Mutagenetix > Incidental Mutation

Incidental Mutation 'R6810:Ivd'

533740

Institutional Source

Beutler Lab

Gene Symbol

Ivd

Ensembl Gene

ENSMUSG00000027332

Gene Name

isovaleryl coenzyme A dehydrogenase

Synonyms

6720455E18Rik, 1300016K07Rik

MMRRC Submission

044923-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6810 (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 118700242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 90 (V90L)

Ref Sequence

ENSEMBL: ENSMUSP00000028807 (fasta)

Gene Model

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

AlphaFold

Q9JHI5

Predicted Effect

probably benign
Transcript: ENSMUST00000028807
AA Change: V90L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028807
Gene: ENSMUSG00000027332
AA Change: V90L

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: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

96% (53/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	A	T	8: 95,660,570 (GRCm39)	T70S	probably damaging	Het
Adora1	T	C	1: 134,161,777 (GRCm39)	Y106C	probably damaging	Het
Aox3	T	A	1: 58,180,590 (GRCm39)	N250K	probably benign	Het
Ap2b1	A	T	11: 83,226,317 (GRCm39)	Y238F	possibly damaging	Het
Birc6	G	A	17: 74,919,215 (GRCm39)	S2015N	possibly damaging	Het
C7	A	G	15: 5,037,136 (GRCm39)	F581L	probably damaging	Het
Cd27	A	T	6: 125,210,627 (GRCm39)	H203Q	probably damaging	Het
Cdk2	A	G	10: 128,535,456 (GRCm39)	V274A	probably benign	Het
Cenpe	A	G	3: 134,949,583 (GRCm39)	T1351A	probably benign	Het
Chd7	T	C	4: 8,839,523 (GRCm39)	L1353P	probably damaging	Het
Dcc	C	T	18: 71,503,764 (GRCm39)	V945M	probably damaging	Het
Dio1	A	G	4: 107,154,922 (GRCm39)	V118A	probably damaging	Het
Dst	C	T	1: 34,251,379 (GRCm39)	T1818M	probably damaging	Het
Dthd1	T	A	5: 62,971,672 (GRCm39)	M165K	probably benign	Het
Eif5b	A	G	1: 38,085,741 (GRCm39)	I929V	probably benign	Het
F5	T	A	1: 164,014,471 (GRCm39)	S581T	probably damaging	Het
Fanca	A	C	8: 124,013,216 (GRCm39)	I761S	probably damaging	Het
Fat2	T	C	11: 55,173,067 (GRCm39)	T2549A	possibly damaging	Het
Fut2	A	G	7: 45,299,929 (GRCm39)	L281P	probably damaging	Het
Gm19410	C	A	8: 36,239,733 (GRCm39)	A143E	probably damaging	Het
Gm5431	T	C	11: 48,779,803 (GRCm39)	D651G	probably damaging	Het
Hook3	A	C	8: 26,522,450 (GRCm39)		probably null	Het
Klhdc7b	A	G	15: 89,272,559 (GRCm39)	Y1147C	possibly damaging	Het
Mlh1	G	A	9: 111,070,626 (GRCm39)	T363M	possibly damaging	Het
Ndufa3	A	T	7: 3,622,476 (GRCm39)	I45F	probably damaging	Het
Nell2	T	C	15: 95,139,468 (GRCm39)	D588G	probably damaging	Het
Nhlrc3	T	C	3: 53,360,996 (GRCm39)	N253S	probably benign	Het
Nlrp4c	T	A	7: 6,069,754 (GRCm39)	F552I	probably damaging	Het
Or51g1	A	C	7: 102,634,042 (GRCm39)	S110A	probably damaging	Het
Or5j3	G	A	2: 86,128,267 (GRCm39)	A36T	probably benign	Het
Pcdhga12	T	C	18: 37,900,232 (GRCm39)	S355P	probably benign	Het
Pcdhga7	A	T	18: 37,848,926 (GRCm39)	Y311F	probably benign	Het
Phldb2	A	G	16: 45,569,088 (GRCm39)		probably null	Het
Plscr4	G	A	9: 92,365,889 (GRCm39)	V120I	probably damaging	Het
Plxna4	A	G	6: 32,287,457 (GRCm39)	V480A	probably benign	Het
Psrc1	A	T	3: 108,292,664 (GRCm39)	K152N	possibly damaging	Het
Ptcd3	A	C	6: 71,862,516 (GRCm39)	V473G	probably damaging	Het
Rab11fip1	ACTCT	ACT	8: 27,642,760 (GRCm39)		probably null	Het
Semp2l2b	C	T	10: 21,942,616 (GRCm39)	G455R	probably damaging	Het
Skint6	T	C	4: 112,805,577 (GRCm39)		probably null	Het
Slc24a1	A	G	9: 64,855,605 (GRCm39)	V434A	probably benign	Het
Snd1	T	A	6: 28,668,609 (GRCm39)	V432E	probably benign	Het
Syne2	C	T	12: 75,989,659 (GRCm39)	T1847M	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tes	C	A	6: 17,104,651 (GRCm39)	N377K	probably benign	Het
Tfip11	T	A	5: 112,481,463 (GRCm39)	I452N	probably benign	Het
Tgfbi	T	C	13: 56,785,016 (GRCm39)	S658P	probably benign	Het
Tmx4	A	C	2: 134,462,594 (GRCm39)	D112E	probably damaging	Het
Tnn	G	T	1: 159,932,412 (GRCm39)	D1367E	probably damaging	Het
Triobp	A	G	15: 78,850,815 (GRCm39)	N323S	possibly damaging	Het
Usp40	T	C	1: 87,908,755 (GRCm39)	D582G	probably benign	Het
Vmn2r99	A	G	17: 19,600,296 (GRCm39)	K440R	probably benign	Het
Zfp707	T	A	15: 75,846,748 (GRCm39)	L193Q	probably damaging	Het
Zfp748	T	C	13: 67,689,844 (GRCm39)	Y472C	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TATGCCTAGAAAGATGGCCACTG -3'
(R):5'- ATTTTATAGCATAGCTTTGGGAACA -3'

Sequencing Primer
(F):5'- TAGAAAGATGGCCACTGTCTCCTG -3'
(R):5'- TGAGGTAGAGTCTCTCACTGAACC -3'

Posted On

2018-09-12