Incidental Mutation 'R7800:Cers5'
ID |
600498 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cers5
|
Ensembl Gene |
ENSMUSG00000023021 |
Gene Name |
ceramide synthase 5 |
Synonyms |
2310081H14Rik, CerS5, Lass5, Trh4 |
MMRRC Submission |
045855-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7800 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
99633473-99670396 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 99634122 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 409
(H409N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023762
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023762]
[ENSMUST00000109035]
[ENSMUST00000175876]
[ENSMUST00000176248]
|
AlphaFold |
Q9D6K9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023762
AA Change: H409N
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000023762 Gene: ENSMUSG00000023021 AA Change: H409N
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 |
probably benign
Transcript: ENSMUST00000175876
|
SMART Domains |
Protein: ENSMUSP00000134845 Gene: ENSMUSG00000023021
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: ENSMUST00000176970
|
SMART Domains |
Protein: ENSMUSP00000135723 Gene: ENSMUSG00000023021
Domain | Start | End | E-Value | Type |
TLC
|
1 |
153 |
3.49e-25 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
96% (47/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,078,698 (GRCm39) |
D1264G |
probably benign |
Het |
Ace |
T |
C |
11: 105,876,884 (GRCm39) |
F1122S |
probably damaging |
Het |
Actr10 |
T |
G |
12: 70,990,283 (GRCm39) |
Y112D |
probably benign |
Het |
Cacnb1 |
T |
G |
11: 97,900,121 (GRCm39) |
I346L |
possibly damaging |
Het |
Camsap2 |
T |
C |
1: 136,209,639 (GRCm39) |
T607A |
probably damaging |
Het |
Cby3 |
T |
C |
11: 50,250,175 (GRCm39) |
F32S |
probably damaging |
Het |
Ces1h |
A |
T |
8: 94,106,322 (GRCm39) |
L11H |
|
Het |
Clcnkb |
T |
C |
4: 141,141,833 (GRCm39) |
Y51C |
probably benign |
Het |
Cnnm2 |
A |
G |
19: 46,866,420 (GRCm39) |
E856G |
probably benign |
Het |
Cnot1 |
A |
G |
8: 96,491,690 (GRCm39) |
V378A |
probably benign |
Het |
Crisp4 |
A |
C |
1: 18,198,973 (GRCm39) |
S154A |
probably benign |
Het |
Disp1 |
C |
T |
1: 182,880,550 (GRCm39) |
R241Q |
probably benign |
Het |
Ermard |
G |
A |
17: 15,277,065 (GRCm39) |
R429H |
probably benign |
Het |
Extl1 |
C |
T |
4: 134,098,929 (GRCm39) |
G34D |
probably benign |
Het |
Gen1 |
T |
C |
12: 11,291,863 (GRCm39) |
D707G |
probably benign |
Het |
H1f3 |
C |
A |
13: 23,739,541 (GRCm39) |
T93N |
possibly damaging |
Het |
Igkv5-37 |
A |
C |
6: 69,940,499 (GRCm39) |
S48R |
possibly damaging |
Het |
Ilvbl |
C |
T |
10: 78,419,809 (GRCm39) |
A571V |
possibly damaging |
Het |
Itgb1 |
A |
G |
8: 129,439,718 (GRCm39) |
K136E |
possibly damaging |
Het |
Lhx8 |
A |
G |
3: 154,027,284 (GRCm39) |
F253L |
probably damaging |
Het |
Naa25 |
A |
G |
5: 121,562,594 (GRCm39) |
T459A |
possibly damaging |
Het |
Nr3c2 |
A |
G |
8: 77,636,621 (GRCm39) |
Y574C |
probably damaging |
Het |
Nrxn1 |
C |
T |
17: 91,396,635 (GRCm39) |
|
probably benign |
Het |
Ntrk3 |
T |
A |
7: 77,952,488 (GRCm39) |
R576S |
probably benign |
Het |
Nup210l |
A |
G |
3: 90,041,904 (GRCm39) |
Y403C |
probably damaging |
Het |
Or2ag12 |
A |
G |
7: 106,276,781 (GRCm39) |
V304A |
probably benign |
Het |
Or8b53 |
T |
G |
9: 38,667,914 (GRCm39) |
L310W |
probably damaging |
Het |
Otogl |
T |
A |
10: 107,722,376 (GRCm39) |
Y326F |
probably damaging |
Het |
Pcdha1 |
T |
A |
18: 37,064,426 (GRCm39) |
D363E |
probably damaging |
Het |
Pcdhb3 |
T |
A |
18: 37,434,974 (GRCm39) |
N313K |
probably benign |
Het |
Pcdhb9 |
A |
C |
18: 37,534,602 (GRCm39) |
S199R |
probably benign |
Het |
Pde4dip |
C |
T |
3: 97,622,599 (GRCm39) |
D1537N |
probably damaging |
Het |
Pinx1 |
A |
G |
14: 64,156,984 (GRCm39) |
K304E |
probably benign |
Het |
Pnlip |
T |
C |
19: 58,670,134 (GRCm39) |
V458A |
probably benign |
Het |
Polr3a |
C |
A |
14: 24,534,455 (GRCm39) |
M60I |
probably null |
Het |
Qrich2 |
G |
T |
11: 116,347,686 (GRCm39) |
S1046* |
probably null |
Het |
Rigi |
T |
C |
4: 40,211,618 (GRCm39) |
E650G |
probably benign |
Het |
Rps6ka5 |
G |
A |
12: 100,524,824 (GRCm39) |
P638S |
probably damaging |
Het |
Slc6a13 |
T |
A |
6: 121,298,658 (GRCm39) |
N158K |
probably damaging |
Het |
Sord |
T |
C |
2: 122,089,561 (GRCm39) |
V187A |
probably damaging |
Het |
Sult2a2 |
A |
G |
7: 13,468,710 (GRCm39) |
T59A |
probably benign |
Het |
Thbs2 |
T |
C |
17: 14,896,558 (GRCm39) |
D777G |
probably damaging |
Het |
Tmed9 |
A |
G |
13: 55,743,345 (GRCm39) |
D159G |
probably benign |
Het |
Trbc1 |
A |
G |
6: 41,516,195 (GRCm39) |
I142V |
|
Het |
Usp17ld |
A |
G |
7: 102,900,041 (GRCm39) |
V297A |
probably damaging |
Het |
Vmn1r167 |
A |
T |
7: 23,204,069 (GRCm39) |
*316R |
probably null |
Het |
Wdr59 |
C |
A |
8: 112,248,570 (GRCm39) |
R15L |
|
Het |
Zfp189 |
C |
T |
4: 49,529,367 (GRCm39) |
P157S |
possibly damaging |
Het |
Zfp407 |
C |
T |
18: 84,578,800 (GRCm39) |
G771D |
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 |
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'- AGAATTGTGCCCCAACCGAG -3'
(R):5'- ATGACCGCAGTGATGTAGAG -3'
Sequencing Primer
(F):5'- GTGCCCCAACCGAGTCAATG -3'
(R):5'- CAGTGATGTAGAGAGCAGCTC -3'
|
Posted On |
2019-11-26 |