Mutagenetix > Incidental Mutations

Incidental Mutation 'R1943:Dmgdh'

216394

Institutional Source

Beutler Lab

Gene Symbol

Dmgdh

Ensembl Gene

ENSMUSG00000042102

Gene Name

dimethylglycine dehydrogenase precursor

Synonyms

MMRRC Submission

039961-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1943 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93674433-93752833 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93711370 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 525 (I525T)

Ref Sequence

ENSEMBL: ENSMUSP00000039663 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000048001
AA Change: I525T

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102
AA Change: I525T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149839

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,668,547	N1017S	possibly damaging	Het
Abca8a	T	C	11: 110,069,863	I610V	probably benign	Het
Acp5	C	T	9: 22,129,604	V108M	probably damaging	Het
Adam23	T	C	1: 63,477,757		probably null	Het
Adam34	A	T	8: 43,651,815	N264K	probably damaging	Het
Adam34	T	A	8: 43,650,827	T594S	possibly damaging	Het
Arsa	G	A	15: 89,473,539	T407I	probably damaging	Het
Bicc1	A	G	10: 71,159,523	S32P	probably damaging	Het
Cacna1i	T	A	15: 80,395,044	D1995E	probably benign	Het
Chst15	A	T	7: 132,262,850		probably null	Het
Cntnap4	T	A	8: 112,815,496	F754I	probably benign	Het
Cpz	C	T	5: 35,512,428	E302K	probably damaging	Het
Daw1	A	T	1: 83,209,266	I371F	possibly damaging	Het
Dennd1b	C	A	1: 139,168,952		probably benign	Het
Dhtkd1	T	G	2: 5,932,482	Q73P	probably benign	Het
Dst	C	A	1: 34,228,369	T4964K	possibly damaging	Het
Ercc3	A	G	18: 32,246,610	Y290C	probably damaging	Het
Fh1	C	T	1: 175,609,778	V252I	probably benign	Het
Gm13199	C	T	2: 5,862,706		probably benign	Het
Il1rn	T	C	2: 24,348,599	S82P	possibly damaging	Het
Lama4	T	C	10: 39,097,138	V1567A	possibly damaging	Het
Lamtor4	A	G	5: 138,255,792		probably null	Het
Llgl1	A	G	11: 60,706,016	N148D	probably benign	Het
Lmo7	G	T	14: 101,902,302	G774V	probably damaging	Het
Luzp2	A	T	7: 55,264,302	K293M	possibly damaging	Het
Mknk1	T	C	4: 115,863,026	V83A	probably damaging	Het
Mug2	T	C	6: 122,079,639	V1181A	probably benign	Het
Myo16	G	A	8: 10,594,905	D1746N	possibly damaging	Het
Olfr169	A	T	16: 19,566,437	W149R	probably benign	Het
Olfr51	A	G	11: 51,007,675	I234M	probably benign	Het
Osbpl3	A	G	6: 50,320,074	I548T	probably benign	Het
Parp14	A	G	16: 35,836,129	Y1676H	probably damaging	Het
Phtf1	A	T	3: 103,993,882	K416*	probably null	Het
Pmp2	T	C	3: 10,182,510	T40A	probably benign	Het
Ptpra	T	C	2: 130,544,104	M541T	probably damaging	Het
Rapgef6	A	G	11: 54,657,263	I753V	possibly damaging	Het
Rdh14	T	C	12: 10,391,162	V108A	probably benign	Het
Rnf38	A	T	4: 44,138,748	H248Q	probably damaging	Het
Rsph6a	A	C	7: 19,074,076	Y388S	probably damaging	Het
Ryr2	T	C	13: 11,731,723	D1981G	probably benign	Het
Sf3a3	A	G	4: 124,715,901	K97E	possibly damaging	Het
Shisa9	A	G	16: 12,267,756	T394A	probably benign	Het
Slc43a2	T	A	11: 75,545,741		probably null	Het
Slc45a1	A	G	4: 150,644,277	F23S	probably benign	Het
Slc7a10	T	A	7: 35,200,298	V435E	probably benign	Het
Snx15	A	G	19: 6,128,066	Y28H	probably damaging	Het
Spef2	T	G	15: 9,663,194	K834Q	possibly damaging	Het
Tdpoz2	G	T	3: 93,651,923	Y247*	probably null	Het
Tedc2	G	A	17: 24,217,949	R271W	possibly damaging	Het
Tfr2	C	A	5: 137,578,921	H378Q	probably benign	Het
Tigit	T	A	16: 43,649,218	H170L	probably benign	Het
Tmem2	G	A	19: 21,848,040		probably null	Het
Tmem62	A	T	2: 120,986,626	Q91L	probably benign	Het
Tmtc1	G	T	6: 148,425,918	C32*	probably null	Het
Txndc12	G	A	4: 108,856,210	V90I	probably benign	Het
Vmn2r93	C	A	17: 18,325,801	T645K	probably benign	Het
Vmn2r96	C	T	17: 18,586,402	T345I	probably benign	Het
Vps13d	A	T	4: 145,155,857	D1055E	probably benign	Het
Xirp2	A	G	2: 67,512,615	I1733M	probably benign	Het
Zfp512b	T	C	2: 181,588,415	H516R	probably damaging	Het
Zfp606	T	C	7: 12,493,688	S521P	probably damaging	Het
Zfp715	A	T	7: 43,299,630	V302E	possibly 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
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
R4523:Dmgdh	UTSW	13	93688630	nonsense	probably null
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
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'- AGAACAGATTTGAGGGTGCC -3'
(R):5'- TTGAAGCATTTTGGCATCCAG -3'

Sequencing Primer
(F):5'- CCCAGCTCCAGAAGGCTTTC -3'
(R):5'- CAGTTGGAATAAGTGGAGCCAAAG -3'

Posted On

2014-08-01