Incidental Mutation 'R1280:Cers6'
| ID |
150992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cers6
|
| Ensembl Gene |
ENSMUSG00000027035 |
| Gene Name |
ceramide synthase 6 |
| Synonyms |
similar to TRH1, CerS6, T1L, Lass6, 4732462C07Rik |
| MMRRC Submission |
039346-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
R1280 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
68691785-68944626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 68899033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 224
(V224I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028426]
[ENSMUST00000176018]
|
| AlphaFold |
Q8C172 |
| PDB Structure |
Solution structure of the homeobox domain of mouse LAG1 longevity assurance homolog 6 [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028426
AA Change: V224I
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000028426
Gene: ENSMUSG00000027035
AA Change: V224I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TLC
|
10 |
57 |
6e-7 |
BLAST |
|
HOX
|
73 |
131 |
2.92e-2 |
SMART |
|
TLC
|
130 |
331 |
1.21e-74 |
SMART |
|
low complexity region
|
336 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
373 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175684
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176018
AA Change: V224I
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000135604
Gene: ENSMUSG00000027035
AA Change: V224I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TLC
|
10 |
57 |
7e-7 |
BLAST |
|
HOX
|
73 |
131 |
2.92e-2 |
SMART |
|
TLC
|
130 |
331 |
1.21e-74 |
SMART |
|
low complexity region
|
344 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
381 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knockout allele exhibit hind limb clasping, habituation deficit and altered lipid homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Atp5mc3 |
G |
T |
2: 73,739,714 (GRCm39) |
T42K |
possibly damaging |
Het |
| Brd2 |
T |
C |
17: 34,333,124 (GRCm39) |
M60V |
possibly damaging |
Het |
| Cabp1 |
T |
C |
5: 115,313,530 (GRCm39) |
N226S |
probably benign |
Het |
| Entpd2 |
C |
T |
2: 25,289,496 (GRCm39) |
S326F |
probably damaging |
Het |
| Fez1 |
GACAAACA |
GACA |
9: 36,781,845 (GRCm39) |
|
probably null |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Klhdc7a |
G |
A |
4: 139,692,764 (GRCm39) |
R728C |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,871,671 (GRCm39) |
|
probably null |
Het |
| Mzf1 |
A |
T |
7: 12,787,010 (GRCm39) |
L20Q |
probably damaging |
Het |
| Neil1 |
T |
C |
9: 57,054,185 (GRCm39) |
Y45C |
probably damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Rbm12 |
T |
C |
2: 155,938,749 (GRCm39) |
K508E |
probably damaging |
Het |
| Socs4 |
A |
T |
14: 47,528,370 (GRCm39) |
Q435L |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 112,005,842 (GRCm39) |
V905A |
probably damaging |
Het |
| Tekt4 |
T |
A |
17: 25,690,861 (GRCm39) |
W56R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,608,508 (GRCm39) |
I16059N |
possibly damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,791,283 (GRCm39) |
V269A |
possibly damaging |
Het |
| Vps54 |
T |
A |
11: 21,227,868 (GRCm39) |
I273N |
possibly damaging |
Het |
| Zfp831 |
A |
G |
2: 174,545,852 (GRCm39) |
K1319R |
probably benign |
Het |
|
| Other mutations in Cers6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02513:Cers6
|
APN |
2 |
68,899,013 (GRCm39) |
missense |
probably benign |
|
|
IGL02897:Cers6
|
APN |
2 |
68,764,877 (GRCm39) |
nonsense |
probably null |
|
|
IGL03299:Cers6
|
APN |
2 |
68,692,128 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0520:Cers6
|
UTSW |
2 |
68,935,435 (GRCm39) |
nonsense |
probably null |
|
|
R2497:Cers6
|
UTSW |
2 |
68,901,790 (GRCm39) |
splice site |
probably benign |
|
|
R4843:Cers6
|
UTSW |
2 |
68,899,003 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4931:Cers6
|
UTSW |
2 |
68,935,456 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5723:Cers6
|
UTSW |
2 |
68,938,789 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5973:Cers6
|
UTSW |
2 |
68,898,969 (GRCm39) |
splice site |
probably null |
|
|
R6058:Cers6
|
UTSW |
2 |
68,692,008 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6453:Cers6
|
UTSW |
2 |
68,877,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6788:Cers6
|
UTSW |
2 |
68,938,903 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7493:Cers6
|
UTSW |
2 |
68,692,151 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8055:Cers6
|
UTSW |
2 |
68,777,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8364:Cers6
|
UTSW |
2 |
68,692,083 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8399:Cers6
|
UTSW |
2 |
68,692,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9256:Cers6
|
UTSW |
2 |
68,777,706 (GRCm39) |
splice site |
probably benign |
|
|
R9670:Cers6
|
UTSW |
2 |
68,833,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGAAATCCCAATTGTGCAGGAG -3'
(R):5'- GATGCTAACAAAGCTCACTTTGGACAC -3'
Sequencing Primer
(F):5'- tcacctgcctctgcctc -3'
(R):5'- CTTTGGACACACATTTGCATGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation