Incidental Mutation 'IGL00402:Cep57l1'
| ID |
6110 |
| 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 # |
IGL00402
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
41594836-41685867 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to G
at 41597547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141089
(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 benign
Transcript: ENSMUST00000019951
|
| SMART Domains |
Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813
| 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 benign
Transcript: ENSMUST00000105505
|
| SMART Domains |
Protein: ENSMUSP00000101144
Gene: ENSMUSG00000019813
| 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 |
unknown
Transcript: ENSMUST00000185394
AA Change: R59S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186239
|
| SMART Domains |
Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813
| 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 benign
Transcript: ENSMUST00000187143
|
| SMART Domains |
Protein: ENSMUSP00000140389
Gene: ENSMUSG00000019813
| 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 |
noncoding transcript
Transcript: ENSMUST00000188463
|
| 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 benign
Transcript: ENSMUST00000189770
|
| SMART Domains |
Protein: ENSMUSP00000140147
Gene: ENSMUSG00000019813
| 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: ENSMUST00000190022
|
| SMART Domains |
Protein: ENSMUSP00000141031
Gene: ENSMUSG00000019813
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,514,165 (GRCm39) |
L846H |
probably benign |
Het |
| Abca6 |
A |
T |
11: 110,075,535 (GRCm39) |
L1319I |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,043,065 (GRCm39) |
|
probably benign |
Het |
| Atg16l2 |
A |
C |
7: 100,945,360 (GRCm39) |
S268R |
probably benign |
Het |
| Atp1b3 |
T |
C |
9: 96,215,756 (GRCm39) |
|
probably benign |
Het |
| Atxn7 |
T |
G |
14: 14,096,324 (GRCm38) |
|
probably benign |
Het |
| Birc6 |
G |
A |
17: 74,880,558 (GRCm39) |
|
probably benign |
Het |
| C4b |
G |
A |
17: 34,953,402 (GRCm39) |
T1027I |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,722,863 (GRCm39) |
I577T |
probably damaging |
Het |
| Cbx6 |
A |
G |
15: 79,713,130 (GRCm39) |
V99A |
possibly damaging |
Het |
| Ccr9 |
A |
C |
9: 123,609,109 (GRCm39) |
I252L |
probably benign |
Het |
| Cdh8 |
A |
T |
8: 100,006,322 (GRCm39) |
D88E |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,749,306 (GRCm39) |
S258P |
probably damaging |
Het |
| Cip2a |
T |
A |
16: 48,822,178 (GRCm39) |
H234Q |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,588,819 (GRCm39) |
T1099A |
possibly damaging |
Het |
| Col4a4 |
C |
T |
1: 82,469,362 (GRCm39) |
G802D |
unknown |
Het |
| Ddx41 |
T |
C |
13: 55,679,212 (GRCm39) |
T545A |
probably damaging |
Het |
| Disc1 |
A |
T |
8: 125,815,014 (GRCm39) |
T293S |
probably benign |
Het |
| Fam13b |
A |
T |
18: 34,587,771 (GRCm39) |
V509D |
probably damaging |
Het |
| Ffar4 |
C |
T |
19: 38,095,837 (GRCm39) |
P192L |
probably benign |
Het |
| Fn1 |
C |
A |
1: 71,680,322 (GRCm39) |
C461F |
probably damaging |
Het |
| Gm14226 |
G |
T |
2: 154,867,078 (GRCm39) |
S345I |
probably damaging |
Het |
| Gopc |
T |
C |
10: 52,225,326 (GRCm39) |
K308E |
probably damaging |
Het |
| Hapln2 |
A |
T |
3: 87,931,641 (GRCm39) |
N28K |
possibly damaging |
Het |
| Hectd1 |
T |
C |
12: 51,815,891 (GRCm39) |
S1394G |
possibly damaging |
Het |
| Hectd1 |
T |
C |
12: 51,806,215 (GRCm39) |
H1807R |
probably benign |
Het |
| Ifnl2 |
A |
T |
7: 28,208,290 (GRCm39) |
V193D |
possibly damaging |
Het |
| Il1rap |
T |
A |
16: 26,541,151 (GRCm39) |
M464K |
possibly damaging |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,557 (GRCm39) |
C282* |
probably null |
Het |
| Ltv1 |
C |
T |
10: 13,066,327 (GRCm39) |
V100I |
probably benign |
Het |
| Mcf2l |
T |
C |
8: 13,050,857 (GRCm39) |
S308P |
probably damaging |
Het |
| Narf |
G |
A |
11: 121,129,344 (GRCm39) |
|
probably null |
Het |
| Nmd3 |
T |
A |
3: 69,652,573 (GRCm39) |
N386K |
possibly damaging |
Het |
| Noxo1 |
C |
T |
17: 24,917,910 (GRCm39) |
|
probably benign |
Het |
| Or1e30 |
T |
A |
11: 73,678,406 (GRCm39) |
I214N |
probably damaging |
Het |
| Ppic |
C |
T |
18: 53,542,366 (GRCm39) |
G114D |
probably damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,123,014 (GRCm39) |
S339P |
probably benign |
Het |
| Ptprg |
T |
A |
14: 12,215,992 (GRCm38) |
L1147Q |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,617,326 (GRCm39) |
V1072A |
probably benign |
Het |
| Rad54l2 |
T |
A |
9: 106,577,760 (GRCm39) |
M1054L |
probably benign |
Het |
| Scara5 |
A |
C |
14: 65,975,864 (GRCm39) |
|
probably benign |
Het |
| Smtnl2 |
C |
T |
11: 72,294,085 (GRCm39) |
|
probably benign |
Het |
| Spink8 |
A |
T |
9: 109,648,287 (GRCm39) |
I25F |
probably benign |
Het |
| Vit |
G |
A |
17: 78,909,336 (GRCm39) |
|
probably null |
Het |
| Vps13b |
A |
G |
15: 35,926,372 (GRCm39) |
D3891G |
possibly damaging |
Het |
| Zfp207 |
T |
A |
11: 80,283,911 (GRCm39) |
M277K |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,732,623 (GRCm39) |
D641G |
probably benign |
Het |
|
| Other mutations in Cep57l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00679:Cep57l1
|
APN |
10 |
41,595,796 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2012-04-20 |
Incidental Mutation