Mutagenetix > Incidental Mutation

Incidental Mutation 'R8552:Trmt44'

659897

Institutional Source

Beutler Lab

Gene Symbol

Trmt44

Ensembl Gene

ENSMUSG00000029097

Gene Name

tRNA methyltransferase 44

Synonyms

2310079F23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R8552 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35713547-35732414 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35722744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 441 (H441Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030980 (fasta)

Gene Model

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

AlphaFold

Q9D2Q2

Predicted Effect

probably benign
Transcript: ENSMUST00000030980
AA Change: H441Q

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000030980
Gene: ENSMUSG00000029097
AA Change: H441Q

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	A	G	6: 58,646,210 (GRCm39)	H242R	possibly damaging	Het
Adam1b	G	T	5: 121,639,504 (GRCm39)	R514S	probably benign	Het
Adprs	A	G	4: 126,210,368 (GRCm39)	*371Q	probably null	Het
Arid4a	T	C	12: 71,106,849 (GRCm39)	L307P	probably benign	Het
Armc12	C	T	17: 28,757,675 (GRCm39)	A269V	probably benign	Het
Asb1	T	A	1: 91,480,078 (GRCm39)	V259E	probably damaging	Het
Atm	T	C	9: 53,435,797 (GRCm39)	Y171C	probably damaging	Het
Atp8a2	A	T	14: 60,011,431 (GRCm39)	F959L	probably benign	Het
B4galt3	G	T	1: 171,101,917 (GRCm39)	E34D	possibly damaging	Het
Cacna1i	A	G	15: 80,204,598 (GRCm39)	N90S	possibly damaging	Het
Cdc42ep2	T	A	19: 5,968,060 (GRCm39)	*215L	probably null	Het
Cep162	C	T	9: 87,126,361 (GRCm39)	E184K	probably benign	Het
Cnga3	C	T	1: 37,284,060 (GRCm39)	P121L	probably benign	Het
Cpt1b	G	A	15: 89,306,524 (GRCm39)	R285C	probably damaging	Het
Defb18	T	C	1: 18,306,791 (GRCm39)	Y55C	probably damaging	Het
Depdc1b	C	T	13: 108,493,959 (GRCm39)	P116S	probably damaging	Het
Dhx16	C	T	17: 36,192,183 (GRCm39)	A74V	possibly damaging	Het
Dnajc21	A	T	15: 10,464,005 (GRCm39)	Y53*	probably null	Het
Dse	T	C	10: 34,028,316 (GRCm39)	R925G	possibly damaging	Het
Dsp	C	T	13: 38,369,117 (GRCm39)	L738F	probably damaging	Het
Erv3	T	C	2: 131,698,261 (GRCm39)	K33E	possibly damaging	Het
Gas2l2	T	A	11: 83,312,907 (GRCm39)	T802S	probably benign	Het
Gdf9	T	C	11: 53,324,378 (GRCm39)	L49S	possibly damaging	Het
Gigyf1	G	T	5: 137,521,401 (GRCm39)		probably benign	Het
Gm4792	T	A	10: 94,131,061 (GRCm39)	I83L	unknown	Het
Ighv9-3	A	G	12: 114,104,349 (GRCm39)	L105P	probably damaging	Het
Krtap5-1	C	A	7: 141,850,160 (GRCm39)	W189L	probably null	Het
Krtap5-3	T	A	7: 141,756,089 (GRCm39)		probably benign	Het
Lrp1b	T	A	2: 41,298,993 (GRCm39)	E108D	probably benign	Het
Lrrc66	G	A	5: 73,768,228 (GRCm39)	P238S	probably benign	Het
Ms4a4c	C	T	19: 11,392,196 (GRCm39)	Q6*	probably null	Het
Or5b97	A	G	19: 12,879,096 (GRCm39)	L16P	probably damaging	Het
Or6d14	G	T	6: 116,534,289 (GRCm39)	R301L	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pinx1	A	G	14: 64,156,972 (GRCm39)	R300G	probably benign	Het
Pkd1	T	A	17: 24,810,443 (GRCm39)	H92Q	probably damaging	Het
Rad54l2	T	A	9: 106,570,777 (GRCm39)	Q1181L	possibly damaging	Het
Rbl1	A	T	2: 157,038,174 (GRCm39)	V131E	probably damaging	Het
Rbp3	A	G	14: 33,677,621 (GRCm39)	E523G	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Slc22a20	C	A	19: 6,035,698 (GRCm39)	C130F	probably damaging	Het
Smcr8	T	C	11: 60,670,979 (GRCm39)	L709S	probably damaging	Het
Spef2	A	G	15: 9,600,765 (GRCm39)		probably benign	Het
Teddm1b	T	A	1: 153,750,194 (GRCm39)	M1K	probably null	Het
Tes	A	G	6: 17,097,327 (GRCm39)	Y60C	probably damaging	Het
Tmem104	T	C	11: 115,088,144 (GRCm39)	L43P	probably damaging	Het
Tnfaip3	T	C	10: 18,880,213 (GRCm39)	E618G	probably damaging	Het
Tnfaip3	T	C	10: 18,880,414 (GRCm39)	D551G	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Trim30b	T	A	7: 104,015,236 (GRCm39)	T51S	probably benign	Het
Tshr	C	A	12: 91,504,059 (GRCm39)	D332E	probably benign	Het
Usp10	C	T	8: 120,683,367 (GRCm39)	T746M	possibly damaging	Het
Vmn1r8	A	T	6: 57,013,138 (GRCm39)	D63V	possibly damaging	Het
Vps13a	A	C	19: 16,731,684 (GRCm39)	L143V	probably damaging	Het
Wnt3a	T	A	11: 59,166,043 (GRCm39)	H79L	probably damaging	Het
Zbtb7a	C	T	10: 80,980,141 (GRCm39)	R112W	probably damaging	Het

Other mutations in Trmt44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Trmt44	APN	5	35,726,147 (GRCm39)	missense	possibly damaging	0.61
IGL02139:Trmt44	APN	5	35,726,143 (GRCm39)	nonsense	probably null
IGL02223:Trmt44	APN	5	35,731,989 (GRCm39)	missense	probably benign	0.00
IGL02273:Trmt44	APN	5	35,731,457 (GRCm39)	missense	probably damaging	1.00
IGL02667:Trmt44	APN	5	35,728,396 (GRCm39)	missense	probably damaging	1.00
IGL03144:Trmt44	APN	5	35,721,766 (GRCm39)	missense	probably benign	0.27
R0207:Trmt44	UTSW	5	35,730,261 (GRCm39)	missense	possibly damaging	0.95
R0540:Trmt44	UTSW	5	35,726,103 (GRCm39)	critical splice donor site	probably null
R0607:Trmt44	UTSW	5	35,726,103 (GRCm39)	critical splice donor site	probably null
R1681:Trmt44	UTSW	5	35,727,321 (GRCm39)	missense	probably benign	0.13
R1746:Trmt44	UTSW	5	35,721,403 (GRCm39)	missense	probably benign	0.00
R2128:Trmt44	UTSW	5	35,732,176 (GRCm39)	missense	probably benign	0.05
R4190:Trmt44	UTSW	5	35,732,314 (GRCm39)	missense	possibly damaging	0.60
R4611:Trmt44	UTSW	5	35,732,351 (GRCm39)	missense	probably benign	0.13
R4684:Trmt44	UTSW	5	35,715,387 (GRCm39)	missense	probably benign	0.07
R5114:Trmt44	UTSW	5	35,722,812 (GRCm39)	missense	possibly damaging	0.67
R5951:Trmt44	UTSW	5	35,730,032 (GRCm39)	unclassified	probably benign
R6125:Trmt44	UTSW	5	35,722,842 (GRCm39)	missense	probably damaging	1.00
R7131:Trmt44	UTSW	5	35,728,410 (GRCm39)	missense	probably damaging	1.00
R7239:Trmt44	UTSW	5	35,732,130 (GRCm39)	missense	probably benign	0.00
R7265:Trmt44	UTSW	5	35,721,647 (GRCm39)	missense	probably benign	0.13
R7561:Trmt44	UTSW	5	35,715,336 (GRCm39)	missense	possibly damaging	0.47
R8543:Trmt44	UTSW	5	35,732,374 (GRCm39)	missense	probably benign	0.01
R8560:Trmt44	UTSW	5	35,715,295 (GRCm39)	missense	probably benign	0.00
R8850:Trmt44	UTSW	5	35,721,673 (GRCm39)	missense	probably benign	0.02
R9209:Trmt44	UTSW	5	35,731,422 (GRCm39)	critical splice donor site	probably null
R9330:Trmt44	UTSW	5	35,727,264 (GRCm39)	missense	probably damaging	1.00
R9588:Trmt44	UTSW	5	35,727,256 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGTAAAACTTCGGCTGTG -3'
(R):5'- GAAGATGTCCTCGGCTTCCTTC -3'

Sequencing Primer
(F):5'- TTCGGCTGTGAAACACAAGTCTC -3'
(R):5'- CGGCTTCCTTCTTCTTCAGG -3'

Posted On

2021-01-18