Incidental Mutation 'IGL00679:Cep57l1'
| ID |
12531 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep57l1
|
| Ensembl Gene |
ENSMUSG00000019813 |
| Gene Name |
centrosomal protein 57-like 1 |
| Synonyms |
2410017P07Rik, 4930484D11Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00679
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
41594836-41685867 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 41595796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 319
(C319*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141031
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019951]
[ENSMUST00000105505]
[ENSMUST00000186239]
[ENSMUST00000187143]
[ENSMUST00000189488]
[ENSMUST00000189770]
[ENSMUST00000190022]
[ENSMUST00000191498]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019951
AA Change: C395*
|
| SMART Domains |
Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813
AA Change: C395*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cep57_CLD
|
50 |
227 |
1.2e-64 |
PFAM |
|
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
|
Pfam:Cep57_MT_bd
|
283 |
356 |
2.5e-20 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105505
AA Change: C366*
|
| SMART Domains |
Protein: ENSMUSP00000101144
Gene: ENSMUSG00000019813
AA Change: C366*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cep57_CLD
|
50 |
223 |
1.1e-66 |
PFAM |
|
Pfam:Cep57_MT_bd
|
252 |
327 |
6.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185394
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000186239
AA Change: C395*
|
| SMART Domains |
Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813
AA Change: C395*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cep57_CLD
|
50 |
227 |
2.3e-72 |
PFAM |
|
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
|
Pfam:Cep57_MT_bd
|
281 |
356 |
1e-21 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000187143
AA Change: C366*
|
| SMART Domains |
Protein: ENSMUSP00000140389
Gene: ENSMUSG00000019813
AA Change: C366*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cep57_CLD
|
50 |
223 |
1.1e-66 |
PFAM |
|
Pfam:Cep57_MT_bd
|
252 |
327 |
6.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189488
|
| SMART Domains |
Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
328 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189770
AA Change: C366*
|
| SMART Domains |
Protein: ENSMUSP00000140147
Gene: ENSMUSG00000019813
AA Change: C366*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cep57_CLD
|
50 |
223 |
1.1e-66 |
PFAM |
|
Pfam:Cep57_MT_bd
|
252 |
327 |
6.8e-22 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190022
AA Change: C319*
|
| SMART Domains |
Protein: ENSMUSP00000141031
Gene: ENSMUSG00000019813
AA Change: C319*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cep57_CLD
|
45 |
151 |
6.6e-38 |
PFAM |
|
low complexity region
|
158 |
169 |
N/A |
INTRINSIC |
|
Pfam:Cep57_MT_bd
|
205 |
280 |
1e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191498
|
| SMART Domains |
Protein: ENSMUSP00000141089
Gene: ENSMUSG00000019813
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cep57_CLD
|
50 |
229 |
1.9e-65 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
C |
A |
12: 52,564,064 (GRCm39) |
A345D |
probably damaging |
Het |
| Ccdc73 |
C |
T |
2: 104,824,936 (GRCm39) |
P990S |
probably damaging |
Het |
| Cep112 |
A |
G |
11: 108,481,879 (GRCm39) |
K692R |
probably damaging |
Het |
| Cfap276 |
A |
G |
3: 108,444,951 (GRCm39) |
E6G |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,362,673 (GRCm39) |
D342G |
probably damaging |
Het |
| Exoc1 |
A |
T |
5: 76,714,870 (GRCm39) |
H742L |
possibly damaging |
Het |
| Faah |
A |
T |
4: 115,865,480 (GRCm39) |
L69Q |
possibly damaging |
Het |
| Fbxw21 |
G |
A |
9: 108,991,032 (GRCm39) |
P9L |
probably damaging |
Het |
| Irak4 |
T |
A |
15: 94,454,509 (GRCm39) |
M218K |
probably benign |
Het |
| Kdm2a |
A |
T |
19: 4,376,869 (GRCm39) |
C235S |
probably damaging |
Het |
| Rab4a |
A |
G |
8: 124,554,153 (GRCm39) |
D29G |
probably damaging |
Het |
| Slc22a8 |
A |
G |
19: 8,582,219 (GRCm39) |
I133M |
possibly damaging |
Het |
| Wipi2 |
A |
G |
5: 142,644,904 (GRCm39) |
D170G |
probably damaging |
Het |
|
| Other mutations in Cep57l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Cep57l1
|
APN |
10 |
41,597,547 (GRCm39) |
intron |
probably benign |
|
|
IGL00839:Cep57l1
|
APN |
10 |
41,607,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01013:Cep57l1
|
APN |
10 |
41,616,865 (GRCm39) |
nonsense |
probably null |
|
|
IGL01479:Cep57l1
|
APN |
10 |
41,604,635 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01830:Cep57l1
|
APN |
10 |
41,604,649 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02005:Cep57l1
|
APN |
10 |
41,616,957 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02679:Cep57l1
|
APN |
10 |
41,605,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02697:Cep57l1
|
APN |
10 |
41,598,950 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03328:Cep57l1
|
APN |
10 |
41,619,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2147:Cep57l1
|
UTSW |
10 |
41,616,895 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3712:Cep57l1
|
UTSW |
10 |
41,619,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4049:Cep57l1
|
UTSW |
10 |
41,605,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4050:Cep57l1
|
UTSW |
10 |
41,605,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Cep57l1
|
UTSW |
10 |
41,595,767 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4764:Cep57l1
|
UTSW |
10 |
41,597,678 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4929:Cep57l1
|
UTSW |
10 |
41,621,910 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6058:Cep57l1
|
UTSW |
10 |
41,616,918 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6386:Cep57l1
|
UTSW |
10 |
41,619,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6788:Cep57l1
|
UTSW |
10 |
41,619,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7334:Cep57l1
|
UTSW |
10 |
41,597,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7724:Cep57l1
|
UTSW |
10 |
41,621,838 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7738:Cep57l1
|
UTSW |
10 |
41,616,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Cep57l1
|
UTSW |
10 |
41,598,936 (GRCm39) |
nonsense |
probably null |
|
|
R8191:Cep57l1
|
UTSW |
10 |
41,616,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9026:Cep57l1
|
UTSW |
10 |
41,607,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9289:Cep57l1
|
UTSW |
10 |
41,607,082 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9614:Cep57l1
|
UTSW |
10 |
41,597,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9643:Cep57l1
|
UTSW |
10 |
41,597,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation