Incidental Mutation 'IGL03235:Hacl1'
| ID |
414029 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hacl1
|
| Ensembl Gene |
ENSMUSG00000021884 |
| Gene Name |
2-hydroxyacyl-CoA lyase 1 |
| Synonyms |
Phyh2, Hpcl, 1600020H07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03235
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
31329183-31364201 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 31352995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 106
(W106*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022437]
[ENSMUST00000127204]
[ENSMUST00000128629]
[ENSMUST00000134626]
[ENSMUST00000156431]
[ENSMUST00000171414]
[ENSMUST00000165955]
[ENSMUST00000167066]
[ENSMUST00000167175]
|
| AlphaFold |
Q9QXE0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022437
AA Change: V131I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022437
Gene: ENSMUSG00000021884
AA Change: V131I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
185 |
6.1e-46 |
PFAM |
|
Pfam:TPP_enzyme_M
|
206 |
335 |
1.9e-34 |
PFAM |
|
Pfam:TPP_enzyme_C
|
400 |
560 |
1.6e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127204
AA Change: V104I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120452
Gene: ENSMUSG00000021884
AA Change: V104I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
81 |
1.3e-14 |
PFAM |
|
Pfam:TPP_enzyme_N
|
75 |
159 |
3.3e-14 |
PFAM |
|
Pfam:TPP_enzyme_M
|
179 |
310 |
1.5e-34 |
PFAM |
|
Pfam:TPP_enzyme_C
|
373 |
533 |
7.2e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128629
|
| SMART Domains |
Protein: ENSMUSP00000125890
Gene: ENSMUSG00000021884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
10 |
58 |
2.6e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134626
|
| SMART Domains |
Protein: ENSMUSP00000114879
Gene: ENSMUSG00000021884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
67 |
3e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155210
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156189
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156431
AA Change: V131I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114922
Gene: ENSMUSG00000021884
AA Change: V131I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
186 |
3.3e-46 |
PFAM |
|
Pfam:TPP_enzyme_M
|
206 |
337 |
2.1e-34 |
PFAM |
|
Pfam:TPP_enzyme_C
|
400 |
560 |
1.6e-27 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171414
AA Change: W106*
|
| SMART Domains |
Protein: ENSMUSP00000130268
Gene: ENSMUSG00000021884
AA Change: W106*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
109 |
1.3e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165955
|
| SMART Domains |
Protein: ENSMUSP00000129090
Gene: ENSMUSG00000021884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
105 |
3.7e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167066
|
| SMART Domains |
Protein: ENSMUSP00000132913
Gene: ENSMUSG00000021884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
131 |
2.5e-33 |
PFAM |
|
Pfam:TPP_enzyme_M
|
180 |
311 |
4.7e-34 |
PFAM |
|
Pfam:TPP_enzyme_C
|
340 |
500 |
6.4e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167175
|
| SMART Domains |
Protein: ENSMUSP00000128588
Gene: ENSMUSG00000115022
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
139 |
3.6e-35 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2b1 |
A |
G |
11: 83,232,210 (GRCm39) |
N461S |
probably benign |
Het |
| Baz1a |
A |
T |
12: 54,945,320 (GRCm39) |
V1345E |
probably damaging |
Het |
| Ccdc60 |
T |
A |
5: 116,269,205 (GRCm39) |
M472L |
probably benign |
Het |
| Cenpf |
C |
T |
1: 189,416,124 (GRCm39) |
R67K |
probably damaging |
Het |
| Cfap45 |
A |
T |
1: 172,366,060 (GRCm39) |
R304S |
possibly damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,776,172 (GRCm39) |
|
probably benign |
Het |
| Eefsec |
T |
C |
6: 88,353,357 (GRCm39) |
D104G |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,273,621 (GRCm39) |
S849G |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,938,992 (GRCm39) |
T30I |
possibly damaging |
Het |
| Glt28d2 |
A |
T |
3: 85,779,109 (GRCm39) |
H121Q |
possibly damaging |
Het |
| Marchf6 |
A |
G |
15: 31,486,141 (GRCm39) |
S376P |
probably damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,378,264 (GRCm39) |
Y289C |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,977,967 (GRCm39) |
T114A |
probably benign |
Het |
| Ntrk3 |
C |
A |
7: 77,842,340 (GRCm39) |
K829N |
probably damaging |
Het |
| Or4b1d |
A |
T |
2: 89,969,414 (GRCm39) |
V23E |
possibly damaging |
Het |
| Pcdhgc5 |
A |
T |
18: 37,953,151 (GRCm39) |
I142F |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,468,166 (GRCm39) |
R153G |
probably damaging |
Het |
| Rgs19 |
T |
C |
2: 181,331,525 (GRCm39) |
K93R |
probably benign |
Het |
| Slc36a4 |
T |
A |
9: 15,634,845 (GRCm39) |
V129E |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,989,241 (GRCm39) |
L299P |
probably damaging |
Het |
| Tle2 |
T |
C |
10: 81,422,085 (GRCm39) |
S353P |
probably benign |
Het |
| Trav13d-4 |
T |
C |
14: 53,995,298 (GRCm39) |
V84A |
probably benign |
Het |
| Vmn1r8 |
A |
T |
6: 57,013,746 (GRCm39) |
K266* |
probably null |
Het |
| Wwtr1 |
C |
A |
3: 57,384,954 (GRCm39) |
V255F |
probably benign |
Het |
|
| Other mutations in Hacl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01358:Hacl1
|
APN |
14 |
31,348,374 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01548:Hacl1
|
APN |
14 |
31,362,553 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01952:Hacl1
|
APN |
14 |
31,363,079 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02059:Hacl1
|
APN |
14 |
31,354,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02138:Hacl1
|
APN |
14 |
31,352,940 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02637:Hacl1
|
APN |
14 |
31,362,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0502:Hacl1
|
UTSW |
14 |
31,344,941 (GRCm39) |
splice site |
probably benign |
|
|
R1697:Hacl1
|
UTSW |
14 |
31,342,957 (GRCm39) |
splice site |
probably null |
|
|
R1800:Hacl1
|
UTSW |
14 |
31,336,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1829:Hacl1
|
UTSW |
14 |
31,362,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3937:Hacl1
|
UTSW |
14 |
31,356,148 (GRCm39) |
splice site |
probably benign |
|
|
R3938:Hacl1
|
UTSW |
14 |
31,356,148 (GRCm39) |
splice site |
probably benign |
|
|
R5004:Hacl1
|
UTSW |
14 |
31,340,996 (GRCm39) |
missense |
probably benign |
|
|
R5776:Hacl1
|
UTSW |
14 |
31,344,828 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5868:Hacl1
|
UTSW |
14 |
31,341,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5929:Hacl1
|
UTSW |
14 |
31,338,345 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6261:Hacl1
|
UTSW |
14 |
31,357,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6996:Hacl1
|
UTSW |
14 |
31,337,380 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7298:Hacl1
|
UTSW |
14 |
31,338,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Hacl1
|
UTSW |
14 |
31,338,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7887:Hacl1
|
UTSW |
14 |
31,356,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8384:Hacl1
|
UTSW |
14 |
31,356,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9139:Hacl1
|
UTSW |
14 |
31,338,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9571:Hacl1
|
UTSW |
14 |
31,344,838 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9598:Hacl1
|
UTSW |
14 |
31,332,197 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9780:Hacl1
|
UTSW |
14 |
31,362,519 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2016-08-02 |
Incidental Mutation