Mutagenetix > Incidental Mutation

Incidental Mutation 'R6526:Trmt13'

521810

Institutional Source

Beutler Lab

Gene Symbol

Trmt13

Ensembl Gene

ENSMUSG00000033439

Gene Name

tRNA methyltransferase 13

Synonyms

A930028L21Rik, Ccdc76, 4631408H19Rik

MMRRC Submission

044652-MU

Accession Numbers

Essential gene?

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

Stock #

R6526 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116374742-116408236 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116385864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 31 (N31I)

Ref Sequence

ENSEMBL: ENSMUSP00000143637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029571] [ENSMUST00000041524] [ENSMUST00000134761] [ENSMUST00000183638] [ENSMUST00000184963] [ENSMUST00000197190] [ENSMUST00000198386] [ENSMUST00000198454] [ENSMUST00000197335] [ENSMUST00000198311]

AlphaFold

Q8BYH3

Predicted Effect

probably benign
Transcript: ENSMUST00000029571

SMART Domains

Protein: ENSMUSP00000029571
Gene: ENSMUSG00000027959

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:SAS-6_N	44	141	1.7e-29	PFAM
low complexity region	223	235	N/A	INTRINSIC
coiled coil region	415	471	N/A	INTRINSIC
low complexity region	632	644	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000041524
AA Change: N80I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047320
Gene: ENSMUSG00000033439
AA Change: N80I

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

noncoding transcript
Transcript: ENSMUST00000124807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126546

Predicted Effect

probably damaging
Transcript: ENSMUST00000134761
AA Change: N41I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138761
Gene: ENSMUSG00000033439
AA Change: N41I

Domain	Start	End	E-Value	Type
Pfam:zf-U11-48K	16	42	1.6e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156161

Predicted Effect

probably damaging
Transcript: ENSMUST00000183638
AA Change: N80I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139223
Gene: ENSMUSG00000033439
AA Change: N80I

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: N80I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138868
Gene: ENSMUSG00000033439
AA Change: N80I

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 damaging
Transcript: ENSMUST00000197190
AA Change: N31I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143637
Gene: ENSMUSG00000033439
AA Change: N31I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198514

Predicted Effect

probably benign
Transcript: ENSMUST00000198386

SMART Domains

Protein: ENSMUSP00000143175
Gene: ENSMUSG00000027959

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
PDB:2Y3W\|C	15	171	1e-62	PDB
low complexity region	223	235	N/A	INTRINSIC
coiled coil region	415	471	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198454

SMART Domains

Protein: ENSMUSP00000142410
Gene: ENSMUSG00000033439

Domain	Start	End	E-Value	Type
Pfam:zf-TRM13_CCCH	16	46	1.9e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197335

SMART Domains

Protein: ENSMUSP00000143123
Gene: ENSMUSG00000027959

Domain	Start	End	E-Value	Type
PDB:2Y3W\|C	7	136	3e-48	PDB
low complexity region	188	200	N/A	INTRINSIC
coiled coil region	380	436	N/A	INTRINSIC
low complexity region	597	609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198311

SMART Domains

Protein: ENSMUSP00000143233
Gene: ENSMUSG00000027959

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
PDB:2Y3W\|C	15	171	9e-62	PDB
low complexity region	223	235	N/A	INTRINSIC
coiled coil region	415	471	N/A	INTRINSIC
low complexity region	632	644	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.5%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,323,331 (GRCm39)		probably null	Het
Abcc3	C	T	11: 94,250,198 (GRCm39)	G975D	probably benign	Het
Abhd13	G	A	8: 10,037,777 (GRCm39)	G125S	probably damaging	Het
Ache	T	A	5: 137,288,906 (GRCm39)	L204Q	probably damaging	Het
Acnat2	A	G	4: 49,383,497 (GRCm39)	S19P	probably benign	Het
Adprh	A	G	16: 38,267,638 (GRCm39)	Y216H	probably benign	Het
Anapc1	T	A	2: 128,514,055 (GRCm39)	K429*	probably null	Het
Anxa13	T	C	15: 58,208,353 (GRCm39)		noncoding transcript	Het
Aprt	A	C	8: 123,303,555 (GRCm39)	L6W	probably damaging	Het
Arhgef15	T	C	11: 68,840,820 (GRCm39)	T569A	probably damaging	Het
Atp11a	T	C	8: 12,914,999 (GRCm39)	L1139P	probably benign	Het
Atp2b4	A	G	1: 133,639,467 (GRCm39)	S1136P	probably damaging	Het
B9d1	T	A	11: 61,399,923 (GRCm39)	Y90*	probably null	Het
Btla	G	A	16: 45,059,457 (GRCm39)	A54T	probably damaging	Het
Cd63	T	C	10: 128,747,358 (GRCm39)	V35A	probably benign	Het
Chek2	T	C	5: 110,996,556 (GRCm39)	F173L	probably damaging	Het
Cntnap3	T	A	13: 64,929,702 (GRCm39)	N499I	possibly damaging	Het
Cog4	T	C	8: 111,608,418 (GRCm39)	L738P	probably damaging	Het
Cops6	T	C	5: 138,162,162 (GRCm39)		probably null	Het
Cpeb1	T	A	7: 81,011,417 (GRCm39)	I175F	probably benign	Het
Cyp3a16	C	T	5: 145,392,705 (GRCm39)	D174N	probably benign	Het
Dnah6	T	G	6: 73,051,687 (GRCm39)	I2984L	probably benign	Het
Dock10	A	T	1: 80,564,068 (GRCm39)	I540N	probably damaging	Het
Elf5	A	G	2: 103,269,578 (GRCm39)	Y53C	probably damaging	Het
Elmod2	T	C	8: 84,046,086 (GRCm39)	T164A	probably damaging	Het
Elp1	T	C	4: 56,798,812 (GRCm39)		probably null	Het
Epn3	A	G	11: 94,385,758 (GRCm39)		probably null	Het
Fam151a	A	T	4: 106,591,201 (GRCm39)	I15F	possibly damaging	Het
Gm11115	T	A	5: 88,301,909 (GRCm39)		probably null	Het
Golga3	T	A	5: 110,352,761 (GRCm39)	I884N	probably damaging	Het
Gria2	A	T	3: 80,599,776 (GRCm39)	F703I	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gtpbp2	A	T	17: 46,475,037 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,807,078 (GRCm39)	S2419P	probably damaging	Het
Inpp5d	T	C	1: 87,603,972 (GRCm39)		probably benign	Het
Kdm2b	C	A	5: 123,099,532 (GRCm39)	V136F	probably damaging	Het
Klra2	T	A	6: 131,198,839 (GRCm39)	D234V	probably benign	Het
Lct	A	T	1: 128,228,215 (GRCm39)	S1093T	probably benign	Het
Marchf9	A	G	10: 126,892,558 (GRCm39)	L310P	probably benign	Het
Morc1	G	T	16: 48,407,487 (GRCm39)	E668*	probably null	Het
Nbas	A	T	12: 13,455,426 (GRCm39)	L1213F	probably damaging	Het
Neto1	A	G	18: 86,516,873 (GRCm39)	T397A	possibly damaging	Het
Oit3	A	G	10: 59,265,462 (GRCm39)	C268R	probably damaging	Het
Or5p55	A	G	7: 107,566,669 (GRCm39)	T22A	probably benign	Het
Pcx	T	C	19: 4,654,523 (GRCm39)	F312L	probably benign	Het
Pitx2	T	C	3: 129,008,432 (GRCm39)		probably null	Het
Pkhd1l1	G	A	15: 44,361,485 (GRCm39)		probably null	Het
Polr1a	C	A	6: 71,906,427 (GRCm39)	D414E	possibly damaging	Het
Pramel27	A	G	4: 143,579,384 (GRCm39)	D323G	probably damaging	Het
Prkch	T	C	12: 73,749,549 (GRCm39)	Y381H	probably damaging	Het
Ptger3	T	A	3: 157,273,139 (GRCm39)	V162E	probably damaging	Het
Ptgr2	T	G	12: 84,360,726 (GRCm39)	M332R	probably damaging	Het
Ptprq	G	T	10: 107,378,514 (GRCm39)	S2009*	probably null	Het
Pwwp3a	A	G	10: 80,068,113 (GRCm39)	T86A	probably benign	Het
Rangrf	C	T	11: 68,864,514 (GRCm39)	G11R	probably damaging	Het
Rbl2	A	T	8: 91,823,467 (GRCm39)	Q465L	probably benign	Het
Rhbdd1	A	T	1: 82,318,380 (GRCm39)	M88L	probably benign	Het
Setd2	G	A	9: 110,361,785 (GRCm39)	M13I	probably benign	Het
Sirpb1a	T	C	3: 15,444,080 (GRCm39)	Y384C	probably damaging	Het
Slc13a1	C	T	6: 24,097,611 (GRCm39)	G439S	probably damaging	Het
Slc41a1	T	A	1: 131,768,887 (GRCm39)	I239N	probably damaging	Het
Slit2	T	A	5: 48,461,509 (GRCm39)	C1502S	probably damaging	Het
Slit3	G	A	11: 35,552,119 (GRCm39)	E888K	probably benign	Het
Srrm3	G	T	5: 135,864,088 (GRCm39)	R62L	probably damaging	Het
Synm	A	G	7: 67,385,331 (GRCm39)	V777A	possibly damaging	Het
Trpm8	G	A	1: 88,289,720 (GRCm39)	E893K	probably damaging	Het
Uqcc1	A	G	2: 155,693,343 (GRCm39)	F197S	probably damaging	Het
Vmn1r67	T	A	7: 10,181,598 (GRCm39)	N287K	probably benign	Het
Vmn2r44	A	T	7: 8,381,098 (GRCm39)	M265K	probably benign	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Xdh	C	A	17: 74,207,546 (GRCm39)	C937F	probably damaging	Het
Zfp846	T	A	9: 20,505,167 (GRCm39)	N342K	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
R7064:Trmt13	UTSW	3	116,376,346 (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'- GCAGCCTAAGTAATGCAGCAC -3'
(R):5'- CTCGGAAAAGAATCTTGTGTCC -3'

Sequencing Primer
(F):5'- TGGGCTACACAGTGTAACCTG -3'
(R):5'- CGGAAAAGAATCTTGTGTCCTTTAG -3'

Posted On

2018-06-06