Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01360:Trmt9b'

75728

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trmt9b

Ensembl Gene

ENSMUSG00000039620

Gene Name

tRNA methyltransferase 9B

Synonyms

6430573F11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL01360

Quality Score

Status

Chromosome

Chromosomal Location

36924643-36981738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36979713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 439 (I439V)

Ref Sequence

ENSEMBL: ENSMUSP00000119912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000135373] [ENSMUST00000147525] [ENSMUST00000152039] [ENSMUST00000171777]

AlphaFold

Q80WQ4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125492

Predicted Effect

probably benign
Transcript: ENSMUST00000135373

SMART Domains

Protein: ENSMUSP00000120524
Gene: ENSMUSG00000039620

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_11	49	114	7.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147525
AA Change: I439V

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000119912
Gene: ENSMUSG00000039620
AA Change: I439V

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_8	4	158	3.6e-9	PFAM
Pfam:Ubie_methyltran	9	153	2.9e-7	PFAM
Pfam:Methyltransf_23	23	184	4.2e-12	PFAM
Pfam:Methyltransf_31	42	186	1.3e-10	PFAM
Pfam:Methyltransf_25	48	135	4.2e-9	PFAM
Pfam:Methyltransf_12	49	137	4.1e-11	PFAM
Pfam:Methyltransf_11	49	139	3.6e-18	PFAM
low complexity region	377	387	N/A	INTRINSIC
low complexity region	410	430	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152039

SMART Domains

Protein: ENSMUSP00000119288
Gene: ENSMUSG00000039620

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_11	49	109	2.9e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171777
AA Change: I439V

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000127875
Gene: ENSMUSG00000039620
AA Change: I439V

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_8	4	158	3.6e-9	PFAM
Pfam:Ubie_methyltran	9	153	2.9e-7	PFAM
Pfam:Methyltransf_23	23	186	1.5e-11	PFAM
Pfam:Methyltransf_31	42	186	3.5e-10	PFAM
Pfam:Methyltransf_25	48	135	4.3e-9	PFAM
Pfam:Methyltransf_12	49	137	4.1e-11	PFAM
Pfam:Methyltransf_11	49	139	3.2e-18	PFAM
low complexity region	377	387	N/A	INTRINSIC
low complexity region	410	430	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,325,648 (GRCm39)	I1517L	possibly damaging	Het
Akap12	A	T	10: 4,307,537 (GRCm39)	D1449V	probably benign	Het
Alg6	T	A	4: 99,630,643 (GRCm39)	Y161N	probably benign	Het
Arhgap45	A	T	10: 79,864,482 (GRCm39)		probably benign	Het
Arhgap5	A	T	12: 52,565,023 (GRCm39)	I665F	probably damaging	Het
Bbs4	A	G	9: 59,247,131 (GRCm39)	V123A	possibly damaging	Het
Carm1	C	T	9: 21,498,598 (GRCm39)	T480I	probably benign	Het
Catsperb	G	A	12: 101,591,513 (GRCm39)	V1032M	probably damaging	Het
Cdc42bpb	A	C	12: 111,308,509 (GRCm39)	I101S	probably damaging	Het
Copa	C	A	1: 171,915,155 (GRCm39)		probably null	Het
Cramp1	T	C	17: 25,216,547 (GRCm39)	I189V	probably damaging	Het
Dhx33	G	A	11: 70,884,687 (GRCm39)	Q40*	probably null	Het
Egf	A	T	3: 129,533,669 (GRCm39)	F57Y	probably damaging	Het
Flt4	T	C	11: 49,534,333 (GRCm39)	I1168T	probably benign	Het
Gm14178	A	G	11: 99,638,269 (GRCm39)	S37P	unknown	Het
Gpbp1	A	T	13: 111,563,075 (GRCm39)		probably benign	Het
Herc1	T	C	9: 66,390,981 (GRCm39)	S3980P	probably benign	Het
Itga6	T	C	2: 71,617,670 (GRCm39)		probably null	Het
Itgb4	T	C	11: 115,881,766 (GRCm39)	S772P	probably damaging	Het
Kcng4	C	A	8: 120,352,416 (GRCm39)	G498V	probably benign	Het
Lrp1	T	G	10: 127,381,689 (GRCm39)	D3795A	possibly damaging	Het
Lrrk2	T	A	15: 91,584,772 (GRCm39)		probably null	Het
Mettl25	A	T	10: 105,659,058 (GRCm39)	H408Q	probably damaging	Het
Mki67	T	C	7: 135,307,505 (GRCm39)	E457G	probably damaging	Het
Mpl	G	A	4: 118,312,858 (GRCm39)	T158I	possibly damaging	Het
Mtg2	C	T	2: 179,725,870 (GRCm39)	T160I	probably damaging	Het
Mtif2	A	G	11: 29,480,110 (GRCm39)	I59V	probably benign	Het
Ncapg	C	A	5: 45,831,727 (GRCm39)	S191*	probably null	Het
Nup214	T	C	2: 31,928,190 (GRCm39)		probably benign	Het
Or9m1	T	C	2: 87,733,871 (GRCm39)	T50A	probably benign	Het
Phf3	T	A	1: 30,847,809 (GRCm39)	T1245S	probably damaging	Het
Piezo2	T	C	18: 63,250,770 (GRCm39)	D443G	probably damaging	Het
Pramel19	A	T	4: 101,797,665 (GRCm39)	D21V	possibly damaging	Het
Ptchd4	C	A	17: 42,627,936 (GRCm39)	H132Q	probably benign	Het
Pum1	T	C	4: 130,455,481 (GRCm39)		probably benign	Het
Slc30a7	A	T	3: 115,783,765 (GRCm39)	V136E	probably damaging	Het
Slc5a10	A	G	11: 61,605,962 (GRCm39)	V116A	probably damaging	Het
Sos2	A	T	12: 69,637,574 (GRCm39)	S1046T	probably benign	Het
Svep1	A	G	4: 58,116,554 (GRCm39)	S899P	possibly damaging	Het
Tfr2	G	A	5: 137,569,953 (GRCm39)	V120I	probably benign	Het
Tnfrsf18	A	T	4: 156,112,493 (GRCm39)	R117*	probably null	Het
Vmn1r77	T	G	7: 11,775,315 (GRCm39)	F30L	probably benign	Het
Vmn2r112	T	C	17: 22,837,603 (GRCm39)	M688T	probably benign	Het
Vmn2r93	T	A	17: 18,525,510 (GRCm39)	D389E	possibly damaging	Het
Zpld1	T	G	16: 55,046,748 (GRCm39)	N407T	probably benign	Het
Zranb3	C	T	1: 127,887,622 (GRCm39)	W935*	probably null	Het
Zyx	G	A	6: 42,327,378 (GRCm39)	R59Q	probably damaging	Het

Other mutations in Trmt9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Trmt9b	APN	8	36,979,453 (GRCm39)	missense	possibly damaging	0.90
IGL01364:Trmt9b	APN	8	36,979,501 (GRCm39)	missense	probably benign	0.03
IGL03401:Trmt9b	APN	8	36,972,823 (GRCm39)	missense	probably damaging	1.00
Bear_market	UTSW	8	36,965,637 (GRCm39)	critical splice donor site	probably null
R2161:Trmt9b	UTSW	8	36,972,804 (GRCm39)	missense	probably damaging	1.00
R2230:Trmt9b	UTSW	8	36,979,707 (GRCm39)	missense	probably damaging	1.00
R2232:Trmt9b	UTSW	8	36,979,707 (GRCm39)	missense	probably damaging	1.00
R4250:Trmt9b	UTSW	8	36,979,366 (GRCm39)	missense	probably benign	0.05
R4432:Trmt9b	UTSW	8	36,965,632 (GRCm39)	missense	probably damaging	1.00
R4491:Trmt9b	UTSW	8	36,972,760 (GRCm39)	missense	probably damaging	1.00
R5242:Trmt9b	UTSW	8	36,979,084 (GRCm39)	missense	probably benign	0.02
R5261:Trmt9b	UTSW	8	36,979,078 (GRCm39)	missense	probably benign	0.07
R5482:Trmt9b	UTSW	8	36,979,203 (GRCm39)	missense	probably benign
R5579:Trmt9b	UTSW	8	36,979,195 (GRCm39)	missense	probably benign	0.00
R5594:Trmt9b	UTSW	8	36,979,452 (GRCm39)	missense	probably benign	0.00
R5797:Trmt9b	UTSW	8	36,965,569 (GRCm39)	nonsense	probably null
R6481:Trmt9b	UTSW	8	36,965,637 (GRCm39)	critical splice donor site	probably null
R7504:Trmt9b	UTSW	8	36,979,309 (GRCm39)	missense	probably benign	0.03
R8119:Trmt9b	UTSW	8	36,965,576 (GRCm39)	nonsense	probably null
R8169:Trmt9b	UTSW	8	36,978,857 (GRCm39)	missense	probably damaging	0.97
R8962:Trmt9b	UTSW	8	36,972,729 (GRCm39)	missense	probably damaging	1.00
R9034:Trmt9b	UTSW	8	36,978,954 (GRCm39)	nonsense	probably null
R9035:Trmt9b	UTSW	8	36,978,954 (GRCm39)	nonsense	probably null
R9647:Trmt9b	UTSW	8	36,979,210 (GRCm39)	missense	probably benign	0.00
X0057:Trmt9b	UTSW	8	36,979,142 (GRCm39)	nonsense	probably null
X0065:Trmt9b	UTSW	8	36,979,010 (GRCm39)	missense	possibly damaging	0.71

Posted On

2013-10-07