Incidental Mutation 'R0589:Cers5'
| ID |
55898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cers5
|
| Ensembl Gene |
ENSMUSG00000023021 |
| Gene Name |
ceramide synthase 5 |
| Synonyms |
2310081H14Rik, CerS5, Lass5, Trh4 |
| MMRRC Submission |
038779-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0589 (G1)
|
| Quality Score |
155 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99633473-99670396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99638837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 208
(D208E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023762]
[ENSMUST00000109035]
[ENSMUST00000175876]
[ENSMUST00000176248]
[ENSMUST00000176627]
|
| AlphaFold |
Q9D6K9 |
| PDB Structure |
Solution structure of RSGI RUH-034, a homeodomain from mouse cDNA [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023762
AA Change: D208E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023762
Gene: ENSMUSG00000023021
AA Change: D208E
| 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 damaging
Transcript: ENSMUST00000109035
AA Change: D208E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104663
Gene: ENSMUSG00000023021
AA Change: D208E
| 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 damaging
Transcript: ENSMUST00000175876
AA Change: D159E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134845
Gene: ENSMUSG00000023021
AA Change: D159E
| 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 |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176970
AA Change: D74E
|
| SMART Domains |
Protein: ENSMUSP00000135723
Gene: ENSMUSG00000023021
AA Change: D74E
| Domain | Start | End | E-Value | Type |
|---|
|
TLC
|
1 |
153 |
3.49e-25 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
T |
11: 109,833,094 (GRCm39) |
A1202E |
probably damaging |
Het |
| Abcc12 |
A |
T |
8: 87,287,101 (GRCm39) |
I155N |
possibly damaging |
Het |
| Atf4 |
T |
A |
15: 80,140,640 (GRCm39) |
H47Q |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,401,492 (GRCm39) |
D1459V |
possibly damaging |
Het |
| Bicral |
A |
G |
17: 47,112,522 (GRCm39) |
S893P |
probably benign |
Het |
| Camk2a |
G |
A |
18: 61,097,036 (GRCm39) |
|
probably null |
Het |
| Cebpz |
G |
A |
17: 79,244,308 (GRCm39) |
T51I |
probably damaging |
Het |
| Cimip2b |
T |
C |
4: 43,427,355 (GRCm39) |
|
probably benign |
Het |
| Cyp1a2 |
T |
C |
9: 57,586,345 (GRCm39) |
D391G |
possibly damaging |
Het |
| Dct |
G |
T |
14: 118,280,682 (GRCm39) |
F111L |
probably benign |
Het |
| Ddb1 |
T |
G |
19: 10,599,080 (GRCm39) |
I529S |
probably benign |
Het |
| Dhx9 |
G |
T |
1: 153,348,037 (GRCm39) |
Q361K |
probably damaging |
Het |
| Dnai3 |
A |
G |
3: 145,768,086 (GRCm39) |
S592P |
probably benign |
Het |
| Erbin |
G |
T |
13: 104,022,795 (GRCm39) |
R15S |
probably damaging |
Het |
| F13b |
T |
C |
1: 139,434,671 (GRCm39) |
S146P |
possibly damaging |
Het |
| Ggnbp2 |
A |
T |
11: 84,727,277 (GRCm39) |
C520S |
probably damaging |
Het |
| Gpx3 |
A |
G |
11: 54,800,329 (GRCm39) |
I208V |
probably benign |
Het |
| Grk3 |
A |
G |
5: 113,076,629 (GRCm39) |
|
probably benign |
Het |
| Heatr9 |
T |
C |
11: 83,405,516 (GRCm39) |
|
probably benign |
Het |
| Heg1 |
T |
G |
16: 33,552,077 (GRCm39) |
I762R |
probably damaging |
Het |
| Ints11 |
A |
T |
4: 155,971,343 (GRCm39) |
T264S |
probably damaging |
Het |
| Ints14 |
T |
C |
9: 64,887,113 (GRCm39) |
L348P |
probably damaging |
Het |
| Maco1 |
C |
A |
4: 134,555,528 (GRCm39) |
C315F |
probably benign |
Het |
| Marf1 |
C |
A |
16: 13,959,919 (GRCm39) |
|
probably benign |
Het |
| Med13 |
A |
G |
11: 86,174,075 (GRCm39) |
Y1808H |
probably damaging |
Het |
| Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
| Mrpl45 |
A |
T |
11: 97,214,714 (GRCm39) |
T134S |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,189,453 (GRCm39) |
I1210V |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,131,303 (GRCm39) |
S223P |
probably damaging |
Het |
| Or2j6 |
T |
G |
7: 139,980,813 (GRCm39) |
S49R |
possibly damaging |
Het |
| Or4c115 |
A |
G |
2: 88,927,606 (GRCm39) |
F222L |
probably benign |
Het |
| Or5be3 |
A |
T |
2: 86,864,459 (GRCm39) |
Y35* |
probably null |
Het |
| P3h3 |
T |
A |
6: 124,818,644 (GRCm39) |
E731D |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,279,527 (GRCm39) |
R836G |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,376,385 (GRCm39) |
V1250A |
probably benign |
Het |
| Pgbd1 |
G |
A |
13: 21,618,600 (GRCm39) |
T19I |
possibly damaging |
Het |
| Phtf2 |
T |
A |
5: 21,018,249 (GRCm39) |
R31* |
probably null |
Het |
| Plod2 |
T |
A |
9: 92,475,799 (GRCm39) |
V294D |
probably benign |
Het |
| Rassf5 |
C |
T |
1: 131,172,720 (GRCm39) |
G50R |
probably damaging |
Het |
| Rexo5 |
A |
G |
7: 119,444,606 (GRCm39) |
T694A |
probably benign |
Het |
| Rtcb |
A |
C |
10: 85,787,315 (GRCm39) |
S82A |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,172,042 (GRCm39) |
L255P |
probably damaging |
Het |
| Slc35c1 |
A |
G |
2: 92,284,859 (GRCm39) |
F252L |
probably damaging |
Het |
| Slco6d1 |
A |
T |
1: 98,427,472 (GRCm39) |
|
probably benign |
Het |
| Sox10 |
T |
G |
15: 79,047,485 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,529,028 (GRCm39) |
M1762V |
probably benign |
Het |
| Stat3 |
A |
T |
11: 100,798,909 (GRCm39) |
Y94N |
probably damaging |
Het |
| Tasor |
T |
C |
14: 27,183,107 (GRCm39) |
I522T |
probably benign |
Het |
| Tecta |
T |
A |
9: 42,256,930 (GRCm39) |
Y1582F |
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,355,453 (GRCm39) |
D454G |
probably damaging |
Het |
| Tle6 |
A |
G |
10: 81,431,253 (GRCm39) |
|
probably benign |
Het |
| Tmod2 |
T |
C |
9: 75,484,041 (GRCm39) |
E303G |
probably damaging |
Het |
| Trem1 |
A |
G |
17: 48,544,245 (GRCm39) |
D90G |
possibly damaging |
Het |
| Trhde |
A |
T |
10: 114,284,229 (GRCm39) |
D751E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,795,589 (GRCm39) |
|
probably null |
Het |
| Vars2 |
T |
C |
17: 35,970,068 (GRCm39) |
T774A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACTGTGGAAAGTCAGCTCACTC -3'
(R):5'- AATTGCAGACGCAGCGATCAGG -3'
Sequencing Primer
(F):5'- GAAAGTCAGCTCACTCGTTTG -3'
(R):5'- CTCATCTCTAAGCTGAGAGCAGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation