Incidental Mutation 'R2427:Cers3'
| ID |
250274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cers3
|
| Ensembl Gene |
ENSMUSG00000030510 |
| Gene Name |
ceramide synthase 3 |
| Synonyms |
T3L, related to TRH3, Lass3, CerS3, 4930550L11Rik, LOC233330 |
| MMRRC Submission |
040389-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.272)
|
| Stock # |
R2427 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
66393252-66473439 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66445541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 321
(Y321H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066475]
[ENSMUST00000208521]
|
| AlphaFold |
Q1A3B0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066475
AA Change: Y321H
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000069238
Gene: ENSMUSG00000030510
AA Change: Y321H
| 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 |
probably benign
Transcript: ENSMUST00000208521
AA Change: Y285H
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Meta Mutation Damage Score |
0.1065 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy1 |
A |
G |
1: 92,798,529 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
T |
A |
7: 126,045,755 (GRCm39) |
*995L |
probably null |
Het |
| Axin2 |
T |
A |
11: 108,814,800 (GRCm39) |
N229K |
possibly damaging |
Het |
| Capn13 |
A |
T |
17: 73,633,312 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,929,545 (GRCm39) |
I1202V |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,245,534 (GRCm39) |
L974P |
probably damaging |
Het |
| Chrnb4 |
T |
C |
9: 54,942,101 (GRCm39) |
Y391C |
probably benign |
Het |
| Ciao1 |
T |
C |
2: 127,088,611 (GRCm39) |
H104R |
probably damaging |
Het |
| Cldn4 |
A |
T |
5: 134,975,331 (GRCm39) |
V90E |
probably damaging |
Het |
| Crbn |
T |
C |
6: 106,760,433 (GRCm39) |
E253G |
probably damaging |
Het |
| Ctns |
A |
G |
11: 73,087,512 (GRCm39) |
W5R |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,541,801 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,201,638 (GRCm39) |
T479S |
probably benign |
Het |
| Fbxw25 |
T |
C |
9: 109,481,928 (GRCm39) |
N253D |
probably benign |
Het |
| Fer |
A |
G |
17: 64,264,298 (GRCm39) |
I39V |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,006,991 (GRCm39) |
M768V |
probably damaging |
Het |
| Frg1 |
T |
C |
8: 41,867,903 (GRCm39) |
K24E |
probably damaging |
Het |
| I830077J02Rik |
G |
T |
3: 105,835,320 (GRCm39) |
A19D |
probably damaging |
Het |
| Ighv1-20 |
C |
T |
12: 114,687,692 (GRCm39) |
|
silent |
Het |
| Igsf9 |
A |
G |
1: 172,318,306 (GRCm39) |
S149G |
probably damaging |
Het |
| Klra10 |
T |
A |
6: 130,256,298 (GRCm39) |
I119F |
probably benign |
Het |
| Lrrc4b |
T |
A |
7: 44,111,976 (GRCm39) |
I616N |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,653,309 (GRCm39) |
T64A |
probably benign |
Het |
| Ly9 |
A |
T |
1: 171,434,800 (GRCm39) |
I31N |
probably damaging |
Het |
| Mef2a |
A |
G |
7: 66,915,808 (GRCm39) |
S165P |
probably damaging |
Het |
| Nol4 |
T |
G |
18: 22,983,755 (GRCm39) |
|
probably benign |
Het |
| Nt5el |
T |
C |
13: 105,246,269 (GRCm39) |
F277L |
probably benign |
Het |
| Plxnd1 |
C |
T |
6: 115,944,709 (GRCm39) |
|
probably null |
Het |
| Rab27b |
T |
C |
18: 70,129,205 (GRCm39) |
T30A |
probably damaging |
Het |
| Rasa4 |
A |
G |
5: 136,130,881 (GRCm39) |
D384G |
probably benign |
Het |
| Slx4 |
G |
A |
16: 3,806,851 (GRCm39) |
L531F |
probably damaging |
Het |
| Tafa4 |
C |
T |
6: 96,991,328 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,949,557 (GRCm39) |
|
probably null |
Het |
| Tpm2 |
T |
C |
4: 43,523,306 (GRCm39) |
N17D |
probably damaging |
Het |
| Tyrp1 |
A |
G |
4: 80,769,108 (GRCm39) |
T134A |
probably benign |
Het |
| Zfand6 |
T |
A |
7: 84,283,498 (GRCm39) |
K35* |
probably null |
Het |
| Zfp648 |
G |
A |
1: 154,080,819 (GRCm39) |
C326Y |
probably 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 |
|
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 |
|
R6675:Cers3
|
UTSW |
7 |
66,435,844 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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'- CTGTCAAACAGGAAGTGGCATG -3'
(R):5'- GTAGAAACATCTCCGACTTGGG -3'
Sequencing Primer
(F):5'- CCTCAGGAAACAGGCTATACTTTTTG -3'
(R):5'- GGAGCCTTACCTGCGTGAATATG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation