Mutagenetix > Incidental Mutation

Incidental Mutation 'R2865:Myt1l'

253178

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

040454-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29578383-29973212 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29960788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 75 (T75A)

Gene Model

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

AlphaFold

P97500

Predicted Effect

unknown
Transcript: ENSMUST00000021009
AA Change: T1034A

SMART Domains

Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: T1034A

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: T1036A

SMART Domains

Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: T1036A

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: T1034A

Predicted Effect

probably benign
Transcript: ENSMUST00000219744
AA Change: T75A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0713

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (30/30)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	G	8: 12,329,635 (GRCm39)	Q30R	unknown	Het
Bmper	A	G	9: 23,395,237 (GRCm39)	N656S	probably benign	Het
Cic	T	A	7: 24,972,646 (GRCm39)	D792E	probably damaging	Het
Dab1	G	A	4: 104,537,343 (GRCm39)	C192Y	probably benign	Het
Ddx6	G	T	9: 44,525,553 (GRCm39)	L103F	probably damaging	Het
Fhod1	T	C	8: 106,059,543 (GRCm39)	K714R	probably null	Het
Flt1	T	C	5: 147,531,431 (GRCm39)	Q844R	possibly damaging	Het
Fnip1	T	C	11: 54,393,250 (GRCm39)	I562T	probably damaging	Het
Fxr2	T	A	11: 69,530,253 (GRCm39)	I40N	probably damaging	Het
Gm7168	A	G	17: 14,170,117 (GRCm39)	K495E	probably benign	Het
Gria2	C	T	3: 80,639,392 (GRCm39)	V207I	probably benign	Het
Ifna6	G	C	4: 88,746,099 (GRCm39)	R149S	probably benign	Het
Ifna6	C	A	4: 88,746,086 (GRCm39)	T145K	probably benign	Het
Igf2r	T	C	17: 12,905,611 (GRCm39)	H2240R	probably damaging	Het
Ighv8-9	G	A	12: 115,432,066 (GRCm39)	P82S	probably benign	Het
Itpr3	T	C	17: 27,310,525 (GRCm39)	V436A	probably benign	Het
Ldb3	T	G	14: 34,251,460 (GRCm39)	D609A	probably damaging	Het
Lgalsl2	G	T	7: 5,362,668 (GRCm39)	D100Y	probably benign	Het
Luc7l	C	A	17: 26,485,335 (GRCm39)	Q112K	probably damaging	Het
Marchf4	C	T	1: 72,491,734 (GRCm39)	R179H	probably damaging	Het
Or5t9	A	T	2: 86,659,198 (GRCm39)	D34V	probably benign	Het
Or8h10	A	T	2: 86,808,805 (GRCm39)	C112S	possibly damaging	Het
Parp4	C	T	14: 56,851,181 (GRCm39)	T728M	probably damaging	Het
Ppp1r10	A	G	17: 36,239,384 (GRCm39)	T398A	possibly damaging	Het
Ppp4c	A	T	7: 126,391,272 (GRCm39)	I20N	probably damaging	Het
Rph3a	C	T	5: 121,085,990 (GRCm39)	G482D	probably damaging	Het
Rtel1	T	A	2: 180,991,765 (GRCm39)	F388I	probably benign	Het
Slc12a6	G	A	2: 112,177,662 (GRCm39)	V594I	probably benign	Het
Slc2a4	G	A	11: 69,836,942 (GRCm39)	S134F	probably damaging	Het
Tead4	A	T	6: 128,225,062 (GRCm39)		probably null	Het
Usp40	G	A	1: 87,877,701 (GRCm39)	Q1152*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GCACCACGGATCTGCATTTC -3'
(R):5'- AGTGACATCTGACCTCTCTAACCAG -3'

Sequencing Primer
(F):5'- CCTGGAACTTACTTTGTAGACCAGG -3'
(R):5'- TGACCTCTCTAACCAGCAGGAATG -3'

Posted On

2014-12-04