Incidental Mutation 'IGL01559:Cers1'
| ID |
90792 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cers1
|
| Ensembl Gene |
ENSMUSG00000087408 |
| Gene Name |
ceramide synthase 1 |
| Synonyms |
Uog-1, to, CerS1, Lass1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
IGL01559
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70768425-70784238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70775883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 295
(N295S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000140239]
[ENSMUST00000165819]
|
| AlphaFold |
P20863
P27545 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136257
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140239
AA Change: N295S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120598
Gene: ENSMUSG00000087408
AA Change: N295S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
68 |
N/A |
INTRINSIC |
|
TLC
|
97 |
311 |
1.24e-57 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165819
|
| SMART Domains |
Protein: ENSMUSP00000128325
Gene: ENSMUSG00000087408
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
33 |
169 |
7e-16 |
PFAM |
|
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
|
TGFB
|
251 |
357 |
6.22e-56 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Mice lacking a functional copy of this gene exhibit impaired cerebellar development, locomotion and motor coordination. This protein is transcribed from a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for the spontaneous toppler mutation display reduced body and brain weight, a small cerebellum, progressive tremors, ataxia, impaired balance and seizures, as well as dramatic dendritic changes and severe loss of Purkinje cells, glial changes, and a shortened lifespan. [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 |
|---|
| Abca13 |
T |
A |
11: 9,259,020 (GRCm39) |
N2915K |
possibly damaging |
Het |
| Abca5 |
T |
C |
11: 110,163,352 (GRCm39) |
N1621S |
probably benign |
Het |
| Asb18 |
G |
A |
1: 89,882,172 (GRCm39) |
S122F |
probably damaging |
Het |
| Atg4c |
A |
G |
4: 99,106,440 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
T |
C |
3: 36,648,659 (GRCm39) |
Y363C |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,314,183 (GRCm39) |
T1281A |
possibly damaging |
Het |
| Csn1s2b |
A |
T |
5: 87,968,810 (GRCm39) |
K80* |
probably null |
Het |
| Dennd6a |
A |
G |
14: 26,329,720 (GRCm39) |
D97G |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,054,005 (GRCm39) |
Y2537C |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,001,235 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
A |
G |
6: 33,243,011 (GRCm39) |
T75A |
probably damaging |
Het |
| Fbll1 |
T |
C |
11: 35,688,372 (GRCm39) |
E297G |
probably damaging |
Het |
| Gm10642 |
T |
A |
9: 70,563,874 (GRCm39) |
D152V |
probably damaging |
Het |
| Hdac3 |
A |
G |
18: 38,076,725 (GRCm39) |
|
probably benign |
Het |
| Kif17 |
A |
G |
4: 138,021,080 (GRCm39) |
I850V |
probably damaging |
Het |
| Or2l13 |
T |
C |
16: 19,306,209 (GRCm39) |
L207P |
probably benign |
Het |
| Pi4kb |
T |
A |
3: 94,891,440 (GRCm39) |
L52Q |
probably benign |
Het |
| Sec14l1 |
C |
A |
11: 117,034,110 (GRCm39) |
|
probably null |
Het |
| Slc28a2 |
T |
A |
2: 122,285,021 (GRCm39) |
H336Q |
probably damaging |
Het |
| Usp17lb |
A |
G |
7: 104,490,436 (GRCm39) |
S164P |
probably damaging |
Het |
|
| Other mutations in Cers1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01982:Cers1
|
APN |
8 |
70,776,081 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02827:Cers1
|
APN |
8 |
70,774,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1025:Cers1
|
UTSW |
8 |
70,774,186 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1456:Cers1
|
UTSW |
8 |
70,783,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Cers1
|
UTSW |
8 |
70,775,819 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1467:Cers1
|
UTSW |
8 |
70,775,819 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1764:Cers1
|
UTSW |
8 |
70,774,141 (GRCm39) |
splice site |
probably null |
|
|
R2397:Cers1
|
UTSW |
8 |
70,774,186 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3107:Cers1
|
UTSW |
8 |
70,775,286 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3808:Cers1
|
UTSW |
8 |
70,782,660 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3809:Cers1
|
UTSW |
8 |
70,782,660 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4789:Cers1
|
UTSW |
8 |
70,776,018 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5450:Cers1
|
UTSW |
8 |
70,770,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5987:Cers1
|
UTSW |
8 |
70,774,228 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6274:Cers1
|
UTSW |
8 |
70,783,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6535:Cers1
|
UTSW |
8 |
70,782,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7060:Cers1
|
UTSW |
8 |
70,768,555 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7152:Cers1
|
UTSW |
8 |
70,770,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8338:Cers1
|
UTSW |
8 |
70,783,772 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8371:Cers1
|
UTSW |
8 |
70,782,223 (GRCm39) |
missense |
probably benign |
|
|
R8524:Cers1
|
UTSW |
8 |
70,783,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cers1
|
UTSW |
8 |
70,770,968 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Posted On |
2013-12-09 |
Incidental Mutation