Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02139:Trmt44'

281468

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trmt44

Ensembl Gene

ENSMUSG00000029097

Gene Name

tRNA methyltransferase 44

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL02139

Quality Score

Status

Chromosome

Chromosomal Location

35556203-35575070 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 35568799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 345 (K345*)

Ref Sequence

ENSEMBL: ENSMUSP00000030980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030980]

AlphaFold

Q9D2Q2

Predicted Effect

probably null
Transcript: ENSMUST00000030980
AA Change: K345*

SMART Domains

Protein: ENSMUSP00000030980
Gene: ENSMUSG00000029097
AA Change: K345*

Domain	Start	End	E-Value	Type
Pfam:AdoMet_MTase	252	363	3.1e-42	PFAM
low complexity region	524	540	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145930

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	G	A	4: 124,610,576	T61M	unknown	Het
Ambn	T	C	5: 88,465,290	F217L	probably benign	Het
Cast	T	C	13: 74,728,365	D121G	possibly damaging	Het
Clmn	T	C	12: 104,781,099	I730V	probably benign	Het
Cryzl1	T	C	16: 91,712,251	K54R	possibly damaging	Het
Cyp3a16	A	G	5: 145,455,480	S222P	probably benign	Het
Dcstamp	T	C	15: 39,754,458	S88P	probably damaging	Het
F5	A	G	1: 164,192,674	D906G	possibly damaging	Het
Fam193a	A	G	5: 34,444,737	T428A	probably benign	Het
Fbxw16	T	G	9: 109,436,686	D355A	probably benign	Het
Focad	T	C	4: 88,129,054		probably null	Het
Ftsj3	G	A	11: 106,254,663	P82S	possibly damaging	Het
Gm5346	T	A	8: 43,625,578	R536S	probably benign	Het
Grwd1	A	T	7: 45,827,243	H307Q	probably damaging	Het
Hip1r	T	C	5: 123,996,244	F289S	probably damaging	Het
Igkc	C	T	6: 70,726,575	R47*	probably null	Het
Lcn3	T	C	2: 25,766,634	F100S	possibly damaging	Het
Lmnb1	T	C	18: 56,749,799	F572S	probably benign	Het
Mrps17	T	A	5: 129,716,796	I18N	probably damaging	Het
Myo9a	G	A	9: 59,779,992	V127I	probably benign	Het
Olfr1000	T	A	2: 85,608,230	K227*	probably null	Het
Olfr1260	T	C	2: 89,978,429	V217A	possibly damaging	Het
Olfr168	T	C	16: 19,530,890	D10G	probably benign	Het
Pcdhb21	A	G	18: 37,515,246	D476G	probably damaging	Het
Pkd2l2	T	A	18: 34,412,715	Y56*	probably null	Het
Pld1	C	A	3: 28,120,812	D86E	probably damaging	Het
Plpp1	A	G	13: 112,856,899	T122A	probably benign	Het
Prkag3	A	G	1: 74,740,724	I484T	probably benign	Het
Prl7d1	T	A	13: 27,712,083	I104F	probably damaging	Het
Prr14l	A	G	5: 32,827,532	S1540P	probably damaging	Het
Pyroxd1	T	G	6: 142,354,731	S196A	probably benign	Het
Rbm42	G	A	7: 30,645,705	P185S	unknown	Het
Ror2	T	A	13: 53,111,164	I619F	probably damaging	Het
Slitrk4	T	G	X: 64,270,949	E704A	probably benign	Het
Sycp1	A	G	3: 102,865,114	V626A	probably benign	Het
Ugt1a6b	T	A	1: 88,107,805		probably benign	Het
Ulk4	T	A	9: 121,141,831		probably null	Het
Zfp618	G	T	4: 63,133,536	K758N	probably damaging	Het
Zfp819	G	T	7: 43,612,110		probably null	Het

Other mutations in Trmt44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Trmt44	APN	5	35568803	missense	possibly damaging	0.61
IGL02223:Trmt44	APN	5	35574645	missense	probably benign	0.00
IGL02273:Trmt44	APN	5	35574113	missense	probably damaging	1.00
IGL02667:Trmt44	APN	5	35571052	missense	probably damaging	1.00
IGL03144:Trmt44	APN	5	35564422	missense	probably benign	0.27
R0207:Trmt44	UTSW	5	35572917	missense	possibly damaging	0.95
R0540:Trmt44	UTSW	5	35568759	critical splice donor site	probably null
R0607:Trmt44	UTSW	5	35568759	critical splice donor site	probably null
R1681:Trmt44	UTSW	5	35569977	missense	probably benign	0.13
R1746:Trmt44	UTSW	5	35564059	missense	probably benign	0.00
R2128:Trmt44	UTSW	5	35574832	missense	probably benign	0.05
R4190:Trmt44	UTSW	5	35574970	missense	possibly damaging	0.60
R4611:Trmt44	UTSW	5	35575007	missense	probably benign	0.13
R4684:Trmt44	UTSW	5	35558043	missense	probably benign	0.07
R5114:Trmt44	UTSW	5	35565468	missense	possibly damaging	0.67
R5951:Trmt44	UTSW	5	35572688	unclassified	probably benign
R6125:Trmt44	UTSW	5	35565498	missense	probably damaging	1.00
R7131:Trmt44	UTSW	5	35571066	missense	probably damaging	1.00
R7239:Trmt44	UTSW	5	35574786	missense	probably benign	0.00
R7265:Trmt44	UTSW	5	35564303	missense	probably benign	0.13
R7561:Trmt44	UTSW	5	35557992	missense	possibly damaging	0.47
R8543:Trmt44	UTSW	5	35575030	missense	probably benign	0.01
R8552:Trmt44	UTSW	5	35565400	missense	probably benign	0.04
R8560:Trmt44	UTSW	5	35557951	missense	probably benign	0.00
R8850:Trmt44	UTSW	5	35564329	missense	probably benign	0.02
R9209:Trmt44	UTSW	5	35574078	critical splice donor site	probably null
R9330:Trmt44	UTSW	5	35569920	missense	probably damaging	1.00
R9588:Trmt44	UTSW	5	35569912	missense	probably damaging	1.00

Posted On

2015-04-16