Incidental Mutation 'R0664:Hlcs'
| ID |
61956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hlcs
|
| Ensembl Gene |
ENSMUSG00000040820 |
| Gene Name |
holocarboxylase synthetase (biotin- [propriony-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase) |
| Synonyms |
D16Jhu34, 410I21.SP6 |
| MMRRC Submission |
038849-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0664 (G1)
|
| Quality Score |
127 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
93929741-94114430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94032170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 545
(W545R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099512]
[ENSMUST00000163193]
[ENSMUST00000227141]
[ENSMUST00000228910]
|
| AlphaFold |
Q920N2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099512
AA Change: W398R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097112
Gene: ENSMUSG00000040820
AA Change: W398R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
|
Pfam:BPL_LplA_LipB
|
467 |
599 |
1.9e-21 |
PFAM |
|
Pfam:BPL_C
|
665 |
714 |
3.7e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163193
AA Change: W398R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130981
Gene: ENSMUSG00000040820
AA Change: W398R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
|
Pfam:BPL_LplA_LipB
|
467 |
599 |
3.6e-30 |
PFAM |
|
Pfam:BPL_C
|
665 |
714 |
4.9e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226776
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227141
AA Change: W545R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228910
AA Change: W3R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.7139 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| A530064D06Rik |
T |
C |
17: 48,473,759 (GRCm39) |
I53V |
probably benign |
Het |
| Abtb3 |
G |
A |
10: 85,224,234 (GRCm39) |
A348T |
possibly damaging |
Het |
| Agmo |
A |
T |
12: 37,302,571 (GRCm39) |
H136L |
probably damaging |
Het |
| B020004C17Rik |
G |
A |
14: 57,254,225 (GRCm39) |
R116H |
possibly damaging |
Het |
| Cacna1b |
A |
G |
2: 24,544,458 (GRCm39) |
S1243P |
probably damaging |
Het |
| Champ1 |
G |
A |
8: 13,929,485 (GRCm39) |
V548M |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,364,002 (GRCm39) |
M3541L |
probably damaging |
Het |
| Emc9 |
A |
G |
14: 55,819,365 (GRCm39) |
L138P |
possibly damaging |
Het |
| Epcam |
T |
A |
17: 87,947,398 (GRCm39) |
Y51N |
possibly damaging |
Het |
| Gpr55 |
A |
T |
1: 85,868,739 (GRCm39) |
S281T |
probably benign |
Het |
| Grid2ip |
T |
A |
5: 143,349,732 (GRCm39) |
|
probably null |
Het |
| Hgfac |
G |
T |
5: 35,205,522 (GRCm39) |
V601F |
probably benign |
Het |
| Hsd17b2 |
T |
C |
8: 118,485,440 (GRCm39) |
V301A |
possibly damaging |
Het |
| Ipo8 |
A |
T |
6: 148,701,711 (GRCm39) |
L466I |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,676,063 (GRCm39) |
D1275G |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,768,011 (GRCm39) |
E5315* |
probably null |
Het |
| Nfam1 |
T |
C |
15: 82,899,139 (GRCm39) |
T176A |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,204,267 (GRCm39) |
F432S |
probably damaging |
Het |
| Or4c31 |
C |
T |
2: 88,292,515 (GRCm39) |
P296L |
probably damaging |
Het |
| Prmt5 |
G |
T |
14: 54,745,313 (GRCm39) |
T618K |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Serpinb7 |
A |
G |
1: 107,356,037 (GRCm39) |
D20G |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,758,467 (GRCm39) |
I515V |
probably benign |
Het |
| Stk26 |
T |
A |
X: 49,976,803 (GRCm39) |
Y283* |
probably null |
Het |
| Tanc1 |
A |
T |
2: 59,674,228 (GRCm39) |
K1778* |
probably null |
Het |
| Thada |
A |
G |
17: 84,644,257 (GRCm39) |
L1288P |
probably damaging |
Het |
| Ttbk2 |
C |
A |
2: 120,579,302 (GRCm39) |
V607F |
probably damaging |
Het |
|
| Other mutations in Hlcs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01078:Hlcs
|
APN |
16 |
93,934,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02026:Hlcs
|
APN |
16 |
93,935,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02341:Hlcs
|
APN |
16 |
94,031,969 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03075:Hlcs
|
APN |
16 |
93,939,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Hlcs
|
UTSW |
16 |
94,068,275 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0372:Hlcs
|
UTSW |
16 |
93,939,766 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0731:Hlcs
|
UTSW |
16 |
93,932,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Hlcs
|
UTSW |
16 |
94,069,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1465:Hlcs
|
UTSW |
16 |
94,069,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1761:Hlcs
|
UTSW |
16 |
94,068,866 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2013:Hlcs
|
UTSW |
16 |
94,063,599 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2014:Hlcs
|
UTSW |
16 |
94,063,599 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2015:Hlcs
|
UTSW |
16 |
94,063,599 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2204:Hlcs
|
UTSW |
16 |
94,032,011 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2371:Hlcs
|
UTSW |
16 |
94,068,926 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3816:Hlcs
|
UTSW |
16 |
93,933,947 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3822:Hlcs
|
UTSW |
16 |
94,068,840 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4422:Hlcs
|
UTSW |
16 |
93,939,819 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4657:Hlcs
|
UTSW |
16 |
94,063,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4783:Hlcs
|
UTSW |
16 |
94,069,398 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5347:Hlcs
|
UTSW |
16 |
94,068,383 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5808:Hlcs
|
UTSW |
16 |
94,063,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5940:Hlcs
|
UTSW |
16 |
93,935,571 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6341:Hlcs
|
UTSW |
16 |
94,032,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6943:Hlcs
|
UTSW |
16 |
93,942,261 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7053:Hlcs
|
UTSW |
16 |
94,068,874 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7157:Hlcs
|
UTSW |
16 |
94,069,023 (GRCm39) |
nonsense |
probably null |
|
|
R7166:Hlcs
|
UTSW |
16 |
94,063,585 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7313:Hlcs
|
UTSW |
16 |
94,068,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7427:Hlcs
|
UTSW |
16 |
94,068,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7428:Hlcs
|
UTSW |
16 |
94,068,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7547:Hlcs
|
UTSW |
16 |
94,032,031 (GRCm39) |
nonsense |
probably null |
|
|
R7548:Hlcs
|
UTSW |
16 |
93,933,876 (GRCm39) |
nonsense |
probably null |
|
|
R8172:Hlcs
|
UTSW |
16 |
94,068,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8241:Hlcs
|
UTSW |
16 |
94,068,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8500:Hlcs
|
UTSW |
16 |
94,063,617 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8940:Hlcs
|
UTSW |
16 |
94,032,085 (GRCm39) |
missense |
probably benign |
|
|
R9274:Hlcs
|
UTSW |
16 |
94,088,785 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9360:Hlcs
|
UTSW |
16 |
93,932,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9361:Hlcs
|
UTSW |
16 |
93,939,799 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9564:Hlcs
|
UTSW |
16 |
93,935,580 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0065:Hlcs
|
UTSW |
16 |
93,934,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Hlcs
|
UTSW |
16 |
94,063,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTCATTCACATGATGGGCAGAC -3'
(R):5'- TGCGTGGGTTCAGATGTACCAAC -3'
Sequencing Primer
(F):5'- TGGAGGTCACTTCTGCAAAC -3'
(R):5'- GGGTTCAGATGTACCAACTCTGTC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation