Incidental Mutation 'R8491:Cers5'
| ID |
658017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cers5
|
| Ensembl Gene |
ENSMUSG00000023021 |
| Gene Name |
ceramide synthase 5 |
| Synonyms |
2310081H14Rik, CerS5, Lass5, Trh4 |
| MMRRC Submission |
067933-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8491 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99633473-99670396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 99638831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 161
(K161N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023762]
[ENSMUST00000109035]
[ENSMUST00000175876]
[ENSMUST00000176248]
[ENSMUST00000176627]
|
| AlphaFold |
Q9D6K9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023762
AA Change: K210N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023762
Gene: ENSMUSG00000023021
AA Change: K210N
| 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: K210N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104663
Gene: ENSMUSG00000023021
AA Change: K210N
| 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: K161N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134845
Gene: ENSMUSG00000023021
AA Change: K161N
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000135723
Gene: ENSMUSG00000023021
AA Change: K76N
| Domain | Start | End | E-Value | Type |
|---|
|
TLC
|
1 |
153 |
3.49e-25 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aard |
A |
T |
15: 51,903,708 (GRCm39) |
I44F |
unknown |
Het |
| Agap1 |
A |
G |
1: 89,537,294 (GRCm39) |
E100G |
probably damaging |
Het |
| Aoc3 |
G |
T |
11: 101,223,042 (GRCm39) |
R426L |
probably benign |
Het |
| Aspm |
T |
G |
1: 139,385,433 (GRCm39) |
L359R |
probably damaging |
Het |
| Atp8b2 |
A |
G |
3: 89,865,676 (GRCm39) |
S75P |
probably damaging |
Het |
| Bcl9l |
A |
G |
9: 44,412,065 (GRCm39) |
E17G |
probably benign |
Het |
| Casc3 |
G |
T |
11: 98,713,977 (GRCm39) |
R403L |
probably benign |
Het |
| Cdh16 |
T |
C |
8: 105,343,681 (GRCm39) |
D605G |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,757,775 (GRCm39) |
|
probably null |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cntnap3 |
A |
T |
13: 64,933,157 (GRCm39) |
D454E |
probably damaging |
Het |
| Cxcl15 |
T |
A |
5: 90,943,089 (GRCm39) |
C30* |
probably null |
Het |
| Cyp4a12a |
C |
A |
4: 115,158,650 (GRCm39) |
|
probably null |
Het |
| Dlc1 |
A |
T |
8: 37,052,000 (GRCm39) |
I577N |
probably benign |
Het |
| Dusp6 |
C |
A |
10: 99,102,081 (GRCm39) |
R210S |
possibly damaging |
Het |
| Faxc |
T |
A |
4: 21,993,319 (GRCm39) |
M321K |
probably damaging |
Het |
| Fez2 |
C |
A |
17: 78,692,200 (GRCm39) |
V340L |
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gdnf |
A |
G |
15: 7,864,272 (GRCm39) |
I228V |
possibly damaging |
Het |
| Gm12258 |
A |
G |
11: 58,745,122 (GRCm39) |
T18A |
|
Het |
| Gm5460 |
T |
C |
14: 33,761,740 (GRCm39) |
L194P |
probably damaging |
Het |
| Gm6040 |
T |
G |
8: 21,407,135 (GRCm39) |
R28S |
possibly damaging |
Het |
| Gmps |
A |
G |
3: 63,921,779 (GRCm39) |
E594G |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,281,030 (GRCm39) |
V3334A |
probably benign |
Het |
| Idh3a |
T |
C |
9: 54,506,963 (GRCm39) |
|
probably null |
Het |
| Ins1 |
A |
G |
19: 52,252,808 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,859,688 (GRCm39) |
D1229V |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,196,384 (GRCm39) |
D347G |
probably damaging |
Het |
| Or52d3 |
G |
A |
7: 104,229,242 (GRCm39) |
V130I |
probably damaging |
Het |
| Or8k25 |
A |
G |
2: 86,244,099 (GRCm39) |
I99T |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,565,244 (GRCm39) |
N3K |
unknown |
Het |
| Pigl |
A |
G |
11: 62,364,293 (GRCm39) |
R112G |
probably null |
Het |
| Prkcq |
T |
C |
2: 11,284,335 (GRCm39) |
Y502H |
probably damaging |
Het |
| Psg16 |
T |
C |
7: 16,824,437 (GRCm39) |
Y74H |
probably damaging |
Het |
| Psme4 |
G |
A |
11: 30,722,161 (GRCm39) |
G60D |
possibly damaging |
Het |
| Rpp14 |
A |
T |
14: 8,083,925 (GRCm38) |
Q27L |
possibly damaging |
Het |
| Serpini2 |
A |
C |
3: 75,159,822 (GRCm39) |
C315G |
probably damaging |
Het |
| Slitrk3 |
A |
G |
3: 72,958,592 (GRCm39) |
I60T |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,106,678 (GRCm39) |
Y1436H |
probably damaging |
Het |
| Tmem245 |
T |
C |
4: 56,906,261 (GRCm39) |
Q548R |
probably benign |
Het |
| Tob1 |
A |
G |
11: 94,105,115 (GRCm39) |
D217G |
probably benign |
Het |
| Trim21 |
A |
C |
7: 102,208,689 (GRCm39) |
D343E |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
| Trmt13 |
T |
C |
3: 116,376,228 (GRCm39) |
R388G |
probably benign |
Het |
| Ubqlnl |
A |
G |
7: 103,798,582 (GRCm39) |
V305A |
probably benign |
Het |
| Ushbp1 |
A |
G |
8: 71,845,041 (GRCm39) |
V244A |
probably benign |
Het |
| Vdac2 |
T |
A |
14: 21,887,838 (GRCm39) |
N60K |
possibly damaging |
Het |
| Vwa5a |
A |
G |
9: 38,652,476 (GRCm39) |
E753G |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,411,987 (GRCm39) |
D706G |
probably benign |
Het |
| Zbtb5 |
T |
C |
4: 44,995,090 (GRCm39) |
D98G |
probably damaging |
Het |
| Zfp53 |
A |
G |
17: 21,729,621 (GRCm39) |
I551M |
probably benign |
Het |
| Zfp958 |
G |
T |
8: 4,676,215 (GRCm39) |
R61I |
probably damaging |
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 |
|
|
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 |
|
|
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'- CAGAGCATGCGCATGTACTG -3'
(R):5'- ACCTCATCTCTAAGCTGAGAGC -3'
Sequencing Primer
(F):5'- ATGTACTGCCTGGGCGCTC -3'
(R):5'- CTGCAAAGGGCTGATGTCTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation