Mutagenetix > Incidental Mutation

Incidental Mutation 'R8850:Trmt44'

674937

Institutional Source

Beutler Lab

Gene Symbol

Trmt44

Ensembl Gene

ENSMUSG00000029097

Gene Name

tRNA methyltransferase 44

Synonyms

2310079F23Rik

MMRRC Submission

068673-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R8850 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35713547-35732414 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35721673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 497 (P497S)

Ref Sequence

ENSEMBL: ENSMUSP00000030980 (fasta)

Gene Model

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

AlphaFold

Q9D2Q2

Predicted Effect

probably benign
Transcript: ENSMUST00000030980
AA Change: P497S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000030980
Gene: ENSMUSG00000029097
AA Change: P497S

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	G	A	12: 70,989,032 (GRCm39)		probably null	Het
Adgrd1	A	G	5: 129,219,574 (GRCm39)	K465E	probably benign	Het
Aktip	A	T	8: 91,853,402 (GRCm39)	V105E	probably benign	Het
Ankrd7	A	G	6: 18,870,006 (GRCm39)	Y253C	probably damaging	Het
Bag6	T	C	17: 35,361,041 (GRCm39)	M440T	unknown	Het
Camk2b	T	A	11: 5,922,838 (GRCm39)	N426Y	probably damaging	Het
Ccdc82	T	A	9: 13,289,706 (GRCm39)	Y500*	probably null	Het
Cenpe	T	A	3: 134,930,777 (GRCm39)	D341E	probably damaging	Het
Cyp2j13	A	T	4: 95,956,428 (GRCm39)	M227K	probably benign	Het
Dmbt1	G	A	7: 130,692,134 (GRCm39)	V967I	unknown	Het
Dnmt3b	A	T	2: 153,515,933 (GRCm39)	N447Y	probably benign	Het
Dtl	A	T	1: 191,285,175 (GRCm39)	Y320*	probably null	Het
Dtymk	A	C	1: 93,729,543 (GRCm39)	S3A	probably benign	Het
Eefsec	G	A	6: 88,423,253 (GRCm39)	T70M	possibly damaging	Het
Fam171a1	C	T	2: 3,221,344 (GRCm39)	T270M	probably damaging	Het
Gm17728	T	C	17: 9,641,159 (GRCm39)	S90P	probably benign	Het
Hdlbp	A	G	1: 93,359,053 (GRCm39)	L213P	probably damaging	Het
Heatr5b	T	C	17: 79,109,188 (GRCm39)	I1024V	probably benign	Het
Hr	C	T	14: 70,799,305 (GRCm39)	R597*	probably null	Het
Ifit3	T	C	19: 34,564,988 (GRCm39)	I178T	probably damaging	Het
Ifna6	A	G	4: 88,746,222 (GRCm39)	*190W	probably null	Het
Igkv4-55	A	T	6: 69,584,315 (GRCm39)	M99K	probably benign	Het
Klk1	T	A	7: 43,877,056 (GRCm39)	I53N	probably damaging	Het
Lpcat2b	A	G	5: 107,580,692 (GRCm39)	H7R	probably benign	Het
Lrrc37a	G	A	11: 103,393,481 (GRCm39)	P648L		Het
Mast4	G	T	13: 102,895,174 (GRCm39)	P975H	probably damaging	Het
Mfrp	C	T	9: 44,013,807 (GRCm39)	L106F	probably benign	Het
Mllt10	T	A	2: 18,201,469 (GRCm39)	S652T	probably benign	Het
Mroh8	C	A	2: 157,083,673 (GRCm39)	G400W	probably damaging	Het
Neurl4	A	G	11: 69,794,788 (GRCm39)		probably benign	Het
Nop14	A	C	5: 34,817,352 (GRCm39)	V13G	probably benign	Het
Nup188	T	A	2: 30,217,576 (GRCm39)	L837Q	probably damaging	Het
Or2a54	T	A	6: 43,092,905 (GRCm39)	N76K	possibly damaging	Het
Or2ak5	T	A	11: 58,611,572 (GRCm39)	T101S	probably benign	Het
Or7g30	T	C	9: 19,352,817 (GRCm39)	S203P	probably damaging	Het
Or8k39	T	C	2: 86,563,302 (GRCm39)	Y218C	probably damaging	Het
Pate10	A	G	9: 35,652,391 (GRCm39)	Y16C	probably damaging	Het
Pde8b	A	T	13: 95,226,793 (GRCm39)	V185E	probably benign	Het
Pink1	G	T	4: 138,047,333 (GRCm39)	A247D	probably damaging	Het
Pla2g10	A	T	16: 13,545,914 (GRCm39)	V40D	probably damaging	Het
Plce1	G	A	19: 38,512,811 (GRCm39)	G37R	probably benign	Het
Pld1	A	G	3: 28,166,439 (GRCm39)	E826G	possibly damaging	Het
Poc5	G	T	13: 96,535,228 (GRCm39)	K164N	possibly damaging	Het
Polr2b	A	T	5: 77,463,761 (GRCm39)	M53L	probably benign	Het
Ppp1r10	C	T	17: 36,239,690 (GRCm39)	P470S	probably damaging	Het
Rasef	A	G	4: 73,645,840 (GRCm39)	S510P	probably damaging	Het
Rnf17	T	A	14: 56,722,658 (GRCm39)	L1073Q	probably damaging	Het
Rpl13a-ps1	C	T	19: 50,018,739 (GRCm39)	G146R	probably damaging	Het
Scn2a	A	G	2: 65,518,730 (GRCm39)	D368G	probably damaging	Het
Shc3	T	A	13: 51,634,248 (GRCm39)	S86C	probably benign	Het
Sos1	T	C	17: 80,741,405 (GRCm39)	H460R	probably damaging	Het
Steap1	T	A	5: 5,790,838 (GRCm39)	M37L	probably benign	Het
Themis	G	T	10: 28,673,492 (GRCm39)	C593F	possibly damaging	Het
Tnn	A	G	1: 159,937,814 (GRCm39)		probably null	Het
Trabd	G	T	15: 88,969,667 (GRCm39)		probably benign	Het
Trim42	T	A	9: 97,248,047 (GRCm39)	K216N	probably damaging	Het
Trp53bp2	A	G	1: 182,256,475 (GRCm39)	Y15C	probably damaging	Het
Trpm7	T	A	2: 126,652,100 (GRCm39)	I1458L	probably benign	Het
Ttc17	G	T	2: 94,237,003 (GRCm39)	A3E	possibly damaging	Het
Ttn	C	A	2: 76,704,208 (GRCm39)	V9274L	unknown	Het
Tut7	T	A	13: 59,937,011 (GRCm39)	Q1212L	possibly damaging	Het
Vmn2r105	T	A	17: 20,428,872 (GRCm39)	I735F	probably damaging	Het
Vmn2r22	A	G	6: 123,614,454 (GRCm39)	C379R	probably damaging	Het
Vmn2r97	G	A	17: 19,149,607 (GRCm39)	E332K	probably benign	Het
Xrn1	A	G	9: 95,920,732 (GRCm39)	T1331A	probably benign	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
R8552:Trmt44	UTSW	5	35,722,744 (GRCm39)	missense	probably benign	0.04
R8560:Trmt44	UTSW	5	35,715,295 (GRCm39)	missense	probably benign	0.00
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'- TAACAACAAGTTTGCCACCTGC -3'
(R):5'- GTGTTCCAGCAGTGTTGAAATC -3'

Sequencing Primer
(F):5'- ACTTGGTCAACGAAGTCTCG -3'
(R):5'- CCAGCAGTGTTGAAATCCAATGTC -3'

Posted On

2021-07-15