	A	T	5: 90,411,172 (GRCm39)	D1374E	probably damaging	Het
Cd96	C	A	16: 45,938,367 (GRCm39)	V33L	possibly damaging	Het
Drd1	T	C	13: 54,207,308 (GRCm39)	E295G	probably benign	Het
Fzd8	T	A	18: 9,213,238 (GRCm39)	C107S	possibly damaging	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Gm11595	C	A	11: 99,663,366 (GRCm39)	V105L	unknown	Het
Gm11595	A	T	11: 99,663,367 (GRCm39)	C104*	probably null	Het
Igsf3	T	C	3: 101,332,814 (GRCm39)	Y31H	probably damaging	Het
Ikzf2	A	T	1: 69,578,059 (GRCm39)	H483Q	probably damaging	Het
Itgbl1	A	G	14: 124,094,901 (GRCm39)	K309E	probably benign	Het
Nid2	T	A	14: 19,852,551 (GRCm39)	S1086R	probably damaging	Het
Or1o1	A	G	17: 37,716,586 (GRCm39)	D49G	probably damaging	Het
Or5h24	T	C	16: 58,919,328 (GRCm39)	E9G	probably damaging	Het
Or6c65	T	C	10: 129,603,920 (GRCm39)	I185T	probably damaging	Het
Rorc	A	G	3: 94,294,825 (GRCm39)	N51S	possibly damaging	Het
Sanbr	T	C	11: 23,538,475 (GRCm39)		probably null	Het
Simc1	C	T	13: 54,673,361 (GRCm39)	P570S	possibly damaging	Het
Smn1	T	A	13: 100,268,946 (GRCm39)	M264K	possibly damaging	Het
Tiam2	A	G	17: 3,568,678 (GRCm39)	D1608G	probably benign	Het
Tll1	C	A	8: 64,494,439 (GRCm39)		probably null	Het
Trim15	A	G	17: 37,173,233 (GRCm39)	L284P	probably benign	Het

Other mutations in Myt1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Myt1l	APN	12	29,877,423 (GRCm39)	missense	unknown
IGL00896:Myt1l	APN	12	29,876,885 (GRCm39)	missense	unknown
IGL01653:Myt1l	APN	12	29,960,770 (GRCm39)	missense	unknown
IGL02632:Myt1l	APN	12	29,964,292 (GRCm39)	missense	unknown
IGL03088:Myt1l	APN	12	29,970,476 (GRCm39)	missense	probably benign	0.03
IGL03212:Myt1l	APN	12	29,877,819 (GRCm39)	missense	unknown
BB003:Myt1l	UTSW	12	29,861,651 (GRCm39)	missense	unknown
BB013:Myt1l	UTSW	12	29,861,651 (GRCm39)	missense	unknown
R0057:Myt1l	UTSW	12	29,892,611 (GRCm39)	splice site	probably null
R0126:Myt1l	UTSW	12	29,901,719 (GRCm39)	missense	possibly damaging	0.91
R0356:Myt1l	UTSW	12	29,861,500 (GRCm39)	missense	unknown
R0538:Myt1l	UTSW	12	29,892,570 (GRCm39)	missense	possibly damaging	0.47
R0587:Myt1l	UTSW	12	29,861,634 (GRCm39)	missense	unknown
R0629:Myt1l	UTSW	12	29,861,484 (GRCm39)	missense	unknown
R0709:Myt1l	UTSW	12	29,877,732 (GRCm39)	missense	unknown
R0736:Myt1l	UTSW	12	29,877,813 (GRCm39)	missense	unknown
R0920:Myt1l	UTSW	12	29,936,138 (GRCm39)	missense	unknown
R1618:Myt1l	UTSW	12	29,877,396 (GRCm39)	missense	unknown
R1660:Myt1l	UTSW	12	29,945,272 (GRCm39)	missense	unknown
R1716:Myt1l	UTSW	12	29,861,537 (GRCm39)	missense	unknown
R1758:Myt1l	UTSW	12	29,877,241 (GRCm39)	missense	unknown
R1852:Myt1l	UTSW	12	29,901,660 (GRCm39)	missense	probably benign	0.27
R1971:Myt1l	UTSW	12	29,877,091 (GRCm39)	missense	unknown
R2120:Myt1l	UTSW	12	29,833,618 (GRCm39)	critical splice acceptor site	probably null
R2227:Myt1l	UTSW	12	29,876,969 (GRCm39)	missense	unknown
R2865:Myt1l	UTSW	12	29,960,788 (GRCm39)	missense	probably benign	0.00
R4587:Myt1l	UTSW	12	29,960,800 (GRCm39)	missense	unknown
R4603:Myt1l	UTSW	12	29,892,539 (GRCm39)	missense	probably benign	0.01
R4659:Myt1l	UTSW	12	29,899,456 (GRCm39)	missense	probably damaging	0.98
R4734:Myt1l	UTSW	12	29,969,925 (GRCm39)	missense	possibly damaging	0.90
R4786:Myt1l	UTSW	12	29,861,457 (GRCm39)	missense	unknown
R4824:Myt1l	UTSW	12	29,899,399 (GRCm39)	missense	probably benign	0.02
R4835:Myt1l	UTSW	12	29,945,304 (GRCm39)	missense	unknown
R4888:Myt1l	UTSW	12	29,936,138 (GRCm39)	missense	unknown
R4976:Myt1l	UTSW	12	29,882,302 (GRCm39)	missense	unknown
R4980:Myt1l	UTSW	12	29,877,038 (GRCm39)	missense	unknown
R5119:Myt1l	UTSW	12	29,882,302 (GRCm39)	missense	unknown
R5194:Myt1l	UTSW	12	29,861,647 (GRCm39)	missense	unknown
R5247:Myt1l	UTSW	12	29,882,331 (GRCm39)	missense	unknown
R5249:Myt1l	UTSW	12	29,882,331 (GRCm39)	missense	unknown
R5427:Myt1l	UTSW	12	29,882,331 (GRCm39)	missense	unknown
R5428:Myt1l	UTSW	12	29,882,331 (GRCm39)	missense	unknown
R5429:Myt1l	UTSW	12	29,882,331 (GRCm39)	missense	unknown
R5431:Myt1l	UTSW	12	29,882,331 (GRCm39)	missense	unknown
R5628:Myt1l	UTSW	12	29,861,620 (GRCm39)	missense	unknown
R5926:Myt1l	UTSW	12	29,882,331 (GRCm39)	missense	unknown
R5959:Myt1l	UTSW	12	29,970,039 (GRCm39)	critical splice donor site	probably null
R6082:Myt1l	UTSW	12	29,892,518 (GRCm39)	missense	probably damaging	1.00
R6082:Myt1l	UTSW	12	29,882,331 (GRCm39)	missense	unknown
R6084:Myt1l	UTSW	12	29,882,331 (GRCm39)	missense	unknown
R6086:Myt1l	UTSW	12	29,882,331 (GRCm39)	missense	unknown
R6145:Myt1l	UTSW	12	29,882,380 (GRCm39)	missense	unknown
R6293:Myt1l	UTSW	12	29,877,627 (GRCm39)	missense	unknown
R6315:Myt1l	UTSW	12	29,877,797 (GRCm39)	missense	unknown
R6458:Myt1l	UTSW	12	29,945,298 (GRCm39)	missense	unknown
R6490:Myt1l	UTSW	12	29,882,365 (GRCm39)	missense	unknown
R7230:Myt1l	UTSW	12	29,833,873 (GRCm39)	missense	probably damaging	0.99
R7330:Myt1l	UTSW	12	29,901,553 (GRCm39)	missense	unknown
R7545:Myt1l	UTSW	12	29,877,087 (GRCm39)	missense	unknown
R7662:Myt1l	UTSW	12	29,876,868 (GRCm39)	missense	unknown
R7744:Myt1l	UTSW	12	29,877,548 (GRCm39)	missense	unknown
R7926:Myt1l	UTSW	12	29,861,651 (GRCm39)	missense	unknown
R8832:Myt1l	UTSW	12	29,970,351 (GRCm39)	missense	unknown
R8903:Myt1l	UTSW	12	29,861,468 (GRCm39)	missense	unknown
R8923:Myt1l	UTSW	12	29,960,800 (GRCm39)	missense	unknown
R8935:Myt1l	UTSW	12	29,877,243 (GRCm39)	missense	unknown
R8944:Myt1l	UTSW	12	29,861,564 (GRCm39)	missense	unknown
R9000:Myt1l	UTSW	12	29,901,740 (GRCm39)	missense	unknown
R9329:Myt1l	UTSW	12	29,901,659 (GRCm39)	missense	unknown
R9523:Myt1l	UTSW	12	29,877,611 (GRCm39)	missense	unknown
R9599:Myt1l	UTSW	12	29,943,441 (GRCm39)	missense	unknown
U24488:Myt1l	UTSW	12	29,876,895 (GRCm39)	missense	unknown
Z1177:Myt1l	UTSW	12	29,892,467 (GRCm39)	missense	unknown
Z1177:Myt1l	UTSW	12	29,861,430 (GRCm39)	missense	probably damaging	1.00

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