Incidental Mutation 'R2340:Hacd1'
| ID |
246697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hacd1
|
| Ensembl Gene |
ENSMUSG00000063275 |
| Gene Name |
3-hydroxyacyl-CoA dehydratase 1 |
| Synonyms |
Ptpla |
| MMRRC Submission |
040326-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.273)
|
| Stock # |
R2340 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
14031642-14060846 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 14040698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 186
(P186T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074854]
[ENSMUST00000091429]
[ENSMUST00000114753]
[ENSMUST00000131730]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074854
AA Change: P186T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074397
Gene: ENSMUSG00000063275
AA Change: P186T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
|
Pfam:PTPLA
|
79 |
242 |
1.7e-60 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091429
AA Change: A145D
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000088998
Gene: ENSMUSG00000063275
AA Change: A145D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
Pfam:PTPLA
|
79 |
144 |
5.3e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114753
AA Change: P186T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110401
Gene: ENSMUSG00000063275
AA Change: P186T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
|
Pfam:PTPLA
|
79 |
240 |
3e-61 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131730
AA Change: A145D
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141406
Gene: ENSMUSG00000063275
AA Change: A145D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
Pfam:PTPLA
|
79 |
144 |
5.3e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195416
|
| Meta Mutation Damage Score |
0.1642 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout leads to decreased body size and weight and reduced skeletal muscle weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,349,165 (GRCm39) |
I3580F |
probably damaging |
Het |
| B3glct |
A |
G |
5: 149,668,905 (GRCm39) |
K280E |
probably benign |
Het |
| Chd6 |
TG |
T |
2: 160,807,679 (GRCm39) |
|
probably null |
Het |
| Clu |
T |
C |
14: 66,218,358 (GRCm39) |
V406A |
probably damaging |
Het |
| D930020B18Rik |
A |
G |
10: 121,490,741 (GRCm39) |
K114E |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,400,945 (GRCm39) |
D149E |
probably damaging |
Het |
| Entrep2 |
A |
G |
7: 64,425,565 (GRCm39) |
S176P |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,160,922 (GRCm39) |
D3269E |
possibly damaging |
Het |
| Frmd4a |
A |
G |
2: 4,591,187 (GRCm39) |
D69G |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Kif2c |
A |
G |
4: 117,027,038 (GRCm39) |
V320A |
probably damaging |
Het |
| Lypd2 |
T |
A |
15: 74,606,103 (GRCm39) |
I12L |
probably benign |
Het |
| Midn |
G |
T |
10: 79,985,946 (GRCm39) |
R12L |
possibly damaging |
Het |
| Or2b6 |
T |
C |
13: 21,822,757 (GRCm39) |
K312R |
probably benign |
Het |
| Or8g34 |
A |
G |
9: 39,373,105 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or9q2 |
A |
G |
19: 13,772,135 (GRCm39) |
V280A |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,271,079 (GRCm39) |
V3158E |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rad51d |
T |
C |
11: 82,772,647 (GRCm39) |
D206G |
probably damaging |
Het |
| Rcan1 |
A |
G |
16: 92,194,240 (GRCm39) |
F58L |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,422,205 (GRCm39) |
I96T |
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,066,089 (GRCm39) |
F500I |
probably damaging |
Het |
| Rph3al |
T |
C |
11: 75,724,258 (GRCm39) |
T282A |
probably benign |
Het |
| Serpina11 |
T |
C |
12: 103,951,002 (GRCm39) |
R240G |
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,033,122 (GRCm39) |
I400N |
probably benign |
Het |
| Slco1a4 |
C |
A |
6: 141,787,103 (GRCm39) |
C28F |
probably benign |
Het |
| Sned1 |
T |
A |
1: 93,184,174 (GRCm39) |
I134N |
probably damaging |
Het |
| Spock3 |
T |
A |
8: 63,798,747 (GRCm39) |
M253K |
probably damaging |
Het |
| Tmem184b |
T |
A |
15: 79,262,732 (GRCm39) |
M42L |
probably benign |
Het |
| Tnnt1 |
G |
A |
7: 4,516,615 (GRCm39) |
|
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,938,922 (GRCm39) |
S407T |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Zfat |
T |
C |
15: 67,973,390 (GRCm39) |
E1117G |
probably damaging |
Het |
| Zfp606 |
A |
G |
7: 12,227,016 (GRCm39) |
E321G |
possibly damaging |
Het |
|
| Other mutations in Hacd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01622:Hacd1
|
APN |
2 |
14,040,667 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01623:Hacd1
|
APN |
2 |
14,040,667 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01884:Hacd1
|
APN |
2 |
14,040,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02214:Hacd1
|
APN |
2 |
14,031,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02529:Hacd1
|
APN |
2 |
14,050,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3429:Hacd1
|
UTSW |
2 |
14,049,586 (GRCm39) |
splice site |
probably benign |
|
|
R4946:Hacd1
|
UTSW |
2 |
14,049,948 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5103:Hacd1
|
UTSW |
2 |
14,045,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6468:Hacd1
|
UTSW |
2 |
14,040,755 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6626:Hacd1
|
UTSW |
2 |
14,031,755 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6957:Hacd1
|
UTSW |
2 |
14,049,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7643:Hacd1
|
UTSW |
2 |
14,049,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7862:Hacd1
|
UTSW |
2 |
14,050,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8146:Hacd1
|
UTSW |
2 |
14,049,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8905:Hacd1
|
UTSW |
2 |
14,049,761 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9632:Hacd1
|
UTSW |
2 |
14,040,678 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9782:Hacd1
|
UTSW |
2 |
14,040,751 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Hacd1
|
UTSW |
2 |
14,040,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGCTATTCCAAATACTTGCATG -3'
(R):5'- AACCGCTATTAGAAGCAAGGTG -3'
Sequencing Primer
(F):5'- CATGGTATGCGCTAAGTCAAAGTAC -3'
(R):5'- TTAAATCAGCAGCCCGTGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation