Mutagenetix > Incidental Mutation

Incidental Mutation 'R4523:Dmgdh'

334325

Institutional Source

Beutler Lab

Gene Symbol

Dmgdh

Ensembl Gene

ENSMUSG00000042102

Gene Name

dimethylglycine dehydrogenase precursor

Synonyms

MMRRC Submission

042004-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4523 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93674433-93752833 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 93688630 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 154 (Q154*)

Ref Sequence

ENSEMBL: ENSMUSP00000039663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048001]

AlphaFold

Q9DBT9

Predicted Effect

probably null
Transcript: ENSMUST00000048001
AA Change: Q154*

SMART Domains

Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102
AA Change: Q154*

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:DAO	44	407	9.3e-64	PFAM
Pfam:FAO_M	410	464	1e-15	PFAM
Pfam:GCV_T	468	738	3.6e-72	PFAM
Pfam:SoxG	559	697	1.3e-10	PFAM
Pfam:GCV_T_C	745	838	3.9e-26	PFAM

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	G	T	5: 67,667,600	T796K	probably benign	Het
Atr	T	C	9: 95,862,863	S78P	probably damaging	Het
BC017643	A	G	11: 121,224,108		probably benign	Het
Calb2	C	T	8: 110,148,509		probably null	Het
Ccdc88c	G	T	12: 100,913,332	S1843R	possibly damaging	Het
Cdca7	A	G	2: 72,479,698	S77G	probably damaging	Het
Cnot2	C	T	10: 116,581,474		probably benign	Het
Cstf2t	T	A	19: 31,083,082	V6D	possibly damaging	Het
Dido1	T	C	2: 180,672,292	I852V	probably damaging	Het
Dnah12	T	C	14: 26,770,022	F1138S	probably damaging	Het
Dnah12	G	A	14: 26,876,958	A998T	possibly damaging	Het
Dusp5	T	G	19: 53,537,601	Y225D	probably damaging	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Fam126a	T	C	5: 23,965,122	T410A	probably benign	Het
Fam193a	G	A	5: 34,443,371	D601N	probably benign	Het
Fbxo41	A	G	6: 85,484,042	I228T	probably damaging	Het
Fmo2	T	C	1: 162,887,708	K115R	probably benign	Het
Gak	G	T	5: 108,576,566	Q1093K	probably benign	Het
Gm5277	G	T	3: 78,892,186		noncoding transcript	Het
Gm7173	A	T	X: 79,509,995	N291K	possibly damaging	Het
Hgsnat	A	G	8: 25,968,361		probably null	Het
Map3k3	G	A	11: 106,148,868	R278H	probably damaging	Het
Mrvi1	T	C	7: 110,923,841	M338V	probably benign	Het
Muc4	T	C	16: 32,736,336		probably benign	Het
Nectin3	C	A	16: 46,448,590	R483L	probably benign	Het
Nop2	G	T	6: 125,133,552	R47L	probably damaging	Het
Ntng1	A	G	3: 109,934,996	S154P	probably damaging	Het
Olfml2b	T	C	1: 170,669,222	I474T	probably benign	Het
Olfr1054	C	G	2: 86,333,300	D19H	probably benign	Het
Olfr843	T	C	9: 19,249,229	T57A	probably damaging	Het
Optc	G	T	1: 133,903,754	T138K	possibly damaging	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pard3	C	T	8: 127,398,627	P421S	probably benign	Het
Pcdhb22	G	T	18: 37,520,421	E647D	probably benign	Het
Pclo	A	G	5: 14,679,992		probably benign	Het
Prkce	G	T	17: 86,490,750		probably null	Het
Prr12	T	C	7: 45,048,523	D656G	unknown	Het
Ptprk	A	T	10: 28,466,052	D485V	probably damaging	Het
Ptprn2	T	C	12: 116,876,000	L381P	probably damaging	Het
Rnf144b	T	C	13: 47,207,537	I51T	probably benign	Het
Rpl10l	T	C	12: 66,283,738	D207G	probably benign	Het
Sh3glb2	A	T	2: 30,350,699	V118E	probably damaging	Het
Sipa1l2	C	T	8: 125,492,424	G58D	probably damaging	Het
Slc5a4a	C	T	10: 76,148,362	A46V	probably damaging	Het
Tepp	T	A	8: 95,313,010	Y18*	probably null	Het
Tgm7	C	A	2: 121,098,588		probably null	Het
Tjap1	A	G	17: 46,258,792	V424A	probably benign	Het
Trpm6	A	T	19: 18,796,500	I414F	probably damaging	Het
Tsr3	C	G	17: 25,241,749	D196E	probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Vmn2r72	T	A	7: 85,751,926	H95L	probably benign	Het
Vmn2r97	T	A	17: 18,929,071	N240K	probably benign	Het
Xdh	C	A	17: 73,898,344	G1042V	probably damaging	Het
Zcchc4	A	G	5: 52,784,067	D68G	probably damaging	Het

Other mutations in Dmgdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Dmgdh	APN	13	93703778	splice site	probably benign
IGL01406:Dmgdh	APN	13	93687031	splice site	probably benign
IGL01408:Dmgdh	APN	13	93709295	missense	probably damaging	1.00
IGL02167:Dmgdh	APN	13	93720627	splice site	probably benign
IGL02538:Dmgdh	APN	13	93708753	missense	possibly damaging	0.50
IGL02550:Dmgdh	APN	13	93717575	missense	probably damaging	1.00
IGL02563:Dmgdh	APN	13	93674539	splice site	probably benign
IGL02668:Dmgdh	APN	13	93703910	missense	probably damaging	1.00
IGL02889:Dmgdh	APN	13	93715677	critical splice donor site	probably null
IGL03293:Dmgdh	APN	13	93706701	missense	probably benign	0.11
R0646:Dmgdh	UTSW	13	93752355	missense	probably benign	0.04
R1531:Dmgdh	UTSW	13	93744411	missense	probably damaging	1.00
R1746:Dmgdh	UTSW	13	93752425	missense	probably benign
R1795:Dmgdh	UTSW	13	93706699	missense	probably benign
R1943:Dmgdh	UTSW	13	93711370	missense	probably benign	0.08
R1959:Dmgdh	UTSW	13	93720559	missense	probably benign	0.01
R3421:Dmgdh	UTSW	13	93711361	missense	probably benign	0.01
R3727:Dmgdh	UTSW	13	93692067	missense	probably damaging	1.00
R5000:Dmgdh	UTSW	13	93688538	missense	probably damaging	1.00
R5589:Dmgdh	UTSW	13	93677157	missense	probably damaging	1.00
R5913:Dmgdh	UTSW	13	93752323	missense	possibly damaging	0.92
R6056:Dmgdh	UTSW	13	93708743	missense	possibly damaging	0.67
R6056:Dmgdh	UTSW	13	93752326	missense	probably damaging	1.00
R6057:Dmgdh	UTSW	13	93752452	missense	probably benign	0.00
R6180:Dmgdh	UTSW	13	93752286	missense	possibly damaging	0.61
R6259:Dmgdh	UTSW	13	93752308	missense	probably benign	0.01
R6608:Dmgdh	UTSW	13	93706744	missense	possibly damaging	0.81
R6636:Dmgdh	UTSW	13	93709198	missense	probably benign	0.08
R6637:Dmgdh	UTSW	13	93709198	missense	probably benign	0.08
R6739:Dmgdh	UTSW	13	93720615	missense	probably benign	0.07
R7157:Dmgdh	UTSW	13	93715535	missense	probably damaging	1.00
R7200:Dmgdh	UTSW	13	93691885	missense	probably damaging	1.00
R7312:Dmgdh	UTSW	13	93708846	splice site	probably null
R7349:Dmgdh	UTSW	13	93752233	missense	possibly damaging	0.80
R8087:Dmgdh	UTSW	13	93703871	missense	possibly damaging	0.95
R8288:Dmgdh	UTSW	13	93708824	missense	probably damaging	1.00
R8290:Dmgdh	UTSW	13	93706736	missense	probably benign	0.05
R8371:Dmgdh	UTSW	13	93708730	missense	probably benign	0.00
R8469:Dmgdh	UTSW	13	93706667	missense	probably damaging	1.00
R8768:Dmgdh	UTSW	13	93688610	missense	possibly damaging	0.52
R8968:Dmgdh	UTSW	13	93709259	nonsense	probably null
R9150:Dmgdh	UTSW	13	93688595	missense	probably damaging	1.00
R9339:Dmgdh	UTSW	13	93711433	missense	probably benign
R9425:Dmgdh	UTSW	13	93744305	missense	probably benign	0.26
R9650:Dmgdh	UTSW	13	93708825	missense	probably benign	0.44
R9664:Dmgdh	UTSW	13	93720615	missense	probably benign	0.07
R9736:Dmgdh	UTSW	13	93706650	missense	possibly damaging	0.91
R9747:Dmgdh	UTSW	13	93688646	missense	probably damaging	1.00
X0066:Dmgdh	UTSW	13	93752374	missense	possibly damaging	0.90
Z1177:Dmgdh	UTSW	13	93677183	missense	probably damaging	0.96
Z1177:Dmgdh	UTSW	13	93709288	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTGTGCTAGGGAACTGTTTGAG -3'
(R):5'- TAACGGCCTACACTGTGACC -3'

Sequencing Primer
(F):5'- AACTGTTTGAGTGCCTGAAGAC -3'
(R):5'- GTGTAACACCTACCGTCTAATGTTGG -3'

Posted On

2015-08-18