Mutagenetix > Incidental Mutation

Incidental Mutation 'R6532:Idh3b'

522401

Institutional Source

Beutler Lab

Gene Symbol

Idh3b

Ensembl Gene

ENSMUSG00000027406

Gene Name

isocitrate dehydrogenase 3 (NAD+) beta

Synonyms

MMRRC Submission

044658-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6532 (G1)

Quality Score

178.468

Status

Validated

Chromosome

Chromosomal Location

130121229-130126371 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

AG to AGCACCACAACTG at 130121593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028890] [ENSMUST00000028892] [ENSMUST00000103198] [ENSMUST00000159373] [ENSMUST00000136621] [ENSMUST00000184538]

AlphaFold

Q91VA7

Predicted Effect

probably benign
Transcript: ENSMUST00000028890

SMART Domains

Protein: ENSMUSP00000028890
Gene: ENSMUSG00000027405

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Nop	44	127	1.1e-26	PFAM
coiled coil region	131	176	N/A	INTRINSIC
low complexity region	185	204	N/A	INTRINSIC
low complexity region	213	228	N/A	INTRINSIC
low complexity region	242	264	N/A	INTRINSIC
low complexity region	280	292	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000028892

SMART Domains

Protein: ENSMUSP00000028892
Gene: ENSMUSG00000027406

Domain	Start	End	E-Value	Type
low complexity region	28	40	N/A	INTRINSIC
Iso_dh	49	375	1.43e-140	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083355

Predicted Effect

probably benign
Transcript: ENSMUST00000103198

SMART Domains

Protein: ENSMUSP00000099487
Gene: ENSMUSG00000027405

Domain	Start	End	E-Value	Type
Pfam:NOP5NT	5	70	4.3e-20	PFAM
NOSIC	167	219	1.18e-30	SMART
internal_repeat_1	257	305	4.06e-5	PROSPERO
coiled coil region	415	460	N/A	INTRINSIC
low complexity region	469	488	N/A	INTRINSIC
low complexity region	497	512	N/A	INTRINSIC
low complexity region	526	548	N/A	INTRINSIC
low complexity region	564	576	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153353

Predicted Effect

probably benign
Transcript: ENSMUST00000149955

SMART Domains

Protein: ENSMUSP00000123879
Gene: ENSMUSG00000027405

Domain	Start	End	E-Value	Type
NOSIC	2	35	1.24e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150745

Predicted Effect

probably benign
Transcript: ENSMUST00000159373

SMART Domains

Protein: ENSMUSP00000124080
Gene: ENSMUSG00000027405

Domain	Start	End	E-Value	Type
Pfam:Nop	10	94	6e-28	PFAM
coiled coil region	98	135	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145335

Predicted Effect

probably benign
Transcript: ENSMUST00000141872

SMART Domains

Protein: ENSMUSP00000125305
Gene: ENSMUSG00000027405

Domain	Start	End	E-Value	Type
Pfam:NOP5NT	14	79	3.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138163

Predicted Effect

probably benign
Transcript: ENSMUST00000146454

SMART Domains

Protein: ENSMUSP00000125304
Gene: ENSMUSG00000027405

Domain	Start	End	E-Value	Type
Pfam:Nop	1	152	7.8e-66	PFAM
coiled coil region	159	204	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150401

SMART Domains

Protein: ENSMUSP00000123890
Gene: ENSMUSG00000027405

Domain	Start	End	E-Value	Type
Pfam:Nop	26	103	3.9e-26	PFAM
coiled coil region	110	155	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124868

Predicted Effect

probably benign
Transcript: ENSMUST00000136621

SMART Domains

Protein: ENSMUSP00000124616
Gene: ENSMUSG00000027405

Domain	Start	End	E-Value	Type
Pfam:NOP5NT	4	70	3.6e-22	PFAM
NOSIC	167	219	1.18e-30	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000184538

SMART Domains

Protein: ENSMUSP00000139331
Gene: ENSMUSG00000027406

Domain	Start	End	E-Value	Type
Pfam:Iso_dh	6	71	1.8e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162063

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161025

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160976

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160183

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

100% (34/34)

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. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,626,803 (GRCm39)	L1418P	probably damaging	Het
Adal	A	G	2: 120,976,604 (GRCm39)		probably null	Het
Atr	T	A	9: 95,790,461 (GRCm39)	N1600K	probably benign	Het
Cubn	T	C	2: 13,463,813 (GRCm39)	T631A	probably benign	Het
Dpp9	C	T	17: 56,512,854 (GRCm39)	G118D	possibly damaging	Het
Ear1	C	T	14: 44,056,709 (GRCm39)	R53H	probably benign	Het
Exoc1	T	C	5: 76,685,684 (GRCm39)	V132A	probably damaging	Het
Fam227a	C	T	15: 79,520,921 (GRCm39)	R301Q	probably benign	Het
Garnl3	A	T	2: 32,921,131 (GRCm39)	M298K	possibly damaging	Het
Glb1l3	T	C	9: 26,729,738 (GRCm39)	D619G	probably benign	Het
Haspin	A	T	11: 73,028,377 (GRCm39)	C237*	probably null	Het
Hook1	T	G	4: 95,907,993 (GRCm39)		probably null	Het
Hoxa7	A	G	6: 52,194,295 (GRCm39)	F31L	probably benign	Het
Hoxb7	C	A	11: 96,177,714 (GRCm39)	S54*	probably null	Het
Ifi207	A	G	1: 173,557,211 (GRCm39)	V516A	possibly damaging	Het
Inca1	T	C	11: 70,586,733 (GRCm39)	M1V	probably null	Het
Kcnt2	A	G	1: 140,511,844 (GRCm39)	T933A	probably damaging	Het
Lama4	G	A	10: 38,924,073 (GRCm39)	D494N	possibly damaging	Het
Lrp1	A	C	10: 127,377,551 (GRCm39)	H4133Q	probably damaging	Het
Lrp1	A	G	10: 127,385,276 (GRCm39)	F3542L	probably damaging	Het
Myo1f	A	G	17: 33,794,820 (GRCm39)	D20G	probably damaging	Het
Nlk	G	T	11: 78,586,881 (GRCm39)	A71E	probably damaging	Het
Nvl	G	A	1: 180,971,708 (GRCm39)		probably null	Het
Or9m1	A	T	2: 87,733,546 (GRCm39)	I158N	probably damaging	Het
Pakap	T	C	4: 57,855,174 (GRCm39)	F168L	probably benign	Het
Pcnx1	C	A	12: 82,027,738 (GRCm39)	H1601N	probably damaging	Het
Pnkp	T	A	7: 44,506,829 (GRCm39)	M1K	probably null	Het
Skic2	G	A	17: 35,063,719 (GRCm39)	R575C	probably damaging	Het
Slc25a54	A	G	3: 109,019,368 (GRCm39)	Y324C	probably damaging	Het
Tdrd3	A	G	14: 87,743,252 (GRCm39)	E400G	probably damaging	Het
Unc5b	A	G	10: 60,614,607 (GRCm39)	I230T	possibly damaging	Het
Wfdc2	A	G	2: 164,405,296 (GRCm39)	T50A	probably benign	Het
Zfp563	A	G	17: 33,324,672 (GRCm39)	I422M	probably benign	Het

Other mutations in Idh3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01431:Idh3b	APN	2	130,123,817 (GRCm39)	missense	possibly damaging	0.87
IGL02821:Idh3b	APN	2	130,126,321 (GRCm39)	missense	probably benign	0.00
IGL03057:Idh3b	APN	2	130,126,321 (GRCm39)	missense	probably benign	0.00
IGL03106:Idh3b	APN	2	130,126,321 (GRCm39)	missense	probably benign	0.00
IGL03159:Idh3b	APN	2	130,126,321 (GRCm39)	missense	probably benign	0.00
R0090:Idh3b	UTSW	2	130,122,899 (GRCm39)	missense	probably benign	0.01
R1191:Idh3b	UTSW	2	130,123,810 (GRCm39)	missense	probably benign	0.43
R1443:Idh3b	UTSW	2	130,125,974 (GRCm39)	splice site	probably null
R1634:Idh3b	UTSW	2	130,123,665 (GRCm39)	missense	probably benign	0.39
R1644:Idh3b	UTSW	2	130,123,430 (GRCm39)	missense	possibly damaging	0.95
R5784:Idh3b	UTSW	2	130,121,591 (GRCm39)	missense	probably damaging	1.00
R5847:Idh3b	UTSW	2	130,125,948 (GRCm39)	missense	probably benign	0.00
R6469:Idh3b	UTSW	2	130,121,593 (GRCm39)	frame shift	probably null
R6473:Idh3b	UTSW	2	130,121,593 (GRCm39)	frame shift	probably null
R6536:Idh3b	UTSW	2	130,121,593 (GRCm39)	frame shift	probably null
R6959:Idh3b	UTSW	2	130,123,447 (GRCm39)	missense	probably damaging	1.00
R7019:Idh3b	UTSW	2	130,122,886 (GRCm39)	missense	probably damaging	1.00
R7305:Idh3b	UTSW	2	130,123,413 (GRCm39)	missense	possibly damaging	0.89
R7505:Idh3b	UTSW	2	130,126,153 (GRCm39)	missense	probably benign
R7505:Idh3b	UTSW	2	130,126,147 (GRCm39)	missense	probably benign
R7608:Idh3b	UTSW	2	130,122,900 (GRCm39)	missense	probably damaging	1.00
R7887:Idh3b	UTSW	2	130,123,678 (GRCm39)	missense	probably damaging	1.00
R8165:Idh3b	UTSW	2	130,122,420 (GRCm39)	missense	possibly damaging	0.73
R8880:Idh3b	UTSW	2	130,126,004 (GRCm39)	unclassified	probably benign
R9338:Idh3b	UTSW	2	130,122,392 (GRCm39)	missense	probably damaging	0.98
R9445:Idh3b	UTSW	2	130,123,572 (GRCm39)	missense	probably benign	0.02
Z1176:Idh3b	UTSW	2	130,123,462 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATCATCTTAGGGTCTGGGCC -3'
(R):5'- TTACAGGCAGGGTTAGCTGC -3'

Sequencing Primer
(F):5'- TGGGCCTTGTCGCAACAAC -3'
(R):5'- GGTCTCATTTCTTGCAAGGTAAC -3'

Posted On

2018-06-06