Incidental Mutation 'R7887:Hacl1'
| ID |
609134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hacl1
|
| Ensembl Gene |
ENSMUSG00000021884 |
| Gene Name |
2-hydroxyacyl-CoA lyase 1 |
| Synonyms |
Phyh2, Hpcl, 1600020H07Rik |
| MMRRC Submission |
045939-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7887 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
31329183-31364201 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 31356184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 97
(G97S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022437]
[ENSMUST00000127204]
[ENSMUST00000134626]
[ENSMUST00000156431]
[ENSMUST00000165955]
[ENSMUST00000167066]
[ENSMUST00000167175]
[ENSMUST00000171414]
|
| AlphaFold |
Q9QXE0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022437
AA Change: G97S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022437
Gene: ENSMUSG00000021884
AA Change: G97S
| 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
|
| 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 |
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 |
probably damaging
Transcript: ENSMUST00000156431
AA Change: G97S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114922
Gene: ENSMUSG00000021884
AA Change: G97S
| 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 damaging
Transcript: ENSMUST00000165955
AA Change: G97S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129090
Gene: ENSMUSG00000021884
AA Change: G97S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
105 |
3.7e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167066
AA Change: G97S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132913
Gene: ENSMUSG00000021884
AA Change: G97S
| 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 damaging
Transcript: ENSMUST00000167175
AA Change: G97S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128588
Gene: ENSMUSG00000115022
AA Change: G97S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
139 |
3.6e-35 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171414
AA Change: G97S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130268
Gene: ENSMUSG00000021884
AA Change: G97S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPP_enzyme_N
|
17 |
109 |
1.3e-27 |
PFAM |
|
| Meta Mutation Damage Score |
0.9199 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh8 |
T |
A |
9: 3,385,343 (GRCm39) |
I580N |
probably damaging |
Het |
| Ankrd35 |
C |
T |
3: 96,592,216 (GRCm39) |
T834M |
probably damaging |
Het |
| Astn2 |
C |
T |
4: 65,563,103 (GRCm39) |
V893I |
possibly damaging |
Het |
| B4galt1 |
A |
G |
4: 40,823,501 (GRCm39) |
Y197H |
probably benign |
Het |
| Brdt |
T |
C |
5: 107,507,799 (GRCm39) |
S676P |
possibly damaging |
Het |
| Chrdl2 |
T |
C |
7: 99,678,457 (GRCm39) |
V343A |
possibly damaging |
Het |
| Clcn3 |
A |
T |
8: 61,394,433 (GRCm39) |
M59K |
probably benign |
Het |
| Cpne4 |
A |
T |
9: 104,909,990 (GRCm39) |
N529I |
probably damaging |
Het |
| Crcp |
G |
T |
5: 130,066,711 (GRCm39) |
K32N |
possibly damaging |
Het |
| Ddx54 |
C |
T |
5: 120,765,268 (GRCm39) |
R846C |
probably damaging |
Het |
| Dennd6a |
T |
C |
14: 26,320,812 (GRCm39) |
S118P |
possibly damaging |
Het |
| Egr3 |
A |
G |
14: 70,316,651 (GRCm39) |
Y116C |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,478,662 (GRCm39) |
|
probably null |
Het |
| Focad |
T |
G |
4: 88,100,853 (GRCm39) |
I313M |
probably damaging |
Het |
| Gm10272 |
C |
T |
10: 77,542,779 (GRCm39) |
P107L |
probably benign |
Het |
| Gpr26 |
A |
C |
7: 131,568,702 (GRCm39) |
I16L |
probably benign |
Het |
| Gpr39 |
C |
A |
1: 125,605,279 (GRCm39) |
T69K |
probably damaging |
Het |
| Idh3b |
A |
C |
2: 130,123,678 (GRCm39) |
D136E |
probably damaging |
Het |
| Irf6 |
G |
A |
1: 192,850,040 (GRCm39) |
V321M |
probably damaging |
Het |
| Klrg2 |
T |
A |
6: 38,613,506 (GRCm39) |
T166S |
probably damaging |
Het |
| Lnx2 |
T |
C |
5: 146,955,853 (GRCm39) |
I648V |
probably damaging |
Het |
| Mecr |
A |
G |
4: 131,588,177 (GRCm39) |
|
probably null |
Het |
| Mnat1 |
T |
A |
12: 73,234,965 (GRCm39) |
S205T |
probably benign |
Het |
| Mpnd |
G |
A |
17: 56,318,097 (GRCm39) |
G204D |
probably benign |
Het |
| Myh7 |
C |
T |
14: 55,221,119 (GRCm39) |
E935K |
possibly damaging |
Het |
| Nid1 |
G |
T |
13: 13,674,318 (GRCm39) |
R899L |
possibly damaging |
Het |
| Nisch |
C |
T |
14: 30,898,652 (GRCm39) |
W664* |
probably null |
Het |
| Nudt6 |
C |
T |
3: 37,466,529 (GRCm39) |
V157I |
possibly damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
| Or51h7 |
A |
C |
7: 102,591,358 (GRCm39) |
L142R |
possibly damaging |
Het |
| Or5l13 |
T |
C |
2: 87,780,224 (GRCm39) |
M118V |
probably damaging |
Het |
| Or8g31-ps1 |
A |
T |
9: 39,276,175 (GRCm39) |
M107L |
unknown |
Het |
| Parg |
T |
A |
14: 31,939,619 (GRCm39) |
D548E |
possibly damaging |
Het |
| Pclo |
GTCTAT |
GTCTATTCTAT |
5: 14,764,204 (GRCm39) |
|
probably null |
Het |
| Phf11d |
A |
G |
14: 59,597,029 (GRCm39) |
Y57H |
probably damaging |
Het |
| Prkaca |
T |
C |
8: 84,713,524 (GRCm39) |
V99A |
probably benign |
Het |
| Rnf144b |
T |
A |
13: 47,393,287 (GRCm39) |
C209S |
probably damaging |
Het |
| Scly |
G |
A |
1: 91,228,363 (GRCm39) |
|
probably null |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,255,133 (GRCm39) |
Y872C |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,099,410 (GRCm39) |
|
probably null |
Het |
| Strap |
T |
G |
6: 137,716,807 (GRCm39) |
L129V |
possibly damaging |
Het |
| Sympk |
T |
C |
7: 18,768,364 (GRCm39) |
I111T |
possibly damaging |
Het |
| Tprn |
C |
A |
2: 25,154,024 (GRCm39) |
A442E |
probably damaging |
Het |
| Tsen34 |
T |
C |
7: 3,697,707 (GRCm39) |
L36P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,135,121 (GRCm39) |
F818L |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,247,115 (GRCm39) |
Y294C |
probably damaging |
Het |
| Usp20 |
A |
G |
2: 30,910,906 (GRCm39) |
K862E |
probably benign |
Het |
| Vmn1r201 |
A |
T |
13: 22,658,956 (GRCm39) |
I57F |
probably damaging |
Het |
| Wdr64 |
C |
T |
1: 175,613,111 (GRCm39) |
A662V |
not run |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGAACGTTTGCACCGTTCC -3'
(R):5'- GGAAACCCTAACATACGATGAATTGG -3'
Sequencing Primer
(F):5'- TGACGGCCAGACCACTTC -3'
(R):5'- GATCCATGACCTCTGCTT -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation