Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01959:Dimt1'

182308

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dimt1

Ensembl Gene

ENSMUSG00000021692

Gene Name

DIM1 rRNA methyltransferase and ribosome maturation factor

Synonyms

1500031M22Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

IGL01959

Quality Score

Status

Chromosome

Chromosomal Location

107083635-107096732 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107089963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 229 (I229V)

Ref Sequence

ENSEMBL: ENSMUSP00000022203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022203] [ENSMUST00000224052]

AlphaFold

Q9D0D4

Predicted Effect

probably benign
Transcript: ENSMUST00000022203
AA Change: I229V

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022203
Gene: ENSMUSG00000021692
AA Change: I229V

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
rADc	44	213	2.07e-86	SMART
Blast:rADc	241	276	2e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223870

Predicted Effect

probably benign
Transcript: ENSMUST00000224052

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a methyltransferase that is responsible for dimethylation of adjacent adenosines near the 18S rRNA decoding site. The encoded protein is essential for ribosome biogenesis, although its catalytic activity is not involved in the process. The yeast ortholog of this protein functions in the cytoplasm while this protein functions in the nucleus. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	T	C	11: 50,982,645 (GRCm39)		noncoding transcript	Het
Aip	A	G	19: 4,171,397 (GRCm39)	I13T	probably damaging	Het
Cacna2d1	C	T	5: 16,417,895 (GRCm39)	P140S	probably benign	Het
Cald1	A	G	6: 34,730,403 (GRCm39)	D40G	probably damaging	Het
Cep250	T	A	2: 155,825,279 (GRCm39)	V1052E	possibly damaging	Het
Chd1	A	G	17: 15,962,435 (GRCm39)	N731D	probably damaging	Het
Chml	C	T	1: 175,515,166 (GRCm39)	V252I	probably benign	Het
Cog8	T	C	8: 107,783,010 (GRCm39)	Y93C	probably damaging	Het
Creld1	G	A	6: 113,469,794 (GRCm39)	A399T	probably damaging	Het
Cyp2a4	T	A	7: 26,007,133 (GRCm39)	V80E	probably damaging	Het
Cyp2c37	T	A	19: 39,984,277 (GRCm39)	L255*	probably null	Het
Cyp2d12	C	A	15: 82,439,545 (GRCm39)		probably benign	Het
Dsc1	G	A	18: 20,230,282 (GRCm39)	T341I	probably damaging	Het
Ercc3	T	A	18: 32,390,411 (GRCm39)	F567I	probably damaging	Het
Espl1	C	A	15: 102,214,097 (GRCm39)		probably benign	Het
Fcrl2	T	C	3: 87,166,939 (GRCm39)	D18G	probably damaging	Het
Fnip1	T	A	11: 54,381,738 (GRCm39)	S296R	possibly damaging	Het
Fzd5	C	A	1: 64,775,105 (GRCm39)	A219S	possibly damaging	Het
Gbp7	A	G	3: 142,247,108 (GRCm39)		probably benign	Het
Gm3298	T	C	14: 5,018,731 (GRCm38)	L162S	probably damaging	Het
Hspa1l	A	G	17: 35,196,111 (GRCm39)	E50G	probably damaging	Het
Ipo9	T	C	1: 135,348,093 (GRCm39)		probably null	Het
Kazn	A	G	4: 141,878,195 (GRCm39)	L185P	probably damaging	Het
Kcnh8	T	C	17: 53,141,635 (GRCm39)	S293P	probably damaging	Het
Lrp1b	T	C	2: 41,202,539 (GRCm39)	T1191A	probably damaging	Het
Mnat1	A	G	12: 73,228,705 (GRCm39)		probably benign	Het
Msx2	C	T	13: 53,622,638 (GRCm39)		probably benign	Het
Ndufs2	T	G	1: 171,064,798 (GRCm39)	I317L	probably benign	Het
Nms	T	C	1: 38,981,006 (GRCm39)		probably benign	Het
Oosp3	T	A	19: 11,678,286 (GRCm39)	F87L	probably benign	Het
Pask	A	G	1: 93,262,329 (GRCm39)	V177A	probably benign	Het
Poldip2	G	T	11: 78,403,133 (GRCm39)		probably benign	Het
Prr14l	A	T	5: 32,987,549 (GRCm39)	S649T	possibly damaging	Het
Slc6a18	T	A	13: 73,825,984 (GRCm39)	N22I	probably damaging	Het
Smco2	T	A	6: 146,763,208 (GRCm39)	S228T	probably benign	Het
Speer4a1	G	A	5: 26,240,902 (GRCm39)	Q197*	probably null	Het
Speg	A	G	1: 75,367,734 (GRCm39)	K641R	probably damaging	Het
Strip2	G	A	6: 29,928,553 (GRCm39)	V286M	probably damaging	Het
Tnfrsf22	C	T	7: 143,197,012 (GRCm39)		probably null	Het
Tnpo3	A	G	6: 29,589,019 (GRCm39)		probably benign	Het
Top2b	T	A	14: 16,422,695 (GRCm38)	N1377K	probably benign	Het
Trmt1	T	A	8: 85,418,005 (GRCm39)		probably null	Het
Trpm1	A	G	7: 63,858,723 (GRCm39)	M266V	possibly damaging	Het
Vmn1r199	A	G	13: 22,567,290 (GRCm39)	T195A	probably benign	Het
Vmn2r10	A	G	5: 109,145,571 (GRCm39)	V512A	probably benign	Het
Zfp777	A	G	6: 48,021,275 (GRCm39)	F116L	probably benign	Het
Zp3r	T	A	1: 130,519,188 (GRCm39)	K253*	probably null	Het

Other mutations in Dimt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00703:Dimt1	APN	13	107,089,938 (GRCm39)	unclassified	probably benign
IGL01940:Dimt1	APN	13	107,085,206 (GRCm39)	splice site	probably benign
IGL02649:Dimt1	APN	13	107,085,219 (GRCm39)	missense	probably benign
IGL02811:Dimt1	APN	13	107,084,175 (GRCm39)	splice site	probably benign
R0462:Dimt1	UTSW	13	107,085,264 (GRCm39)	missense	possibly damaging	0.71
R1175:Dimt1	UTSW	13	107,086,193 (GRCm39)	splice site	probably benign
R1450:Dimt1	UTSW	13	107,084,151 (GRCm39)	missense	probably benign	0.00
R1616:Dimt1	UTSW	13	107,089,958 (GRCm39)	missense	possibly damaging	0.60
R4647:Dimt1	UTSW	13	107,084,163 (GRCm39)	missense	probably benign	0.10
R5029:Dimt1	UTSW	13	107,093,630 (GRCm39)	missense	probably null	0.00
R5679:Dimt1	UTSW	13	107,084,108 (GRCm39)	missense	possibly damaging	0.89
R9507:Dimt1	UTSW	13	107,093,656 (GRCm39)	missense	probably benign
R9514:Dimt1	UTSW	13	107,093,636 (GRCm39)	missense	possibly damaging	0.84

Posted On

2014-05-07