Incidental Mutation 'R0057:Hacd2'
| ID |
216078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hacd2
|
| Ensembl Gene |
ENSMUSG00000035376 |
| Gene Name |
3-hydroxyacyl-CoA dehydratase 2 |
| Synonyms |
Ptplb, 6330408J20Rik |
| MMRRC Submission |
038351-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R0057 (G1)
|
| Quality Score |
39 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
34842798-34929547 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34895997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 105
(V105D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061156]
|
| AlphaFold |
Q9D3B1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061156
AA Change: V105D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060462
Gene: ENSMUSG00000035376
AA Change: V105D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
42 |
64 |
N/A |
INTRINSIC |
|
Pfam:PTPLA
|
85 |
246 |
1.4e-62 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231556
|
| Meta Mutation Damage Score |
0.8642 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can catalyze the third step (dehydration) in the conversion of long chain fatty acids to very long chain fatty acids. The encoded protein localizes to the endoplasmic reticulum membrane. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
T |
A |
1: 63,610,078 (GRCm39) |
H693Q |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,456,144 (GRCm39) |
|
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,586,141 (GRCm39) |
|
probably benign |
Het |
| Caskin1 |
A |
G |
17: 24,723,870 (GRCm39) |
N886S |
probably damaging |
Het |
| Ctse |
G |
T |
1: 131,591,109 (GRCm39) |
D97Y |
probably damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,806,767 (GRCm39) |
V490A |
probably benign |
Het |
| Dctn1 |
A |
G |
6: 83,156,874 (GRCm39) |
H7R |
probably benign |
Het |
| Dscam |
A |
C |
16: 96,474,936 (GRCm39) |
W1209G |
probably damaging |
Het |
| Fcsk |
C |
T |
8: 111,620,400 (GRCm39) |
|
probably benign |
Het |
| Gna11 |
A |
G |
10: 81,366,774 (GRCm39) |
M312T |
probably benign |
Het |
| Htra4 |
C |
A |
8: 25,528,824 (GRCm39) |
V23L |
probably benign |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Msh4 |
C |
T |
3: 153,575,318 (GRCm39) |
A686T |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,440,958 (GRCm39) |
M1096K |
probably benign |
Het |
| Or5m10b |
C |
A |
2: 85,699,597 (GRCm39) |
Y220* |
probably null |
Het |
| Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
| Prlr |
A |
G |
15: 10,328,509 (GRCm39) |
Y328C |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 52,056,287 (GRCm39) |
V68I |
probably benign |
Het |
| Shmt2 |
G |
A |
10: 127,356,917 (GRCm39) |
T31M |
possibly damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,383,354 (GRCm39) |
T298A |
probably benign |
Het |
| Tmem175 |
C |
T |
5: 108,787,428 (GRCm39) |
H92Y |
probably damaging |
Het |
| Top3a |
C |
T |
11: 60,631,510 (GRCm39) |
A951T |
probably benign |
Het |
| Trpc4ap |
T |
C |
2: 155,482,406 (GRCm39) |
E528G |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,764,119 (GRCm39) |
C242R |
probably benign |
Het |
| Vwa7 |
G |
A |
17: 35,243,523 (GRCm39) |
S710N |
possibly damaging |
Het |
| Zfa-ps |
A |
T |
10: 52,421,202 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp770 |
T |
A |
2: 114,027,713 (GRCm39) |
R119* |
probably null |
Het |
|
| Other mutations in Hacd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01999:Hacd2
|
APN |
16 |
34,869,083 (GRCm39) |
splice site |
probably benign |
|
|
IGL02454:Hacd2
|
APN |
16 |
34,926,761 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0057:Hacd2
|
UTSW |
16 |
34,895,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:Hacd2
|
UTSW |
16 |
34,922,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1945:Hacd2
|
UTSW |
16 |
34,922,354 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2097:Hacd2
|
UTSW |
16 |
34,869,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2392:Hacd2
|
UTSW |
16 |
34,926,748 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4962:Hacd2
|
UTSW |
16 |
34,842,921 (GRCm39) |
missense |
unknown |
|
|
R5731:Hacd2
|
UTSW |
16 |
34,922,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Hacd2
|
UTSW |
16 |
34,922,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7850:Hacd2
|
UTSW |
16 |
34,922,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9101:Hacd2
|
UTSW |
16 |
34,920,156 (GRCm39) |
missense |
probably benign |
0.43 |
|
Z1176:Hacd2
|
UTSW |
16 |
34,926,695 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGGGATCGTGACAGCCATATTG -3'
(R):5'- AGGGCTATGTTTTCCACTTTGGACC -3'
Sequencing Primer
(F):5'- GAAAGTGAATCATCGGTATCTCCC -3'
(R):5'- CTTTGGACCCAATTGCAACAGTAG -3'
|
| Posted On |
2014-07-21 |
Incidental Mutation