Mutagenetix > Incidental Mutation

Incidental Mutation 'R7490:Ivd'

580655

Institutional Source

Beutler Lab

Gene Symbol

Ivd

Ensembl Gene

ENSMUSG00000027332

Gene Name

isovaleryl coenzyme A dehydrogenase

Synonyms

6720455E18Rik, 1300016K07Rik

MMRRC Submission

045564-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7490 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118692475-118713388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118707373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 296 (M296L)

Ref Sequence

ENSEMBL: ENSMUSP00000028807 (fasta)

Gene Model

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

AlphaFold

Q9JHI5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028807
AA Change: M296L

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028807
Gene: ENSMUSG00000027332
AA Change: M296L

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: 99.9%
10x: 99.6%
20x: 98.8%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,202,389 (GRCm39)	D132G	possibly damaging	Het
Abca5	T	C	11: 110,168,437 (GRCm39)	E1424G	possibly damaging	Het
Adamts4	C	T	1: 171,084,169 (GRCm39)	Q549*	probably null	Het
Adcy4	A	G	14: 56,007,890 (GRCm39)	I893T	possibly damaging	Het
Ago1	A	T	4: 126,333,298 (GRCm39)	*858R	probably null	Het
Ank2	T	A	3: 126,752,538 (GRCm39)	I393L	probably damaging	Het
Ankrd44	T	C	1: 54,687,459 (GRCm39)	T987A	probably benign	Het
Ap2a1	G	T	7: 44,552,213 (GRCm39)	N790K	probably benign	Het
Aqr	A	G	2: 113,989,349 (GRCm39)		probably null	Het
Arel1	G	T	12: 84,988,685 (GRCm39)	F21L	probably damaging	Het
Atp1a3	T	C	7: 24,686,895 (GRCm39)	D743G	probably damaging	Het
Atp9a	A	T	2: 168,517,272 (GRCm39)	F354I	probably benign	Het
Bag6	A	G	17: 35,359,818 (GRCm39)	H259R	unknown	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TGGTT	TGGTTCTGTGGTCACGGGTT	3: 95,795,498 (GRCm39)		probably benign	Het
BC028528	GTCACTGGTTCTGTG	GTCACTGGTTCTGTGTTCACTGGTTCTGTG	3: 95,795,478 (GRCm39)		probably benign	Het
Bckdk	T	A	7: 127,504,145 (GRCm39)	S15T	unknown	Het
C4b	G	T	17: 34,950,054 (GRCm39)	Y1405*	probably null	Het
Camk4	G	A	18: 33,072,598 (GRCm39)		probably null	Het
Car11	T	A	7: 45,349,742 (GRCm39)	W16R	probably benign	Het
Ccdc80	A	C	16: 44,916,763 (GRCm39)	E506D	probably damaging	Het
Chmp6	C	T	11: 119,806,269 (GRCm39)	Q32*	probably null	Het
Colq	G	A	14: 31,267,043 (GRCm39)	P166S	possibly damaging	Het
Ctxn3	T	C	18: 57,610,357 (GRCm39)	M58T	probably damaging	Het
Cxcl3	A	T	5: 90,934,516 (GRCm39)	I93L	unknown	Het
Dnaaf2	T	C	12: 69,244,380 (GRCm39)	Y227C	probably damaging	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dnmt3a	G	A	12: 3,954,204 (GRCm39)	G792D	probably damaging	Het
Dsg4	T	A	18: 20,584,993 (GRCm39)		probably null	Het
Ecm2	C	T	13: 49,683,818 (GRCm39)	Q599*	probably null	Het
Fbxl13	T	A	5: 21,728,058 (GRCm39)	R550*	probably null	Het
Gm4302	A	T	10: 100,177,445 (GRCm39)	Q243L	unknown	Het
Gm7168	A	T	17: 14,169,275 (GRCm39)	Y214F	probably benign	Het
Gtf3c1	C	T	7: 125,246,663 (GRCm39)	D1549N	probably damaging	Het
Gtf3c5	A	T	2: 28,461,153 (GRCm39)	D320E	probably damaging	Het
Hivep1	T	A	13: 42,311,126 (GRCm39)	V1122D	probably damaging	Het
Ibtk	T	C	9: 85,600,987 (GRCm39)		probably null	Het
Irs1	T	A	1: 82,264,985 (GRCm39)	Q1077L	probably damaging	Het
Katnal1	T	C	5: 148,828,492 (GRCm39)	D318G	probably null	Het
L3mbtl3	C	T	10: 26,215,129 (GRCm39)	V194I	unknown	Het
Malt1	C	A	18: 65,581,282 (GRCm39)	Q237K	probably benign	Het
Marchf11	C	T	15: 26,311,187 (GRCm39)	A221V	possibly damaging	Het
Nfe2l3	A	G	6: 51,434,524 (GRCm39)	I361M	possibly damaging	Het
Nrg1	G	A	8: 32,308,682 (GRCm39)	R493C	probably damaging	Het
Oga	G	A	19: 45,755,886 (GRCm39)	R586*	probably null	Het
Or10g9b	T	A	9: 39,917,720 (GRCm39)	H175L	probably damaging	Het
Or2f1	T	C	6: 42,721,739 (GRCm39)	I256T	probably damaging	Het
Or4c107	A	C	2: 88,789,392 (GRCm39)	Y194S	probably benign	Het
Or51g2	G	A	7: 102,623,017 (GRCm39)	P61S	probably damaging	Het
Or5ar1	A	T	2: 85,671,307 (GRCm39)	V276E	probably damaging	Het
Or7g16	A	T	9: 18,727,229 (GRCm39)	Y120*	probably null	Het
Orai3	C	T	7: 127,372,799 (GRCm39)	A100V	possibly damaging	Het
Oxsm	T	A	14: 16,241,066 (GRCm38)	M328L	probably benign	Het
Pan2	T	C	10: 128,144,309 (GRCm39)	V186A	probably benign	Het
Pkd1l1	T	A	11: 8,866,265 (GRCm39)	D980V		Het
Ppp1r16b	T	C	2: 158,603,388 (GRCm39)	Y438H	probably damaging	Het
Ppp4c	A	T	7: 126,386,504 (GRCm39)	H164Q	probably damaging	Het
Prl8a2	C	A	13: 27,536,753 (GRCm39)	T125K	possibly damaging	Het
Rasa2	T	C	9: 96,448,175 (GRCm39)	N494S	possibly damaging	Het
Rpl18a	T	C	8: 71,348,150 (GRCm39)	D147G	probably benign	Het
Scg3	T	C	9: 75,576,559 (GRCm39)	D272G	possibly damaging	Het
Serpinb6c	T	A	13: 34,077,818 (GRCm39)	D184V	probably benign	Het
Simc1	T	G	13: 54,672,162 (GRCm39)	L170R	possibly damaging	Het
Slx4	T	C	16: 3,797,995 (GRCm39)	E1463G	possibly damaging	Het
Stk31	T	A	6: 49,416,166 (GRCm39)		probably null	Het
Tas1r3	A	G	4: 155,946,480 (GRCm39)	I375T	probably damaging	Het
Tbc1d24	T	C	17: 24,401,494 (GRCm39)	D405G	probably damaging	Het
Tcerg1l	G	A	7: 137,861,557 (GRCm39)	P391S	probably damaging	Het
Tiam1	T	C	16: 89,695,083 (GRCm39)	S125G	probably benign	Het
Trim16	C	A	11: 62,724,949 (GRCm39)	H246N	probably damaging	Het
Tti1	T	A	2: 157,837,392 (GRCm39)	N896I	probably damaging	Het
Ubash3a	A	G	17: 31,451,286 (GRCm39)	N395S	probably damaging	Het
Uggt1	T	C	1: 36,203,589 (GRCm39)	I1014V	probably benign	Het
Vmn1r30	T	A	6: 58,412,214 (GRCm39)	Q206L	possibly damaging	Het
Washc5	T	A	15: 59,209,053 (GRCm39)	N1057I	probably benign	Het
Xpo4	GGTATTAGCGGAGT	GGT	14: 57,840,078 (GRCm39)		probably null	Het
Zcchc14	A	T	8: 122,331,756 (GRCm39)	S536T	unknown	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
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'- TAGTCACTGTGGTTGTGAAACC -3'
(R):5'- ATAGCTATCCCACAGTGCTCG -3'

Sequencing Primer
(F):5'- CACCTTCTTGATCTCAGAGAAAGG -3'
(R):5'- ACAGTGCTCGCTCGACAG -3'

Posted On

2019-10-17