Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03144:Trmt44'

410820

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: 0.084) question?

Stock #

IGL03144

Quality Score

Status

Chromosome

Chromosomal Location

35556203-35575070 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35564422 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 466 (P466T)

Ref Sequence

ENSEMBL: ENSMUSP00000030980 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030980
AA Change: P466T

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030980
Gene: ENSMUSG00000029097
AA Change: P466T

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	A	17: 24,381,964	Q451K	probably benign	Het
Acly	A	T	11: 100,515,083	D294E	possibly damaging	Het
Arid3a	C	T	10: 79,946,482		probably benign	Het
Ascc3	T	C	10: 50,767,443	V1830A	probably benign	Het
Atp6v1b1	T	C	6: 83,758,351	V467A	probably benign	Het
Ccdc171	A	T	4: 83,818,090	I1233L	probably damaging	Het
Ccdc74a	C	A	16: 17,648,866	Q146K	possibly damaging	Het
Cdh26	A	G	2: 178,468,174	D420G	probably damaging	Het
Ceacam20	T	C	7: 19,971,519	V145A	possibly damaging	Het
Cmya5	C	A	13: 93,090,868	A2571S	probably damaging	Het
Cog2	T	C	8: 124,541,024	S360P	probably damaging	Het
Col26a1	G	T	5: 136,765,348	T132N	probably damaging	Het
Col6a2	T	A	10: 76,614,425	H224L	probably benign	Het
Cpm	C	T	10: 117,683,414	S409L	probably benign	Het
Dock4	G	T	12: 40,692,907		probably benign	Het
Dpy19l2	T	A	9: 24,646,307	N391Y	possibly damaging	Het
Exosc9	G	A	3: 36,554,135	G126D	probably damaging	Het
Eya3	T	C	4: 132,693,142	S256P	probably benign	Het
Fat3	T	C	9: 16,375,245	D994G	probably damaging	Het
Fat4	A	G	3: 38,956,859	Q2036R	possibly damaging	Het
Fryl	T	C	5: 73,101,455	Q662R	probably null	Het
Gm13271	A	G	4: 88,755,399	R178G	probably benign	Het
Gpr165	T	A	X: 96,716,954	L279Q	probably damaging	Het
Htr1b	A	G	9: 81,631,945	L203P	probably damaging	Het
Kcnb2	T	C	1: 15,709,888	L328P	probably damaging	Het
Klhl26	C	T	8: 70,452,564	R198H	probably damaging	Het
Nhsl2	A	G	X: 102,079,509	R973G	possibly damaging	Het
Nmi	A	T	2: 51,952,534	F182Y	probably damaging	Het
Nop2	T	A	6: 125,137,512		probably null	Het
Nrn1	C	A	13: 36,730,106		probably null	Het
Olfr50	A	G	2: 36,794,081	T282A	probably benign	Het
Ooep	G	T	9: 78,378,007	A109E	possibly damaging	Het
Pan3	T	C	5: 147,450,781		probably benign	Het
Pcdhb6	A	G	18: 37,334,406	N127D	probably damaging	Het
Rabgap1	G	A	2: 37,540,532	R695H	probably damaging	Het
Rxrg	G	A	1: 167,598,758	G3R	possibly damaging	Het
Slc17a3	T	C	13: 23,846,440	M178T	probably benign	Het
Slc39a8	A	G	3: 135,884,210	E287G	probably benign	Het
Slc44a5	G	T	3: 154,243,540	D217Y	possibly damaging	Het
Slc4a10	G	T	2: 62,250,466	V346L	probably benign	Het
Slc9a4	T	C	1: 40,612,202	Y547H	probably damaging	Het
St6galnac3	A	C	3: 153,205,527	Y266D	probably damaging	Het
Stard6	A	T	18: 70,476,111	Y3F	possibly damaging	Het
Stk25	C	A	1: 93,629,136	L53F	probably damaging	Het
Tep1	A	T	14: 50,844,017		probably benign	Het
Tmem151a	T	A	19: 5,085,372	M1L	probably benign	Het
Trim10	T	C	17: 36,876,848	S319P	probably damaging	Het
Unc79	T	C	12: 103,042,142	I256T	probably damaging	Het
Vmn2r125	G	T	4: 156,350,019	L33F	possibly damaging	Het

Other mutations in Trmt44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Trmt44	APN	5	35568803	missense	possibly damaging	0.61
IGL02139:Trmt44	APN	5	35568799	nonsense	probably null
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
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

Posted On

2016-08-02