Incidental Mutation 'IGL02897:Cers6'
| ID |
363428 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cers6
|
| Ensembl Gene |
ENSMUSG00000027035 |
| Gene Name |
ceramide synthase 6 |
| Synonyms |
similar to TRH1, CerS6, T1L, Lass6, 4732462C07Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
IGL02897
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
68691785-68944626 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 68764877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 63
(C63*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135604
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028426]
[ENSMUST00000176018]
|
| AlphaFold |
Q8C172 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028426
AA Change: C63*
|
| SMART Domains |
Protein: ENSMUSP00000028426
Gene: ENSMUSG00000027035
AA Change: C63*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TLC
|
10 |
57 |
6e-7 |
BLAST |
|
HOX
|
73 |
131 |
2.92e-2 |
SMART |
|
TLC
|
130 |
331 |
1.21e-74 |
SMART |
|
low complexity region
|
336 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
373 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175684
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176018
AA Change: C63*
|
| SMART Domains |
Protein: ENSMUSP00000135604
Gene: ENSMUSG00000027035
AA Change: C63*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TLC
|
10 |
57 |
7e-7 |
BLAST |
|
HOX
|
73 |
131 |
2.92e-2 |
SMART |
|
TLC
|
130 |
331 |
1.21e-74 |
SMART |
|
low complexity region
|
344 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
381 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knockout allele exhibit hind limb clasping, habituation deficit and altered lipid homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
A |
11: 23,467,308 (GRCm39) |
E108D |
probably benign |
Het |
| Abca7 |
T |
C |
10: 79,837,426 (GRCm39) |
F437L |
probably damaging |
Het |
| Abi2 |
T |
C |
1: 60,487,353 (GRCm39) |
V134A |
probably damaging |
Het |
| Ablim2 |
T |
C |
5: 35,990,470 (GRCm39) |
I75T |
probably damaging |
Het |
| Aldh1a3 |
A |
G |
7: 66,077,075 (GRCm39) |
V29A |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,937,947 (GRCm39) |
K2715E |
probably damaging |
Het |
| Cd163 |
A |
T |
6: 124,302,486 (GRCm39) |
S1017C |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,395,067 (GRCm39) |
I76V |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,660,496 (GRCm39) |
|
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,573,179 (GRCm39) |
N198D |
unknown |
Het |
| Cse1l |
T |
C |
2: 166,761,628 (GRCm39) |
C61R |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,323,123 (GRCm39) |
T2815A |
possibly damaging |
Het |
| Cyp19a1 |
G |
T |
9: 54,074,195 (GRCm39) |
T453K |
possibly damaging |
Het |
| Dlg1 |
G |
T |
16: 31,590,674 (GRCm39) |
|
probably null |
Het |
| Dpp7 |
T |
C |
2: 25,243,684 (GRCm39) |
Y339C |
probably damaging |
Het |
| Dtl |
T |
C |
1: 191,273,656 (GRCm39) |
|
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,219,466 (GRCm39) |
E469G |
probably damaging |
Het |
| Ing3 |
T |
A |
6: 21,969,325 (GRCm39) |
V202E |
probably benign |
Het |
| Inpp5j |
A |
G |
11: 3,450,619 (GRCm39) |
L578P |
probably damaging |
Het |
| Irak4 |
A |
G |
15: 94,451,872 (GRCm39) |
N155S |
probably benign |
Het |
| Kif2b |
A |
T |
11: 91,467,045 (GRCm39) |
S413T |
probably damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,807,692 (GRCm39) |
Y490F |
probably damaging |
Het |
| Med17 |
T |
G |
9: 15,178,830 (GRCm39) |
D447A |
probably damaging |
Het |
| Med26 |
T |
C |
8: 73,250,365 (GRCm39) |
T245A |
probably benign |
Het |
| Nlrc3 |
A |
T |
16: 3,781,938 (GRCm39) |
S490R |
possibly damaging |
Het |
| Nme5 |
A |
G |
18: 34,702,956 (GRCm39) |
|
probably benign |
Het |
| Or51aa5 |
T |
C |
7: 103,167,337 (GRCm39) |
R85G |
probably benign |
Het |
| Rnf10 |
G |
T |
5: 115,386,700 (GRCm39) |
Q530K |
probably benign |
Het |
| Robo3 |
A |
T |
9: 37,338,798 (GRCm39) |
Y281* |
probably null |
Het |
| Sclt1 |
T |
C |
3: 41,629,822 (GRCm39) |
I330V |
probably benign |
Het |
| Smim14 |
A |
T |
5: 65,607,739 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
T |
G |
9: 111,196,585 (GRCm39) |
H1536Q |
probably damaging |
Het |
| Tspan18 |
A |
G |
2: 93,050,518 (GRCm39) |
L35P |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,199,819 (GRCm39) |
V4568M |
probably damaging |
Het |
| Vmn1r63 |
A |
G |
7: 5,805,744 (GRCm39) |
V296A |
possibly damaging |
Het |
|
| Other mutations in Cers6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02513:Cers6
|
APN |
2 |
68,899,013 (GRCm39) |
missense |
probably benign |
|
|
IGL03299:Cers6
|
APN |
2 |
68,692,128 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0520:Cers6
|
UTSW |
2 |
68,935,435 (GRCm39) |
nonsense |
probably null |
|
|
R1280:Cers6
|
UTSW |
2 |
68,899,033 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2497:Cers6
|
UTSW |
2 |
68,901,790 (GRCm39) |
splice site |
probably benign |
|
|
R4843:Cers6
|
UTSW |
2 |
68,899,003 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4931:Cers6
|
UTSW |
2 |
68,935,456 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5723:Cers6
|
UTSW |
2 |
68,938,789 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5973:Cers6
|
UTSW |
2 |
68,898,969 (GRCm39) |
splice site |
probably null |
|
|
R6058:Cers6
|
UTSW |
2 |
68,692,008 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6453:Cers6
|
UTSW |
2 |
68,877,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6788:Cers6
|
UTSW |
2 |
68,938,903 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7493:Cers6
|
UTSW |
2 |
68,692,151 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8055:Cers6
|
UTSW |
2 |
68,777,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8364:Cers6
|
UTSW |
2 |
68,692,083 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8399:Cers6
|
UTSW |
2 |
68,692,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9256:Cers6
|
UTSW |
2 |
68,777,706 (GRCm39) |
splice site |
probably benign |
|
|
R9670:Cers6
|
UTSW |
2 |
68,833,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation