Incidental Mutation 'IGL01290:Cers5'
| ID |
72891 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01290
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
99633473-99670396 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 99637536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 190
(R190*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023762]
[ENSMUST00000109035]
[ENSMUST00000175876]
[ENSMUST00000176248]
|
| AlphaFold |
Q9D6K9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023762
AA Change: R238*
|
| SMART Domains |
Protein: ENSMUSP00000023762
Gene: ENSMUSG00000023021
AA Change: R238*
| 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 null
Transcript: ENSMUST00000109035
AA Change: R238*
|
| SMART Domains |
Protein: ENSMUSP00000104663
Gene: ENSMUSG00000023021
AA Change: R238*
| 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 |
probably null
Transcript: ENSMUST00000175876
AA Change: R189*
|
| SMART Domains |
Protein: ENSMUSP00000134845
Gene: ENSMUSG00000023021
AA Change: R189*
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
29 |
91 |
5.6e-2 |
SMART |
|
TLC
|
90 |
241 |
1.29e-37 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176248
AA Change: R190*
|
| SMART Domains |
Protein: ENSMUSP00000135074
Gene: ENSMUSG00000023021
AA Change: R190*
| 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: ENSMUST00000176970
|
| SMART Domains |
Protein: ENSMUSP00000135723
Gene: ENSMUSG00000023021
| Domain | Start | End | E-Value | Type |
|---|
|
TLC
|
1 |
153 |
3.49e-25 |
SMART |
|
| Coding Region Coverage |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
A |
G |
11: 83,331,621 (GRCm39) |
H148R |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,206,232 (GRCm39) |
H177Q |
probably damaging |
Het |
| Adamts18 |
T |
A |
8: 114,501,575 (GRCm39) |
E349D |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 45,992,399 (GRCm39) |
T442I |
probably benign |
Het |
| Col14a1 |
C |
T |
15: 55,286,903 (GRCm39) |
A908V |
unknown |
Het |
| Ctnna2 |
T |
C |
6: 76,859,543 (GRCm39) |
D951G |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,835,599 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,782,998 (GRCm39) |
T106A |
possibly damaging |
Het |
| Fscn3 |
T |
C |
6: 28,430,505 (GRCm39) |
V225A |
probably benign |
Het |
| Ftmt |
A |
G |
18: 52,465,185 (GRCm39) |
N167S |
probably damaging |
Het |
| Gnal |
A |
G |
18: 67,344,169 (GRCm39) |
D181G |
probably damaging |
Het |
| Gxylt2 |
A |
G |
6: 100,727,408 (GRCm39) |
Y174C |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,809,844 (GRCm39) |
D445N |
probably damaging |
Het |
| Hoxb8 |
A |
G |
11: 96,175,093 (GRCm39) |
I176V |
possibly damaging |
Het |
| Itgbl1 |
A |
T |
14: 124,204,137 (GRCm39) |
E285D |
probably benign |
Het |
| Megf8 |
C |
T |
7: 25,049,083 (GRCm39) |
R1727* |
probably null |
Het |
| Nrap |
T |
C |
19: 56,350,180 (GRCm39) |
D611G |
probably damaging |
Het |
| Nudt19 |
A |
G |
7: 35,247,501 (GRCm39) |
S303P |
probably damaging |
Het |
| Rhcg |
A |
G |
7: 79,248,342 (GRCm39) |
F421L |
probably benign |
Het |
| Ripk2 |
T |
C |
4: 16,139,198 (GRCm39) |
|
probably benign |
Het |
| Rnf139 |
A |
G |
15: 58,770,175 (GRCm39) |
I67V |
probably benign |
Het |
| Smarca5 |
A |
G |
8: 81,454,277 (GRCm39) |
S256P |
probably benign |
Het |
| Sun3 |
C |
T |
11: 8,973,341 (GRCm39) |
G119S |
possibly damaging |
Het |
| Tlr12 |
A |
C |
4: 128,511,630 (GRCm39) |
S207A |
probably damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,016,701 (GRCm39) |
|
probably benign |
Het |
| Zdhhc16 |
T |
A |
19: 41,926,487 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cers5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R3010: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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation