Incidental Mutation 'R3010:Cers5'
| ID |
477391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cers5
|
| Ensembl Gene |
ENSMUSG00000023021 |
| Gene Name |
ceramide synthase 5 |
| Synonyms |
2310081H14Rik, CerS5, Lass5, Trh4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3010 (G1)
|
| Quality Score |
149 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99633473-99670396 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 99670598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023762]
[ENSMUST00000109035]
[ENSMUST00000175876]
[ENSMUST00000176248]
[ENSMUST00000176627]
|
| AlphaFold |
Q9D6K9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023762
|
| SMART Domains |
Protein: ENSMUSP00000023762
Gene: ENSMUSG00000023021
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
Blast:TLC
|
24 |
66 |
9e-17 |
BLAST |
|
HOX
|
78 |
140 |
5.6e-2 |
SMART |
|
TLC
|
139 |
340 |
4.35e-76 |
SMART |
|
low complexity region
|
343 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109035
|
| SMART Domains |
Protein: ENSMUSP00000104663
Gene: ENSMUSG00000023021
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
Blast:TLC
|
24 |
66 |
6e-17 |
BLAST |
|
HOX
|
78 |
140 |
5.6e-2 |
SMART |
|
TLC
|
139 |
340 |
4.35e-76 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168951
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000175876
AA Change: M3T
|
| SMART Domains |
Protein: ENSMUSP00000134845
Gene: ENSMUSG00000023021
AA Change: M3T
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
29 |
91 |
5.6e-2 |
SMART |
|
TLC
|
90 |
241 |
1.29e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176248
|
| SMART Domains |
Protein: ENSMUSP00000135074
Gene: ENSMUSG00000023021
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
Blast:TLC
|
24 |
66 |
9e-18 |
BLAST |
|
HOX
|
78 |
140 |
2.8e-4 |
SMART |
|
TLC
|
139 |
251 |
1.7e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176627
|
| SMART Domains |
Protein: ENSMUSP00000134988
Gene: ENSMUSG00000023021
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
27 |
89 |
5.6e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
T |
C |
9: 99,369,966 (GRCm39) |
E591G |
probably benign |
Het |
| Cgrrf1 |
T |
C |
14: 47,091,223 (GRCm39) |
V249A |
probably benign |
Het |
| Kctd1 |
T |
C |
18: 15,107,143 (GRCm39) |
E178G |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
| Mx2 |
T |
C |
16: 97,347,999 (GRCm39) |
V208A |
possibly damaging |
Het |
| Pacs2 |
T |
C |
12: 113,024,700 (GRCm39) |
S427P |
probably benign |
Het |
| Pdzrn4 |
A |
G |
15: 92,667,692 (GRCm39) |
I615V |
probably benign |
Het |
| Ptpn1 |
C |
A |
2: 167,816,742 (GRCm39) |
Q266K |
probably damaging |
Het |
| Snx18 |
G |
A |
13: 113,753,422 (GRCm39) |
Q504* |
probably null |
Het |
| Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
| Tbx15 |
A |
G |
3: 99,161,209 (GRCm39) |
|
probably benign |
Het |
| Tdrd6 |
G |
A |
17: 43,938,933 (GRCm39) |
T705I |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Vmn2r113 |
T |
C |
17: 23,177,105 (GRCm39) |
S630P |
probably damaging |
Het |
| Zdbf2 |
T |
A |
1: 63,342,224 (GRCm39) |
V201D |
possibly damaging |
Het |
| Zer1 |
A |
G |
2: 30,003,297 (GRCm39) |
I40T |
probably benign |
Het |
|
| Other mutations in Cers5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01290:Cers5
|
APN |
15 |
99,637,536 (GRCm39) |
nonsense |
probably null |
|
|
coleman
|
UTSW |
15 |
99,649,119 (GRCm39) |
nonsense |
probably null |
|
|
R0178:Cers5
|
UTSW |
15 |
99,644,905 (GRCm39) |
splice site |
probably benign |
|
|
R0483:Cers5
|
UTSW |
15 |
99,643,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0589:Cers5
|
UTSW |
15 |
99,638,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1433:Cers5
|
UTSW |
15 |
99,643,812 (GRCm39) |
nonsense |
probably null |
|
|
R1757:Cers5
|
UTSW |
15 |
99,634,212 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2520:Cers5
|
UTSW |
15 |
99,634,262 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3008:Cers5
|
UTSW |
15 |
99,670,598 (GRCm39) |
unclassified |
probably benign |
|
|
R3011:Cers5
|
UTSW |
15 |
99,670,598 (GRCm39) |
unclassified |
probably benign |
|
|
R4379:Cers5
|
UTSW |
15 |
99,649,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Cers5
|
UTSW |
15 |
99,639,518 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4733:Cers5
|
UTSW |
15 |
99,639,518 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4911:Cers5
|
UTSW |
15 |
99,644,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5441:Cers5
|
UTSW |
15 |
99,649,119 (GRCm39) |
nonsense |
probably null |
|
|
R6089:Cers5
|
UTSW |
15 |
99,638,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6161:Cers5
|
UTSW |
15 |
99,636,544 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6247:Cers5
|
UTSW |
15 |
99,643,805 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6300:Cers5
|
UTSW |
15 |
99,670,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6312:Cers5
|
UTSW |
15 |
99,644,996 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6861:Cers5
|
UTSW |
15 |
99,670,244 (GRCm39) |
unclassified |
probably benign |
|
|
R7780:Cers5
|
UTSW |
15 |
99,637,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7800:Cers5
|
UTSW |
15 |
99,634,122 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7843:Cers5
|
UTSW |
15 |
99,670,212 (GRCm39) |
missense |
unknown |
|
|
R7995:Cers5
|
UTSW |
15 |
99,638,823 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8491:Cers5
|
UTSW |
15 |
99,638,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8789:Cers5
|
UTSW |
15 |
99,637,551 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9325:Cers5
|
UTSW |
15 |
99,637,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
|
| Posted On |
2017-05-15 |
Incidental Mutation