Mutagenetix > Incidental Mutation

Incidental Mutation 'R5952:Trmt11'

470956

Institutional Source

Beutler Lab

Gene Symbol

Trmt11

Ensembl Gene

ENSMUSG00000019792

Gene Name

tRNA methyltransferase 11

Synonyms

2410075D05Rik, 3110045I18Rik

MMRRC Submission

044142-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.852) question?

Stock #

R5952 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30410221-30476745 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30436838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 301 (Y301H)

Ref Sequence

ENSEMBL: ENSMUSP00000019927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019927] [ENSMUST00000215595] [ENSMUST00000216790]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000019927
AA Change: Y301H

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000019927
Gene: ENSMUSG00000019792
AA Change: Y301H

Domain	Start	End	E-Value	Type
Pfam:UPF0020	189	324	1.9e-14	PFAM
Pfam:Methyltransf_26	216	373	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215041

Predicted Effect

probably benign
Transcript: ENSMUST00000215595

Predicted Effect

probably benign
Transcript: ENSMUST00000216790

Meta Mutation Damage Score

0.0903

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

91% (62/68)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	T	6: 86,086,728 (GRCm39)	D296V	probably damaging	Het
Ak9	A	G	10: 41,233,559 (GRCm39)	E599G	possibly damaging	Het
Ank3	A	T	10: 69,822,293 (GRCm39)	I1604F	probably benign	Het
Arid4a	A	G	12: 71,109,980 (GRCm39)	D107G	probably benign	Het
Bltp1	A	G	3: 37,019,770 (GRCm39)	T2060A	probably damaging	Het
Btn2a2	A	T	13: 23,666,978 (GRCm39)	I209N	probably benign	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Csmd3	A	G	15: 47,596,901 (GRCm39)	V1979A	probably damaging	Het
Cyp4a12b	C	T	4: 115,271,714 (GRCm39)	R142*	probably null	Het
Ddx23	A	T	15: 98,556,121 (GRCm39)	S66T	unknown	Het
Efcab2	A	G	1: 178,303,439 (GRCm39)	K121R	probably benign	Het
Epb41l1	T	A	2: 156,345,708 (GRCm39)	V237D	probably damaging	Het
Epb41l1	G	T	2: 156,366,903 (GRCm39)	A579S	probably benign	Het
Epn1	G	A	7: 5,096,911 (GRCm39)	R231H	probably damaging	Het
Fbrs	T	C	7: 127,086,924 (GRCm39)	S649P	probably damaging	Het
Fezf1	A	G	6: 23,247,427 (GRCm39)	V216A	probably benign	Het
Gen1	A	T	12: 11,310,897 (GRCm39)	S112T	probably damaging	Het
Glrx2	A	G	1: 143,620,872 (GRCm39)	N84D	probably benign	Het
Gm1818	T	G	12: 48,602,719 (GRCm39)		noncoding transcript	Het
Hira	C	A	16: 18,753,815 (GRCm39)	T553K	possibly damaging	Het
Hnrnph3	A	G	10: 62,851,374 (GRCm39)		probably benign	Het
Ighv12-3	A	T	12: 114,330,204 (GRCm39)	F97Y	probably benign	Het
Jcad	A	G	18: 4,674,554 (GRCm39)	Q772R	probably damaging	Het
Lamb3	A	G	1: 193,014,670 (GRCm39)	T610A	probably benign	Het
Map3k19	T	C	1: 127,750,477 (GRCm39)	D958G	probably benign	Het
Map4k4	G	A	1: 40,039,082 (GRCm39)		probably benign	Het
Mocos	T	C	18: 24,834,444 (GRCm39)	V827A	possibly damaging	Het
Ms4a10	T	A	19: 10,941,486 (GRCm39)	D161V	probably damaging	Het
Myh9	A	G	15: 77,657,532 (GRCm39)	I1071T	possibly damaging	Het
Myo15a	A	G	11: 60,370,246 (GRCm39)	E1002G	possibly damaging	Het
Neurod6	G	A	6: 55,656,002 (GRCm39)	H212Y	probably damaging	Het
Or2v1	A	T	11: 49,025,399 (GRCm39)	I95F	probably damaging	Het
Or52z13	T	A	7: 103,247,174 (GRCm39)	I217N	probably damaging	Het
Or5b12	T	C	19: 12,897,194 (GRCm39)	N160D	probably benign	Het
Pcdhb17	T	C	18: 37,620,133 (GRCm39)	V641A	probably benign	Het
Ppp3ca	A	T	3: 136,634,332 (GRCm39)	M431L	probably benign	Het
Ptprk	A	T	10: 28,461,671 (GRCm39)	I69F	probably damaging	Het
Rab34	G	T	11: 78,081,094 (GRCm39)		probably benign	Het
Rb1cc1	A	G	1: 6,318,406 (GRCm39)	N619S	probably benign	Het
Rnf169	T	C	7: 99,574,840 (GRCm39)	H585R	probably damaging	Het
Rps6kc1	A	G	1: 190,617,617 (GRCm39)	V129A	probably benign	Het
Siglecf	C	T	7: 43,005,351 (GRCm39)	T437M	probably benign	Het
Slc25a2	T	C	18: 37,771,335 (GRCm39)	N65D	probably benign	Het
Spire1	A	G	18: 67,639,779 (GRCm39)	S245P	probably benign	Het
Sptb	A	T	12: 76,679,158 (GRCm39)	M99K	probably benign	Het
Tacc1	G	T	8: 25,672,011 (GRCm39)	L406I	possibly damaging	Het
Tas2r140	T	C	6: 40,468,476 (GRCm39)	I102T	probably benign	Het
Trappc11	A	T	8: 47,949,952 (GRCm39)		probably null	Het
Trbv11	A	G	6: 41,084,153 (GRCm39)		noncoding transcript	Het
Tspo	A	G	15: 83,456,441 (GRCm39)	T75A	possibly damaging	Het
Ttn	T	C	2: 76,710,569 (GRCm39)		probably benign	Het
Zfhx4	A	G	3: 5,462,030 (GRCm39)	Q1210R	probably damaging	Het
Zhx3	A	T	2: 160,623,937 (GRCm39)	Y77N	probably damaging	Het

Other mutations in Trmt11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Trmt11	APN	10	30,442,445 (GRCm39)	missense	probably damaging	1.00
IGL01586:Trmt11	APN	10	30,473,747 (GRCm39)	missense	probably benign	0.01
IGL02307:Trmt11	APN	10	30,470,150 (GRCm39)	missense	possibly damaging	0.92
IGL02319:Trmt11	APN	10	30,436,869 (GRCm39)	missense	probably damaging	1.00
IGL02622:Trmt11	APN	10	30,435,169 (GRCm39)	missense	probably benign	0.00
R0047:Trmt11	UTSW	10	30,411,239 (GRCm39)	missense	probably benign
R0047:Trmt11	UTSW	10	30,411,239 (GRCm39)	missense	probably benign
R0269:Trmt11	UTSW	10	30,463,485 (GRCm39)	missense	probably benign	0.01
R1240:Trmt11	UTSW	10	30,466,821 (GRCm39)	intron	probably benign
R1694:Trmt11	UTSW	10	30,411,221 (GRCm39)	missense	probably benign	0.02
R1765:Trmt11	UTSW	10	30,435,184 (GRCm39)	missense	probably benign
R2293:Trmt11	UTSW	10	30,423,744 (GRCm39)	missense	probably damaging	0.98
R2295:Trmt11	UTSW	10	30,423,744 (GRCm39)	missense	probably damaging	0.98
R2857:Trmt11	UTSW	10	30,423,744 (GRCm39)	missense	probably damaging	0.98
R4631:Trmt11	UTSW	10	30,435,200 (GRCm39)	missense	probably benign	0.00
R5684:Trmt11	UTSW	10	30,423,706 (GRCm39)	missense	probably damaging	1.00
R6022:Trmt11	UTSW	10	30,463,497 (GRCm39)	missense	possibly damaging	0.76
R7044:Trmt11	UTSW	10	30,466,930 (GRCm39)	missense	probably benign	0.27
R7459:Trmt11	UTSW	10	30,466,039 (GRCm39)	missense	probably benign	0.02
R7538:Trmt11	UTSW	10	30,436,870 (GRCm39)	missense	probably damaging	1.00
R7672:Trmt11	UTSW	10	30,463,520 (GRCm39)	missense	probably damaging	1.00
R7728:Trmt11	UTSW	10	30,463,497 (GRCm39)	missense	possibly damaging	0.76
R8116:Trmt11	UTSW	10	30,442,490 (GRCm39)	missense	possibly damaging	0.88
R8988:Trmt11	UTSW	10	30,467,027 (GRCm39)	missense	probably benign
R9225:Trmt11	UTSW	10	30,423,753 (GRCm39)	missense	probably damaging	1.00
R9507:Trmt11	UTSW	10	30,434,938 (GRCm39)	nonsense	probably null
R9555:Trmt11	UTSW	10	30,470,150 (GRCm39)	missense	possibly damaging	0.92
R9690:Trmt11	UTSW	10	30,436,938 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AACCTGCTGCTTAGTCCTAACTTTG -3'
(R):5'- TTGGTAAATACGGGATGCATGATTG -3'

Sequencing Primer
(F):5'- GCTGCTTAGTCCTAACTTTGCATTG -3'
(R):5'- TACGGGATGCATGATTGTAAAAG -3'

Posted On

2017-03-31