Incidental Mutation 'R4379:Cers5'
| ID |
325263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cers5
|
| Ensembl Gene |
ENSMUSG00000023021 |
| Gene Name |
ceramide synthase 5 |
| Synonyms |
2310081H14Rik, CerS5, Lass5, Trh4 |
| MMRRC Submission |
041677-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4379 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99633473-99670396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99649134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 45
(F45L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023762]
[ENSMUST00000109035]
[ENSMUST00000175876]
[ENSMUST00000176248]
[ENSMUST00000176627]
|
| AlphaFold |
Q9D6K9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023762
AA Change: F96L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023762
Gene: ENSMUSG00000023021
AA Change: F96L
| 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: F96L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104663
Gene: ENSMUSG00000023021
AA Change: F96L
| 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 |
possibly damaging
Transcript: ENSMUST00000175876
AA Change: F47L
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134845
Gene: ENSMUSG00000023021
AA Change: F47L
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
29 |
91 |
5.6e-2 |
SMART |
|
TLC
|
90 |
241 |
1.29e-37 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176248
AA Change: F96L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135074
Gene: ENSMUSG00000023021
AA Change: F96L
| 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 damaging
Transcript: ENSMUST00000176627
AA Change: F45L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134988
Gene: ENSMUSG00000023021
AA Change: F45L
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
27 |
89 |
5.6e-2 |
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 |
|
| Meta Mutation Damage Score |
0.9536 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
95% (53/56) |
| 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 |
|---|
| Abcb1b |
C |
A |
5: 8,915,875 (GRCm39) |
H1252Q |
probably benign |
Het |
| Adcy3 |
T |
C |
12: 4,184,558 (GRCm39) |
L78P |
probably damaging |
Het |
| Agmat |
G |
T |
4: 141,484,802 (GRCm39) |
A282S |
probably benign |
Het |
| Akap8 |
G |
T |
17: 32,525,534 (GRCm39) |
T515K |
probably damaging |
Het |
| Akap8l |
T |
C |
17: 32,540,488 (GRCm39) |
|
probably benign |
Het |
| Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
| AW209491 |
T |
C |
13: 14,812,412 (GRCm39) |
*422Q |
probably null |
Het |
| Cdan1 |
A |
G |
2: 120,557,099 (GRCm39) |
F576L |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,267,056 (GRCm39) |
I5011V |
probably benign |
Het |
| Dst |
T |
C |
1: 34,202,316 (GRCm39) |
S215P |
probably damaging |
Het |
| En1 |
A |
G |
1: 120,531,084 (GRCm39) |
N108S |
possibly damaging |
Het |
| Entrep3 |
A |
T |
3: 89,093,064 (GRCm39) |
D274V |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,538,677 (GRCm39) |
S591P |
probably benign |
Het |
| Glt1d1 |
T |
C |
5: 127,771,346 (GRCm39) |
V279A |
possibly damaging |
Het |
| Gm10051 |
C |
T |
5: 133,504,287 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
G |
T |
2: 21,830,025 (GRCm39) |
G690V |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Grm7 |
T |
A |
6: 111,223,335 (GRCm39) |
N458K |
probably benign |
Het |
| Hibadh |
G |
A |
6: 52,597,027 (GRCm39) |
S139L |
probably damaging |
Het |
| Hivep1 |
C |
T |
13: 42,308,906 (GRCm39) |
S382F |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,568,171 (GRCm39) |
N403D |
probably benign |
Het |
| Igkv4-81 |
A |
G |
6: 68,967,933 (GRCm39) |
L56S |
probably damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lmbr1l |
G |
T |
15: 98,807,144 (GRCm39) |
C212* |
probably null |
Het |
| Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
| Lrrc34 |
A |
G |
3: 30,685,524 (GRCm39) |
L275P |
probably damaging |
Het |
| Mgam2-ps |
T |
C |
6: 40,810,793 (GRCm39) |
|
noncoding transcript |
Het |
| Mief1 |
T |
G |
15: 80,132,160 (GRCm39) |
M77R |
possibly damaging |
Het |
| Neurod6 |
T |
C |
6: 55,656,257 (GRCm39) |
T127A |
probably damaging |
Het |
| Nif3l1 |
A |
C |
1: 58,494,738 (GRCm39) |
|
probably benign |
Het |
| Nlrp12 |
T |
A |
7: 3,288,554 (GRCm39) |
T653S |
probably benign |
Het |
| Nol7 |
G |
T |
13: 43,555,051 (GRCm39) |
W228L |
probably damaging |
Het |
| Nrp1 |
G |
A |
8: 129,194,948 (GRCm39) |
R468H |
probably damaging |
Het |
| Or5ac15 |
C |
T |
16: 58,940,027 (GRCm39) |
M135I |
probably benign |
Het |
| Or7g34 |
A |
G |
9: 19,478,038 (GRCm39) |
L211P |
probably benign |
Het |
| Pbrm1 |
A |
T |
14: 30,789,663 (GRCm39) |
H785L |
probably damaging |
Het |
| Pus7 |
T |
C |
5: 23,953,864 (GRCm39) |
|
probably benign |
Het |
| Qser1 |
G |
T |
2: 104,596,404 (GRCm39) |
|
probably null |
Het |
| Rrm1 |
T |
C |
7: 102,095,800 (GRCm39) |
V51A |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 79,129,896 (GRCm39) |
N112S |
probably damaging |
Het |
| Svil |
C |
T |
18: 5,046,909 (GRCm39) |
H52Y |
probably damaging |
Het |
| Taf1d |
T |
A |
9: 15,223,277 (GRCm39) |
|
probably benign |
Het |
| Tle1 |
ACAGGTTTCTTCAGGTTTCTT |
ACAGGTTTCTT |
4: 72,036,400 (GRCm39) |
|
probably benign |
Het |
| Treml1 |
A |
G |
17: 48,667,424 (GRCm39) |
Y103C |
probably damaging |
Het |
| Trim28 |
A |
T |
7: 12,763,407 (GRCm39) |
D516V |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,334,499 (GRCm39) |
N1164K |
possibly damaging |
Het |
| Vmn2r115 |
A |
G |
17: 23,564,197 (GRCm39) |
Y123C |
possibly damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zfp28 |
C |
T |
7: 6,396,441 (GRCm39) |
T292I |
probably benign |
Het |
| Zmynd8 |
A |
T |
2: 165,649,858 (GRCm39) |
|
probably null |
Het |
| Zscan4d |
A |
G |
7: 10,898,905 (GRCm39) |
V124A |
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 |
|
|
R3010:Cers5
|
UTSW |
15 |
99,670,598 (GRCm39) |
unclassified |
probably benign |
|
|
R3011:Cers5
|
UTSW |
15 |
99,670,598 (GRCm39) |
unclassified |
probably benign |
|
|
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'- CCATGTGCCGCACCTATTAGTG -3'
(R):5'- AAATAACGGGTTTCTGGTTCCTAG -3'
Sequencing Primer
(F):5'- AGTGCTACTCTCCATTAGTCCATTAG -3'
(R):5'- AACGGGTTTCTGGTTCCTAGTCTTG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation