Incidental Mutation 'R5868:Hacl1'
| ID |
454296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hacl1
|
| Ensembl Gene |
ENSMUSG00000021884 |
| Gene Name |
2-hydroxyacyl-CoA lyase 1 |
| Synonyms |
Hpcl, Phyh2 |
| MMRRC Submission |
044076-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5868 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
31598730-31641286 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 31619916 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 311
(A311S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022437]
[ENSMUST00000127204]
[ENSMUST00000156431]
[ENSMUST00000165955]
[ENSMUST00000167066]
[ENSMUST00000167175]
[ENSMUST00000171414]
|
| AlphaFold |
Q9QXE0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022437
AA Change: A311S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022437
Gene: ENSMUSG00000021884
AA Change: A311S
| 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: A284S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120452
Gene: ENSMUSG00000021884
AA Change: A284S
| 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 damaging
Transcript: ENSMUST00000156431
AA Change: A311S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114922
Gene: ENSMUSG00000021884
AA Change: A311S
| 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 damaging
Transcript: ENSMUST00000167066
AA Change: A285S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132913
Gene: ENSMUSG00000021884
AA Change: A285S
| 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 |
|
| Meta Mutation Damage Score |
0.6279 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.8%
|
| Validation Efficiency |
95% (58/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
C |
A |
11: 69,897,575 (GRCm38) |
K394N |
possibly damaging |
Het |
| Adamts18 |
T |
A |
8: 113,777,748 (GRCm38) |
Q80L |
possibly damaging |
Het |
| Apbb2 |
T |
A |
5: 66,452,096 (GRCm38) |
K69N |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,842,183 (GRCm38) |
R1991* |
probably null |
Het |
| BC035947 |
T |
A |
1: 78,498,323 (GRCm38) |
N524I |
probably damaging |
Het |
| Bpifa1 |
A |
G |
2: 154,143,876 (GRCm38) |
N37S |
unknown |
Het |
| Cfap91 |
T |
A |
16: 38,332,242 (GRCm38) |
D202V |
probably damaging |
Het |
| Crnkl1 |
A |
T |
2: 145,918,553 (GRCm38) |
D648E |
probably benign |
Het |
| Cul5 |
C |
A |
9: 53,658,673 (GRCm38) |
G86V |
probably benign |
Het |
| Cyfip1 |
A |
C |
7: 55,926,313 (GRCm38) |
D1077A |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,896,729 (GRCm38) |
S1117P |
probably benign |
Het |
| Dnaaf8 |
T |
C |
16: 4,974,068 (GRCm38) |
|
noncoding transcript |
Het |
| Elmo2 |
A |
T |
2: 165,294,272 (GRCm38) |
M618K |
possibly damaging |
Het |
| Fggy |
A |
G |
4: 95,696,988 (GRCm38) |
T35A |
probably damaging |
Het |
| Gad2 |
G |
A |
2: 22,685,067 (GRCm38) |
|
probably null |
Het |
| Gtf3c2 |
A |
C |
5: 31,168,081 (GRCm38) |
F455V |
possibly damaging |
Het |
| Hist4h4 |
C |
T |
6: 136,804,294 (GRCm38) |
G29D |
probably damaging |
Het |
| Kat6b |
G |
A |
14: 21,634,479 (GRCm38) |
D611N |
probably damaging |
Het |
| Kifap3 |
T |
C |
1: 163,865,472 (GRCm38) |
I611T |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,319,604 (GRCm38) |
Y683C |
probably damaging |
Het |
| Mfsd14a |
T |
C |
3: 116,633,750 (GRCm38) |
N413S |
probably benign |
Het |
| Mtmr11 |
T |
A |
3: 96,171,202 (GRCm38) |
D691E |
possibly damaging |
Het |
| Mzf1 |
A |
T |
7: 13,053,189 (GRCm38) |
F64I |
probably benign |
Het |
| Neu2 |
G |
T |
1: 87,596,756 (GRCm38) |
Q154H |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,489,157 (GRCm38) |
|
probably null |
Het |
| Nod1 |
C |
A |
6: 54,939,327 (GRCm38) |
K128N |
probably damaging |
Het |
| Noxred1 |
T |
A |
12: 87,224,202 (GRCm38) |
Q215L |
possibly damaging |
Het |
| Npat |
A |
G |
9: 53,570,124 (GRCm38) |
E1044G |
probably damaging |
Het |
| Npr1 |
A |
G |
3: 90,459,493 (GRCm38) |
|
probably benign |
Het |
| Pdcd6 |
T |
C |
13: 74,304,014 (GRCm38) |
D169G |
probably damaging |
Het |
| Pld3 |
G |
T |
7: 27,537,668 (GRCm38) |
T262N |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,322,722 (GRCm38) |
|
probably benign |
Het |
| Prh1 |
A |
G |
6: 132,572,211 (GRCm38) |
Q227R |
unknown |
Het |
| Prtg |
C |
A |
9: 72,809,717 (GRCm38) |
Y113* |
probably null |
Het |
| Rbm27 |
T |
A |
18: 42,300,385 (GRCm38) |
V242E |
possibly damaging |
Het |
| Ripor1 |
T |
C |
8: 105,616,004 (GRCm38) |
L198P |
probably damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,616,711 (GRCm38) |
|
probably null |
Het |
| Serpinf2 |
T |
C |
11: 75,433,239 (GRCm38) |
T321A |
probably benign |
Het |
| Sh3gl1 |
T |
C |
17: 56,019,119 (GRCm38) |
D129G |
probably damaging |
Het |
| Slc12a2 |
C |
A |
18: 57,943,996 (GRCm38) |
P1189Q |
probably damaging |
Het |
| Slc16a9 |
T |
C |
10: 70,282,490 (GRCm38) |
M213T |
probably benign |
Het |
| Spata31f3 |
A |
T |
4: 42,871,711 (GRCm38) |
D221E |
probably damaging |
Het |
| Svil |
G |
A |
18: 5,056,854 (GRCm38) |
|
probably null |
Het |
| Synpo |
A |
G |
18: 60,604,046 (GRCm38) |
L37P |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,882,746 (GRCm38) |
H87R |
probably benign |
Het |
| Tmtc1 |
A |
T |
6: 148,237,855 (GRCm38) |
L885Q |
probably damaging |
Het |
| Ttc41 |
T |
C |
10: 86,750,264 (GRCm38) |
S811P |
possibly damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,712,942 (GRCm38) |
V259A |
probably benign |
Het |
| Wwox |
T |
A |
8: 114,679,846 (GRCm38) |
H192Q |
probably benign |
Het |
|
| Other mutations in Hacl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01358:Hacl1
|
APN |
14 |
31,626,417 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01548:Hacl1
|
APN |
14 |
31,640,596 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL01952:Hacl1
|
APN |
14 |
31,641,122 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02059:Hacl1
|
APN |
14 |
31,632,934 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02138:Hacl1
|
APN |
14 |
31,630,983 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02637:Hacl1
|
APN |
14 |
31,640,501 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03235:Hacl1
|
APN |
14 |
31,631,038 (GRCm38) |
nonsense |
probably null |
|
|
R0502:Hacl1
|
UTSW |
14 |
31,622,984 (GRCm38) |
splice site |
probably benign |
|
|
R1697:Hacl1
|
UTSW |
14 |
31,621,000 (GRCm38) |
splice site |
probably null |
|
|
R1800:Hacl1
|
UTSW |
14 |
31,614,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1829:Hacl1
|
UTSW |
14 |
31,640,534 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3937:Hacl1
|
UTSW |
14 |
31,634,191 (GRCm38) |
splice site |
probably benign |
|
|
R3938:Hacl1
|
UTSW |
14 |
31,634,191 (GRCm38) |
splice site |
probably benign |
|
|
R5004:Hacl1
|
UTSW |
14 |
31,619,039 (GRCm38) |
missense |
probably benign |
|
|
R5776:Hacl1
|
UTSW |
14 |
31,622,871 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5929:Hacl1
|
UTSW |
14 |
31,616,388 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6261:Hacl1
|
UTSW |
14 |
31,635,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6996:Hacl1
|
UTSW |
14 |
31,615,423 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R7298:Hacl1
|
UTSW |
14 |
31,616,486 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7768:Hacl1
|
UTSW |
14 |
31,616,480 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7887:Hacl1
|
UTSW |
14 |
31,634,227 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8384:Hacl1
|
UTSW |
14 |
31,634,197 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9139:Hacl1
|
UTSW |
14 |
31,616,381 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9571:Hacl1
|
UTSW |
14 |
31,622,881 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R9598:Hacl1
|
UTSW |
14 |
31,610,240 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9780:Hacl1
|
UTSW |
14 |
31,640,562 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTAGACATGCCACCAAGTA -3'
(R):5'- TTCCTAAAGGATTTTAAGAGCAAACA -3'
Sequencing Primer
(F):5'- GTAAATCAAAAGGAGCCTTGTCC -3'
(R):5'- TCGTTGGATACCAGGCATAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation