Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01406:Dmgdh'

79823

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 #

IGL01406

Quality Score

Status

Chromosome

Chromosomal Location

93810944-93889331 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 93823539 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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,180,212 (GRCm39)	Q558*	probably null	Het
Adam29	A	T	8: 56,324,874 (GRCm39)	Y527N	probably damaging	Het
Atm	T	C	9: 53,351,046 (GRCm39)	*3067W	probably null	Het
B3galt2	A	T	1: 143,522,844 (GRCm39)	I327L	possibly damaging	Het
Cadm2	C	A	16: 66,612,192 (GRCm39)		probably null	Het
Cd6	G	T	19: 10,768,501 (GRCm39)	A496E	possibly damaging	Het
Cdh16	A	T	8: 105,345,044 (GRCm39)	I415N	possibly damaging	Het
Ces1b	T	C	8: 93,798,622 (GRCm39)	N188S	probably damaging	Het
Col4a1	T	C	8: 11,268,898 (GRCm39)	D980G	probably damaging	Het
Emb	A	T	13: 117,405,466 (GRCm39)	D296V	probably damaging	Het
Fbln2	T	C	6: 91,243,374 (GRCm39)	S917P	probably damaging	Het
Fmnl1	T	C	11: 103,085,516 (GRCm39)		probably benign	Het
Frem2	T	C	3: 53,433,317 (GRCm39)	Y2669C	probably damaging	Het
Gm3115	T	A	14: 4,087,137 (GRCm38)		probably benign	Het
Hnf1b	C	T	11: 83,779,950 (GRCm39)	P402S	probably benign	Het
Il7r	T	A	15: 9,508,300 (GRCm39)	R341*	probably null	Het
Krt75	T	C	15: 101,476,460 (GRCm39)	Y435C	probably damaging	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Musk	T	C	4: 58,367,539 (GRCm39)	Y578H	probably damaging	Het
Naa20	A	G	2: 145,757,726 (GRCm39)		probably null	Het
Ncoa7	T	C	10: 30,566,836 (GRCm39)	D565G	probably damaging	Het
Pgap1	C	T	1: 54,572,573 (GRCm39)		probably null	Het
Plekha5	G	A	6: 140,518,676 (GRCm39)	R172H	probably damaging	Het
Snx17	A	G	5: 31,353,338 (GRCm39)	Y77C	probably damaging	Het
Spdye4b	C	T	5: 143,188,166 (GRCm39)	P220S	probably benign	Het
Tbx18	T	A	9: 87,595,596 (GRCm39)	D326V	probably damaging	Het
Tlr12	A	T	4: 128,510,132 (GRCm39)	L706*	probably null	Het
Tnfrsf21	T	A	17: 43,348,837 (GRCm39)	C150S	probably damaging	Het
Togaram1	A	G	12: 65,042,352 (GRCm39)	D1187G	possibly damaging	Het
Trav5-1	T	C	14: 52,860,444 (GRCm39)	L83P	probably damaging	Het
Vmn2r75	T	A	7: 85,812,500 (GRCm39)		probably benign	Het

Other mutations in Dmgdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Dmgdh	APN	13	93,840,286 (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

2013-11-05