Incidental Mutation 'IGL02513:Cers6'
| ID |
296633 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cers6
|
| Ensembl Gene |
ENSMUSG00000027035 |
| Gene Name |
ceramide synthase 6 |
| Synonyms |
similar to TRH1, CerS6, T1L, Lass6, 4732462C07Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
IGL02513
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
68691785-68944626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68899013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 217
(F217S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135604
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028426]
[ENSMUST00000176018]
|
| AlphaFold |
Q8C172 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028426
AA Change: F217S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028426
Gene: ENSMUSG00000027035
AA Change: F217S
| 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: F217S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135604
Gene: ENSMUSG00000027035
AA Change: F217S
| 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 |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
G |
T |
12: 8,042,979 (GRCm39) |
V787F |
probably benign |
Het |
| Atg14 |
T |
C |
14: 47,786,451 (GRCm39) |
I268V |
probably benign |
Het |
| Atg14 |
T |
A |
14: 47,783,081 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
T |
9: 53,408,562 (GRCm39) |
|
probably benign |
Het |
| Ccdc9 |
A |
G |
7: 16,018,434 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
A |
C |
16: 3,944,469 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
T |
A |
8: 16,049,869 (GRCm39) |
|
probably benign |
Het |
| Dmac2l |
A |
T |
12: 69,787,819 (GRCm39) |
Y85F |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,496,571 (GRCm39) |
V609E |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,222,636 (GRCm39) |
S204P |
probably damaging |
Het |
| Gpr152 |
A |
G |
19: 4,192,843 (GRCm39) |
D128G |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,927,844 (GRCm39) |
V1013D |
possibly damaging |
Het |
| Kctd18 |
A |
G |
1: 58,004,559 (GRCm39) |
Y112H |
probably damaging |
Het |
| Kdm4d |
T |
A |
9: 14,375,850 (GRCm39) |
T3S |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 41,000,765 (GRCm39) |
|
probably null |
Het |
| Mex3c |
T |
A |
18: 73,723,360 (GRCm39) |
D484E |
possibly damaging |
Het |
| Nalf1 |
T |
A |
8: 9,257,930 (GRCm39) |
D406V |
probably benign |
Het |
| Nat14 |
T |
C |
7: 4,927,050 (GRCm39) |
V74A |
possibly damaging |
Het |
| Or2b6 |
A |
G |
13: 21,823,510 (GRCm39) |
F61S |
probably damaging |
Het |
| Pabpc2 |
C |
T |
18: 39,908,193 (GRCm39) |
T486I |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,260,289 (GRCm39) |
|
probably benign |
Het |
| Pkn3 |
T |
A |
2: 29,973,149 (GRCm39) |
I353N |
probably damaging |
Het |
| Rbm44 |
T |
A |
1: 91,083,260 (GRCm39) |
S594R |
possibly damaging |
Het |
| Rrbp1 |
C |
T |
2: 143,830,350 (GRCm39) |
A606T |
possibly damaging |
Het |
| Tcof1 |
A |
G |
18: 60,964,850 (GRCm39) |
V623A |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,577,123 (GRCm39) |
E1482G |
probably benign |
Het |
| Uba1 |
A |
G |
X: 20,541,885 (GRCm39) |
T546A |
probably benign |
Het |
| Vmn2r37 |
T |
C |
7: 9,220,934 (GRCm39) |
K310E |
probably benign |
Het |
| Zbtb38 |
A |
T |
9: 96,569,126 (GRCm39) |
W653R |
probably damaging |
Het |
| Zdhhc19 |
A |
T |
16: 32,318,440 (GRCm39) |
I99F |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,648,239 (GRCm39) |
Y974C |
probably damaging |
Het |
|
| Other mutations in Cers6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R1280:Cers6
|
UTSW |
2 |
68,899,033 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation