Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03087:Trmt1'

418162

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trmt1

Ensembl Gene

ENSMUSG00000001909

Gene Name

tRNA methyltransferase 1

Synonyms

D8Ertd812e

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.699) question?

Stock #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

84686307-84699808 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84695233 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 213 (Y213C)

Ref Sequence

ENSEMBL: ENSMUSP00000135327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001974] [ENSMUST00000109767] [ENSMUST00000109768] [ENSMUST00000125370] [ENSMUST00000131700] [ENSMUST00000143427] [ENSMUST00000177084] [ENSMUST00000152301] [ENSMUST00000175784] [ENSMUST00000177423] [ENSMUST00000177531]

Predicted Effect

probably damaging
Transcript: ENSMUST00000001974
AA Change: Y217C

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

SMART Domains

Protein: ENSMUSP00000001974
Gene: ENSMUSG00000001909
AA Change: Y217C

Domain	Start	End	E-Value	Type
Pfam:TRM	55	499	3.5e-151	PFAM
Pfam:Met_10	141	256	1.3e-8	PFAM
ZnF_C3H1	599	625	3.55e-6	SMART
low complexity region	648	661	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000077990

Predicted Effect

probably damaging
Transcript: ENSMUST00000109767
AA Change: Y217C

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

SMART Domains

Protein: ENSMUSP00000105389
Gene: ENSMUSG00000001909
AA Change: Y217C

Domain	Start	End	E-Value	Type
Pfam:TRM	55	499	4.9e-149	PFAM
Pfam:Met_10	142	256	3.4e-8	PFAM
ZnF_C3H1	599	625	3.55e-6	SMART
low complexity region	648	661	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109768
AA Change: Y210C

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

SMART Domains

Protein: ENSMUSP00000105390
Gene: ENSMUSG00000001909
AA Change: Y210C

Domain	Start	End	E-Value	Type
Pfam:TRM	48	492	3.1e-149	PFAM
Pfam:Met_10	135	249	4.4e-8	PFAM
ZnF_C3H1	592	618	3.55e-6	SMART
low complexity region	641	654	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000125370
AA Change: Y217C

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

SMART Domains

Protein: ENSMUSP00000135510
Gene: ENSMUSG00000001909
AA Change: Y217C

Domain	Start	End	E-Value	Type
Pfam:TRM	55	470	1.7e-140	PFAM
Pfam:Met_10	142	256	2.8e-8	PFAM
ZnF_C3H1	570	596	3.55e-6	SMART
low complexity region	619	632	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128537

Predicted Effect

probably benign
Transcript: ENSMUST00000131700

SMART Domains

Protein: ENSMUSP00000122526
Gene: ENSMUSG00000001909

Domain	Start	End	E-Value	Type
Pfam:TRM	54	108	3.9e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136423

SMART Domains

Protein: ENSMUSP00000134723
Gene: ENSMUSG00000001909

Domain	Start	End	E-Value	Type
low complexity region	190	203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138300

Predicted Effect

probably benign
Transcript: ENSMUST00000143427

SMART Domains

Protein: ENSMUSP00000117140
Gene: ENSMUSG00000001909

Domain	Start	End	E-Value	Type
Pfam:TRM	47	98	3.2e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177084
AA Change: Y192C

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

SMART Domains

Protein: ENSMUSP00000135675
Gene: ENSMUSG00000001909
AA Change: Y192C

Domain	Start	End	E-Value	Type
Pfam:TRM	29	260	4.1e-76	PFAM
Pfam:Met_10	117	231	4.1e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000152301
AA Change: Y220C

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

SMART Domains

Protein: ENSMUSP00000116712
Gene: ENSMUSG00000001909
AA Change: Y220C

Domain	Start	End	E-Value	Type
Pfam:TRM	54	242	4.2e-49	PFAM
Pfam:Met_10	145	229	2.3e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000175784
AA Change: Y220C

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

SMART Domains

Protein: ENSMUSP00000135273
Gene: ENSMUSG00000001909
AA Change: Y220C

Domain	Start	End	E-Value	Type
Pfam:TRM	54	221	8.6e-39	PFAM
Pfam:Met_10	144	221	5.3e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177423
AA Change: Y213C

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

SMART Domains

Protein: ENSMUSP00000135327
Gene: ENSMUSG00000001909
AA Change: Y213C

Domain	Start	End	E-Value	Type
Pfam:TRM	47	262	1.4e-66	PFAM
Pfam:Met_10	138	252	5.6e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148118

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175870

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176053

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175704

Predicted Effect

probably benign
Transcript: ENSMUST00000175884

Predicted Effect

probably benign
Transcript: ENSMUST00000177531

SMART Domains

Protein: ENSMUSP00000135540
Gene: ENSMUSG00000001909

Domain	Start	End	E-Value	Type
Pfam:TRM	54	174	1.8e-21	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 24,997,632		probably benign	Het
Acbd5	A	G	2: 23,089,710	T261A	probably benign	Het
Ap1g2	G	A	14: 55,103,036	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,174,804	T150A	probably benign	Het
Arid4a	G	T	12: 71,075,245	R478L	possibly damaging	Het
Bard1	T	C	1: 71,067,130	D446G	probably damaging	Het
Baz2a	T	C	10: 128,122,313	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,974,642	L279P	possibly damaging	Het
Bphl	A	T	13: 34,073,711	H275L	probably damaging	Het
Ces1c	T	C	8: 93,118,414	I120V	probably benign	Het
Csmd3	T	A	15: 47,977,033	Y946F	probably damaging	Het
Dnah8	G	A	17: 30,784,144	V3606I	probably benign	Het
Eef2	A	G	10: 81,181,247	N696S	probably benign	Het
Eno4	A	G	19: 58,962,816	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,655,881		probably benign	Het
Fbxo25	T	C	8: 13,924,019		probably null	Het
Glt8d1	T	A	14: 31,010,096	F155I	probably damaging	Het
Golim4	A	T	3: 75,878,673	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,037,601	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,563,004	*333L	probably null	Het
Ift88	T	C	14: 57,477,957	S486P	probably benign	Het
Igsf9	T	C	1: 172,490,743	I150T	probably benign	Het
Jag2	G	A	12: 112,913,948	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,455,747	I280N	probably benign	Het
Kif18a	A	G	2: 109,318,117		probably benign	Het
Lct	A	G	1: 128,300,375	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,225,551		probably null	Het
Lyst	T	A	13: 13,635,056	I437N	probably damaging	Het
Map3k1	A	G	13: 111,749,025	S1453P	probably benign	Het
Mcmdc2	A	G	1: 9,930,945	M482V	possibly damaging	Het
Mical1	T	C	10: 41,482,690	S535P	probably damaging	Het
Myh3	T	C	11: 67,090,972	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,808,517	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,655,799		probably benign	Het
Neurod6	A	T	6: 55,678,775	C292*	probably null	Het
Olfr1106	A	T	2: 87,049,012	S75T	possibly damaging	Het
Olfr1255	A	G	2: 89,816,671	E109G	probably damaging	Het
Olfr530	T	A	7: 140,373,092	I173F	probably damaging	Het
Olfr809	A	T	10: 129,776,261	M116L	probably damaging	Het
Olfr828	T	C	9: 18,816,084	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,145,682	N572D	probably damaging	Het
Pfpl	A	G	19: 12,428,877	N164S	probably benign	Het
Pi4kb	A	G	3: 94,984,764	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,731,612	F10I	probably benign	Het
Rag2	G	A	2: 101,630,214	V290I	probably benign	Het
Rhot2	G	A	17: 25,841,141		probably benign	Het
Rps6kc1	T	C	1: 190,871,711	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,652,968	A495D	possibly damaging	Het
Sept4	T	A	11: 87,585,245		probably benign	Het
Serpina5	G	T	12: 104,101,733	A18S	probably benign	Het
Slc25a11	T	C	11: 70,645,207	T234A	probably benign	Het
Slc44a2	C	T	9: 21,346,765	T435I	probably benign	Het
Tekt2	T	A	4: 126,324,867	Q31L	possibly damaging	Het
Tfpi	A	G	2: 84,444,045	V199A	possibly damaging	Het
Trap1	G	T	16: 4,044,701		probably null	Het
Ubr4	C	T	4: 139,450,357	R3184*	probably null	Het
Uroc1	G	T	6: 90,363,103		probably benign	Het
Vmn1r19	A	G	6: 57,404,491	I10V	probably benign	Het
Zfhx2	G	A	14: 55,072,845	A748V	possibly damaging	Het

Other mutations in Trmt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Trmt1	APN	8	84695509	missense	possibly damaging	0.92
IGL01959:Trmt1	APN	8	84691376	splice site	probably null
IGL02127:Trmt1	APN	8	84697471	missense	probably damaging	1.00
IGL02689:Trmt1	APN	8	84699756	unclassified	probably benign
IGL02835:Trmt1	UTSW	8	84696960	missense	probably null	1.00
PIT4418001:Trmt1	UTSW	8	84697670	missense	probably damaging	0.97
R0395:Trmt1	UTSW	8	84697112	splice site	probably null
R0964:Trmt1	UTSW	8	84696852	missense	probably damaging	1.00
R1881:Trmt1	UTSW	8	84689267	intron	probably benign
R2190:Trmt1	UTSW	8	84689841	nonsense	probably null
R2197:Trmt1	UTSW	8	84690858	missense	probably damaging	1.00
R2979:Trmt1	UTSW	8	84696882	missense	probably damaging	1.00
R3813:Trmt1	UTSW	8	84695217	unclassified	probably benign
R4407:Trmt1	UTSW	8	84697755	unclassified	probably benign
R4461:Trmt1	UTSW	8	84699149	missense	probably benign	0.01
R4588:Trmt1	UTSW	8	84690753	intron	probably benign
R5170:Trmt1	UTSW	8	84695232	missense	probably damaging	1.00
R6299:Trmt1	UTSW	8	84697290	nonsense	probably null
R6614:Trmt1	UTSW	8	84689333	missense	probably benign
R6666:Trmt1	UTSW	8	84698454	missense	probably damaging	1.00
R7669:Trmt1	UTSW	8	84697551	missense	probably benign	0.05
R7952:Trmt1	UTSW	8	84689340	missense	possibly damaging	0.50
Z1176:Trmt1	UTSW	8	84698240	missense	possibly damaging	0.95
Z1176:Trmt1	UTSW	8	84699198	missense	possibly damaging	0.95

Posted On

2016-08-02