Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01364:Trmt9b'

75880

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: 0.070) question?

Stock #

IGL01364

Quality Score

Status

Chromosome

Chromosomal Location

36924643-36981738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36979501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 368 (K368R)

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: K368R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000119912
Gene: ENSMUSG00000039620
AA Change: K368R

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: K368R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000127875
Gene: ENSMUSG00000039620
AA Change: K368R

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	C	A	4: 40,181,380 (GRCm39)		probably null	Het
Acot6	T	C	12: 84,147,840 (GRCm39)	V32A	possibly damaging	Het
Aff3	A	T	1: 38,574,762 (GRCm39)	L73I	probably damaging	Het
Aldh1l2	C	A	10: 83,328,531 (GRCm39)	D729Y	probably damaging	Het
Alox15	T	C	11: 70,235,992 (GRCm39)	Q525R	possibly damaging	Het
Atr	T	C	9: 95,747,677 (GRCm39)	Y320H	probably benign	Het
Atxn3	C	T	12: 101,900,682 (GRCm39)		probably benign	Het
Caprin2	C	A	6: 148,774,526 (GRCm39)	S262I	probably benign	Het
Ccar1	T	C	10: 62,612,653 (GRCm39)		probably null	Het
Ccdc14	T	A	16: 34,543,583 (GRCm39)	L647H	probably damaging	Het
Cd300lf	T	C	11: 115,017,176 (GRCm39)	D49G	probably benign	Het
Csmd2	A	G	4: 128,308,081 (GRCm39)	T1280A	probably benign	Het
Ddb1	T	C	19: 10,605,024 (GRCm39)		probably null	Het
Dnah9	A	G	11: 66,046,285 (GRCm39)	Y88H	probably damaging	Het
Enpp1	T	C	10: 24,540,512 (GRCm39)	T351A	probably damaging	Het
Evi2b	T	A	11: 79,407,449 (GRCm39)	Y42F	probably benign	Het
Fdps	A	T	3: 89,001,577 (GRCm39)	C274*	probably null	Het
Flnb	A	C	14: 7,934,562 (GRCm38)		probably null	Het
Herc1	T	A	9: 66,306,643 (GRCm39)	V917E	probably benign	Het
Hmcn2	C	T	2: 31,251,826 (GRCm39)	Q854*	probably null	Het
Hmgxb3	T	C	18: 61,279,506 (GRCm39)	Y769C	probably damaging	Het
Hps3	G	T	3: 20,057,469 (GRCm39)	Q772K	possibly damaging	Het
Ifnab	T	C	4: 88,608,987 (GRCm39)	S160G	probably damaging	Het
Kalrn	T	C	16: 34,082,999 (GRCm39)	E652G	probably damaging	Het
Kat6a	T	C	8: 23,397,716 (GRCm39)	L255S	probably damaging	Het
Kbtbd7	T	A	14: 79,665,486 (GRCm39)	D439E	possibly damaging	Het
Kcnn4	T	C	7: 24,081,128 (GRCm39)	F289L	probably benign	Het
Mapk6	A	C	9: 75,296,072 (GRCm39)	D475E	possibly damaging	Het
Msh5	A	G	17: 35,247,745 (GRCm39)	V825A	possibly damaging	Het
Mst1	A	G	9: 107,958,800 (GRCm39)	I111V	probably benign	Het
Myo1h	T	A	5: 114,486,500 (GRCm39)	I586N	probably damaging	Het
Or4k36	G	T	2: 111,146,015 (GRCm39)	A64S	probably damaging	Het
Panx1	C	T	9: 14,932,761 (GRCm39)	V80M	probably damaging	Het
Polr3b	T	A	10: 84,531,533 (GRCm39)	I803N	probably benign	Het
Rasa4	T	C	5: 136,124,425 (GRCm39)	V158A	possibly damaging	Het
Rbp3	T	A	14: 33,676,145 (GRCm39)	M31K	possibly damaging	Het
Rpl3l	A	G	17: 24,951,404 (GRCm39)	K154E	probably benign	Het
Sec24a	A	T	11: 51,604,356 (GRCm39)		probably null	Het
Sox5	C	T	6: 144,062,198 (GRCm39)	M151I	probably damaging	Het
Sun1	T	A	5: 139,220,496 (GRCm39)	L290Q	probably damaging	Het
Tm9sf2	T	A	14: 122,380,872 (GRCm39)	I155N	probably damaging	Het
Tuft1	A	G	3: 94,542,810 (GRCm39)		probably benign	Het
Ubash3b	A	G	9: 40,929,311 (GRCm39)		probably null	Het
Vwa1	A	G	4: 155,855,200 (GRCm39)		probably null	Het
Wnk1	T	C	6: 119,914,372 (GRCm39)	E80G	probably damaging	Het
Xpot	C	A	10: 121,440,399 (GRCm39)	A611S	probably benign	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
IGL01360:Trmt9b	APN	8	36,979,713 (GRCm39)	missense	probably benign	0.08
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