Mutagenetix > Incidental Mutation

Incidental Mutation 'R8243:Ivd'

637634

Institutional Source

Beutler Lab

Gene Symbol

Ivd

Ensembl Gene

ENSMUSG00000027332

Gene Name

isovaleryl coenzyme A dehydrogenase

Synonyms

6720455E18Rik, 1300016K07Rik

MMRRC Submission

067648-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118692475-118713388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118702018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 150 (Y150C)

Ref Sequence

ENSEMBL: ENSMUSP00000028807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028807]

AlphaFold

Q9JHI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028807
AA Change: Y150C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028807
Gene: ENSMUSG00000027332
AA Change: Y150C

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
Pfam:Acyl-CoA_dh_N	44	158	9.4e-40	PFAM
Pfam:Acyl-CoA_dh_M	162	259	8.1e-31	PFAM
Pfam:Acyl-CoA_dh_1	271	419	2e-42	PFAM
Pfam:Acyl-CoA_dh_2	286	409	6.7e-13	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.7%
20x: 96.0%

Validation Efficiency

100% (47/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	A	11: 46,015,909 (GRCm39)	H356Q	probably damaging	Het
BC030500	T	C	8: 59,365,388 (GRCm39)	I13T	unknown	Het
Bcl6	C	T	16: 23,786,883 (GRCm39)	C636Y	probably damaging	Het
Cabyr	G	T	18: 12,883,759 (GRCm39)	C82F	probably benign	Het
Clec4a1	T	C	6: 122,901,778 (GRCm39)	V70A	possibly damaging	Het
Col11a1	C	T	3: 113,855,141 (GRCm39)	P134S	unknown	Het
Col27a1	A	G	4: 63,144,120 (GRCm39)	T603A	probably damaging	Het
Col6a6	T	C	9: 105,576,468 (GRCm39)	D1964G	probably damaging	Het
Dnajc8	A	G	4: 132,278,775 (GRCm39)		probably null	Het
E330034G19Rik	T	C	14: 24,358,360 (GRCm39)	Y318H		Het
Efemp1	T	A	11: 28,871,690 (GRCm39)	S402T	probably damaging	Het
Emcn	T	C	3: 137,097,411 (GRCm39)	V110A	possibly damaging	Het
Fgd5	C	T	6: 91,966,004 (GRCm39)	L746F	possibly damaging	Het
Gna13	A	G	11: 109,287,239 (GRCm39)	N354S	probably damaging	Het
Helq	G	T	5: 100,918,348 (GRCm39)	S855R	possibly damaging	Het
Hps5	G	T	7: 46,436,066 (GRCm39)	A160E	probably damaging	Het
Igfbp7	T	A	5: 77,549,339 (GRCm39)	E188V	probably benign	Het
Jade2	T	C	11: 51,708,045 (GRCm39)	T723A	probably benign	Het
Kif1b	T	C	4: 149,288,724 (GRCm39)	N1239S	probably benign	Het
Klb	A	G	5: 65,536,338 (GRCm39)	N556S	possibly damaging	Het
Klhdc8a	C	T	1: 132,230,304 (GRCm39)	R140C	possibly damaging	Het
Klhl2	T	A	8: 65,202,084 (GRCm39)	M531L	probably benign	Het
Mark3	T	A	12: 111,613,956 (GRCm39)	S546R	possibly damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Musk	G	A	4: 58,293,600 (GRCm39)	R63K	probably benign	Het
Nacad	C	T	11: 6,552,643 (GRCm39)	E183K	probably damaging	Het
Oasl1	T	C	5: 115,066,220 (GRCm39)	Y113H	probably benign	Het
Or10g9b	A	T	9: 39,917,484 (GRCm39)	C254S	probably benign	Het
Or1x2	C	T	11: 50,918,138 (GRCm39)	T103M	probably benign	Het
Or4c111	T	A	2: 88,844,051 (GRCm39)	Y119F	probably benign	Het
Or51ab3	A	T	7: 103,201,205 (GRCm39)	D71V	probably damaging	Het
Or8b56	A	G	9: 38,739,803 (GRCm39)	E272G		Het
P4hb	T	C	11: 120,454,206 (GRCm39)	D296G	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekhh1	G	A	12: 79,125,843 (GRCm39)	R1293H	probably benign	Het
Prss21	A	G	17: 24,088,376 (GRCm39)	T114A	probably damaging	Het
Ptprn	T	C	1: 75,229,179 (GRCm39)	D776G	probably damaging	Het
Rffl	A	G	11: 82,703,621 (GRCm39)	C101R	probably damaging	Het
Rundc1	A	G	11: 101,316,384 (GRCm39)	D152G	probably benign	Het
Sema6c	A	G	3: 95,079,916 (GRCm39)	T737A	probably damaging	Het
Sppl2c	A	G	11: 104,078,687 (GRCm39)	T496A	probably damaging	Het
Supt7l	T	C	5: 31,673,013 (GRCm39)	I412V	probably benign	Het
Trim38	T	A	13: 23,975,378 (GRCm39)	I439N	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Usp18	G	A	6: 121,246,103 (GRCm39)	R353H	probably benign	Het
Usp42	T	C	5: 143,700,849 (GRCm39)	K1058R	probably benign	Het
Utp25	T	C	1: 192,796,937 (GRCm39)	D598G	probably benign	Het

Other mutations in Ivd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Ivd	APN	2	118,707,383 (GRCm39)	missense	probably benign	0.06
IGL01122:Ivd	APN	2	118,707,361 (GRCm39)	splice site	probably benign
IGL01634:Ivd	APN	2	118,706,863 (GRCm39)	missense	probably damaging	1.00
IGL02178:Ivd	APN	2	118,701,915 (GRCm39)	missense	probably benign	0.00
IGL02478:Ivd	APN	2	118,692,572 (GRCm39)	missense	probably benign	0.21
IGL03104:Ivd	APN	2	118,703,384 (GRCm39)	missense	probably benign	0.01
R1335:Ivd	UTSW	2	118,699,923 (GRCm39)	missense	probably benign	0.00
R1823:Ivd	UTSW	2	118,692,515 (GRCm39)	missense	probably benign	0.05
R2008:Ivd	UTSW	2	118,701,981 (GRCm39)	missense	probably benign	0.00
R3162:Ivd	UTSW	2	118,692,650 (GRCm39)	critical splice donor site	probably null
R3162:Ivd	UTSW	2	118,692,650 (GRCm39)	critical splice donor site	probably null
R5011:Ivd	UTSW	2	118,710,946 (GRCm39)	missense	probably damaging	1.00
R5013:Ivd	UTSW	2	118,710,946 (GRCm39)	missense	probably damaging	1.00
R5946:Ivd	UTSW	2	118,707,370 (GRCm39)	missense	possibly damaging	0.49
R6810:Ivd	UTSW	2	118,700,242 (GRCm39)	missense	probably benign
R7055:Ivd	UTSW	2	118,703,730 (GRCm39)	missense	probably damaging	0.99
R7131:Ivd	UTSW	2	118,700,255 (GRCm39)	missense	probably damaging	1.00
R7173:Ivd	UTSW	2	118,701,870 (GRCm39)	missense	probably damaging	1.00
R7302:Ivd	UTSW	2	118,701,985 (GRCm39)	missense	probably benign	0.04
R7490:Ivd	UTSW	2	118,707,373 (GRCm39)	missense	possibly damaging	0.94
R7583:Ivd	UTSW	2	118,692,612 (GRCm39)	missense	probably damaging	0.96
R8362:Ivd	UTSW	2	118,708,422 (GRCm39)	missense	probably damaging	1.00
R9188:Ivd	UTSW	2	118,710,942 (GRCm39)	missense	probably damaging	1.00
R9428:Ivd	UTSW	2	118,708,369 (GRCm39)	missense	probably damaging	0.97
R9785:Ivd	UTSW	2	118,710,970 (GRCm39)	missense	probably damaging	1.00
Z1176:Ivd	UTSW	2	118,706,825 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CTCCCAGTTCAGTATGGTGG -3'
(R):5'- GTTACTCATCCAACTCACAAGTTAAGC -3'

Sequencing Primer
(F):5'- CCCAGTTCAGTATGGTGGCTCTG -3'
(R):5'- AGCCACCATATATGTGCTGG -3'

Posted On

2020-07-13