Incidental Mutation 'IGL02059:Hacl1'
ID |
185321 |
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 # |
IGL02059
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
31329183-31364201 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 31354891 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 118
(N118D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132913
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022437]
[ENSMUST00000127204]
[ENSMUST00000128629]
[ENSMUST00000134626]
[ENSMUST00000156431]
[ENSMUST00000167175]
[ENSMUST00000167066]
[ENSMUST00000171414]
[ENSMUST00000165955]
|
AlphaFold |
Q9QXE0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022437
AA Change: N118D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000022437 Gene: ENSMUSG00000021884 AA Change: N118D
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: N91D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000120452 Gene: ENSMUSG00000021884 AA Change: N91D
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 |
probably benign
Transcript: ENSMUST00000156431
AA Change: N118D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000114922 Gene: ENSMUSG00000021884 AA Change: N118D
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: ENSMUST00000167175
AA Change: N118D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000128588 Gene: ENSMUSG00000115022 AA Change: N118D
Domain | Start | End | E-Value | Type |
Pfam:TPP_enzyme_N
|
17 |
139 |
3.6e-35 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167066
AA Change: N118D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000132913 Gene: ENSMUSG00000021884 AA Change: N118D
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 |
noncoding transcript
Transcript: ENSMUST00000156189
|
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: ENSMUST00000165955
|
SMART Domains |
Protein: ENSMUSP00000129090 Gene: ENSMUSG00000021884
Domain | Start | End | E-Value | Type |
Pfam:TPP_enzyme_N
|
17 |
105 |
3.7e-28 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
C |
11: 110,051,220 (GRCm39) |
|
probably benign |
Het |
Anks1 |
A |
G |
17: 28,227,020 (GRCm39) |
M558V |
possibly damaging |
Het |
Arhgef1 |
T |
A |
7: 24,611,977 (GRCm39) |
|
probably benign |
Het |
Atad3a |
G |
A |
4: 155,839,207 (GRCm39) |
|
probably benign |
Het |
Bhmt2 |
A |
G |
13: 93,803,171 (GRCm39) |
Y121H |
probably benign |
Het |
Cbx5 |
A |
G |
15: 103,108,192 (GRCm39) |
V151A |
probably damaging |
Het |
Copa |
T |
A |
1: 171,927,320 (GRCm39) |
I231N |
probably damaging |
Het |
Csf3r |
T |
A |
4: 125,925,920 (GRCm39) |
C168* |
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,963,784 (GRCm39) |
I1723N |
probably damaging |
Het |
Epb42 |
G |
A |
2: 120,855,188 (GRCm39) |
P466S |
probably damaging |
Het |
Fem1b |
C |
T |
9: 62,703,446 (GRCm39) |
V605I |
possibly damaging |
Het |
Gclc |
T |
G |
9: 77,695,098 (GRCm39) |
S403A |
probably damaging |
Het |
Gpr135 |
A |
T |
12: 72,116,858 (GRCm39) |
V303D |
possibly damaging |
Het |
Gprin3 |
C |
A |
6: 59,332,310 (GRCm39) |
|
probably benign |
Het |
Grik1 |
T |
A |
16: 87,852,937 (GRCm39) |
Q82L |
possibly damaging |
Het |
Hdac9 |
A |
G |
12: 34,481,967 (GRCm39) |
V146A |
probably damaging |
Het |
Hltf |
T |
C |
3: 20,160,621 (GRCm39) |
F763L |
probably benign |
Het |
Impg2 |
C |
T |
16: 56,080,335 (GRCm39) |
S713L |
probably damaging |
Het |
Ints7 |
T |
A |
1: 191,347,872 (GRCm39) |
M748K |
probably benign |
Het |
Kalrn |
A |
G |
16: 34,072,711 (GRCm39) |
S724P |
possibly damaging |
Het |
Kyat1 |
T |
C |
2: 30,075,565 (GRCm39) |
Q359R |
probably benign |
Het |
Mtmr4 |
A |
G |
11: 87,491,950 (GRCm39) |
N206S |
possibly damaging |
Het |
Nos3 |
T |
C |
5: 24,573,996 (GRCm39) |
I227T |
probably damaging |
Het |
Or52e2 |
T |
C |
7: 102,804,310 (GRCm39) |
I215V |
probably benign |
Het |
Pde1a |
A |
T |
2: 79,727,421 (GRCm39) |
H169Q |
possibly damaging |
Het |
Ppp1r13b |
A |
T |
12: 111,799,781 (GRCm39) |
D665E |
probably damaging |
Het |
Prickle4 |
G |
T |
17: 48,001,174 (GRCm39) |
L131M |
probably damaging |
Het |
Prl6a1 |
T |
A |
13: 27,499,348 (GRCm39) |
Y39N |
probably benign |
Het |
Slco6d1 |
T |
C |
1: 98,374,531 (GRCm39) |
V350A |
possibly damaging |
Het |
Srsf7 |
T |
A |
17: 80,510,121 (GRCm39) |
S209C |
probably null |
Het |
Syde2 |
C |
T |
3: 145,707,927 (GRCm39) |
A622V |
possibly damaging |
Het |
Ugt1a6a |
T |
A |
1: 88,066,403 (GRCm39) |
S70T |
possibly damaging |
Het |
Vmn2r39 |
T |
C |
7: 9,026,643 (GRCm39) |
I453V |
probably benign |
Het |
Zc3h7a |
A |
G |
16: 10,978,862 (GRCm39) |
|
probably benign |
Het |
Zeb1 |
G |
T |
18: 5,766,892 (GRCm39) |
V468F |
probably damaging |
Het |
Zfp148 |
T |
A |
16: 33,316,933 (GRCm39) |
V493D |
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 |
|
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 |