Mutagenetix > Incidental Mutation

Incidental Mutation 'R6536:Idh3b'

520389

Institutional Source

Beutler Lab

Gene Symbol

Idh3b

Ensembl Gene

ENSMUSG00000027406

Gene Name

isocitrate dehydrogenase 3 (NAD+) beta

Synonyms

MMRRC Submission

044662-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6536 (G1)

Quality Score

217.468

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (36/36)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	G	T	11: 48,910,550 (GRCm39)	H628N	probably benign	Het
Abcb1a	T	A	5: 8,769,030 (GRCm39)	F751I	probably benign	Het
Adamts13	G	A	2: 26,865,762 (GRCm39)	V106M	probably damaging	Het
Add1	C	A	5: 34,758,780 (GRCm39)	N31K	possibly damaging	Het
Adgrf5	G	T	17: 43,733,552 (GRCm39)		probably benign	Het
Akap11	T	G	14: 78,748,754 (GRCm39)	D1211A	possibly damaging	Het
Atp5f1c	G	A	2: 10,085,127 (GRCm39)		probably benign	Het
Cd320	T	C	17: 34,066,477 (GRCm39)	S72P	probably benign	Het
Clca4b	C	A	3: 144,622,490 (GRCm39)	W525L	possibly damaging	Het
Cripto	A	T	9: 110,773,257 (GRCm39)		probably null	Het
Csmd3	G	A	15: 47,701,863 (GRCm39)	T1740I	probably damaging	Het
Dnah7c	T	G	1: 46,697,450 (GRCm39)	S2122A	probably benign	Het
Enpp2	T	C	15: 54,726,027 (GRCm39)	N583S	probably damaging	Het
Fcsk	A	G	8: 111,610,511 (GRCm39)	V964A	possibly damaging	Het
Gpd2	A	T	2: 57,235,367 (GRCm39)	I366F	probably benign	Het
Hsd17b2	G	A	8: 118,428,921 (GRCm39)	V63M	possibly damaging	Het
Hsdl2	A	T	4: 59,610,508 (GRCm39)		probably null	Het
Ifi44	A	G	3: 151,438,126 (GRCm39)	V387A	probably benign	Het
Kcnc4	T	C	3: 107,355,512 (GRCm39)	D312G	possibly damaging	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Klra6	C	T	6: 130,000,682 (GRCm39)	V41I	probably benign	Het
Lrp1	A	G	10: 127,393,937 (GRCm39)		probably null	Het
Mpdz	T	C	4: 81,301,654 (GRCm39)	E257G	probably damaging	Het
Or10v1	T	C	19: 11,873,760 (GRCm39)	V125A	probably benign	Het
Or4f14	T	C	2: 111,743,119 (GRCm39)	D52G	possibly damaging	Het
Papln	A	G	12: 83,828,661 (GRCm39)	Y789C	probably damaging	Het
Pcdh15	T	C	10: 74,467,221 (GRCm39)	L1680P	probably damaging	Het
Pcdhac1	A	G	18: 37,223,367 (GRCm39)	N60S	probably benign	Het
Polr3g	T	C	13: 81,826,335 (GRCm39)	N162S	unknown	Het
Pou3f3	A	G	1: 42,737,374 (GRCm39)	I357V	probably damaging	Het
Sycp2	A	G	2: 177,993,441 (GRCm39)	S1235P	probably damaging	Het
Tns3	A	T	11: 8,384,531 (GRCm39)	V1429E	probably damaging	Het
Trim67	T	C	8: 125,521,081 (GRCm39)	S148P	possibly damaging	Het
Usp49	A	T	17: 47,990,617 (GRCm39)	I348F	probably damaging	Het
Wac	A	T	18: 7,905,189 (GRCm39)		probably null	Het
Zfp775	A	G	6: 48,596,543 (GRCm39)	K139R	probably 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
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
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