Incidental Mutation 'IGL02138:Hacl1'
| ID |
281419 |
| 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 # |
IGL02138
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
31329183-31364201 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31352940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 149
(L149P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022437]
[ENSMUST00000127204]
[ENSMUST00000128629]
[ENSMUST00000134626]
[ENSMUST00000156431]
[ENSMUST00000165955]
[ENSMUST00000167066]
[ENSMUST00000167175]
[ENSMUST00000171414]
|
| AlphaFold |
Q9QXE0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022437
AA Change: L149P
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000022437
Gene: ENSMUSG00000021884
AA Change: L149P
| 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: ENSMUST00000127204
AA Change: L122P
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000120452
Gene: ENSMUSG00000021884
AA Change: L122P
| 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 benign
Transcript: ENSMUST00000156431
AA Change: L149P
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000114922
Gene: ENSMUSG00000021884
AA Change: L149P
| 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 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 |
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
G |
14: 32,384,672 (GRCm39) |
D431A |
possibly damaging |
Het |
| Adgrb1 |
T |
C |
15: 74,401,631 (GRCm39) |
M209T |
probably damaging |
Het |
| Ano8 |
T |
C |
8: 71,937,486 (GRCm39) |
H86R |
probably damaging |
Het |
| Camk1d |
G |
T |
2: 5,449,895 (GRCm39) |
Y87* |
probably null |
Het |
| Capza3 |
A |
G |
6: 139,987,872 (GRCm39) |
D157G |
probably benign |
Het |
| Ckmt2 |
A |
T |
13: 92,009,947 (GRCm39) |
D124E |
probably benign |
Het |
| Col14a1 |
C |
A |
15: 55,284,231 (GRCm39) |
Q831K |
unknown |
Het |
| Copb2 |
C |
T |
9: 98,469,605 (GRCm39) |
P829S |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,208,419 (GRCm39) |
V929A |
probably benign |
Het |
| Dolk |
A |
G |
2: 30,175,991 (GRCm39) |
V18A |
probably benign |
Het |
| Ecm2 |
G |
T |
13: 49,676,304 (GRCm39) |
L340F |
probably damaging |
Het |
| Higd2a |
A |
T |
13: 54,738,235 (GRCm39) |
|
probably null |
Het |
| Hspa12a |
A |
T |
19: 58,816,730 (GRCm39) |
S28R |
probably benign |
Het |
| Igkv5-37 |
A |
G |
6: 69,940,435 (GRCm39) |
Y70H |
probably damaging |
Het |
| Iho1 |
G |
A |
9: 108,283,820 (GRCm39) |
T208I |
probably benign |
Het |
| Kif11 |
T |
C |
19: 37,373,057 (GRCm39) |
V92A |
probably damaging |
Het |
| Kif26a |
T |
C |
12: 112,141,284 (GRCm39) |
S696P |
probably damaging |
Het |
| Kng1 |
A |
T |
16: 22,886,558 (GRCm39) |
N168Y |
probably damaging |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Lepr |
A |
G |
4: 101,625,264 (GRCm39) |
D473G |
probably damaging |
Het |
| Lipt1 |
G |
A |
1: 37,914,867 (GRCm39) |
E308K |
possibly damaging |
Het |
| Luc7l3 |
A |
T |
11: 94,194,792 (GRCm39) |
F76Y |
probably benign |
Het |
| Mapk1 |
A |
G |
16: 16,841,316 (GRCm39) |
I163V |
probably benign |
Het |
| Matn3 |
A |
G |
12: 9,017,638 (GRCm39) |
E430G |
possibly damaging |
Het |
| Med13 |
A |
T |
11: 86,177,591 (GRCm39) |
S1502T |
probably damaging |
Het |
| Mlf1 |
A |
T |
3: 67,307,046 (GRCm39) |
H237L |
probably benign |
Het |
| Mss51 |
A |
C |
14: 20,534,923 (GRCm39) |
Y282* |
probably null |
Het |
| Ncoa3 |
A |
G |
2: 165,897,182 (GRCm39) |
T658A |
probably benign |
Het |
| Or1p1c |
A |
T |
11: 74,160,544 (GRCm39) |
M110L |
probably benign |
Het |
| Or7d11 |
A |
T |
9: 19,966,196 (GRCm39) |
S188T |
probably benign |
Het |
| Phrf1 |
T |
A |
7: 140,839,196 (GRCm39) |
|
probably benign |
Het |
| Ppme1 |
C |
T |
7: 99,983,139 (GRCm39) |
M335I |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sntg2 |
T |
A |
12: 30,357,230 (GRCm39) |
|
probably null |
Het |
| Spryd3 |
T |
C |
15: 102,027,354 (GRCm39) |
|
probably benign |
Het |
| Srpx |
A |
G |
X: 9,933,662 (GRCm39) |
|
probably null |
Het |
| St8sia1 |
G |
T |
6: 142,909,504 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
A |
G |
14: 30,865,470 (GRCm39) |
|
probably null |
Het |
| Sycp2 |
A |
T |
2: 178,000,047 (GRCm39) |
S976R |
probably benign |
Het |
| Sycp2 |
T |
A |
2: 178,043,783 (GRCm39) |
K108* |
probably null |
Het |
| Tagap1 |
T |
C |
17: 7,223,485 (GRCm39) |
T404A |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,589,082 (GRCm39) |
T21I |
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,759,202 (GRCm39) |
Y665F |
probably damaging |
Het |
| Tmc8 |
T |
G |
11: 117,682,081 (GRCm39) |
S525A |
probably benign |
Het |
| Tor4a |
A |
T |
2: 25,084,810 (GRCm39) |
D364E |
probably benign |
Het |
| Trim44 |
T |
C |
2: 102,211,253 (GRCm39) |
I236V |
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,434,226 (GRCm39) |
|
probably benign |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,347,300 (GRCm39) |
R3180S |
probably benign |
Het |
| Zfp335 |
A |
G |
2: 164,735,724 (GRCm39) |
C1077R |
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 |
|
IGL01952:Hacl1
|
APN |
14 |
31,363,079 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02059:Hacl1
|
APN |
14 |
31,354,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2015-04-16 |
Incidental Mutation