Mutagenetix > Incidental Mutation

Incidental Mutation 'R4647:Dimt1'

350422

Institutional Source

Beutler Lab

Gene Symbol

Dimt1

Ensembl Gene

ENSMUSG00000021692

Gene Name

DIM1 rRNA methyltransferase and ribosome maturation factor

Synonyms

1500031M22Rik

MMRRC Submission

041908-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R4647 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107083635-107096732 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107084163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 50 (D50V)

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: D50V

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000022203
Gene: ENSMUSG00000021692
AA Change: D50V

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: ENSMUST00000223851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223870

Predicted Effect

unknown
Transcript: ENSMUST00000224052
AA Change: D50V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225875

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 101,904,515 (GRCm39)	N132K	possibly damaging	Het
Aatf	T	C	11: 84,362,023 (GRCm39)	D313G	possibly damaging	Het
Abcb11	T	G	2: 69,115,615 (GRCm39)	D583A	probably damaging	Het
Adgrv1	A	T	13: 81,676,914 (GRCm39)	Y1252*	probably null	Het
Aim2	T	C	1: 173,283,090 (GRCm39)		silent	Het
Angpt1	T	A	15: 42,539,580 (GRCm39)	Y93F	probably benign	Het
Ankrd27	C	T	7: 35,337,659 (GRCm39)	P991L	probably benign	Het
Ap1s3	C	T	1: 79,591,920 (GRCm39)		probably null	Het
Apbb1	A	C	7: 105,214,745 (GRCm39)	S500A	probably benign	Het
Arc	G	A	15: 74,543,374 (GRCm39)	A283V	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
C1galt1c1	A	T	X: 37,720,349 (GRCm39)	S216T	probably benign	Het
C1qtnf4	T	A	2: 90,719,996 (GRCm39)	S90T	probably damaging	Het
Cachd1	A	T	4: 100,810,327 (GRCm39)	K310*	probably null	Het
Calhm1	A	G	19: 47,132,240 (GRCm39)	L125P	probably damaging	Het
Carmil1	G	A	13: 24,321,162 (GRCm39)	L278F	probably damaging	Het
Ccar1	A	T	10: 62,583,196 (GRCm39)	Y972*	probably null	Het
Cd163	C	T	6: 124,297,580 (GRCm39)	P909S	probably damaging	Het
Cd44	T	A	2: 102,668,274 (GRCm39)	H268L	possibly damaging	Het
Cdkl2	A	T	5: 92,165,072 (GRCm39)	L517Q	probably damaging	Het
Cep68	G	T	11: 20,189,349 (GRCm39)	N554K	probably benign	Het
Ces1d	A	G	8: 93,893,038 (GRCm39)	W515R	probably damaging	Het
Clca4b	A	C	3: 144,634,286 (GRCm39)	H102Q	probably benign	Het
Cldn15	T	A	5: 137,003,337 (GRCm39)	I142N	probably damaging	Het
Cmklr1	T	A	5: 113,752,701 (GRCm39)	D100V	probably damaging	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
D430041D05Rik	G	A	2: 104,088,788 (GRCm39)	P63S	probably damaging	Het
Ddx39a	A	T	8: 84,448,902 (GRCm39)	H259L	probably benign	Het
Dhx16	C	G	17: 36,196,527 (GRCm39)	A565G	probably benign	Het
Dock9	A	T	14: 121,823,658 (GRCm39)	L1428H	probably damaging	Het
Dpp4	G	T	2: 62,164,949 (GRCm39)	T700K	probably damaging	Het
E030030I06Rik	T	A	10: 22,024,744 (GRCm39)	R56S	unknown	Het
Eea1	A	G	10: 95,864,255 (GRCm39)	T925A	probably benign	Het
Ext1	A	G	15: 52,953,383 (GRCm39)	S494P	possibly damaging	Het
Fam171a1	G	A	2: 3,221,328 (GRCm39)	E140K	probably damaging	Het
Fgfr3	C	T	5: 33,892,330 (GRCm39)		probably benign	Het
Gabra6	A	G	11: 42,198,199 (GRCm39)	I407T	probably damaging	Het
Gm16223	C	A	5: 42,371,954 (GRCm39)	L115M	unknown	Het
Gm4781	G	T	10: 100,232,862 (GRCm39)		noncoding transcript	Het
Gm9772	T	A	17: 22,226,013 (GRCm39)	I70F	possibly damaging	Het
Gpr107	T	A	2: 31,100,513 (GRCm39)	F497Y	probably damaging	Het
Grm7	T	A	6: 110,891,344 (GRCm39)	Y192*	probably null	Het
Gtf2ird2	G	A	5: 134,245,034 (GRCm39)	A431T	probably damaging	Het
H2-K2	T	A	17: 34,194,989 (GRCm39)		noncoding transcript	Het
H2-M11	T	A	17: 36,858,883 (GRCm39)	V141D	probably benign	Het
Hmcn1	A	G	1: 150,551,262 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,289,031 (GRCm39)	Q2280L	possibly damaging	Het
Hmg20b	T	A	10: 81,184,416 (GRCm39)	Q129L	probably damaging	Het
Igfbp7	T	A	5: 77,499,143 (GRCm39)	Q285L	possibly damaging	Het
Igkv13-85	T	A	6: 68,907,720 (GRCm39)		probably benign	Het
Inpp5e	A	T	2: 26,297,926 (GRCm39)	L225H	probably benign	Het
Inpp5f	T	A	7: 128,260,833 (GRCm39)	V91E	possibly damaging	Het
Khdc3	A	G	9: 73,009,868 (GRCm39)	E26G	possibly damaging	Het
Klra5	T	A	6: 129,876,339 (GRCm39)	D156V	probably damaging	Het
Kmo	C	A	1: 175,487,340 (GRCm39)	Y430*	probably null	Het
Lbx2	A	G	6: 83,065,027 (GRCm39)	D188G	probably damaging	Het
Lcorl	A	T	5: 45,890,931 (GRCm39)	L474*	probably null	Het
Lnx1	C	T	5: 74,771,457 (GRCm39)	V350I	probably benign	Het
Lrrc45	T	A	11: 120,609,947 (GRCm39)	S464T	probably benign	Het
Ltc4s	T	A	11: 50,128,052 (GRCm39)	T61S	probably benign	Het
Luc7l3	A	C	11: 94,200,467 (GRCm39)	N50K	probably damaging	Het
Ly75	G	A	2: 60,138,622 (GRCm39)	T1415M	probably damaging	Het
Macf1	T	C	4: 123,367,420 (GRCm39)	E2447G	probably benign	Het
Map3k21	A	G	8: 126,668,850 (GRCm39)	D812G	probably benign	Het
Mbtd1	C	T	11: 93,815,437 (GRCm39)	H342Y	probably damaging	Het
Mest	C	T	6: 30,745,109 (GRCm39)	R226*	probably null	Het
Mindy1	A	T	3: 95,190,054 (GRCm39)		probably benign	Het
Mmp13	A	T	9: 7,274,233 (GRCm39)	D180V	probably damaging	Het
Mn1	A	G	5: 111,567,949 (GRCm39)	T640A	probably benign	Het
Msi2	T	C	11: 88,608,864 (GRCm39)	H18R	possibly damaging	Het
Myo18a	T	A	11: 77,708,776 (GRCm39)	V61E	probably damaging	Het
Myo19	T	G	11: 84,785,468 (GRCm39)	I237S	probably damaging	Het
Ncaph2	T	A	15: 89,254,635 (GRCm39)	L416Q	probably damaging	Het
Nlrp1a	T	A	11: 70,987,952 (GRCm39)		probably null	Het
Or1n1b	A	G	2: 36,780,663 (GRCm39)	F66L	probably benign	Het
Or2d4	A	T	7: 106,543,547 (GRCm39)	N220K	probably benign	Het
Or51a25	A	G	7: 102,373,299 (GRCm39)	S133P	probably damaging	Het
Or5b98	A	G	19: 12,931,441 (GRCm39)	I163V	probably benign	Het
Or8s10	G	T	15: 98,335,457 (GRCm39)	V36F	probably benign	Het
Padi2	T	C	4: 140,671,757 (GRCm39)	F495S	probably damaging	Het
Pan3	G	T	5: 147,464,013 (GRCm39)	D535Y	probably damaging	Het
Paqr3	T	A	5: 97,256,069 (GRCm39)	R102*	probably null	Het
Patl1	T	A	19: 11,891,798 (GRCm39)	D34E	probably damaging	Het
Pcdha6	A	T	18: 37,102,189 (GRCm39)	T461S	probably damaging	Het
Pcnt	T	C	10: 76,190,047 (GRCm39)	S2830G	probably benign	Het
Pdgfa	G	A	5: 138,964,939 (GRCm39)	T181I	probably benign	Het
Pds5a	C	A	5: 65,813,661 (GRCm39)	D275Y	probably damaging	Het
Plod2	T	A	9: 92,487,503 (GRCm39)	Y607*	probably null	Het
Pomt2	G	T	12: 87,164,857 (GRCm39)	T517K	possibly damaging	Het
Pramel23	T	C	4: 143,425,914 (GRCm39)	M10V	probably benign	Het
Prdm1	T	C	10: 44,315,686 (GRCm39)	T817A	probably damaging	Het
Prdm2	T	C	4: 142,859,525 (GRCm39)	D1255G	possibly damaging	Het
Prex2	T	A	1: 11,232,509 (GRCm39)	C859S	probably damaging	Het
Ralgapa2	A	T	2: 146,229,549 (GRCm39)	M1077K	possibly damaging	Het
Ralgds	T	C	2: 28,435,532 (GRCm39)		probably null	Het
Rasa3	T	C	8: 13,638,865 (GRCm39)	E314G	probably null	Het
Rasa4	T	A	5: 136,130,217 (GRCm39)	D324E	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Rnf139	A	T	15: 58,771,836 (GRCm39)	L620F	probably benign	Het
Rptor	T	A	11: 119,781,989 (GRCm39)	N1105K	probably benign	Het
Scaf11	A	T	15: 96,317,981 (GRCm39)		probably null	Het
Sectm1b	A	T	11: 120,946,760 (GRCm39)	V45E	probably damaging	Het
Selenon	A	G	4: 134,272,968 (GRCm39)	W157R	probably damaging	Het
Sema3b	C	A	9: 107,476,250 (GRCm39)	R657L	possibly damaging	Het
Setd1b	C	T	5: 123,286,175 (GRCm39)	A407V	unknown	Het
Sh3tc1	C	T	5: 35,863,662 (GRCm39)	A842T	probably damaging	Het
Shank2	A	G	7: 143,965,566 (GRCm39)	E1268G	probably damaging	Het
Shmt1	G	A	11: 60,692,291 (GRCm39)	S155F	probably damaging	Het
Sim2	A	G	16: 93,924,385 (GRCm39)	E510G	possibly damaging	Het
Slc25a46	A	T	18: 31,733,245 (GRCm39)	I168N	probably damaging	Het
Slc26a4	T	G	12: 31,590,525 (GRCm39)	D376A	possibly damaging	Het
Slfn14	G	T	11: 83,167,484 (GRCm39)	A677E	probably benign	Het
Slk	G	T	19: 47,608,713 (GRCm39)	Q555H	possibly damaging	Het
Synj1	A	T	16: 90,770,877 (GRCm39)	D517E	probably damaging	Het
Syvn1	G	A	19: 6,101,504 (GRCm39)	R440Q	probably benign	Het
Tafa5	T	G	15: 87,604,783 (GRCm39)	S115A	probably damaging	Het
Tas2r118	A	T	6: 23,969,467 (GRCm39)	I198N	probably damaging	Het
Tdh	A	G	14: 63,731,205 (GRCm39)	L323P	possibly damaging	Het
Tet2	A	T	3: 133,193,843 (GRCm39)	M197K	probably benign	Het
Timeless	A	G	10: 128,075,825 (GRCm39)	Y19C	possibly damaging	Het
Tnn	T	C	1: 159,973,612 (GRCm39)	M252V	probably benign	Het
Trdn	G	T	10: 33,071,977 (GRCm39)	E215*	probably null	Het
Trmt1l	G	T	1: 151,333,632 (GRCm39)	V712F	possibly damaging	Het
Tti1	T	C	2: 157,848,940 (GRCm39)		probably benign	Het
Ulk4	T	C	9: 120,970,918 (GRCm39)	H1018R	probably benign	Het
Vim	A	T	2: 13,587,306 (GRCm39)	H461L	probably benign	Het
Vmn2r118	T	A	17: 55,917,665 (GRCm39)	E282D	probably damaging	Het
Vmn2r31	T	A	7: 7,387,367 (GRCm39)	I735F	probably damaging	Het
Vmn2r88	A	G	14: 51,656,250 (GRCm39)	M829V	probably benign	Het
Washc4	T	A	10: 83,410,407 (GRCm39)	M665K	possibly damaging	Het
Wbp2	T	A	11: 115,973,207 (GRCm39)	M67L	probably benign	Het
Wdr81	T	A	11: 75,336,814 (GRCm39)	E1525V	probably damaging	Het
Xbp1	A	G	11: 5,472,006 (GRCm39)	D44G	probably damaging	Het
Zfhx4	T	G	3: 5,464,341 (GRCm39)	F1500V	probably damaging	Het
Zfp286	A	C	11: 62,674,559 (GRCm39)	Y95*	probably null	Het
Zfp872	A	G	9: 22,111,057 (GRCm39)	T178A	possibly damaging	Het
Zkscan5	A	G	5: 145,155,640 (GRCm39)	H364R	possibly damaging	Het
Zp3r	A	T	1: 130,505,697 (GRCm39)	Y422N	probably damaging	Het
Zscan10	C	T	17: 23,829,314 (GRCm39)	R542C	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
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

Predicted Primers

PCR Primer
(F):5'- CATTGGAGCAGAAACCGTCC -3'
(R):5'- TGGGCAATTCTCAACCCATCC -3'

Sequencing Primer
(F):5'- TCCCGGGTCCATCCTGC -3'
(R):5'- AGAGCAACTATTCTGTCAGGC -3'

Posted On

2015-10-08