Mutagenetix > Incidental Mutations

Incidental Mutation 'R2135:Idh1'

235697

Institutional Source

Beutler Lab

Gene Symbol

Idh1

Ensembl Gene

ENSMUSG00000025950

Gene Name

isocitrate dehydrogenase 1 (NADP+), soluble

Synonyms

Id-1, Idh-1, IDPc, E030024J03Rik

MMRRC Submission

040138-MU

Accession Numbers

Genbank: NM_001111320, NM_010497

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65158616-65186500 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 65161919 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 291 (M291R)

Ref Sequence

ENSEMBL: ENSMUSP00000127307 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097709] [ENSMUST00000169032] [ENSMUST00000188109] [ENSMUST00000188876]

Predicted Effect

probably damaging
Transcript: ENSMUST00000097709
AA Change: M291R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095316
Gene: ENSMUSG00000025950
AA Change: M291R

Domain	Start	End	E-Value	Type
Iso_dh	9	401	1.05e-133	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169032
AA Change: M291R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127307
Gene: ENSMUSG00000025950
AA Change: M291R

Domain	Start	End	E-Value	Type
Iso_dh	9	401	1.05e-133	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188109

SMART Domains

Protein: ENSMUSP00000140757
Gene: ENSMUSG00000025950

Domain	Start	End	E-Value	Type
Iso_dh	9	202	1.1e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188876

SMART Domains

Protein: ENSMUSP00000139906
Gene: ENSMUSG00000025950

Domain	Start	End	E-Value	Type
Iso_dh	9	187	2.2e-9	SMART

Meta Mutation Damage Score

0.9624

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Electrophoretic variation has been shown in tissues of liver, kidney, spleen and muscle. Strains C57BL/6, C3H/He carry the a allele; DBA/2 carries the b allele; M.m. castaneus and M.m. molossinus carry the c allele; the d allele is found at low frequencyin M. m. molossinus in Japan. [provided by MGI curators]

Allele List at MGI

All alleles(14) : Targeted, other(3) Gene trapped(11)

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,737,643	H116Q	probably benign	Het
9230110F15Rik	A	C	9: 35,839,183		probably null	Het
Adamts16	C	A	13: 70,801,007	L178F	probably damaging	Het
Adgrv1	A	G	13: 81,524,557		probably null	Het
Akap9	A	G	5: 4,064,509	T46A	probably damaging	Het
Ankrd2	T	C	19: 42,044,059	L253P	probably damaging	Het
Arap3	T	C	18: 37,974,456	D1336G	probably damaging	Het
Cacna2d2	C	A	9: 107,526,513	L992I	possibly damaging	Het
Cdhr2	T	A	13: 54,720,947	I574N	probably damaging	Het
Cecr2	C	T	6: 120,720,962	T74M	probably damaging	Het
Ces5a	C	A	8: 93,499,741	E481D	probably benign	Het
Cfap74	C	G	4: 155,429,940	N544K	probably damaging	Het
Cfap74	T	A	4: 155,429,951	L548Q	probably damaging	Het
Cfb	C	T	17: 34,857,278	V1145I	possibly damaging	Het
CK137956	A	G	4: 127,951,640		probably benign	Het
Commd10	T	A	18: 46,990,537	L153Q	possibly damaging	Het
Cox6c	T	C	15: 35,937,283		probably benign	Het
Dock4	A	G	12: 40,745,668	Y828C	probably benign	Het
Ermp1	T	C	19: 29,646,065	D119G	possibly damaging	Het
Ext1	G	T	15: 53,101,744	Q409K	possibly damaging	Het
Fat4	A	T	3: 38,980,733	I2845F	probably damaging	Het
Frmd6	A	G	12: 70,894,997	N494S	probably benign	Het
Fscn3	A	G	6: 28,431,584	T305A	probably benign	Het
Gbx1	G	T	5: 24,526,222	R199S	possibly damaging	Het
Gm11437	T	C	11: 84,153,812	R192G	probably damaging	Het
Gucy2c	T	A	6: 136,723,728	D572V	probably damaging	Het
Kcnt2	A	G	1: 140,428,813	Y330C	probably damaging	Het
Kdm4a	A	G	4: 118,142,459	L922P	probably damaging	Het
L3mbtl2	A	G	15: 81,682,014	D346G	possibly damaging	Het
Lsm14a	A	G	7: 34,371,184	S96P	probably damaging	Het
Ltn1	A	G	16: 87,382,713	L1520P	probably damaging	Het
March6	A	T	15: 31,509,764	C26*	probably null	Het
Msra	G	A	14: 64,123,208	P228L	probably damaging	Het
Mycbp2	A	T	14: 103,145,942	D395E	probably benign	Het
Mycbp2	T	C	14: 103,208,893	Y1800C	probably damaging	Het
Ncr1	C	A	7: 4,340,757		probably benign	Het
Nkd1	T	C	8: 88,591,650	I201T	probably benign	Het
Nsrp1	A	T	11: 77,055,008		probably benign	Het
Olfr330	A	C	11: 58,529,785	I67S	probably damaging	Het
Olfr873	T	A	9: 20,300,297	D32E	probably benign	Het
Pkdrej	T	C	15: 85,816,506	Y1743C	probably damaging	Het
Plekha5	T	A	6: 140,580,499	H281Q	possibly damaging	Het
Ppp2r3a	A	C	9: 101,211,558	M522R	probably damaging	Het
Prdm12	T	C	2: 31,640,313	F72S	possibly damaging	Het
Prima1	A	T	12: 103,202,690	F106L	probably damaging	Het
Ptchd4	A	G	17: 42,317,074	H142R	probably benign	Het
Rasgrf2	G	A	13: 91,972,255	A793V	probably benign	Het
Rbsn	T	A	6: 92,189,873	M597L	probably benign	Het
Ripk4	A	T	16: 97,743,733	D571E	probably damaging	Het
Rp9	T	C	9: 22,468,129	K25E	possibly damaging	Het
Sec31b	T	C	19: 44,534,696	S211G	probably damaging	Het
Shank2	C	T	7: 144,411,234	P1070S	probably damaging	Het
Sla	A	G	15: 66,782,714	V241A	probably benign	Het
Slc25a40	A	G	5: 8,427,489	T25A	possibly damaging	Het
Slc3a2	A	G	19: 8,708,244	S164P	probably benign	Het
Slc7a5	A	T	8: 121,883,705	W457R	probably null	Het
Slco6c1	A	G	1: 97,104,817	M303T	probably benign	Het
Smim10l1	T	C	6: 133,105,526	F12S	probably damaging	Het
Syne2	A	G	12: 75,952,786	I2318V	probably damaging	Het
Tecta	A	C	9: 42,340,285	C1781G	probably damaging	Het
Timmdc1	A	T	16: 38,498,951	H280Q	probably benign	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tmem30b	A	G	12: 73,545,333	L336P	probably damaging	Het
Tmem94	A	G	11: 115,794,749	I943V	probably benign	Het
Tshb	A	G	3: 102,778,148		probably null	Het
Vcpip1	A	G	1: 9,747,810	V116A	probably benign	Het
Vmn2r76	A	G	7: 86,231,011	Y156H	probably benign	Het
Zcrb1	T	C	15: 93,397,186	N23S	probably damaging	Het
Zfyve26	T	C	12: 79,246,052	R2108G	possibly damaging	Het

Other mutations in Idh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Idh1	APN	1	65166243	missense	probably damaging	1.00
IGL00790:Idh1	APN	1	65166122	missense	possibly damaging	0.94
IGL00979:Idh1	APN	1	65171149	missense	probably damaging	1.00
IGL01397:Idh1	APN	1	65168595	missense	possibly damaging	0.62
IGL02226:Idh1	APN	1	65161922	missense	probably damaging	1.00
IGL02933:Idh1	APN	1	65161913	missense	probably damaging	1.00
B5639:Idh1	UTSW	1	65165098	critical splice donor site	probably null
R0310:Idh1	UTSW	1	65161920	missense	probably damaging	1.00
R0865:Idh1	UTSW	1	65161156	missense	probably benign
R1172:Idh1	UTSW	1	65161160	missense	probably benign	0.00
R1173:Idh1	UTSW	1	65161160	missense	probably benign	0.00
R1174:Idh1	UTSW	1	65161160	missense	probably benign	0.00
R1535:Idh1	UTSW	1	65168538	missense	probably damaging	1.00
R1833:Idh1	UTSW	1	65161114	missense	probably benign
R5434:Idh1	UTSW	1	65175336	missense	probably benign	0.00
R5478:Idh1	UTSW	1	65161838	missense	probably benign	0.04
R5633:Idh1	UTSW	1	65165136	missense	probably damaging	1.00
R6152:Idh1	UTSW	1	65159530	missense	probably damaging	1.00
R6249:Idh1	UTSW	1	65166219	missense	probably damaging	1.00
R6252:Idh1	UTSW	1	65168531	missense	probably benign
R7238:Idh1	UTSW	1	65166125	missense	probably damaging	1.00
R7754:Idh1	UTSW	1	65159490	missense	probably benign	0.00
R7819:Idh1	UTSW	1	65165118	missense	probably damaging	1.00
R8064:Idh1	UTSW	1	65166179	missense	probably damaging	1.00
R8078:Idh1	UTSW	1	65161066	missense	probably damaging	0.97
R8187:Idh1	UTSW	1	65159541	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCAAAGGTACGCGTCTCAG -3'
(R):5'- GTTTGATTCAAACTCGAAGCTGGG -3'

Sequencing Primer
(F):5'- GTACGCGTCTCAGTTCCTTTGAG -3'
(R):5'- GGCCCTGCATTCTGAAGAG -3'

Posted On

2014-10-01