Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02453:Dmtf1l'

293728

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dmtf1l

Ensembl Gene

ENSMUSG00000058670

Gene Name

cyclin D binding myb like transcription factor 1 like

Synonyms

4932411N23Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02453

Quality Score

Status

Chromosome

Chromosomal Location

125720085-125723491 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 125722223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 294 (S294*)

Ref Sequence

ENSEMBL: ENSMUSP00000079860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081074]

AlphaFold

Q8C0S0

Predicted Effect

probably null
Transcript: ENSMUST00000081074
AA Change: S294*

SMART Domains

Protein: ENSMUSP00000079860
Gene: ENSMUSG00000058670
AA Change: S294*

Domain	Start	End	E-Value	Type
low complexity region	65	76	N/A	INTRINSIC
SANT	129	197	2.49e1	SMART
SANT	200	247	1.12e-7	SMART
SANT	249	308	8.77e-10	SMART
SANT	312	367	1.25e0	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,950,075 (GRCm39)		probably null	Het
Actr1b	A	G	1: 36,741,588 (GRCm39)	S51P	probably damaging	Het
Cdhr3	T	C	12: 33,092,502 (GRCm39)	Y703C	probably damaging	Het
Col9a1	A	T	1: 24,218,438 (GRCm39)	L54F	unknown	Het
Crim1	A	G	17: 78,651,913 (GRCm39)	K546E	probably damaging	Het
Dap3	A	G	3: 88,835,634 (GRCm39)	V240A	probably benign	Het
Hadha	T	C	5: 30,349,304 (GRCm39)		probably benign	Het
Imp3	G	T	9: 56,845,293 (GRCm39)	R168L	probably benign	Het
Or1b1	A	T	2: 36,995,209 (GRCm39)	V151E	probably benign	Het
Otop2	T	A	11: 115,215,455 (GRCm39)	Y125*	probably null	Het
Pacs1	A	G	19: 5,185,033 (GRCm39)	W931R	probably damaging	Het
Rasgrf1	A	T	9: 89,826,813 (GRCm39)	M141L	possibly damaging	Het
Ryr3	C	A	2: 112,512,073 (GRCm39)		probably benign	Het
Strbp	A	T	2: 37,476,520 (GRCm39)		probably null	Het
Sult2a5	T	A	7: 13,396,432 (GRCm39)	M173K	possibly damaging	Het
Tmem63a	G	A	1: 180,790,634 (GRCm39)	V431M	probably benign	Het
Vmn2r114	T	A	17: 23,530,108 (GRCm39)	T100S	probably benign	Het
Wdr45	T	C	X: 7,593,520 (GRCm39)		probably null	Het

Other mutations in Dmtf1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01987:Dmtf1l	APN	X	125,722,098 (GRCm39)	missense	possibly damaging	0.90
IGL02453:Dmtf1l	APN	X	125,722,686 (GRCm39)	missense	possibly damaging	0.50
R4735:Dmtf1l	UTSW	X	125,722,217 (GRCm39)	missense	probably damaging	1.00
Z1177:Dmtf1l	UTSW	X	125,722,156 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16