Incidental Mutation 'R8524:Cers1'
| ID |
658716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cers1
|
| Ensembl Gene |
ENSMUSG00000087408 |
| Gene Name |
ceramide synthase 1 |
| Synonyms |
Uog-1, to, CerS1, Lass1 |
| MMRRC Submission |
067949-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.260)
|
| Stock # |
R8524 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70768425-70784238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70783898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 282
(G282D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075666]
[ENSMUST00000140239]
[ENSMUST00000165819]
[ENSMUST00000207684]
[ENSMUST00000215817]
|
| AlphaFold |
P20863
P27545 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075666
|
| SMART Domains |
Protein: ENSMUSP00000075089
Gene: ENSMUSG00000058301
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
110 |
N/A |
INTRINSIC |
|
Pfam:UPF1_Zn_bind
|
116 |
267 |
4.1e-78 |
PFAM |
|
Pfam:ResIII
|
475 |
617 |
1.3e-6 |
PFAM |
|
Pfam:AAA_11
|
476 |
600 |
4.5e-24 |
PFAM |
|
Pfam:AAA_30
|
476 |
688 |
5.6e-13 |
PFAM |
|
Pfam:AAA_19
|
483 |
559 |
3.8e-16 |
PFAM |
|
Pfam:AAA_11
|
576 |
679 |
7.7e-30 |
PFAM |
|
Pfam:AAA_12
|
686 |
883 |
3.3e-64 |
PFAM |
|
low complexity region
|
995 |
1001 |
N/A |
INTRINSIC |
|
low complexity region
|
1013 |
1028 |
N/A |
INTRINSIC |
|
low complexity region
|
1066 |
1081 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140239
|
| SMART Domains |
Protein: ENSMUSP00000120598
Gene: ENSMUSG00000087408
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
68 |
N/A |
INTRINSIC |
|
TLC
|
97 |
311 |
1.24e-57 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165819
AA Change: G282D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128325
Gene: ENSMUSG00000087408
AA Change: G282D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
33 |
169 |
7e-16 |
PFAM |
|
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
|
TGFB
|
251 |
357 |
6.22e-56 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207684
AA Change: G282D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215817
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Mice lacking a functional copy of this gene exhibit impaired cerebellar development, locomotion and motor coordination. This protein is transcribed from a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for the spontaneous toppler mutation display reduced body and brain weight, a small cerebellum, progressive tremors, ataxia, impaired balance and seizures, as well as dramatic dendritic changes and severe loss of Purkinje cells, glial changes, and a shortened lifespan. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc65 |
A |
T |
15: 98,606,990 (GRCm39) |
T66S |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Col25a1 |
C |
A |
3: 130,342,873 (GRCm39) |
P350H |
probably damaging |
Het |
| Coq5 |
T |
C |
5: 115,422,612 (GRCm39) |
I172T |
probably damaging |
Het |
| Dand5 |
A |
T |
8: 85,549,056 (GRCm39) |
L85* |
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,934,472 (GRCm39) |
W1486R |
possibly damaging |
Het |
| Dpp8 |
T |
C |
9: 64,950,989 (GRCm39) |
Y142H |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gng7 |
T |
A |
10: 80,787,537 (GRCm39) |
H42L |
possibly damaging |
Het |
| Gps2 |
T |
C |
11: 69,805,832 (GRCm39) |
V93A |
probably damaging |
Het |
| Hspa9 |
T |
C |
18: 35,087,297 (GRCm39) |
S3G |
unknown |
Het |
| Impg2 |
A |
G |
16: 56,038,757 (GRCm39) |
N132D |
probably benign |
Het |
| Jak2 |
A |
T |
19: 29,273,105 (GRCm39) |
N643I |
probably damaging |
Het |
| Kcng2 |
T |
C |
18: 80,338,896 (GRCm39) |
D464G |
probably benign |
Het |
| Kdm4b |
T |
A |
17: 56,706,384 (GRCm39) |
C833S |
probably damaging |
Het |
| Ly86 |
G |
A |
13: 37,560,869 (GRCm39) |
D77N |
probably damaging |
Het |
| Map7 |
G |
A |
10: 20,142,569 (GRCm39) |
A330T |
probably benign |
Het |
| Mettl1 |
T |
C |
10: 126,877,908 (GRCm39) |
S21P |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,771,997 (GRCm39) |
Y1540C |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,183,840 (GRCm39) |
L300P |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,392,895 (GRCm39) |
M3222T |
probably benign |
Het |
| Nat8f6 |
A |
G |
6: 85,785,541 (GRCm39) |
Y203H |
probably benign |
Het |
| Nod1 |
C |
T |
6: 54,925,060 (GRCm39) |
E84K |
probably damaging |
Het |
| Or10v9 |
A |
G |
19: 11,832,445 (GRCm39) |
Y291H |
probably damaging |
Het |
| Or2b28 |
T |
C |
13: 21,531,248 (GRCm39) |
V50A |
probably benign |
Het |
| Or8k28 |
T |
C |
2: 86,285,961 (GRCm39) |
Y218C |
probably damaging |
Het |
| Padi2 |
A |
G |
4: 140,677,006 (GRCm39) |
N598S |
possibly damaging |
Het |
| Pclo |
C |
T |
5: 14,729,521 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
T |
G |
4: 134,013,921 (GRCm39) |
E12D |
probably benign |
Het |
| Plcg1 |
G |
A |
2: 160,603,387 (GRCm39) |
|
probably null |
Het |
| Rasgrf1 |
A |
G |
9: 89,797,638 (GRCm39) |
H172R |
possibly damaging |
Het |
| Rnf41 |
C |
G |
10: 128,271,299 (GRCm39) |
R70G |
possibly damaging |
Het |
| Rsbn1 |
A |
T |
3: 103,835,687 (GRCm39) |
K203* |
probably null |
Het |
| Setbp1 |
T |
C |
18: 78,901,969 (GRCm39) |
D566G |
probably damaging |
Het |
| Slc7a14 |
A |
C |
3: 31,278,282 (GRCm39) |
V441G |
possibly damaging |
Het |
| Sorl1 |
T |
A |
9: 41,885,370 (GRCm39) |
N2077I |
probably damaging |
Het |
| Spryd3 |
G |
A |
15: 102,026,583 (GRCm39) |
R363* |
probably null |
Het |
| St6galnac1 |
G |
T |
11: 116,658,547 (GRCm39) |
R306S |
possibly damaging |
Het |
| Tmem245 |
T |
C |
4: 56,906,261 (GRCm39) |
Q548R |
probably benign |
Het |
| Trim35 |
C |
T |
14: 66,544,493 (GRCm39) |
R276C |
probably damaging |
Het |
| Trim55 |
A |
T |
3: 19,725,113 (GRCm39) |
D210V |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,542,115 (GRCm39) |
D279E |
probably benign |
Het |
|
| Other mutations in Cers1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01559:Cers1
|
APN |
8 |
70,775,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01982:Cers1
|
APN |
8 |
70,776,081 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02827:Cers1
|
APN |
8 |
70,774,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1025:Cers1
|
UTSW |
8 |
70,774,186 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1456:Cers1
|
UTSW |
8 |
70,783,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Cers1
|
UTSW |
8 |
70,775,819 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1467:Cers1
|
UTSW |
8 |
70,775,819 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1764:Cers1
|
UTSW |
8 |
70,774,141 (GRCm39) |
splice site |
probably null |
|
|
R2397:Cers1
|
UTSW |
8 |
70,774,186 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3107:Cers1
|
UTSW |
8 |
70,775,286 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3808:Cers1
|
UTSW |
8 |
70,782,660 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3809:Cers1
|
UTSW |
8 |
70,782,660 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4789:Cers1
|
UTSW |
8 |
70,776,018 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5450:Cers1
|
UTSW |
8 |
70,770,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5987:Cers1
|
UTSW |
8 |
70,774,228 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6274:Cers1
|
UTSW |
8 |
70,783,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6535:Cers1
|
UTSW |
8 |
70,782,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7060:Cers1
|
UTSW |
8 |
70,768,555 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7152:Cers1
|
UTSW |
8 |
70,770,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8338:Cers1
|
UTSW |
8 |
70,783,772 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8371:Cers1
|
UTSW |
8 |
70,782,223 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Cers1
|
UTSW |
8 |
70,770,968 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGTGCCCTGTACTGTGC -3'
(R):5'- CACTATTGTCGAAGAAGAGCACGG -3'
Sequencing Primer
(F):5'- TGCTGGTGACGCTGGAC -3'
(R):5'- GAGATGGGTGATAGACGCTCTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation