Incidental Mutation 'R6675:Cers3'
| ID |
527247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cers3
|
| Ensembl Gene |
ENSMUSG00000030510 |
| Gene Name |
ceramide synthase 3 |
| Synonyms |
T3L, related to TRH3, Lass3, CerS3, 4930550L11Rik, LOC233330 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.272)
|
| Stock # |
R6675 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
66393252-66473439 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66435844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 232
(T232S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146745
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066475]
[ENSMUST00000208521]
|
| AlphaFold |
Q1A3B0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066475
AA Change: T268S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000069238
Gene: ENSMUSG00000030510
AA Change: T268S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
HOX
|
110 |
167 |
2.48e-2 |
SMART |
|
TLC
|
166 |
367 |
6.52e-57 |
SMART |
|
low complexity region
|
379 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208521
AA Change: T232S
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a lethal skin barrier disruption defect due to a lack of ultra-long-chain acyl ceramides, impaired stratum corneum desquamation, accelerated lamellar body biogenesis and extrusion, and delayed keratinocyte cornification. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,006,302 (GRCm39) |
T1268A |
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,229,197 (GRCm39) |
|
probably null |
Het |
| Arhgap45 |
G |
T |
10: 79,853,938 (GRCm39) |
D151Y |
probably null |
Het |
| Arhgef40 |
C |
A |
14: 52,229,098 (GRCm39) |
L592I |
probably damaging |
Het |
| Ascc3 |
G |
T |
10: 50,626,659 (GRCm39) |
E1720* |
probably null |
Het |
| Atp2c1 |
C |
T |
9: 105,330,732 (GRCm39) |
|
probably null |
Het |
| Avpi1 |
G |
A |
19: 42,112,183 (GRCm39) |
P125L |
probably benign |
Het |
| Cfap53 |
T |
C |
18: 74,440,447 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
T |
C |
1: 82,646,646 (GRCm39) |
S386P |
unknown |
Het |
| Dhtkd1 |
A |
T |
2: 5,908,889 (GRCm39) |
M735K |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Gad2 |
T |
C |
2: 22,563,997 (GRCm39) |
V400A |
possibly damaging |
Het |
| Gm10801 |
TC |
TCGCC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Hmgxb3 |
T |
G |
18: 61,270,648 (GRCm39) |
D892A |
possibly damaging |
Het |
| Hsd3b2 |
G |
A |
3: 98,620,788 (GRCm39) |
T89I |
probably benign |
Het |
| Iars1 |
C |
A |
13: 49,873,054 (GRCm39) |
A713D |
probably damaging |
Het |
| Itih1 |
G |
A |
14: 30,651,798 (GRCm39) |
T848I |
possibly damaging |
Het |
| Kcne2 |
A |
G |
16: 92,093,512 (GRCm39) |
D13G |
probably benign |
Het |
| Klra17 |
T |
A |
6: 129,849,286 (GRCm39) |
N96I |
probably damaging |
Het |
| Lrig2 |
T |
C |
3: 104,365,251 (GRCm39) |
N634D |
probably benign |
Het |
| Mrc2 |
T |
A |
11: 105,233,906 (GRCm39) |
|
probably null |
Het |
| Mroh3 |
A |
T |
1: 136,118,550 (GRCm39) |
S558T |
possibly damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,398,281 (GRCm39) |
K627N |
possibly damaging |
Het |
| Ncstn |
A |
T |
1: 171,899,095 (GRCm39) |
D345E |
probably damaging |
Het |
| Nkx1-1 |
G |
T |
5: 33,591,223 (GRCm39) |
A33E |
unknown |
Het |
| Or2n1 |
T |
A |
17: 38,486,905 (GRCm39) |
M310K |
probably benign |
Het |
| Or51f2 |
A |
G |
7: 102,526,480 (GRCm39) |
E51G |
possibly damaging |
Het |
| Osbpl9 |
G |
T |
4: 108,991,025 (GRCm39) |
|
probably null |
Het |
| P2rx6 |
T |
C |
16: 17,380,032 (GRCm39) |
V52A |
probably benign |
Het |
| Pcdhgb5 |
C |
T |
18: 37,864,255 (GRCm39) |
L17F |
probably damaging |
Het |
| Pdk2 |
T |
C |
11: 94,919,568 (GRCm39) |
I273V |
probably benign |
Het |
| Pdpr |
C |
T |
8: 111,828,532 (GRCm39) |
Q12* |
probably null |
Het |
| Plxdc2 |
A |
G |
2: 16,716,932 (GRCm39) |
T339A |
probably benign |
Het |
| Pramel27 |
G |
A |
4: 143,579,828 (GRCm39) |
C471Y |
probably damaging |
Het |
| Retsat |
T |
C |
6: 72,578,672 (GRCm39) |
V128A |
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,697,432 (GRCm39) |
E442G |
probably damaging |
Het |
| Sec31b |
T |
C |
19: 44,512,214 (GRCm39) |
N560S |
probably benign |
Het |
| Slc22a16 |
C |
T |
10: 40,449,836 (GRCm39) |
Q91* |
probably null |
Het |
| Slc24a5 |
G |
T |
2: 124,922,615 (GRCm39) |
A126S |
possibly damaging |
Het |
| Slc26a4 |
A |
T |
12: 31,590,512 (GRCm39) |
D380E |
possibly damaging |
Het |
| Stc2 |
T |
A |
11: 31,310,307 (GRCm39) |
D243V |
probably benign |
Het |
| Tshz2 |
G |
T |
2: 169,727,965 (GRCm39) |
A385S |
probably damaging |
Het |
| Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
| Vmn1r77 |
A |
G |
7: 11,775,382 (GRCm39) |
T53A |
probably damaging |
Het |
| Zeb2 |
A |
T |
2: 44,887,457 (GRCm39) |
Y518* |
probably null |
Het |
| Zfp760 |
T |
A |
17: 21,941,991 (GRCm39) |
S389T |
possibly damaging |
Het |
|
| Other mutations in Cers3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01321:Cers3
|
APN |
7 |
66,435,751 (GRCm39) |
splice site |
probably benign |
|
|
IGL02832:Cers3
|
APN |
7 |
66,431,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0400:Cers3
|
UTSW |
7 |
66,414,078 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0490:Cers3
|
UTSW |
7 |
66,423,438 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0558:Cers3
|
UTSW |
7 |
66,433,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0571:Cers3
|
UTSW |
7 |
66,435,805 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1452:Cers3
|
UTSW |
7 |
66,433,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1538:Cers3
|
UTSW |
7 |
66,431,571 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1767:Cers3
|
UTSW |
7 |
66,433,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Cers3
|
UTSW |
7 |
66,433,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2427:Cers3
|
UTSW |
7 |
66,445,541 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3705:Cers3
|
UTSW |
7 |
66,435,823 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3713:Cers3
|
UTSW |
7 |
66,435,823 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3714:Cers3
|
UTSW |
7 |
66,435,823 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3715:Cers3
|
UTSW |
7 |
66,435,823 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3961:Cers3
|
UTSW |
7 |
66,435,823 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3963:Cers3
|
UTSW |
7 |
66,435,823 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4238:Cers3
|
UTSW |
7 |
66,423,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Cers3
|
UTSW |
7 |
66,431,604 (GRCm39) |
splice site |
probably null |
|
|
R5174:Cers3
|
UTSW |
7 |
66,434,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6493:Cers3
|
UTSW |
7 |
66,393,468 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6807:Cers3
|
UTSW |
7 |
66,413,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6833:Cers3
|
UTSW |
7 |
66,429,419 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7223:Cers3
|
UTSW |
7 |
66,433,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7592:Cers3
|
UTSW |
7 |
66,439,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7835:Cers3
|
UTSW |
7 |
66,423,387 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8202:Cers3
|
UTSW |
7 |
66,435,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8322:Cers3
|
UTSW |
7 |
66,439,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8350:Cers3
|
UTSW |
7 |
66,414,090 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8450:Cers3
|
UTSW |
7 |
66,414,090 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8757:Cers3
|
UTSW |
7 |
66,435,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8759:Cers3
|
UTSW |
7 |
66,435,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9149:Cers3
|
UTSW |
7 |
66,393,442 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9712:Cers3
|
UTSW |
7 |
66,423,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCAGCTGTAAGTTACTGGTACC -3'
(R):5'- TCCTGAATGGACAGCAGCAC -3'
Sequencing Primer
(F):5'- CCATTAATATTCTCTCTTCCAGTCAC -3'
(R):5'- CAGTCTCACTTGCAGTGTAGAGACTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation