Mutagenetix > Incidental Mutations

Incidental Mutation 'R5855:Trmo'

454854

Institutional Source

Beutler Lab

Gene Symbol

Trmo

Ensembl Gene

ENSMUSG00000028331

Gene Name

tRNA methyltransferase O

Synonyms

5830415F09Rik

MMRRC Submission

043229-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5855 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46376505-46389437 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46382568 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 183 (H183L)

Ref Sequence

ENSEMBL: ENSMUSP00000119785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030015] [ENSMUST00000086563] [ENSMUST00000151903]

AlphaFold

Q562D6

Predicted Effect

probably benign
Transcript: ENSMUST00000030015
AA Change: H176L

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030015
Gene: ENSMUSG00000028331
AA Change: H176L

Domain	Start	End	E-Value	Type
Pfam:UPF0066	42	165	2.3e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086563
AA Change: H176L

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000083752
Gene: ENSMUSG00000028331
AA Change: H176L

Domain	Start	End	E-Value	Type
Pfam:UPF0066	44	164	1.2e-46	PFAM
low complexity region	431	442	N/A	INTRINSIC
low complexity region	443	456	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151903
AA Change: H183L

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119785
Gene: ENSMUSG00000028331
AA Change: H183L

Domain	Start	End	E-Value	Type
Pfam:UPF0066	49	172	4.1e-45	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 96.8%
20x: 89.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	T	G	7: 131,424,599	L57R	probably damaging	Het
Bmpr1b	G	A	3: 141,871,385	T55M	possibly damaging	Het
Cep350	G	A	1: 155,953,762	T132I	probably benign	Het
Cops4	A	T	5: 100,547,414	M400L	probably benign	Het
Cul1	G	A	6: 47,523,213	D653N	probably benign	Het
Cyp3a13	C	G	5: 137,919,056	L36F	probably damaging	Het
Dcaf10	T	C	4: 45,342,558	F131L	probably benign	Het
Dgkh	T	C	14: 78,624,504		probably null	Het
Igll1	C	T	16: 16,861,057	V130M	probably damaging	Het
Kif2c	C	T	4: 117,182,542		probably benign	Het
Klra7	T	C	6: 130,218,958	D262G	possibly damaging	Het
Lrrc27	T	C	7: 139,218,335		probably benign	Het
Maf	A	G	8: 115,705,792	S358P	probably benign	Het
Map1a	A	G	2: 121,303,674	D1419G	possibly damaging	Het
Map3k1	G	A	13: 111,755,979	A914V	probably benign	Het
Naa25	T	G	5: 121,423,692	L436R	possibly damaging	Het
Ndc1	T	C	4: 107,383,707	I294T	probably damaging	Het
Nek1	A	C	8: 61,016,272	D121A	probably damaging	Het
Nfil3	C	T	13: 52,968,710	G53R	probably benign	Het
Olfr63	T	C	17: 33,269,336	V204A	possibly damaging	Het
Parp14	A	T	16: 35,840,927	Y1550*	probably null	Het
Patl1	A	G	19: 11,921,516	I192V	probably damaging	Het
Pax3	G	A	1: 78,121,651	T367I	probably damaging	Het
Pla2g4a	C	T	1: 149,880,063	V208M	probably damaging	Het
Prdm10	A	T	9: 31,337,323	K347M	probably damaging	Het
Prkd1	A	T	12: 50,392,916	M376K	probably benign	Het
Prkg1	C	T	19: 30,894,694	V219I	possibly damaging	Het
Rictor	G	A	15: 6,794,006	E1555K	probably benign	Het
Scn3a	T	C	2: 65,464,730	I1550V	possibly damaging	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Sox4	T	C	13: 28,952,996	E9G	probably damaging	Het
Spon1	T	A	7: 114,029,072	D354E	probably damaging	Het
Stat2	T	A	10: 128,283,494	L450H	probably damaging	Het
Tek	T	A	4: 94,853,553	M849K	probably damaging	Het
Tmem63c	G	A	12: 87,075,726	D433N	probably damaging	Het
Tnpo3	G	A	6: 29,589,033	T106I	probably damaging	Het
Tns1	G	T	1: 73,918,033	A1674D	possibly damaging	Het
Trim8	T	C	19: 46,515,410	V467A	possibly damaging	Het
Trpm1	C	A	7: 64,268,962	C683*	probably null	Het
Vsig10	T	G	5: 117,338,270	L263R	probably damaging	Het
Zfp874a	A	T	13: 67,442,693	Y291N	probably benign	Het

Other mutations in Trmo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00593:Trmo	APN	4	46382490	missense	probably benign
IGL01296:Trmo	APN	4	46387589	missense	probably damaging	1.00
IGL01308:Trmo	APN	4	46377053	utr 3 prime	probably benign
IGL01544:Trmo	APN	4	46386169	missense	probably damaging	1.00
IGL01545:Trmo	APN	4	46386169	missense	probably damaging	1.00
IGL01722:Trmo	APN	4	46386092	critical splice donor site	probably null
IGL02085:Trmo	APN	4	46380217	missense	probably damaging	1.00
IGL02927:Trmo	APN	4	46387602	missense	probably damaging	1.00
R0645:Trmo	UTSW	4	46377083	utr 3 prime	probably benign
R0745:Trmo	UTSW	4	46382104	missense	probably damaging	1.00
R1365:Trmo	UTSW	4	46380278	missense	probably damaging	1.00
R1835:Trmo	UTSW	4	46380158	missense	probably damaging	1.00
R3928:Trmo	UTSW	4	46382647	missense	probably damaging	1.00
R3929:Trmo	UTSW	4	46382647	missense	probably damaging	1.00
R4497:Trmo	UTSW	4	46382140	missense	probably damaging	1.00
R4938:Trmo	UTSW	4	46382388	missense	probably benign	0.00
R4980:Trmo	UTSW	4	46389364	nonsense	probably null
R5209:Trmo	UTSW	4	46387740	missense	probably damaging	0.99
R5639:Trmo	UTSW	4	46382073	missense	probably benign	0.00
R6151:Trmo	UTSW	4	46389390	missense	probably damaging	1.00
R7351:Trmo	UTSW	4	46387716	missense	possibly damaging	0.78
R8684:Trmo	UTSW	4	46386251	nonsense	probably null
R8684:Trmo	UTSW	4	46386253	critical splice acceptor site	probably null
R8823:Trmo	UTSW	4	46382604	missense	probably damaging	1.00
R8856:Trmo	UTSW	4	46387625	missense	probably benign	0.01
R9039:Trmo	UTSW	4	46382322	missense	probably benign	0.00
R9331:Trmo	UTSW	4	46387642	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TCTCTGTCTTCTGGCAAAGTG -3'
(R):5'- GAGACTTAGGGGATAATCCTGCC -3'

Sequencing Primer
(F):5'- CAAAGTGTGCTGGATTTCTGAC -3'
(R):5'- GGGATAATCCTGCCCTCCATTTG -3'

Posted On

2017-02-10