Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01431:Idh3b'

84106

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Idh3b

Ensembl Gene

ENSMUSG00000027406

Gene Name

isocitrate dehydrogenase 3 (NAD+) beta

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01431

Quality Score

Status

Chromosome

Chromosomal Location

130121229-130126371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130123817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 116 (T116A)

Ref Sequence

ENSEMBL: ENSMUSP00000028892 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000028892
AA Change: T116A

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028892
Gene: ENSMUSG00000027406
AA Change: T116A

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: 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: ENSMUST00000124868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160976

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161025

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162063

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

probably benign
Transcript: ENSMUST00000143547

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

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: 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 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: ENSMUST00000175746

Predicted Effect

probably benign
Transcript: ENSMUST00000184538

SMART Domains

Protein: ENSMUSP00000139331
Gene: ENSMUSG00000027406

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

Coding Region Coverage

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,089,838 (GRCm39)	I897T	possibly damaging	Het
Aqp2	G	A	15: 99,477,301 (GRCm39)	V90M	possibly damaging	Het
Atf6	T	C	1: 170,680,571 (GRCm39)		probably benign	Het
Cdh3	T	C	8: 107,274,301 (GRCm39)	Y607H	probably damaging	Het
Cer1	T	A	4: 82,801,068 (GRCm39)	E198D	probably benign	Het
Dscam	A	G	16: 96,453,278 (GRCm39)		probably null	Het
Ecel1	C	T	1: 87,079,226 (GRCm39)	R484H	probably damaging	Het
Entpd7	C	A	19: 43,718,278 (GRCm39)	H575Q	probably benign	Het
F11r	T	C	1: 171,290,477 (GRCm39)	V279A	probably damaging	Het
Gm17093	T	A	14: 44,759,122 (GRCm39)		probably benign	Het
Got1	T	A	19: 43,491,488 (GRCm39)	K321*	probably null	Het
Gpn1	T	C	5: 31,664,882 (GRCm39)	V302A	probably benign	Het
Hivep1	G	T	13: 42,311,493 (GRCm39)	K1244N	probably damaging	Het
Itgb4	C	A	11: 115,897,283 (GRCm39)		probably benign	Het
Mybl1	G	T	1: 9,742,872 (GRCm39)	L579I	probably damaging	Het
Myh14	T	A	7: 44,263,782 (GRCm39)	T1694S	probably null	Het
Mylk3	T	C	8: 86,063,030 (GRCm39)	D537G	probably damaging	Het
Myo1d	A	C	11: 80,565,665 (GRCm39)	F387V	probably damaging	Het
Nek9	T	C	12: 85,361,361 (GRCm39)	Y448C	probably benign	Het
Or8k40	A	T	2: 86,584,508 (GRCm39)	H191Q	probably benign	Het
Paxbp1	T	C	16: 90,832,804 (GRCm39)		probably benign	Het
Potefam1	A	T	2: 111,055,740 (GRCm39)		probably benign	Het
Retreg2	T	A	1: 75,121,749 (GRCm39)		probably null	Het
Ripply3	G	A	16: 94,129,402 (GRCm39)	C16Y	possibly damaging	Het
Robo3	G	A	9: 37,330,407 (GRCm39)		probably benign	Het
Rrm1	C	A	7: 102,106,759 (GRCm39)		probably benign	Het
Rsad2	T	A	12: 26,498,666 (GRCm39)	R269S	probably benign	Het
Sbp	A	T	17: 24,164,322 (GRCm39)		probably benign	Het
Schip1	A	T	3: 68,525,110 (GRCm39)	Q162L	probably damaging	Het
Senp1	T	C	15: 97,980,144 (GRCm39)	Y67C	probably damaging	Het
Slc25a25	C	T	2: 32,309,103 (GRCm39)	R233K	probably damaging	Het
Smoc1	C	A	12: 81,199,525 (GRCm39)	S220*	probably null	Het
Stab1	C	A	14: 30,870,952 (GRCm39)	R1299I	probably benign	Het
Stk17b	A	G	1: 53,805,074 (GRCm39)		probably benign	Het
Tmc7	T	G	7: 118,151,985 (GRCm39)	D312A	probably damaging	Het
Vmn1r79	T	C	7: 11,910,327 (GRCm39)	S70P	possibly damaging	Het
Zfc3h1	C	A	10: 115,259,128 (GRCm39)	T1591K	possibly damaging	Het

Other mutations in Idh3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6532: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

Posted On

2013-11-11