Mutagenetix > Incidental Mutation

Incidental Mutation 'R9507:Dimt1'

717895

Institutional Source

Beutler Lab

Gene Symbol

Dimt1

Ensembl Gene

ENSMUSG00000021692

Gene Name

DIM1 rRNA methyltransferase and ribosome maturation factor

Synonyms

1500031M22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R9507 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107083635-107096732 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107093656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 283 (T283A)

Ref Sequence

ENSEMBL: ENSMUSP00000022203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022203] [ENSMUST00000022204] [ENSMUST00000117423] [ENSMUST00000122233] [ENSMUST00000159772] [ENSMUST00000224052]

AlphaFold

Q9D0D4

Predicted Effect

probably benign
Transcript: ENSMUST00000022203
AA Change: T283A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022203
Gene: ENSMUSG00000021692
AA Change: T283A

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

probably benign
Transcript: ENSMUST00000022204

SMART Domains

Protein: ENSMUSP00000022204
Gene: ENSMUSG00000021693

Domain	Start	End	E-Value	Type
low complexity region	73	85	N/A	INTRINSIC
low complexity region	159	183	N/A	INTRINSIC
KISc	220	560	6.56e-147	SMART
low complexity region	613	625	N/A	INTRINSIC
coiled coil region	660	698	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117423

SMART Domains

Protein: ENSMUSP00000113921
Gene: ENSMUSG00000021693

Domain	Start	End	E-Value	Type
low complexity region	46	58	N/A	INTRINSIC
low complexity region	113	137	N/A	INTRINSIC
KISc	174	514	6.56e-147	SMART
low complexity region	567	579	N/A	INTRINSIC
coiled coil region	614	652	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122233

SMART Domains

Protein: ENSMUSP00000112715
Gene: ENSMUSG00000021693

Domain	Start	End	E-Value	Type
low complexity region	46	58	N/A	INTRINSIC
low complexity region	132	156	N/A	INTRINSIC
KISc	193	533	4.33e-147	SMART
low complexity region	542	556	N/A	INTRINSIC
low complexity region	624	636	N/A	INTRINSIC
coiled coil region	671	709	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159772

SMART Domains

Protein: ENSMUSP00000125644
Gene: ENSMUSG00000021693

Domain	Start	End	E-Value	Type
low complexity region	73	85	N/A	INTRINSIC
low complexity region	159	183	N/A	INTRINSIC
KISc	220	560	4.33e-147	SMART
low complexity region	569	583	N/A	INTRINSIC
low complexity region	651	663	N/A	INTRINSIC
coiled coil region	698	736	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224052

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	A	G	19: 8,866,587 (GRCm39)	T47A	probably damaging	Het
Acsm2	A	T	7: 119,179,939 (GRCm39)	I386F	probably benign	Het
Actn4	A	T	7: 28,606,397 (GRCm39)	D305E	probably benign	Het
Anln	A	G	9: 22,274,136 (GRCm39)	V567A	probably damaging	Het
Arhgap35	A	G	7: 16,297,343 (GRCm39)	I574T	probably benign	Het
Baz1b	C	A	5: 135,233,971 (GRCm39)	S166Y	probably damaging	Het
Ccdc191	T	C	16: 43,764,192 (GRCm39)	L551P	probably damaging	Het
Cdk5rap2	T	C	4: 70,210,110 (GRCm39)	T713A	probably benign	Het
Cep290	C	A	10: 100,330,785 (GRCm39)	A155E	possibly damaging	Het
Chst8	G	A	7: 34,447,496 (GRCm39)	Q41*	probably null	Het
Cyp2j6	C	A	4: 96,406,344 (GRCm39)	E476*	probably null	Het
Des	T	C	1: 75,343,434 (GRCm39)	V439A	probably benign	Het
Dmxl1	T	A	18: 50,024,567 (GRCm39)	V1747D	possibly damaging	Het
Fhod1	G	A	8: 106,064,694 (GRCm39)	R137*	probably null	Het
Gab2	A	T	7: 96,953,448 (GRCm39)	D608V	probably damaging	Het
Gdpd1	T	C	11: 86,950,264 (GRCm39)	D103G	possibly damaging	Het
Hspa5	T	C	2: 34,664,610 (GRCm39)	S355P	probably benign	Het
Ide	A	T	19: 37,265,536 (GRCm39)	F619L		Het
Ifrd1	A	C	12: 40,267,225 (GRCm39)	D70E	probably benign	Het
Il18r1	T	A	1: 40,513,884 (GRCm39)	V30E	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcng1	A	G	2: 168,111,152 (GRCm39)	L4S	probably damaging	Het
Lrfn4	A	G	19: 4,664,357 (GRCm39)	F59S	probably damaging	Het
Lrrc15	T	C	16: 30,092,829 (GRCm39)	D170G	probably damaging	Het
Mettl21e	T	A	1: 44,245,536 (GRCm39)	M237L	probably benign	Het
Myh1	A	G	11: 67,102,049 (GRCm39)	K810E	probably benign	Het
Nbea	T	C	3: 55,573,011 (GRCm39)	D2524G	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nutm2	A	T	13: 50,621,455 (GRCm39)	T7S	probably benign	Het
Or10g3b	A	T	14: 52,586,678 (GRCm39)	L275H	probably damaging	Het
Or2a5	G	T	6: 42,873,835 (GRCm39)	C150F	probably benign	Het
Or2t49	T	C	11: 58,392,576 (GRCm39)	T275A	possibly damaging	Het
Or51q1	T	G	7: 103,629,198 (GRCm39)	F266L	probably damaging	Het
Or6k2	T	A	1: 173,986,552 (GRCm39)	I71K	possibly damaging	Het
Or7a39	A	G	10: 78,715,597 (GRCm39)	H197R	probably benign	Het
Pate4	A	G	9: 35,519,538 (GRCm39)	S51P	probably damaging	Het
Rbm19	T	C	5: 120,265,232 (GRCm39)		probably null	Het
Rnf139	A	G	15: 58,770,664 (GRCm39)	K230E	probably damaging	Het
Rpia	G	A	6: 70,754,377 (GRCm39)	Q134*	probably null	Het
Rsf1	GC	GCGGCGGCGCC	7: 97,229,141 (GRCm39)		probably benign	Het
Sbk2	G	A	7: 4,960,277 (GRCm39)	P298S	possibly damaging	Het
Scrt1	A	G	15: 76,403,292 (GRCm39)	S233P	unknown	Het
Sh2b1	CGGGGACCAGCTC	CGGGGACCAGCTCAGCCAAGGGGACCAGCTC	7: 126,066,760 (GRCm39)		probably benign	Het
Sppl2c	T	A	11: 104,078,153 (GRCm39)	Y318N	probably benign	Het
St6galnac4	G	A	2: 32,485,739 (GRCm39)	W215*	probably null	Het
Stxbp6	A	G	12: 45,066,360 (GRCm39)	L15P	probably benign	Het
Tmem104	T	C	11: 115,091,699 (GRCm39)	L74P	probably damaging	Het
Tnfrsf10b	A	G	14: 70,015,221 (GRCm39)	D233G	probably benign	Het
Trmt11	A	C	10: 30,434,938 (GRCm39)	Y369*	probably null	Het
Tusc1	T	A	4: 93,223,245 (GRCm39)	H138L	probably benign	Het
Ush2a	T	A	1: 188,596,937 (GRCm39)	Y3892*	probably null	Het
Xirp2	A	T	2: 67,344,280 (GRCm39)	I2174F	possibly damaging	Het
Zfp947	C	T	17: 22,364,582 (GRCm39)	G364D	probably benign	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
IGL01959:Dimt1	APN	13	107,089,963 (GRCm39)	missense	probably benign	0.31
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
R9514:Dimt1	UTSW	13	107,093,636 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- CAAACTGTCAGGTTTTCTCAGCTG -3'
(R):5'- AACTAGCTGCCAGCCTTTAC -3'

Sequencing Primer
(F):5'- CAGGTTTTCTCAGCTGTCATTTATAG -3'
(R):5'- CCTTTCATAGGGGTTGCCAAAGAC -3'

Posted On

2022-07-18