Incidental Mutation 'IGL00559:Cers4'
| ID |
5083 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cers4
|
| Ensembl Gene |
ENSMUSG00000008206 |
| Gene Name |
ceramide synthase 4 |
| Synonyms |
2900019C14Rik, CerS4, Lass4, Trh1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00559
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
4542863-4579603 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4571216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 262
(D262N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008350]
[ENSMUST00000176130]
|
| AlphaFold |
Q9D6J1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008350
AA Change: D262N
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000008350
Gene: ENSMUSG00000008206
AA Change: D262N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
52 |
N/A |
INTRINSIC |
|
HOX
|
75 |
132 |
2.42e-2 |
SMART |
|
TLC
|
131 |
332 |
2.74e-82 |
SMART |
|
low complexity region
|
342 |
357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175781
|
| SMART Domains |
Protein: ENSMUSP00000138819
Gene: ENSMUSG00000008206
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
52 |
N/A |
INTRINSIC |
|
HOX
|
75 |
132 |
2.42e-2 |
SMART |
|
TLC
|
131 |
332 |
2.74e-82 |
SMART |
|
low complexity region
|
342 |
357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176130
|
| SMART Domains |
Protein: ENSMUSP00000135652
Gene: ENSMUSG00000008206
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
39 |
56 |
N/A |
INTRINSIC |
|
HOX
|
75 |
132 |
1.2e-4 |
SMART |
|
transmembrane domain
|
140 |
162 |
N/A |
INTRINSIC |
|
transmembrane domain
|
177 |
199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176267
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176705
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176837
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193830
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177010
|
| SMART Domains |
Protein: ENSMUSP00000135763
Gene: ENSMUSG00000008206
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TLC
|
4 |
58 |
7e-9 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered lipid composition of the sebum and hair follicle dystrophy that results in a progressive form of alopecia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cyp2d26 |
G |
A |
15: 82,675,244 (GRCm39) |
A370V |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,846,449 (GRCm39) |
M4000T |
possibly damaging |
Het |
| Enkd1 |
C |
T |
8: 106,430,974 (GRCm39) |
|
probably benign |
Het |
| H60b |
A |
G |
10: 22,161,692 (GRCm39) |
H60R |
probably benign |
Het |
| Hmgb4 |
T |
C |
4: 128,154,082 (GRCm39) |
N162S |
probably benign |
Het |
| Htt |
T |
C |
5: 35,006,448 (GRCm39) |
|
probably benign |
Het |
| Kbtbd6 |
A |
G |
14: 79,690,688 (GRCm39) |
D461G |
probably damaging |
Het |
| Nell2 |
A |
G |
15: 95,425,166 (GRCm39) |
L62P |
possibly damaging |
Het |
| Pi4k2b |
T |
A |
5: 52,908,790 (GRCm39) |
F205L |
probably damaging |
Het |
| Polr1b |
G |
T |
2: 128,955,651 (GRCm39) |
V521F |
probably damaging |
Het |
| Prn |
G |
A |
2: 131,795,335 (GRCm39) |
V152I |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,711,667 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
G |
T |
5: 17,899,858 (GRCm39) |
G450V |
probably damaging |
Het |
| Sema3d |
G |
A |
5: 12,613,189 (GRCm39) |
R422K |
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,515,501 (GRCm39) |
D16G |
probably damaging |
Het |
| Tas2r121 |
T |
C |
6: 132,677,484 (GRCm39) |
I163V |
probably benign |
Het |
|
| Other mutations in Cers4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02407:Cers4
|
APN |
8 |
4,570,306 (GRCm39) |
nonsense |
probably null |
|
|
IGL03244:Cers4
|
APN |
8 |
4,566,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Radlauer
|
UTSW |
8 |
4,569,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
willis
|
UTSW |
8 |
4,568,269 (GRCm39) |
nonsense |
probably null |
|
|
R1170:Cers4
|
UTSW |
8 |
4,569,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1177:Cers4
|
UTSW |
8 |
4,566,931 (GRCm39) |
missense |
probably null |
0.00 |
|
R1346:Cers4
|
UTSW |
8 |
4,565,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1506:Cers4
|
UTSW |
8 |
4,570,557 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1652:Cers4
|
UTSW |
8 |
4,566,908 (GRCm39) |
splice site |
probably null |
|
|
R1819:Cers4
|
UTSW |
8 |
4,571,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1952:Cers4
|
UTSW |
8 |
4,573,461 (GRCm39) |
nonsense |
probably null |
|
|
R3790:Cers4
|
UTSW |
8 |
4,568,285 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4342:Cers4
|
UTSW |
8 |
4,571,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Cers4
|
UTSW |
8 |
4,565,565 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5338:Cers4
|
UTSW |
8 |
4,565,680 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5785:Cers4
|
UTSW |
8 |
4,566,992 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5980:Cers4
|
UTSW |
8 |
4,568,269 (GRCm39) |
nonsense |
probably null |
|
|
R6315:Cers4
|
UTSW |
8 |
4,566,980 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6891:Cers4
|
UTSW |
8 |
4,573,731 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7554:Cers4
|
UTSW |
8 |
4,565,718 (GRCm39) |
missense |
probably benign |
|
|
R7921:Cers4
|
UTSW |
8 |
4,565,704 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8368:Cers4
|
UTSW |
8 |
4,565,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation