Mutagenetix > Incidental Mutation

Incidental Mutation 'R9188:Ivd'

697494

Institutional Source

Beutler Lab

Gene Symbol

Ivd

Ensembl Gene

ENSMUSG00000027332

Gene Name

isovaleryl coenzyme A dehydrogenase

Synonyms

6720455E18Rik, 1300016K07Rik

MMRRC Submission

068980-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9188 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118692475-118713388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 118710942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 384 (G384C)

Ref Sequence

ENSEMBL: ENSMUSP00000028807 (fasta)

Gene Model

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

AlphaFold

Q9JHI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028807
AA Change: G384C

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

SMART Domains

Protein: ENSMUSP00000028807
Gene: ENSMUSG00000027332
AA Change: G384C

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (71/71)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	G	T	6: 83,139,230 (GRCm39)	R385L	probably benign	Het
Abca8b	A	T	11: 109,872,561 (GRCm39)	C13*	probably null	Het
Actc1	T	C	2: 113,880,979 (GRCm39)	D82G	probably damaging	Het
Adamts1	G	A	16: 85,599,571 (GRCm39)	R10C	probably damaging	Het
Ankle2	G	A	5: 110,400,610 (GRCm39)	V649M	possibly damaging	Het
Arhgap23	A	G	11: 97,390,983 (GRCm39)	I4V	possibly damaging	Het
Asic2	A	G	11: 81,042,738 (GRCm39)	F185S	probably benign	Het
Asmt	G	A	X: 169,111,583 (GRCm39)	E322K	probably damaging	Het
Caprin2	T	C	6: 148,767,422 (GRCm39)	D512G	probably benign	Het
Cltc	A	C	11: 86,627,992 (GRCm39)	I52S	probably damaging	Het
Cntn2	A	G	1: 132,443,276 (GRCm39)	L1040P	probably damaging	Het
Col12a1	T	C	9: 79,509,614 (GRCm39)	T3019A	probably benign	Het
Crisp4	A	T	1: 18,192,990 (GRCm39)	C242*	probably null	Het
Crocc	G	T	4: 140,747,151 (GRCm39)	N1716K	probably benign	Het
Cstf3	A	G	2: 104,439,223 (GRCm39)	E12G	possibly damaging	Het
Dnai4	T	C	4: 102,939,332 (GRCm39)	T77A		Het
Drc3	G	T	11: 60,249,615 (GRCm39)	V45F	probably damaging	Het
Etv4	A	G	11: 101,666,202 (GRCm39)	S108P	probably damaging	Het
Exosc10	T	A	4: 148,643,017 (GRCm39)	D31E	probably damaging	Het
F11	A	T	8: 45,698,736 (GRCm39)	D469E	probably benign	Het
Fzd7	A	G	1: 59,523,797 (GRCm39)	H560R	probably benign	Het
Gabrp	A	G	11: 33,517,252 (GRCm39)	I140T	possibly damaging	Het
Get1	A	G	16: 95,955,363 (GRCm39)	D140G	probably benign	Het
Gna15	T	C	10: 81,343,798 (GRCm39)	T288A	probably benign	Het
Gucy2c	T	C	6: 136,700,756 (GRCm39)	D586G	probably benign	Het
H2-D1	T	C	17: 35,484,778 (GRCm39)	V213A	probably damaging	Het
Hsd3b1	A	T	3: 98,760,216 (GRCm39)	D258E	probably damaging	Het
Ier3	G	T	17: 36,132,779 (GRCm39)	G57W	probably damaging	Het
Ifnlr1	T	A	4: 135,426,171 (GRCm39)	C85S	probably damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Jak2	A	C	19: 29,288,353 (GRCm39)	D1068A	probably damaging	Het
Klk4	T	C	7: 43,534,797 (GRCm39)	I252T	probably damaging	Het
Klra17	A	T	6: 129,808,523 (GRCm39)	C237S	probably damaging	Het
Krtap1-3	T	C	11: 99,481,887 (GRCm39)	T87A	unknown	Het
Lbhd1	A	T	19: 8,864,397 (GRCm39)		probably null	Het
Lrig3	A	G	10: 125,838,935 (GRCm39)	R481G	possibly damaging	Het
Lrrc1	T	C	9: 77,362,487 (GRCm39)	Y247C	probably benign	Het
Marchf1	T	A	8: 66,908,803 (GRCm39)	Y174*	probably null	Het
Mlxip	A	T	5: 123,583,642 (GRCm39)	T402S	probably benign	Het
Mmd2	T	C	5: 142,560,957 (GRCm39)	K93E	probably damaging	Het
Mmp27	A	G	9: 7,579,792 (GRCm39)	D422G	possibly damaging	Het
Mroh7	T	C	4: 106,566,789 (GRCm39)	I487V	probably benign	Het
Nectin2	A	G	7: 19,453,119 (GRCm39)		probably null	Het
Nfkbia	A	T	12: 55,537,258 (GRCm39)	L277H	probably damaging	Het
Or4n5	T	C	14: 50,132,366 (GRCm39)	M298V	probably benign	Het
Or52r1	T	A	7: 102,536,596 (GRCm39)	I255F	possibly damaging	Het
Otof	C	T	5: 30,534,095 (GRCm39)	V1410M	probably damaging	Het
Pcdhb11	A	G	18: 37,556,188 (GRCm39)	N506S	probably damaging	Het
Pik3c2g	A	C	6: 139,599,401 (GRCm39)	E172D	possibly damaging	Het
Plch1	T	C	3: 63,639,075 (GRCm39)	D466G	probably null	Het
Plekha6	C	T	1: 133,220,171 (GRCm39)	R955W	probably damaging	Het
Ppm1d	T	A	11: 85,236,747 (GRCm39)	S509T	possibly damaging	Het
Prmt7	A	G	8: 106,961,486 (GRCm39)	D133G	probably damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Rfx6	A	G	10: 51,594,263 (GRCm39)	I394M	probably benign	Het
Rgl1	G	T	1: 152,394,922 (GRCm39)	N715K	probably damaging	Het
Rnf212	G	T	5: 108,922,811 (GRCm39)	S13*	probably null	Het
Rpgrip1l	T	C	8: 92,031,638 (GRCm39)	T80A	probably damaging	Het
Rsl1	G	T	13: 67,330,185 (GRCm39)	S211I	probably benign	Het
Serpinb9d	A	G	13: 33,386,843 (GRCm39)	M304V	probably damaging	Het
Sh3rf1	G	T	8: 61,814,807 (GRCm39)		probably null	Het
Snx16	C	A	3: 10,485,835 (GRCm39)	K261N	possibly damaging	Het
Srebf2	G	A	15: 82,066,357 (GRCm39)	R635Q	probably benign	Het
Styxl1	T	C	5: 135,794,672 (GRCm39)		probably null	Het
Tarbp2	A	G	15: 102,430,946 (GRCm39)	D233G	probably benign	Het
Tenm4	A	T	7: 96,421,234 (GRCm39)	N633Y	probably damaging	Het
Tgs1	T	C	4: 3,585,693 (GRCm39)	L190P	probably benign	Het
Tmem87a	C	T	2: 120,233,244 (GRCm39)	G55D	probably benign	Het
Ttn	A	T	2: 76,733,468 (GRCm39)	Y4602*	probably null	Het
Unc5b	A	T	10: 60,609,550 (GRCm39)	L582Q	probably damaging	Het
Wdpcp	A	G	11: 21,610,025 (GRCm39)	D31G	probably damaging	Het
Zbtb32	C	T	7: 30,291,320 (GRCm39)		probably benign	Het
Zfp936	C	T	7: 42,839,768 (GRCm39)	L412F	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
R8243:Ivd	UTSW	2	118,702,018 (GRCm39)	missense	probably damaging	1.00
R8362:Ivd	UTSW	2	118,708,422 (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'- CTTGGGATTTTGCCACACTG -3'
(R):5'- CTTCCAAAGAAAGGCCTCTCGG -3'

Sequencing Primer
(F):5'- AACTCAGTGGTAGAGCATTTGCC -3'
(R):5'- AAGAAAGGCCTCTCGGTGCTG -3'

Posted On

2022-02-07