Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01634:Ivd'

93531

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ivd

Ensembl Gene

ENSMUSG00000027332

Gene Name

isovaleryl coenzyme A dehydrogenase

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01634

Quality Score

Status

Chromosome

Chromosomal Location

118861954-118882909 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118876382 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 285 (R285H)

Ref Sequence

ENSEMBL: ENSMUSP00000028807 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000028807
AA Change: R285H

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

SMART Domains

Protein: ENSMUSP00000028807
Gene: ENSMUSG00000027332
AA Change: R285H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154104

Coding Region Coverage

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034H15Rik	A	T	1: 191,900,904		noncoding transcript	Het
4933421I07Rik	C	T	7: 42,447,699	D63N	probably benign	Het
Alg9	C	A	9: 50,775,377		probably null	Het
Anln	T	C	9: 22,360,475	T695A	probably benign	Het
Aox4	G	T	1: 58,221,930	D141Y	possibly damaging	Het
Arhgap21	C	A	2: 20,914,644	Q84H	probably benign	Het
Arnt	G	A	3: 95,470,398		probably benign	Het
Atp8a2	T	A	14: 59,998,062	Y677F	probably benign	Het
Car6	C	T	4: 150,198,153	V12M	probably benign	Het
Cd209d	A	T	8: 3,877,974		probably null	Het
Ctnna1	T	A	18: 35,223,448	V390E	probably damaging	Het
Cypt4	T	A	9: 24,625,656	N147K	possibly damaging	Het
Dnah10	C	A	5: 124,821,341	A3729E	probably damaging	Het
Dusp8	A	G	7: 142,084,423	V156A	probably benign	Het
Ecm1	G	A	3: 95,734,899	P458L	probably damaging	Het
Fat3	T	G	9: 15,998,358	Y2116S	probably damaging	Het
Fscn3	T	A	6: 28,430,538	Y236N	probably damaging	Het
Gaa	G	A	11: 119,274,076	S265N	possibly damaging	Het
Gas7	T	C	11: 67,674,231		probably benign	Het
Gbp8	T	C	5: 105,018,572	K297R	probably damaging	Het
Gm1818	G	A	12: 48,556,209		noncoding transcript	Het
Gm5114	G	T	7: 39,408,647	T516K	probably benign	Het
Hectd1	A	G	12: 51,803,779	S165P	probably damaging	Het
Hoxb4	G	T	11: 96,318,900	R44L	probably damaging	Het
Krtap20-2	T	C	16: 89,206,089	F59S	unknown	Het
Megf8	G	A	7: 25,358,781		probably benign	Het
Mgat4d	A	T	8: 83,368,116	M261L	possibly damaging	Het
Mlc1	A	T	15: 88,974,718		probably benign	Het
Mmp20	T	A	9: 7,635,148	Y43*	probably null	Het
Morc3	G	A	16: 93,873,237	V767I	probably benign	Het
Myo15	A	G	11: 60,495,472	T1808A	probably damaging	Het
Notch4	T	C	17: 34,572,588	F574L	probably damaging	Het
Npas3	G	A	12: 53,947,163	V164M	probably damaging	Het
Nptx1	A	G	11: 119,544,672	Y273H	probably damaging	Het
Oaf	T	C	9: 43,224,004	N159S	probably damaging	Het
Olfr1216	T	A	2: 89,013,444	I207F	probably damaging	Het
Olfr519	A	T	7: 108,894,085	F107L	probably benign	Het
Olfr994	A	T	2: 85,430,439	L130H	probably damaging	Het
Pgm1	T	C	5: 64,100,974	F101L	probably benign	Het
Pkd1l3	A	C	8: 109,667,525		probably null	Het
Plcd1	C	T	9: 119,073,789	R527H	probably damaging	Het
Rexo2	C	T	9: 48,468,915	E206K	probably damaging	Het
Ropn1	C	A	16: 34,666,778	T28N	possibly damaging	Het
Ropn1	A	T	16: 34,666,771	I26F	probably damaging	Het
Rpgrip1l	T	A	8: 91,252,544	S998C	probably benign	Het
Rpgrip1l	C	A	8: 91,252,543	S998I	probably benign	Het
Scap	T	C	9: 110,378,789		probably null	Het
Sec23b	T	C	2: 144,559,230	Y4H	probably damaging	Het
Sfrp4	C	A	13: 19,623,630	D66E	possibly damaging	Het
Slc25a36	T	C	9: 97,080,481	T13A	probably benign	Het
Synpr	A	T	14: 13,608,576	I119F	possibly damaging	Het
Tamm41	A	C	6: 115,016,098	H109Q	probably benign	Het
Tet1	A	T	10: 62,878,588	I476K	possibly damaging	Het
Tg	A	T	15: 66,729,566	I142F	probably benign	Het
Thada	A	T	17: 84,393,358		probably null	Het
Triobp	T	C	15: 78,993,368	L1654P	probably damaging	Het
Trpm7	A	G	2: 126,826,818	V726A	probably damaging	Het
Txndc15	T	G	13: 55,721,625	V197G	probably damaging	Het
Ubr3	A	T	2: 69,973,572	T1169S	probably benign	Het
Uhmk1	C	T	1: 170,207,113		probably null	Het
Vmn2r16	T	A	5: 109,340,311	M350K	probably benign	Het
Vmn2r77	G	A	7: 86,811,649	V728I	probably benign	Het
Wipf1	G	A	2: 73,447,881	P7S	unknown	Het
Zswim3	A	G	2: 164,820,002	D134G	probably damaging	Het

Other mutations in Ivd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Ivd	APN	2	118876902	missense	probably benign	0.06
IGL01122:Ivd	APN	2	118876880	splice site	probably benign
IGL02178:Ivd	APN	2	118871434	missense	probably benign	0.00
IGL02478:Ivd	APN	2	118862091	missense	probably benign	0.21
IGL03104:Ivd	APN	2	118872903	missense	probably benign	0.01
R1335:Ivd	UTSW	2	118869442	missense	probably benign	0.00
R1823:Ivd	UTSW	2	118862034	missense	probably benign	0.05
R2008:Ivd	UTSW	2	118871500	missense	probably benign	0.00
R3162:Ivd	UTSW	2	118862169	critical splice donor site	probably null
R3162:Ivd	UTSW	2	118862169	critical splice donor site	probably null
R5011:Ivd	UTSW	2	118880465	missense	probably damaging	1.00
R5013:Ivd	UTSW	2	118880465	missense	probably damaging	1.00
R5946:Ivd	UTSW	2	118876889	missense	possibly damaging	0.49
R6810:Ivd	UTSW	2	118869761	missense	probably benign
R7055:Ivd	UTSW	2	118873249	missense	probably damaging	0.99
R7131:Ivd	UTSW	2	118869774	missense	probably damaging	1.00
R7173:Ivd	UTSW	2	118871389	missense	probably damaging	1.00
R7302:Ivd	UTSW	2	118871504	missense	probably benign	0.04
R7490:Ivd	UTSW	2	118876892	missense	possibly damaging	0.94
R7583:Ivd	UTSW	2	118862131	missense	probably damaging	0.96
Z1176:Ivd	UTSW	2	118876344	missense	possibly damaging	0.94

Posted On

2013-12-09