Incidental Mutation 'R1335:Ivd'
| ID |
156834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ivd
|
| Ensembl Gene |
ENSMUSG00000027332 |
| Gene Name |
isovaleryl coenzyme A dehydrogenase |
| Synonyms |
6720455E18Rik, 1300016K07Rik |
| MMRRC Submission |
039400-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1335 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
118692475-118713388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118699923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 52
(H52L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028807]
|
| AlphaFold |
Q9JHI5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028807
AA Change: H52L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000028807
Gene: ENSMUSG00000027332
AA Change: H52L
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Cd209d |
T |
A |
8: 3,922,027 (GRCm39) |
D185V |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,262,875 (GRCm39) |
Y1484C |
probably damaging |
Het |
| Cdh9 |
T |
C |
15: 16,850,878 (GRCm39) |
V549A |
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,178,043 (GRCm39) |
V3604M |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,119,286 (GRCm39) |
W489R |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 73,833,285 (GRCm39) |
I230F |
probably damaging |
Het |
| Gm19965 |
A |
G |
1: 116,732,349 (GRCm39) |
K64R |
possibly damaging |
Het |
| Gpr141 |
T |
G |
13: 19,936,034 (GRCm39) |
Y247S |
possibly damaging |
Het |
| Mcoln2 |
A |
G |
3: 145,885,929 (GRCm39) |
H260R |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,763,516 (GRCm39) |
|
probably null |
Het |
| Mtarc1 |
C |
T |
1: 184,536,138 (GRCm39) |
R98Q |
probably benign |
Het |
| Ndrg3 |
T |
C |
2: 156,787,928 (GRCm39) |
|
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,803 (GRCm39) |
Y72H |
probably benign |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,287 (GRCm39) |
N359I |
probably damaging |
Het |
| Phf24 |
G |
A |
4: 42,934,657 (GRCm39) |
V98I |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,641,629 (GRCm39) |
G270W |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,943 (GRCm39) |
V863I |
probably damaging |
Het |
| Prss51 |
T |
G |
14: 64,333,620 (GRCm39) |
|
probably null |
Het |
| Scarb2 |
C |
T |
5: 92,599,205 (GRCm39) |
|
probably null |
Het |
| Simc1 |
ACCA |
ACCANNNNNNNNNNNNNNNNNNCCA |
13: 54,673,078 (GRCm39) |
|
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,487,853 (GRCm39) |
Y192N |
probably damaging |
Het |
| Smco2 |
T |
C |
6: 146,763,585 (GRCm39) |
|
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,182,123 (GRCm39) |
D724G |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Sytl4 |
GAAAAAA |
GAAAAA |
X: 132,861,875 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
G |
1: 159,695,600 (GRCm39) |
T508A |
probably benign |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,080 (GRCm39) |
S251P |
probably damaging |
Het |
| Zdhhc16 |
T |
A |
19: 41,929,073 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAAGCCTCAACCTGATGCTGTG -3'
(R):5'- CAGAACTCCTGCCAACAGAAGAGTG -3'
Sequencing Primer
(F):5'- CTGTGTGGTGAGAGTACCC -3'
(R):5'- AAGGCAGCTAGTCACTTGTG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation