Incidental Mutation 'R5785:Cers4'
| ID |
447961 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cers4
|
| Ensembl Gene |
ENSMUSG00000008206 |
| Gene Name |
ceramide synthase 4 |
| Synonyms |
2900019C14Rik, CerS4, Lass4, Trh1 |
| MMRRC Submission |
043206-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5785 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
4542863-4579603 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 4566992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008350]
[ENSMUST00000176042]
[ENSMUST00000176130]
|
| AlphaFold |
Q9D6J1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000008350
|
| SMART Domains |
Protein: ENSMUSP00000008350
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 |
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 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
T |
9: 99,502,725 (GRCm39) |
N295I |
probably damaging |
Het |
| Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
| Apbb1 |
C |
A |
7: 105,216,922 (GRCm39) |
D254Y |
probably damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,621,618 (GRCm39) |
M328V |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,440,325 (GRCm39) |
V143D |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,704,996 (GRCm39) |
D493G |
probably damaging |
Het |
| Clec4d |
A |
G |
6: 123,251,729 (GRCm39) |
R204G |
probably benign |
Het |
| Cngb1 |
C |
A |
8: 95,980,823 (GRCm39) |
R910L |
possibly damaging |
Het |
| Coro2a |
A |
T |
4: 46,564,691 (GRCm39) |
N18K |
probably benign |
Het |
| Cwf19l1 |
A |
G |
19: 44,110,380 (GRCm39) |
F290S |
probably damaging |
Het |
| Esp18 |
C |
T |
17: 39,720,839 (GRCm39) |
T28I |
probably damaging |
Het |
| Hdac10 |
A |
T |
15: 89,011,148 (GRCm39) |
F205Y |
probably benign |
Het |
| Hhip |
T |
A |
8: 80,724,821 (GRCm39) |
H317L |
possibly damaging |
Het |
| Il36b |
G |
A |
2: 24,044,661 (GRCm39) |
M20I |
probably benign |
Het |
| Ilf3 |
T |
A |
9: 21,306,168 (GRCm39) |
N276K |
probably damaging |
Het |
| Jchain |
T |
C |
5: 88,670,376 (GRCm39) |
N81S |
probably benign |
Het |
| Mei4 |
A |
G |
9: 81,907,600 (GRCm39) |
Y211C |
probably damaging |
Het |
| Mx2 |
A |
T |
16: 97,339,904 (GRCm39) |
E20V |
possibly damaging |
Het |
| Ndufa10 |
A |
G |
1: 92,388,096 (GRCm39) |
|
probably null |
Het |
| Nodal |
A |
G |
10: 61,259,456 (GRCm39) |
T298A |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,966,863 (GRCm39) |
Y47C |
probably damaging |
Het |
| Onecut1 |
C |
T |
9: 74,770,674 (GRCm39) |
R366C |
probably damaging |
Het |
| Or9q1 |
T |
C |
19: 13,804,983 (GRCm39) |
Y259C |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Ppp5c |
A |
G |
7: 16,761,616 (GRCm39) |
|
probably null |
Het |
| Prag1 |
A |
G |
8: 36,570,641 (GRCm39) |
E408G |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,648,809 (GRCm39) |
N949S |
probably damaging |
Het |
| Scn7a |
A |
C |
2: 66,527,912 (GRCm39) |
N859K |
possibly damaging |
Het |
| Smarca4 |
T |
C |
9: 21,597,322 (GRCm39) |
I1362T |
probably damaging |
Het |
| Syt12 |
T |
C |
19: 4,501,022 (GRCm39) |
R343G |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,200,727 (GRCm39) |
S587P |
probably benign |
Het |
| Trim80 |
C |
T |
11: 115,337,301 (GRCm39) |
Q388* |
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,818,861 (GRCm39) |
|
probably null |
Het |
| Vmn2r130 |
T |
A |
17: 23,280,461 (GRCm39) |
S41T |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,166,444 (GRCm39) |
T896S |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,340,006 (GRCm39) |
E749G |
probably damaging |
Het |
| Zbtb24 |
G |
A |
10: 41,327,849 (GRCm39) |
G245E |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,487,167 (GRCm39) |
V767A |
probably benign |
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 |
|
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 |
|
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'- ATACTGGTAAGGCTTCCCCAAG -3'
(R):5'- GATCCACTAGTCTCTGCACAGC -3'
Sequencing Primer
(F):5'- AAGCCTCAGGTCCTCTCAC -3'
(R):5'- TGGGGGTCTCACAAACCAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation