Mutagenetix > Incidental Mutation

Incidental Mutation 'R6469:Idh3b'

520240

Institutional Source

Beutler Lab

Gene Symbol

Idh3b

Ensembl Gene

ENSMUSG00000027406

Gene Name

isocitrate dehydrogenase 3 (NAD+) beta

Synonyms

MMRRC Submission

044602-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6469 (G1)

Quality Score

126.467

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: 91.3%

Validation Efficiency

100% (43/43)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	G	3: 137,772,736 (GRCm39)	S642A	probably damaging	Het
Aadacl2	A	T	3: 59,932,210 (GRCm39)	T242S	probably benign	Het
Adprh	T	C	16: 38,270,671 (GRCm39)	M45V	probably benign	Het
Akr1c13	T	C	13: 4,246,511 (GRCm39)		probably null	Het
Ap3d1	A	C	10: 80,547,992 (GRCm39)	V900G	probably benign	Het
Bak1	G	A	17: 27,240,293 (GRCm39)	R125C	probably damaging	Het
Bmpr1b	T	C	3: 141,562,222 (GRCm39)	T322A	possibly damaging	Het
Camsap3	T	A	8: 3,653,941 (GRCm39)	L521Q	possibly damaging	Het
Col6a6	A	T	9: 105,575,890 (GRCm39)	F2157I	probably damaging	Het
Dcun1d4	G	A	5: 73,691,957 (GRCm39)	M155I	probably damaging	Het
Diaph3	T	C	14: 86,893,974 (GRCm39)	S12G	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fgb	A	T	3: 82,953,449 (GRCm39)	L107*	probably null	Het
Ganab	T	C	19: 8,879,996 (GRCm39)		probably null	Het
Gba1	C	T	3: 89,111,388 (GRCm39)	P51L	probably benign	Het
Glb1l2	T	C	9: 26,707,828 (GRCm39)	D60G	probably benign	Het
Itih2	A	G	2: 10,128,224 (GRCm39)	V159A	possibly damaging	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Lrch1	C	T	14: 75,054,525 (GRCm39)	R323Q	probably damaging	Het
Lrrc30	T	C	17: 67,938,860 (GRCm39)	N240S	probably benign	Het
Mrgpra9	T	C	7: 46,884,854 (GRCm39)	Y271C	probably benign	Het
Ncor1	T	C	11: 62,234,128 (GRCm39)	H682R	probably damaging	Het
Or14j4	A	T	17: 37,921,204 (GRCm39)	V146E	probably damaging	Het
Pax9	C	A	12: 56,743,648 (GRCm39)	F98L	probably damaging	Het
Phlpp1	G	A	1: 106,214,833 (GRCm39)	R585Q	probably damaging	Het
Prkdc	A	G	16: 15,612,939 (GRCm39)	T3166A	probably benign	Het
Prr11	T	A	11: 86,988,003 (GRCm39)	Q300L	possibly damaging	Het
Rad50	T	A	11: 53,575,062 (GRCm39)	E620D	probably benign	Het
Rpl3	A	T	15: 79,967,546 (GRCm39)		probably null	Het
Sacs	G	T	14: 61,428,697 (GRCm39)	G252V	probably damaging	Het
Serpina3i	T	A	12: 104,232,776 (GRCm39)	V227E	probably damaging	Het
Smap2	GACTCTAC	GAC	4: 120,830,282 (GRCm39)		probably benign	Het
Snx19	T	C	9: 30,339,039 (GRCm39)	V59A	possibly damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Tcstv2c	T	A	13: 120,616,349 (GRCm39)	W63R	probably damaging	Het
Tsc1	G	A	2: 28,561,898 (GRCm39)		probably null	Het
Vmn2r61	C	T	7: 41,915,283 (GRCm39)	Q77*	probably null	Het
Wdr72	A	G	9: 74,120,643 (GRCm39)	H954R	probably benign	Het
Zbtb21	T	C	16: 97,757,972 (GRCm39)	M20V	probably benign	Het
Zkscan16	A	T	4: 58,956,483 (GRCm39)	D255V	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
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'- ATCATCTTAGGGTCTGGGCC -3'
(R):5'- TTACAGGCAGGGTTAGCTGC -3'

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

Posted On

2018-06-06