Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00490:Myt1l'

12210

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myt1l

Ensembl Gene

ENSMUSG00000061911

Gene Name

myelin transcription factor 1-like

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00490

Quality Score

Status

Chromosome

Chromosomal Location

29578383-29973212 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29877423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 358 (V358E)

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: V358E

SMART Domains

Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: V358E

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: V358E

SMART Domains

Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: V358E

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: V358E

Coding Region Coverage

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	A	G	4: 129,905,665 (GRCm39)	E837G	possibly damaging	Het
Atp13a3	A	G	16: 30,171,172 (GRCm39)	M291T	probably benign	Het
Coq8b	C	A	7: 26,956,902 (GRCm39)	H518Q	probably benign	Het
Crebrf	A	G	17: 26,962,067 (GRCm39)	D388G	probably damaging	Het
Cyp2d10	A	T	15: 82,287,515 (GRCm39)	S244T	possibly damaging	Het
Ddr2	A	T	1: 169,832,763 (GRCm39)	L99H	probably damaging	Het
Dennd1a	G	T	2: 37,691,164 (GRCm39)	D251E	probably damaging	Het
Fam210a	G	T	18: 68,401,983 (GRCm39)	T210N	probably damaging	Het
Gigyf2	C	A	1: 87,364,572 (GRCm39)	Q951K	probably damaging	Het
Gramd1b	T	A	9: 40,221,337 (GRCm39)	I280F	probably damaging	Het
Gsdmc3	T	A	15: 63,731,526 (GRCm39)	K335N	probably benign	Het
Loxhd1	A	T	18: 77,518,770 (GRCm39)	T993S	possibly damaging	Het
Mfsd6	A	G	1: 52,747,413 (GRCm39)	L484P	probably damaging	Het
Mzt1	A	G	14: 99,278,106 (GRCm39)		probably benign	Het
Nrxn2	C	A	19: 6,523,623 (GRCm39)	H514Q	possibly damaging	Het
Nup214	G	A	2: 31,923,991 (GRCm39)	E2K	probably damaging	Het
Pcdhb4	G	T	18: 37,442,969 (GRCm39)	G760W	possibly damaging	Het
Ptger2	T	C	14: 45,239,198 (GRCm39)		probably benign	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Smcr8	T	A	11: 60,669,458 (GRCm39)		probably null	Het
Spef2	A	T	15: 9,740,621 (GRCm39)	D46E	probably damaging	Het
Tbc1d32	G	A	10: 56,031,861 (GRCm39)	P689L	probably damaging	Het
Tep1	C	A	14: 51,070,930 (GRCm39)	W2123L	probably damaging	Het
Thg1l	T	C	11: 45,845,048 (GRCm39)	E8G	probably benign	Het
Tmem236	A	G	2: 14,224,189 (GRCm39)	Y326C	probably damaging	Het
Trip4	C	T	9: 65,740,692 (GRCm39)	G573R	probably damaging	Het
Trrap	C	T	5: 144,762,035 (GRCm39)	T2320I	probably benign	Het
Tsnaxip1	A	G	8: 106,568,816 (GRCm39)	N435S	probably damaging	Het
Ube3a	A	G	7: 58,921,858 (GRCm39)	N77D	probably damaging	Het
Uvrag	A	T	7: 98,628,948 (GRCm39)	I373N	probably damaging	Het

Other mutations in Myt1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6758:Myt1l	UTSW	12	29,892,599 (GRCm39)	missense	possibly damaging	0.94
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

Posted On

2012-12-06