Mutagenetix > Incidental Mutation

Incidental Mutation 'R1191:Idh3b'

100775

Institutional Source

Beutler Lab

Gene Symbol

Idh3b

Ensembl Gene

ENSMUSG00000027406

Gene Name

isocitrate dehydrogenase 3 (NAD+) beta

Synonyms

MMRRC Submission

039263-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130121229-130126371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130123810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 118 (M118K)

Ref Sequence

ENSEMBL: ENSMUSP00000028892 (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 benign
Transcript: ENSMUST00000028892
AA Change: M118K

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028892
Gene: ENSMUSG00000027406
AA Change: M118K

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: ENSMUST00000162063

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: ENSMUST00000149843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160976

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: 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

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: ENSMUST00000143547

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: 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

1x: 99.4%
3x: 98.3%
10x: 95.1%
20x: 87.9%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd27	T	C	7: 35,301,912 (GRCm39)	F144L	probably damaging	Het
C8b	C	T	4: 104,650,520 (GRCm39)	P377S	probably damaging	Het
Cfi	C	A	3: 129,662,176 (GRCm39)	T385N	probably benign	Het
Col15a1	G	T	4: 47,254,083 (GRCm39)	G300*	probably null	Het
Crlf1	G	A	8: 70,951,478 (GRCm39)	C119Y	probably damaging	Het
Dcaf4	A	T	12: 83,582,741 (GRCm39)	S279C	probably damaging	Het
Gde1	A	T	7: 118,304,664 (GRCm39)	H70Q	probably damaging	Het
Gpt2	A	T	8: 86,235,901 (GRCm39)	N179I	probably damaging	Het
Grik5	G	A	7: 24,757,750 (GRCm39)	Q410*	probably null	Het
Hspa2	C	T	12: 76,452,655 (GRCm39)	R450W	probably damaging	Het
Ighv5-21	T	C	12: 114,286,423 (GRCm39)		probably benign	Het
Il12rb2	C	T	6: 67,275,200 (GRCm39)	V642M	possibly damaging	Het
Iqcg	A	G	16: 32,870,313 (GRCm39)	V60A	probably benign	Het
Irx6	T	A	8: 93,403,580 (GRCm39)	Y102N	probably damaging	Het
Itgb6	C	T	2: 60,483,481 (GRCm39)		probably null	Het
Mmp27	A	T	9: 7,579,067 (GRCm39)		probably null	Het
Or10d5j	A	T	9: 39,868,264 (GRCm39)	M1K	probably null	Het
Or1j21	T	A	2: 36,683,350 (GRCm39)	M34K	probably damaging	Het
Or2f2	C	A	6: 42,767,451 (GRCm39)	H159Q	probably benign	Het
Or5k8	T	A	16: 58,644,922 (GRCm39)	Y50F	probably benign	Het
Or8c8	G	T	9: 38,165,501 (GRCm39)	V263F	probably damaging	Het
Pcdhb16	A	G	18: 37,612,926 (GRCm39)	R629G	probably damaging	Het
Pde3b	A	T	7: 114,118,810 (GRCm39)	M650L	probably benign	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Skint3	T	A	4: 112,092,939 (GRCm39)	M1K	probably null	Het
Strn	T	C	17: 78,999,855 (GRCm39)	Q127R	possibly damaging	Het
Taar2	T	G	10: 23,816,927 (GRCm39)	W156G	probably damaging	Het
Trpt1	G	T	19: 6,974,138 (GRCm39)	M45I	probably benign	Het
Ubap2l	T	C	3: 89,930,882 (GRCm39)	T357A	probably damaging	Het
Ubr3	C	T	2: 69,851,525 (GRCm39)	R1831*	probably null	Het
Unc79	T	A	12: 103,013,271 (GRCm39)	Y287*	probably null	Het
Utrn	T	A	10: 12,509,777 (GRCm39)	K2398N	probably benign	Het
Vav2	A	T	2: 27,182,792 (GRCm39)		probably null	Het
Vps9d1	A	T	8: 123,974,706 (GRCm39)	H249Q	possibly damaging	Het
Vwf	T	A	6: 125,576,215 (GRCm39)	C432S	probably damaging	Het
Zfp369	T	A	13: 65,439,776 (GRCm39)	Y153*	probably null	Het
Zfp760	C	T	17: 21,942,286 (GRCm39)	P487L	probably damaging	Het
Zswim2	A	C	2: 83,754,039 (GRCm39)	V207G	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GCCGAGTCTTGTATCCAGGAAGTG -3'
(R):5'- TGGTTTTGACTGATACCCTGTTGCC -3'

Sequencing Primer
(F):5'- TGTATCCAGGAAGTGACTTCACG -3'
(R):5'- TATGAAGTCAGTGGGGAGACTG -3'

Posted On

2014-01-15