Mutagenetix > Incidental Mutation

Incidental Mutation 'R7064:Trmt13'

548432

Institutional Source

Beutler Lab

Gene Symbol

Trmt13

Ensembl Gene

ENSMUSG00000033439

Gene Name

tRNA methyltransferase 13

Synonyms

A930028L21Rik, Ccdc76, 4631408H19Rik

MMRRC Submission

045160-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R7064 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116374742-116408236 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116376346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 348 (K348N)

Ref Sequence

ENSEMBL: ENSMUSP00000047320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029573] [ENSMUST00000041524] [ENSMUST00000183638] [ENSMUST00000184963] [ENSMUST00000197190]

AlphaFold

Q8BYH3

Predicted Effect

probably benign
Transcript: ENSMUST00000029573

SMART Domains

Protein: ENSMUSP00000029573
Gene: ENSMUSG00000027961

Domain	Start	End	E-Value	Type
LRR	105	127	1.15e1	SMART
LRR_TYP	128	151	7.26e-3	SMART
LRR	175	197	6.58e0	SMART
LRR	198	220	1e1	SMART
LRR	221	243	7.16e0	SMART
LRR	244	267	6.58e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000041524
AA Change: K348N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000047320
Gene: ENSMUSG00000033439
AA Change: K348N

Domain	Start	End	E-Value	Type
Pfam:zf-TRM13_CCCH	17	45	7.2e-17	PFAM
Pfam:zf-U11-48K	56	80	3.4e-12	PFAM
Pfam:TRM13	165	469	7e-96	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183638

SMART Domains

Protein: ENSMUSP00000139223
Gene: ENSMUSG00000033439

Domain	Start	End	E-Value	Type
Pfam:zf-TRM13_CCCH	16	46	1.4e-17	PFAM
Pfam:zf-U11-48K	55	81	1.2e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000184963
AA Change: K282M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138868
Gene: ENSMUSG00000033439
AA Change: K282M

Domain	Start	End	E-Value	Type
Pfam:zf-TRM13_CCCH	16	46	2.9e-17	PFAM
Pfam:zf-U11-48K	55	81	2.3e-12	PFAM
Pfam:TRM13	165	285	3.4e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197190

SMART Domains

Protein: ENSMUSP00000143637
Gene: ENSMUSG00000033439

Domain	Start	End	E-Value	Type
Pfam:TRM13	116	179	5.2e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,984,746 (GRCm39)	I263T	probably damaging	Het
Adamtsl1	C	T	4: 86,260,278 (GRCm39)	P830S	possibly damaging	Het
Adrb1	T	C	19: 56,711,456 (GRCm39)	F218S	probably damaging	Het
Ahnak2	T	C	12: 112,746,919 (GRCm39)		probably benign	Het
Arsj	T	A	3: 126,231,986 (GRCm39)	V244E	probably damaging	Het
Atm	T	C	9: 53,419,181 (GRCm39)	E757G	probably benign	Het
AU040320	A	G	4: 126,685,865 (GRCm39)	D147G	probably benign	Het
Btnl10	A	T	11: 58,810,134 (GRCm39)	M92L	possibly damaging	Het
Chd6	T	C	2: 160,791,983 (GRCm39)	D2458G	probably damaging	Het
Cntn3	T	C	6: 102,250,772 (GRCm39)	I259V	probably damaging	Het
Ctns	A	G	11: 73,077,218 (GRCm39)	V250A	probably benign	Het
Cxxc1	T	A	18: 74,353,678 (GRCm39)		probably null	Het
Cyp2a4	A	T	7: 26,011,732 (GRCm39)	M318L	probably benign	Het
Dchs1	A	G	7: 105,412,392 (GRCm39)	L1302P	probably damaging	Het
Decr1	C	A	4: 15,945,392 (GRCm39)			Het
Dmbx1	T	C	4: 115,775,465 (GRCm39)	N272D	probably damaging	Het
Dsel	C	A	1: 111,790,577 (GRCm39)		probably benign	Het
Dspp	A	C	5: 104,324,804 (GRCm39)	D389A	possibly damaging	Het
Ero1a	T	C	14: 45,544,049 (GRCm39)	T52A	probably damaging	Het
Fam186a	T	C	15: 99,839,557 (GRCm39)	E2229G	unknown	Het
Gabrd	C	T	4: 155,472,803 (GRCm39)	V127M	probably damaging	Het
Gpc2	A	T	5: 138,277,172 (GRCm39)	F85Y	probably damaging	Het
Gucy2g	A	G	19: 55,198,764 (GRCm39)	L793S	probably benign	Het
Irag1	C	G	7: 110,495,061 (GRCm39)	E455Q	probably damaging	Het
Itpr3	G	C	17: 27,308,269 (GRCm39)	G298R	probably damaging	Het
Kalrn	A	T	16: 34,038,261 (GRCm39)	C1024S	probably damaging	Het
Krt40	T	C	11: 99,430,954 (GRCm39)	Y185C	probably benign	Het
Lmo7	G	A	14: 102,121,615 (GRCm39)	D227N	probably damaging	Het
Mmrn1	T	A	6: 60,965,524 (GRCm39)	L1184*	probably null	Het
Or10s1	T	A	9: 39,986,109 (GRCm39)	Y173N	probably damaging	Het
Or14j2	T	A	17: 37,885,634 (GRCm39)	R227W	probably damaging	Het
Or4c15	T	A	2: 88,759,853 (GRCm39)	M269L	probably benign	Het
Parp9	T	G	16: 35,774,042 (GRCm39)	V338G	probably benign	Het
Pcdh15	G	A	10: 74,466,446 (GRCm39)	E888K	possibly damaging	Het
Pcdh9	C	T	14: 94,123,585 (GRCm39)	E862K	probably damaging	Het
Prkdc	A	G	16: 15,608,317 (GRCm39)	T3040A	probably benign	Het
Qser1	T	C	2: 104,617,464 (GRCm39)	E1026G	probably damaging	Het
Rnf20	C	T	4: 49,644,580 (GRCm39)	R282*	probably null	Het
Rpgrip1l	T	A	8: 91,990,148 (GRCm39)	K765*	probably null	Het
Rprd2	G	A	3: 95,672,328 (GRCm39)	T1025M	probably damaging	Het
Scn4a	A	G	11: 106,212,983 (GRCm39)	Y1341H	possibly damaging	Het
Scn5a	C	G	9: 119,318,977 (GRCm39)	D1554H	probably damaging	Het
Septin14	T	C	5: 129,774,870 (GRCm39)	I102V	probably benign	Het
Septin4	A	G	11: 87,481,193 (GRCm39)	T378A	probably benign	Het
Siglec1	C	T	2: 130,925,834 (GRCm39)	G291R	probably benign	Het
Sik2	A	G	9: 50,818,720 (GRCm39)	V418A	probably damaging	Het
Slc9a5	A	G	8: 106,076,078 (GRCm39)	T24A	possibly damaging	Het
Spata31d1b	T	C	13: 59,863,955 (GRCm39)	S368P	probably benign	Het
Stip1	T	C	19: 7,012,925 (GRCm39)	D53G	probably benign	Het
Stk36	T	C	1: 74,649,979 (GRCm39)	W245R	probably damaging	Het
Stk39	A	T	2: 68,189,156 (GRCm39)		probably null	Het
Tacr2	T	C	10: 62,097,276 (GRCm39)	M252T	probably damaging	Het
Tasor	C	T	14: 27,194,288 (GRCm39)	P1163S	probably benign	Het
Terb1	A	T	8: 105,215,186 (GRCm39)	N263K	probably benign	Het
Tgm5	T	C	2: 120,883,995 (GRCm39)	M333V	probably benign	Het
Tmem45a	T	C	16: 56,642,767 (GRCm39)	M135V	probably benign	Het
Trmt2a	A	T	16: 18,070,868 (GRCm39)	M534L	probably damaging	Het
Ttll13	G	A	7: 79,906,778 (GRCm39)	R513K	probably null	Het
Vmn1r228	T	A	17: 20,997,285 (GRCm39)	I78L	probably benign	Het
Washc3	T	C	10: 88,081,635 (GRCm39)	V173A	possibly damaging	Het
Zc2hc1b	A	T	10: 13,047,049 (GRCm39)	C21S	probably damaging	Het
Zfp944	T	A	17: 22,558,560 (GRCm39)	H229L	probably damaging	Het
Zfp985	T	A	4: 147,667,573 (GRCm39)	I147N	probably benign	Het

Other mutations in Trmt13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Trmt13	APN	3	116,383,884 (GRCm39)	nonsense	probably null
IGL01516:Trmt13	APN	3	116,383,459 (GRCm39)	unclassified	probably benign
IGL01732:Trmt13	APN	3	116,375,113 (GRCm39)	missense	probably damaging	1.00
IGL01783:Trmt13	APN	3	116,376,561 (GRCm39)	nonsense	probably null
IGL02470:Trmt13	APN	3	116,383,877 (GRCm39)	critical splice donor site	probably null
IGL02492:Trmt13	APN	3	116,376,192 (GRCm39)	missense	possibly damaging	0.53
IGL02531:Trmt13	APN	3	116,385,840 (GRCm39)	critical splice donor site	probably null
IGL03156:Trmt13	APN	3	116,379,451 (GRCm39)	missense	probably benign	0.00
R0394:Trmt13	UTSW	3	116,376,299 (GRCm39)	missense	probably damaging	1.00
R0446:Trmt13	UTSW	3	116,376,275 (GRCm39)	missense	probably damaging	1.00
R2211:Trmt13	UTSW	3	116,388,403 (GRCm39)	missense	probably benign	0.00
R2942:Trmt13	UTSW	3	116,379,421 (GRCm39)	missense	probably damaging	1.00
R3124:Trmt13	UTSW	3	116,383,893 (GRCm39)	missense	probably benign	0.00
R3945:Trmt13	UTSW	3	116,375,167 (GRCm39)	missense	probably damaging	1.00
R3946:Trmt13	UTSW	3	116,375,167 (GRCm39)	missense	probably damaging	1.00
R4255:Trmt13	UTSW	3	116,376,337 (GRCm39)	nonsense	probably null
R4520:Trmt13	UTSW	3	116,375,262 (GRCm39)	splice site	probably null
R4609:Trmt13	UTSW	3	116,388,476 (GRCm39)	utr 5 prime	probably benign
R4678:Trmt13	UTSW	3	116,383,404 (GRCm39)	missense	probably damaging	1.00
R4679:Trmt13	UTSW	3	116,383,404 (GRCm39)	missense	probably damaging	1.00
R4703:Trmt13	UTSW	3	116,388,247 (GRCm39)	missense	probably benign	0.00
R6526:Trmt13	UTSW	3	116,385,864 (GRCm39)	missense	probably damaging	1.00
R7079:Trmt13	UTSW	3	116,376,480 (GRCm39)	missense	probably benign	0.00
R7308:Trmt13	UTSW	3	116,388,388 (GRCm39)	missense	probably benign	0.09
R8347:Trmt13	UTSW	3	116,376,417 (GRCm39)	missense	probably benign	0.00
R8491:Trmt13	UTSW	3	116,376,228 (GRCm39)	missense	probably benign
R8544:Trmt13	UTSW	3	116,386,094 (GRCm39)	splice site	probably null
R9108:Trmt13	UTSW	3	116,375,129 (GRCm39)	missense	probably damaging	1.00
R9208:Trmt13	UTSW	3	116,376,356 (GRCm39)	missense	possibly damaging	0.95
R9492:Trmt13	UTSW	3	116,388,281 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- ACCCAGGCAAACTGTCAGTG -3'
(R):5'- GCTGCCAGTTTTGAGGAAAAGG -3'

Sequencing Primer
(F):5'- GCAAACTGTCAGTGTTGCC -3'
(R):5'- GGATGAAGAACCTTTAGCCAAACGC -3'

Posted On

2019-05-13