Incidental Mutation 'IGL01952:Hacl1'
| ID |
181089 |
| 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 # |
IGL01952
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
31329183-31364201 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 31363079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022437]
[ENSMUST00000090147]
[ENSMUST00000127204]
[ENSMUST00000128629]
[ENSMUST00000134626]
[ENSMUST00000171414]
[ENSMUST00000167066]
[ENSMUST00000167175]
[ENSMUST00000165955]
[ENSMUST00000156431]
|
| AlphaFold |
Q9QXE0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022437
|
| SMART Domains |
Protein: ENSMUSP00000022437
Gene: ENSMUSG00000021884
| 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 benign
Transcript: ENSMUST00000090147
|
| SMART Domains |
Protein: ENSMUSP00000087608
Gene: ENSMUSG00000021900
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:CN_hydrolase
|
63 |
287 |
3.9e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127204
|
| SMART Domains |
Protein: ENSMUSP00000120452
Gene: ENSMUSG00000021884
| 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: ENSMUST00000128014
|
| 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: ENSMUST00000156189
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155210
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171414
|
| SMART Domains |
Protein: ENSMUSP00000130268
Gene: ENSMUSG00000021884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
109 |
1.3e-27 |
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 |
|
| 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: ENSMUST00000156431
|
| SMART Domains |
Protein: ENSMUSP00000114922
Gene: ENSMUSG00000021884
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Astl |
T |
C |
2: 127,184,398 (GRCm39) |
|
probably null |
Het |
| Bod1l |
C |
T |
5: 41,974,297 (GRCm39) |
C2339Y |
possibly damaging |
Het |
| Celsr1 |
T |
A |
15: 85,847,424 (GRCm39) |
I1438F |
probably benign |
Het |
| Dbr1 |
T |
A |
9: 99,464,465 (GRCm39) |
N297K |
possibly damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,023,721 (GRCm39) |
H1668R |
probably benign |
Het |
| Dnai3 |
T |
C |
3: 145,802,918 (GRCm39) |
H91R |
probably damaging |
Het |
| Dnajb11 |
A |
G |
16: 22,684,250 (GRCm39) |
E91G |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Grin2d |
C |
A |
7: 45,511,704 (GRCm39) |
R247L |
probably benign |
Het |
| Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,018,075 (GRCm39) |
T1854K |
possibly damaging |
Het |
| Htr1d |
T |
C |
4: 136,170,872 (GRCm39) |
V367A |
probably benign |
Het |
| Ifi208 |
T |
C |
1: 173,506,597 (GRCm39) |
S127P |
possibly damaging |
Het |
| Ifngr2 |
C |
T |
16: 91,356,876 (GRCm39) |
P137S |
probably damaging |
Het |
| Lcn9 |
T |
C |
2: 25,714,550 (GRCm39) |
L138P |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,723,657 (GRCm39) |
V2531A |
possibly damaging |
Het |
| Meioc |
A |
T |
11: 102,563,011 (GRCm39) |
I70F |
possibly damaging |
Het |
| Mideas |
G |
A |
12: 84,220,040 (GRCm39) |
P305S |
probably benign |
Het |
| Mlph |
A |
C |
1: 90,861,193 (GRCm39) |
D276A |
probably benign |
Het |
| Myh1 |
T |
A |
11: 67,111,218 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
G |
A |
7: 26,257,444 (GRCm39) |
S265N |
probably benign |
Het |
| Ofcc1 |
G |
A |
13: 40,434,337 (GRCm39) |
A22V |
probably damaging |
Het |
| Or11j4 |
T |
A |
14: 50,630,860 (GRCm39) |
F216I |
probably benign |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Prlr |
A |
G |
15: 10,328,428 (GRCm39) |
D301G |
possibly damaging |
Het |
| Ptk2 |
T |
C |
15: 73,101,780 (GRCm39) |
E810G |
probably damaging |
Het |
| Slco1b2 |
T |
G |
6: 141,616,956 (GRCm39) |
F430V |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Supt6 |
T |
C |
11: 78,116,586 (GRCm39) |
K646R |
probably benign |
Het |
| Tmem260 |
C |
T |
14: 48,709,933 (GRCm39) |
A52V |
probably damaging |
Het |
| Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
| Tulp1 |
G |
A |
17: 28,575,398 (GRCm39) |
T103M |
probably damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,308,528 (GRCm39) |
P770S |
probably benign |
Het |
| Zfp639 |
A |
G |
3: 32,569,496 (GRCm39) |
Y18C |
probably damaging |
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 |
|
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 |
|
IGL03235:Hacl1
|
APN |
14 |
31,352,995 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2014-05-07 |
Incidental Mutation