Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02178:Ivd'

283220

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ivd

Ensembl Gene

ENSMUSG00000027332

Gene Name

isovaleryl coenzyme A dehydrogenase

Synonyms

6720455E18Rik, 1300016K07Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02178

Quality Score

Status

Chromosome

Chromosomal Location

118692475-118713388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118701915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 116 (I116V)

Ref Sequence

ENSEMBL: ENSMUSP00000028807 (fasta)

Gene Model

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

AlphaFold

Q9JHI5

Predicted Effect

probably benign
Transcript: ENSMUST00000028807
AA Change: I116V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028807
Gene: ENSMUSG00000027332
AA Change: I116V

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: ENSMUST00000126082

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,384,418 (GRCm39)	T516S	possibly damaging	Het
6820408C15Rik	T	C	2: 152,269,921 (GRCm39)		probably benign	Het
Ak5	T	C	3: 152,232,422 (GRCm39)	D331G	probably benign	Het
Ar	A	G	X: 97,349,044 (GRCm39)	D675G	probably damaging	Het
Arhgap23	A	G	11: 97,343,179 (GRCm39)	D276G	probably benign	Het
Arhgef3	C	T	14: 26,987,486 (GRCm39)	R40*	probably null	Het
Atp1b4	G	T	X: 37,421,695 (GRCm39)	R293L	possibly damaging	Het
Borcs8	T	C	8: 70,617,897 (GRCm39)	L85P	probably damaging	Het
Carmil1	T	G	13: 24,278,386 (GRCm39)	K194N	probably damaging	Het
Catsper4	T	A	4: 133,954,637 (GRCm39)	K4N	probably benign	Het
Ccdc30	T	C	4: 119,206,921 (GRCm39)		probably benign	Het
Cd101	A	G	3: 100,901,082 (GRCm39)	S997P	probably damaging	Het
Cdkl5	G	A	X: 159,599,889 (GRCm39)	T792I	probably benign	Het
Cep135	A	G	5: 76,743,321 (GRCm39)	Y185C	probably damaging	Het
Clcn5	A	G	X: 7,052,563 (GRCm39)	Y59H	possibly damaging	Het
Col6a1	A	T	10: 76,546,909 (GRCm39)	I771N	unknown	Het
Crispld1	C	T	1: 17,832,327 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,825,718 (GRCm39)	I128T	possibly damaging	Het
Gga1	T	A	15: 78,776,247 (GRCm39)	M430K	probably benign	Het
Has2	A	G	15: 56,545,456 (GRCm39)	Y49H	probably damaging	Het
Krt75	T	C	15: 101,481,226 (GRCm39)	N183D	probably benign	Het
Map3k9	A	T	12: 81,790,611 (GRCm39)	I314N	probably damaging	Het
Map6d1	T	G	16: 20,055,448 (GRCm39)	E129D	probably damaging	Het
Mettl22	T	C	16: 8,296,146 (GRCm39)	V145A	probably benign	Het
Muc5ac	T	A	7: 141,359,184 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,461,802 (GRCm39)	F1416L	probably benign	Het
Nlrc4	T	C	17: 74,753,838 (GRCm39)	I182V	probably damaging	Het
Or5b21	T	A	19: 12,839,907 (GRCm39)	I256N	possibly damaging	Het
Or7a35	T	C	10: 78,853,554 (GRCm39)	Y133H	possibly damaging	Het
Phc3	T	C	3: 30,984,012 (GRCm39)	T668A	possibly damaging	Het
Pheta2	T	A	15: 82,227,527 (GRCm39)	D15E	possibly damaging	Het
Ppp2r2a	T	C	14: 67,260,546 (GRCm39)	Y244C	probably damaging	Het
Prkcq	A	C	2: 11,281,851 (GRCm39)	Y460S	possibly damaging	Het
Prmt8	T	A	6: 127,674,770 (GRCm39)	E286V	probably benign	Het
Ptprb	A	T	10: 116,158,437 (GRCm39)	M503L	probably benign	Het
Ptprq	A	T	10: 107,522,180 (GRCm39)	D590E	probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Rps6kc1	A	T	1: 190,604,033 (GRCm39)	S196R	possibly damaging	Het
Ryr3	A	G	2: 112,656,144 (GRCm39)	Y1951H	probably benign	Het
Sbno1	A	T	5: 124,538,258 (GRCm39)		probably null	Het
Sde2	T	G	1: 180,678,796 (GRCm39)	L20R	possibly damaging	Het
Slco1a5	A	T	6: 142,208,414 (GRCm39)	C81*	probably null	Het
Snx2	A	G	18: 53,332,857 (GRCm39)	E177G	possibly damaging	Het
Spg11	A	T	2: 121,927,783 (GRCm39)	V667D	probably damaging	Het
Tas2r115	T	C	6: 132,714,271 (GRCm39)	T227A	probably benign	Het
Tmed9	A	G	13: 55,741,108 (GRCm39)	H41R	possibly damaging	Het
Vmn1r35	T	G	6: 66,656,086 (GRCm39)	S28R	probably damaging	Het
Vmn2r110	A	C	17: 20,804,706 (GRCm39)		probably null	Het
Vstm2l	T	C	2: 157,777,337 (GRCm39)	Y72H	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Zbtb4	A	T	11: 69,667,255 (GRCm39)	R187*	probably null	Het
Zfp598	A	G	17: 24,896,517 (GRCm39)	D198G	probably damaging	Het
Zp2	G	T	7: 119,732,973 (GRCm39)	A629E	possibly damaging	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
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
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

Posted On

2015-04-16