Incidental Mutation 'IGL00841:Ivd'
ID |
88911 |
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)
|
Stock # |
IGL00841
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
118692475-118713388 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118707383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 299
(V299A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028807
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028807]
|
AlphaFold |
Q9JHI5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028807
AA Change: V299A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000028807 Gene: ENSMUSG00000027332 AA Change: V299A
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankdd1b |
T |
C |
13: 96,554,338 (GRCm39) |
|
probably benign |
Het |
Arl2 |
C |
A |
19: 6,185,999 (GRCm39) |
|
probably benign |
Het |
Atp8b4 |
A |
G |
2: 126,225,689 (GRCm39) |
S514P |
probably damaging |
Het |
Ces1a |
G |
T |
8: 93,766,164 (GRCm39) |
S150* |
probably null |
Het |
Ces1g |
T |
A |
8: 94,029,615 (GRCm39) |
D539V |
possibly damaging |
Het |
Col24a1 |
A |
G |
3: 145,068,064 (GRCm39) |
D752G |
probably damaging |
Het |
Ctsd |
A |
C |
7: 141,936,418 (GRCm39) |
S128A |
probably damaging |
Het |
Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
Dscam |
G |
A |
16: 96,621,077 (GRCm39) |
L544F |
probably damaging |
Het |
Fry |
T |
A |
5: 150,346,189 (GRCm39) |
I1566N |
probably benign |
Het |
Fut8 |
T |
A |
12: 77,412,095 (GRCm39) |
H148Q |
probably benign |
Het |
Ighv1-64 |
A |
T |
12: 115,471,596 (GRCm39) |
M1K |
probably null |
Het |
Kcnab3 |
A |
G |
11: 69,222,129 (GRCm39) |
I292V |
probably benign |
Het |
Mfhas1 |
T |
A |
8: 36,058,040 (GRCm39) |
N838K |
probably damaging |
Het |
Prom1 |
A |
T |
5: 44,220,458 (GRCm39) |
|
probably benign |
Het |
Ros1 |
T |
G |
10: 52,020,969 (GRCm39) |
T648P |
possibly damaging |
Het |
Scel |
A |
T |
14: 103,767,431 (GRCm39) |
Q30L |
probably benign |
Het |
Skp2 |
A |
C |
15: 9,139,574 (GRCm39) |
S40R |
probably benign |
Het |
Tm9sf1 |
T |
A |
14: 55,880,184 (GRCm39) |
K71M |
probably damaging |
Het |
Vegfb |
A |
G |
19: 6,963,846 (GRCm39) |
W38R |
probably damaging |
Het |
Xpo1 |
T |
G |
11: 23,235,094 (GRCm39) |
F588V |
probably damaging |
Het |
Zfp990 |
C |
A |
4: 145,264,438 (GRCm39) |
L479M |
probably damaging |
Het |
|
Other mutations in Ivd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-12-03 |