Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01418:Mdh2'

278475

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mdh2

Ensembl Gene

ENSMUSG00000019179

Gene Name

malate dehydrogenase 2, NAD (mitochondrial)

Synonyms

Mor-1, Mor1, Mdh-2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01418

Quality Score

Status

Chromosome

Chromosomal Location

135807503-135819240 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135814879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 116 (I116N)

Ref Sequence

ENSEMBL: ENSMUSP00000142993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019323] [ENSMUST00000138101] [ENSMUST00000196285] [ENSMUST00000200556]

AlphaFold

P08249

Predicted Effect

probably damaging
Transcript: ENSMUST00000019323
AA Change: I139N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019323
Gene: ENSMUSG00000019179
AA Change: I139N

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:Ldh_1_N	25	168	7.2e-50	PFAM
Pfam:Ldh_1_C	170	334	4.9e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130795

Predicted Effect

probably benign
Transcript: ENSMUST00000138101

SMART Domains

Protein: ENSMUSP00000136225
Gene: ENSMUSG00000019179

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143747

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196285
AA Change: I111N

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143748
Gene: ENSMUSG00000019179
AA Change: I111N

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:Ldh_1_N	25	79	9.5e-14	PFAM
Pfam:Ldh_1_N	74	140	8.2e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000200556
AA Change: I116N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142993
Gene: ENSMUSG00000019179
AA Change: I116N

Domain	Start	End	E-Value	Type
Pfam:Ldh_1_N	9	145	1.7e-39	PFAM
Pfam:Ldh_1_C	147	198	3.8e-13	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	T	A	14: 68,762,655 (GRCm39)	H190L	probably benign	Het
Apoo-ps	T	A	13: 107,551,032 (GRCm39)		noncoding transcript	Het
Asic1	T	A	15: 99,569,998 (GRCm39)	N106K	probably damaging	Het
Ceacam5	G	A	7: 17,479,524 (GRCm39)	A214T	probably damaging	Het
Cfap221	T	A	1: 119,912,801 (GRCm39)	H91L	possibly damaging	Het
Cnga4	A	T	7: 105,054,169 (GRCm39)	M46L	probably benign	Het
Ctcfl	T	C	2: 172,960,124 (GRCm39)	E153G	probably benign	Het
Cubn	C	T	2: 13,288,852 (GRCm39)	V3374I	probably benign	Het
Cyb561a3	T	A	19: 10,562,610 (GRCm39)	H83Q	probably damaging	Het
Dnah11	C	T	12: 117,951,217 (GRCm39)	W1126*	probably null	Het
E130311K13Rik	A	C	3: 63,827,683 (GRCm39)	L141R	possibly damaging	Het
Ercc5	A	G	1: 44,206,440 (GRCm39)	K451R	probably benign	Het
Fbxo34	T	A	14: 47,768,241 (GRCm39)	C585S	possibly damaging	Het
Hoxc9	T	A	15: 102,892,432 (GRCm39)	M215K	probably damaging	Het
Ifi214	T	A	1: 173,356,995 (GRCm39)	N36I	probably damaging	Het
Il17ra	A	G	6: 120,452,542 (GRCm39)	N242D	probably benign	Het
Itpr1	T	A	6: 108,316,585 (GRCm39)		probably null	Het
Lactb	T	C	9: 66,875,045 (GRCm39)	D349G	possibly damaging	Het
Lrp2	C	T	2: 69,355,630 (GRCm39)	V405I	probably benign	Het
Map1b	A	T	13: 99,568,338 (GRCm39)	I1461K	unknown	Het
Nek5	A	C	8: 22,585,285 (GRCm39)	I364S	probably damaging	Het
Nr2c1	A	T	10: 94,026,552 (GRCm39)	M476L	probably damaging	Het
Or10j2	T	A	1: 173,098,275 (GRCm39)	C178S	probably damaging	Het
Or1d2	T	C	11: 74,255,810 (GRCm39)	V105A	possibly damaging	Het
Or4k42	T	C	2: 111,319,984 (GRCm39)	E173G	probably benign	Het
Or5w19	T	C	2: 87,698,809 (GRCm39)	V158A	probably benign	Het
Pcdhb8	A	G	18: 37,489,029 (GRCm39)	N236D	probably damaging	Het
Phf10	C	A	17: 15,165,396 (GRCm39)	V487L	probably benign	Het
Pramel22	A	T	4: 143,381,887 (GRCm39)	F270I	probably benign	Het
Ptpn3	G	A	4: 57,270,156 (GRCm39)	T2I	probably damaging	Het
Rbl1	T	C	2: 156,994,812 (GRCm39)		probably null	Het
Slc24a3	A	G	2: 145,482,169 (GRCm39)	D609G	probably damaging	Het
Slc25a40	A	C	5: 8,503,298 (GRCm39)	*338Y	probably null	Het
Slc5a8	G	T	10: 88,740,895 (GRCm39)	C270F	probably damaging	Het
Slfn8	T	C	11: 82,895,462 (GRCm39)	D448G	probably damaging	Het
Tmem87a	T	C	2: 120,216,351 (GRCm39)	T180A	probably benign	Het
Trim30c	A	G	7: 104,031,541 (GRCm39)	S425P	possibly damaging	Het
Ubap1	A	T	4: 41,387,333 (GRCm39)	R414S	probably benign	Het
Vipas39	G	A	12: 87,296,171 (GRCm39)	T274I	probably benign	Het
Zfp507	T	A	7: 35,493,237 (GRCm39)		probably null	Het

Other mutations in Mdh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Mdh2	APN	5	135,815,138 (GRCm39)	missense	probably damaging	1.00
IGL01413:Mdh2	APN	5	135,814,879 (GRCm39)	missense	probably damaging	0.99
IGL03290:Mdh2	APN	5	135,818,567 (GRCm39)	missense	probably damaging	1.00
R0396:Mdh2	UTSW	5	135,818,533 (GRCm39)	missense	probably benign
R0492:Mdh2	UTSW	5	135,819,004 (GRCm39)	missense	possibly damaging	0.54
R4977:Mdh2	UTSW	5	135,812,263 (GRCm39)	missense	probably damaging	1.00
R5162:Mdh2	UTSW	5	135,812,329 (GRCm39)	critical splice donor site	probably null
R5839:Mdh2	UTSW	5	135,812,146 (GRCm39)	splice site	probably null
R6821:Mdh2	UTSW	5	135,818,525 (GRCm39)	missense	possibly damaging	0.49
R8690:Mdh2	UTSW	5	135,814,882 (GRCm39)	missense	probably benign	0.39
R8734:Mdh2	UTSW	5	135,812,983 (GRCm39)	intron	probably benign
R8973:Mdh2	UTSW	5	135,819,019 (GRCm39)	missense	possibly damaging	0.71
Z1176:Mdh2	UTSW	5	135,818,483 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16