Incidental Mutation 'R1346:Cers4'
| ID |
156506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cers4
|
| Ensembl Gene |
ENSMUSG00000008206 |
| Gene Name |
ceramide synthase 4 |
| Synonyms |
2900019C14Rik, CerS4, Lass4, Trh1 |
| MMRRC Submission |
039411-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1346 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
4542863-4579603 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4565632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 26
(E26G)
|
| 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: E26G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000008350
Gene: ENSMUSG00000008206
AA Change: E26G
| 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 damaging
Transcript: ENSMUST00000176042
AA Change: E26G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135594
Gene: ENSMUSG00000008206
AA Change: E26G
| 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: E26G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135652
Gene: ENSMUSG00000008206
AA Change: E26G
| 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 |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 90.1%
|
| Validation Efficiency |
98% (43/44) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
C |
A |
14: 32,382,771 (GRCm39) |
A1065S |
probably benign |
Het |
| Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,259,340 (GRCm39) |
G655S |
possibly damaging |
Het |
| Arap3 |
A |
T |
18: 38,108,971 (GRCm39) |
C1228S |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,958 (GRCm39) |
T1248A |
probably benign |
Het |
| Atf7ip2 |
G |
A |
16: 10,052,195 (GRCm39) |
V225I |
probably damaging |
Het |
| Bdp1 |
G |
A |
13: 100,215,263 (GRCm39) |
Q374* |
probably null |
Het |
| Cacng6 |
G |
T |
7: 3,483,438 (GRCm39) |
W255C |
possibly damaging |
Het |
| Camta2 |
T |
C |
11: 70,567,293 (GRCm39) |
K628R |
possibly damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,881,759 (GRCm39) |
|
probably null |
Het |
| Chfr |
A |
G |
5: 110,288,313 (GRCm39) |
D76G |
probably damaging |
Het |
| Chrng |
C |
A |
1: 87,135,985 (GRCm39) |
Q245K |
probably benign |
Het |
| Cnn2 |
T |
C |
10: 79,829,414 (GRCm39) |
|
probably benign |
Het |
| Dyrk2 |
T |
C |
10: 118,695,624 (GRCm39) |
K545E |
possibly damaging |
Het |
| Eif3d |
A |
G |
15: 77,852,754 (GRCm39) |
I9T |
probably damaging |
Het |
| Elovl7 |
A |
G |
13: 108,410,883 (GRCm39) |
I153V |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,810,955 (GRCm39) |
S1013P |
possibly damaging |
Het |
| Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
| Gart |
G |
T |
16: 91,425,070 (GRCm39) |
|
probably null |
Het |
| Gm572 |
G |
A |
4: 148,739,354 (GRCm39) |
V61M |
possibly damaging |
Het |
| Hspbap1 |
G |
A |
16: 35,622,035 (GRCm39) |
A127T |
probably damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,527,658 (GRCm39) |
D898G |
possibly damaging |
Het |
| Kcnrg |
A |
G |
14: 61,849,144 (GRCm39) |
T202A |
probably benign |
Het |
| Lhx1 |
T |
C |
11: 84,412,905 (GRCm39) |
E36G |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,441,735 (GRCm39) |
N167S |
probably damaging |
Het |
| Parp9 |
A |
T |
16: 35,777,267 (GRCm39) |
M171L |
probably benign |
Het |
| Pla2g4e |
G |
A |
2: 120,013,253 (GRCm39) |
R356W |
probably damaging |
Het |
| Ppp4c |
C |
T |
7: 126,391,222 (GRCm39) |
|
probably benign |
Het |
| Rab3c |
G |
A |
13: 110,397,120 (GRCm39) |
R49C |
probably damaging |
Het |
| Rbm25 |
T |
C |
12: 83,691,167 (GRCm39) |
|
probably benign |
Het |
| Sema4g |
T |
A |
19: 44,986,091 (GRCm39) |
S311T |
possibly damaging |
Het |
| Skida1 |
T |
C |
2: 18,053,090 (GRCm39) |
I21V |
possibly damaging |
Het |
| Slc25a32 |
T |
A |
15: 38,963,411 (GRCm39) |
I137F |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,543,929 (GRCm39) |
V4409A |
probably damaging |
Het |
| Stx2 |
G |
A |
5: 129,065,852 (GRCm39) |
|
probably benign |
Het |
| Timeless |
C |
T |
10: 128,078,234 (GRCm39) |
T248M |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,743,900 (GRCm39) |
N728Y |
probably damaging |
Het |
| Zfp592 |
A |
T |
7: 80,687,812 (GRCm39) |
N913Y |
possibly damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTGTCCTACTGTACACACCC -3'
(R):5'- GGCCTATCTAAACTGAGCTTCCCACAAT -3'
Sequencing Primer
(F):5'- CCTttgagttgagttgagttgag -3'
(R):5'- acaccacacacacacacac -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation