Mutagenetix > Incidental Mutation

Incidental Mutation 'R0745:Trmo'

70909

Institutional Source

Beutler Lab

Gene Symbol

Trmo

Ensembl Gene

ENSMUSG00000028331

Gene Name

tRNA methyltransferase O

Synonyms

5830415F09Rik

MMRRC Submission

038926-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46376505-46389437 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46382104 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 338 (F338L)

Ref Sequence

ENSEMBL: ENSMUSP00000119785 (fasta)

Gene Model

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

AlphaFold

Q562D6

Predicted Effect

probably damaging
Transcript: ENSMUST00000030015
AA Change: F331L

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

SMART Domains

Protein: ENSMUSP00000030015
Gene: ENSMUSG00000028331
AA Change: F331L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000086563
AA Change: F331L

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

SMART Domains

Protein: ENSMUSP00000083752
Gene: ENSMUSG00000028331
AA Change: F331L

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 damaging
Transcript: ENSMUST00000151903
AA Change: F338L

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

SMART Domains

Protein: ENSMUSP00000119785
Gene: ENSMUSG00000028331
AA Change: F338L

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

Meta Mutation Damage Score

0.6675

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 95.0%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,928,463	Y759C	probably damaging	Het
Abhd12	A	T	2: 150,833,148		probably null	Het
Adam17	A	G	12: 21,332,221		probably benign	Het
Aldh1l2	T	A	10: 83,518,630		probably null	Het
Brca2	A	T	5: 150,544,882		probably benign	Het
Capn13	A	C	17: 73,351,508	D188E	probably benign	Het
Col14a1	A	T	15: 55,338,417	T34S	unknown	Het
Col5a2	A	G	1: 45,407,227		probably null	Het
Cyp4v3	A	G	8: 45,308,651		probably benign	Het
Dlat	G	A	9: 50,653,708	T233M	probably damaging	Het
Eef2	C	T	10: 81,181,996	P831S	probably benign	Het
Endod1	A	T	9: 14,357,117	N357K	possibly damaging	Het
Evc	A	T	5: 37,319,059	V205E	probably damaging	Het
Fryl	A	G	5: 73,071,126	L1754P	probably damaging	Het
Gabra6	A	T	11: 42,316,567	M230K	probably damaging	Het
Hsd3b5	A	G	3: 98,619,539	V197A	probably benign	Het
Kmt2c	A	T	5: 25,359,698		probably null	Het
Mthfsd	A	T	8: 121,102,949	L116Q	probably damaging	Het
Mug1	A	G	6: 121,887,427	T1428A	probably benign	Het
Obscn	A	G	11: 59,082,239	V2312A	probably benign	Het
Olfr1357	T	C	10: 78,612,122	E173G	probably benign	Het
Palld	G	A	8: 61,877,703	R47C	probably damaging	Het
Pds5b	A	G	5: 150,805,671	T1424A	probably benign	Het
Ppp6r2	G	A	15: 89,265,242		probably null	Het
Sik3	A	G	9: 46,198,239	N505S	probably benign	Het
Spin1	A	G	13: 51,139,515	Y87C	probably damaging	Het
Tcp11	T	C	17: 28,067,160	I494V	possibly damaging	Het
Tgfa	G	A	6: 86,271,435	E140K	probably damaging	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Tspan17	T	C	13: 54,789,674	V27A	possibly damaging	Het
Uba5	A	G	9: 104,049,511		probably benign	Het
Unc5a	CTGTGTGTGTGTGTGT	CTGTGTGTGTGTGT	13: 55,005,255		probably null	Het
Zbbx	C	T	3: 75,155,427	V8I	probably damaging	Het
Zcchc11	C	G	4: 108,502,955		probably benign	Het
Zfp451	A	T	1: 33,770,848	L931*	probably null	Het
Zmym4	A	T	4: 126,902,703		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
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
R5855:Trmo	UTSW	4	46382568	missense	probably benign	0.43
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'- ACGCTTTCACCAGTGTCAACCG -3'
(R):5'- TGTCAGAAATCCAGCACACTTTGCC -3'

Sequencing Primer
(F):5'- TGTCAACCGTGACGAGATTC -3'
(R):5'- GATATGCCCGAAAATCAGCTTG -3'

Posted On

2013-09-30