Incidental Mutation 'IGL03244:Cers4'
| ID |
414356 |
| 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 # |
IGL03244
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
4542863-4579603 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4566878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 60
(V60E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008350]
[ENSMUST00000176042]
[ENSMUST00000176130]
|
| AlphaFold |
Q9D6J1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008350
AA Change: V60E
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000008350
Gene: ENSMUSG00000008206
AA Change: V60E
| 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: ENSMUST00000176042
|
| SMART Domains |
Protein: ENSMUSP00000135594
Gene: ENSMUSG00000008206
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TLC
|
4 |
38 |
4e-9 |
BLAST |
|
low complexity region
|
39 |
52 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176130
AA Change: V60E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135652
Gene: ENSMUSG00000008206
AA Change: V60E
| 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: 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,756 (GRCm39) |
Y233H |
possibly damaging |
Het |
| Apaf1 |
A |
T |
10: 90,885,211 (GRCm39) |
|
probably benign |
Het |
| Asah2 |
T |
C |
19: 31,964,342 (GRCm39) |
Y696C |
probably damaging |
Het |
| Atp8b3 |
A |
T |
10: 80,370,292 (GRCm39) |
D112E |
probably damaging |
Het |
| B3gat3 |
T |
C |
19: 8,903,215 (GRCm39) |
Y191H |
probably damaging |
Het |
| Capns2 |
T |
C |
8: 93,628,738 (GRCm39) |
I209T |
probably damaging |
Het |
| Ccnl2 |
T |
C |
4: 155,905,479 (GRCm39) |
I303T |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,199,672 (GRCm39) |
S817R |
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,729,683 (GRCm39) |
L36* |
probably null |
Het |
| Ces2e |
T |
C |
8: 105,655,451 (GRCm39) |
Y125H |
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 72,742,489 (GRCm39) |
E497G |
probably benign |
Het |
| Ddx24 |
A |
T |
12: 103,383,864 (GRCm39) |
M575K |
possibly damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,323,655 (GRCm39) |
V1243E |
probably damaging |
Het |
| Elf2 |
A |
T |
3: 51,165,193 (GRCm39) |
Y270* |
probably null |
Het |
| Ep400 |
A |
G |
5: 110,875,429 (GRCm39) |
L844S |
unknown |
Het |
| F13a1 |
A |
T |
13: 37,172,870 (GRCm39) |
I170N |
possibly damaging |
Het |
| Gm16506 |
T |
A |
14: 43,961,603 (GRCm39) |
|
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,653,797 (GRCm39) |
F463L |
probably damaging |
Het |
| H2-M10.2 |
A |
T |
17: 36,596,463 (GRCm39) |
N127K |
probably benign |
Het |
| Lrrc49 |
T |
C |
9: 60,495,140 (GRCm39) |
Y691C |
probably damaging |
Het |
| Mbip |
A |
C |
12: 56,384,547 (GRCm39) |
|
probably null |
Het |
| Or9k2 |
T |
A |
10: 129,998,269 (GRCm39) |
K309* |
probably null |
Het |
| Plod1 |
C |
T |
4: 148,007,580 (GRCm39) |
|
probably null |
Het |
| Primpol |
A |
G |
8: 47,039,475 (GRCm39) |
W382R |
probably damaging |
Het |
| Rufy2 |
A |
G |
10: 62,840,483 (GRCm39) |
E418G |
probably benign |
Het |
| Samm50 |
T |
C |
15: 84,098,341 (GRCm39) |
V460A |
probably benign |
Het |
| Senp2 |
T |
C |
16: 21,859,329 (GRCm39) |
V460A |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,698,442 (GRCm39) |
H453R |
probably benign |
Het |
| Slc22a22 |
A |
G |
15: 57,112,948 (GRCm39) |
|
probably benign |
Het |
| Spag1 |
A |
T |
15: 36,234,529 (GRCm39) |
D763V |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,504,167 (GRCm39) |
|
probably benign |
Het |
| Tppp |
G |
T |
13: 74,169,535 (GRCm39) |
V92F |
possibly damaging |
Het |
| Vmn1r32 |
G |
A |
6: 66,530,489 (GRCm39) |
L96F |
probably damaging |
Het |
| Vmn2r53 |
C |
A |
7: 12,340,435 (GRCm39) |
A13S |
probably damaging |
Het |
| Vmn2r75 |
G |
A |
7: 85,820,933 (GRCm39) |
|
probably benign |
Het |
| Zfp750 |
C |
A |
11: 121,404,513 (GRCm39) |
G121* |
probably null |
Het |
|
| Other mutations in Cers4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00559:Cers4
|
APN |
8 |
4,571,216 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02407:Cers4
|
APN |
8 |
4,570,306 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2016-08-02 |
Incidental Mutation