Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01080:Dmgdh'

52539

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dmgdh

Ensembl Gene

ENSMUSG00000042102

Gene Name

dimethylglycine dehydrogenase precursor

Synonyms

1200014D15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01080

Quality Score

Status

Chromosome

Chromosomal Location

93810944-93889331 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 93840286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039663 (fasta)

Gene Model

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

AlphaFold

Q9DBT9

Predicted Effect

probably benign
Transcript: ENSMUST00000048001

SMART Domains

Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102

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: ENSMUST00000149839

Coding Region Coverage

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,984,258 (GRCm39)	R663W	probably damaging	Het
Cacng5	A	T	11: 107,768,754 (GRCm39)	F179L	probably damaging	Het
Cacng5	C	T	11: 107,772,531 (GRCm39)	V106I	probably benign	Het
Cd96	T	C	16: 45,870,056 (GRCm39)	E471G	possibly damaging	Het
Cpt1c	T	C	7: 44,610,333 (GRCm39)	D621G	probably damaging	Het
Csmd3	T	C	15: 47,744,799 (GRCm39)	I1503V	probably benign	Het
Flg	A	T	3: 93,186,906 (GRCm39)	K119N	probably benign	Het
Gale	T	C	4: 135,693,389 (GRCm39)	Y104H	probably damaging	Het
Gm8005	T	C	14: 42,258,971 (GRCm39)	D119G	unknown	Het
Gstk1	A	T	6: 42,223,560 (GRCm39)	D50V	possibly damaging	Het
Kmt2a	T	C	9: 44,720,389 (GRCm39)	D3866G	unknown	Het
Mastl	A	G	2: 23,036,160 (GRCm39)	S119P	probably damaging	Het
Or2aj4	A	T	16: 19,384,958 (GRCm39)	V225E	probably damaging	Het
Phf11c	G	A	14: 59,630,648 (GRCm39)	T19I	probably benign	Het
Ppp1r16b	A	G	2: 158,599,092 (GRCm39)	T355A	probably damaging	Het
Prmt7	T	G	8: 106,963,846 (GRCm39)		probably benign	Het
Rad50	T	C	11: 53,596,895 (GRCm39)	T44A	probably damaging	Het
Rangap1	C	T	15: 81,589,953 (GRCm39)		probably benign	Het
Slc27a3	A	T	3: 90,292,767 (GRCm39)	V634E	probably benign	Het
Tbxas1	T	A	6: 38,998,115 (GRCm39)	L228I	probably damaging	Het
Tnfaip3	T	C	10: 18,887,403 (GRCm39)	K41E	probably benign	Het
Tti1	C	T	2: 157,824,379 (GRCm39)	V1025I	probably damaging	Het
Tyrobp	T	C	7: 30,116,841 (GRCm39)		probably null	Het
Wfdc16	A	T	2: 164,480,406 (GRCm39)	W30R	probably damaging	Het
Zyg11b	A	T	4: 108,094,613 (GRCm39)	L657Q	probably damaging	Het

Other mutations in Dmgdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01406:Dmgdh	APN	13	93,823,539 (GRCm39)	splice site	probably benign
IGL01408:Dmgdh	APN	13	93,845,803 (GRCm39)	missense	probably damaging	1.00
IGL02167:Dmgdh	APN	13	93,857,135 (GRCm39)	splice site	probably benign
IGL02538:Dmgdh	APN	13	93,845,261 (GRCm39)	missense	possibly damaging	0.50
IGL02550:Dmgdh	APN	13	93,854,083 (GRCm39)	missense	probably damaging	1.00
IGL02563:Dmgdh	APN	13	93,811,047 (GRCm39)	splice site	probably benign
IGL02668:Dmgdh	APN	13	93,840,418 (GRCm39)	missense	probably damaging	1.00
IGL02889:Dmgdh	APN	13	93,852,185 (GRCm39)	critical splice donor site	probably null
IGL03293:Dmgdh	APN	13	93,843,209 (GRCm39)	missense	probably benign	0.11
R0646:Dmgdh	UTSW	13	93,888,863 (GRCm39)	missense	probably benign	0.04
R1531:Dmgdh	UTSW	13	93,880,919 (GRCm39)	missense	probably damaging	1.00
R1746:Dmgdh	UTSW	13	93,888,933 (GRCm39)	missense	probably benign
R1795:Dmgdh	UTSW	13	93,843,207 (GRCm39)	missense	probably benign
R1943:Dmgdh	UTSW	13	93,847,878 (GRCm39)	missense	probably benign	0.08
R1959:Dmgdh	UTSW	13	93,857,067 (GRCm39)	missense	probably benign	0.01
R3421:Dmgdh	UTSW	13	93,847,869 (GRCm39)	missense	probably benign	0.01
R3727:Dmgdh	UTSW	13	93,828,575 (GRCm39)	missense	probably damaging	1.00
R4523:Dmgdh	UTSW	13	93,825,138 (GRCm39)	nonsense	probably null
R5000:Dmgdh	UTSW	13	93,825,046 (GRCm39)	missense	probably damaging	1.00
R5589:Dmgdh	UTSW	13	93,813,665 (GRCm39)	missense	probably damaging	1.00
R5913:Dmgdh	UTSW	13	93,888,831 (GRCm39)	missense	possibly damaging	0.92
R6056:Dmgdh	UTSW	13	93,888,834 (GRCm39)	missense	probably damaging	1.00
R6056:Dmgdh	UTSW	13	93,845,251 (GRCm39)	missense	possibly damaging	0.67
R6057:Dmgdh	UTSW	13	93,888,960 (GRCm39)	missense	probably benign	0.00
R6180:Dmgdh	UTSW	13	93,888,794 (GRCm39)	missense	possibly damaging	0.61
R6259:Dmgdh	UTSW	13	93,888,816 (GRCm39)	missense	probably benign	0.01
R6608:Dmgdh	UTSW	13	93,843,252 (GRCm39)	missense	possibly damaging	0.81
R6636:Dmgdh	UTSW	13	93,845,706 (GRCm39)	missense	probably benign	0.08
R6637:Dmgdh	UTSW	13	93,845,706 (GRCm39)	missense	probably benign	0.08
R6739:Dmgdh	UTSW	13	93,857,123 (GRCm39)	missense	probably benign	0.07
R7157:Dmgdh	UTSW	13	93,852,043 (GRCm39)	missense	probably damaging	1.00
R7200:Dmgdh	UTSW	13	93,828,393 (GRCm39)	missense	probably damaging	1.00
R7312:Dmgdh	UTSW	13	93,845,354 (GRCm39)	splice site	probably null
R7349:Dmgdh	UTSW	13	93,888,741 (GRCm39)	missense	possibly damaging	0.80
R8087:Dmgdh	UTSW	13	93,840,379 (GRCm39)	missense	possibly damaging	0.95
R8288:Dmgdh	UTSW	13	93,845,332 (GRCm39)	missense	probably damaging	1.00
R8290:Dmgdh	UTSW	13	93,843,244 (GRCm39)	missense	probably benign	0.05
R8371:Dmgdh	UTSW	13	93,845,238 (GRCm39)	missense	probably benign	0.00
R8469:Dmgdh	UTSW	13	93,843,175 (GRCm39)	missense	probably damaging	1.00
R8768:Dmgdh	UTSW	13	93,825,118 (GRCm39)	missense	possibly damaging	0.52
R8968:Dmgdh	UTSW	13	93,845,767 (GRCm39)	nonsense	probably null
R9150:Dmgdh	UTSW	13	93,825,103 (GRCm39)	missense	probably damaging	1.00
R9339:Dmgdh	UTSW	13	93,847,941 (GRCm39)	missense	probably benign
R9425:Dmgdh	UTSW	13	93,880,813 (GRCm39)	missense	probably benign	0.26
R9650:Dmgdh	UTSW	13	93,845,333 (GRCm39)	missense	probably benign	0.44
R9664:Dmgdh	UTSW	13	93,857,123 (GRCm39)	missense	probably benign	0.07
R9736:Dmgdh	UTSW	13	93,843,158 (GRCm39)	missense	possibly damaging	0.91
R9747:Dmgdh	UTSW	13	93,825,154 (GRCm39)	missense	probably damaging	1.00
X0066:Dmgdh	UTSW	13	93,888,882 (GRCm39)	missense	possibly damaging	0.90
Z1177:Dmgdh	UTSW	13	93,845,796 (GRCm39)	missense	probably damaging	1.00
Z1177:Dmgdh	UTSW	13	93,813,691 (GRCm39)	missense	probably damaging	0.96

Posted On

2013-06-21