Incidental Mutation 'IGL02005:Cep57l1'
| ID |
183167 |
| 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 # |
IGL02005
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
41594836-41685867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41616957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 110
(D110G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019951]
[ENSMUST00000105505]
[ENSMUST00000186239]
[ENSMUST00000187143]
[ENSMUST00000191498]
[ENSMUST00000189770]
[ENSMUST00000190022]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019951
AA Change: D110G
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813
AA Change: D110G
| 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
AA Change: D110G
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000101144
Gene: ENSMUSG00000019813
AA Change: D110G
| 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: ENSMUST00000186239
AA Change: D110G
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813
AA Change: D110G
| 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
AA Change: D110G
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000140389
Gene: ENSMUSG00000019813
AA Change: D110G
| 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: ENSMUST00000187935
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191498
AA Change: D110G
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141089
Gene: ENSMUSG00000019813
AA Change: D110G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cep57_CLD
|
50 |
229 |
1.9e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189770
AA Change: D110G
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000140147
Gene: ENSMUSG00000019813
AA Change: D110G
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,965,927 (GRCm39) |
D141G |
probably damaging |
Het |
| Ankhd1 |
T |
G |
18: 36,781,479 (GRCm39) |
L2177R |
probably damaging |
Het |
| Arhgap23 |
A |
T |
11: 97,382,045 (GRCm39) |
D1136V |
probably damaging |
Het |
| Atp6v1b1 |
A |
G |
6: 83,730,896 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
T |
C |
13: 45,721,701 (GRCm39) |
T65A |
probably benign |
Het |
| Bbs4 |
A |
G |
9: 59,243,638 (GRCm39) |
|
probably benign |
Het |
| Bms1 |
G |
A |
6: 118,381,546 (GRCm39) |
T664M |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,973,682 (GRCm39) |
D2544G |
probably benign |
Het |
| Cdhr2 |
C |
T |
13: 54,867,576 (GRCm39) |
H469Y |
probably benign |
Het |
| Chd4 |
G |
A |
6: 125,105,779 (GRCm39) |
E1786K |
possibly damaging |
Het |
| Cltc |
T |
C |
11: 86,621,045 (GRCm39) |
K321E |
possibly damaging |
Het |
| Col6a2 |
T |
C |
10: 76,446,007 (GRCm39) |
D383G |
probably damaging |
Het |
| Crcp |
T |
G |
5: 130,071,074 (GRCm39) |
C58G |
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,921,975 (GRCm39) |
Y807C |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,785,132 (GRCm39) |
|
probably benign |
Het |
| Glce |
A |
T |
9: 61,967,859 (GRCm39) |
L431I |
probably damaging |
Het |
| Glp1r |
C |
A |
17: 31,143,585 (GRCm39) |
T207K |
probably benign |
Het |
| Gm28042 |
G |
A |
2: 119,865,115 (GRCm39) |
V247I |
possibly damaging |
Het |
| Gvin-ps5 |
G |
T |
7: 105,928,627 (GRCm39) |
F423L |
unknown |
Het |
| Hcrtr1 |
T |
A |
4: 130,031,056 (GRCm39) |
H76L |
probably benign |
Het |
| Hoxb13 |
G |
A |
11: 96,085,435 (GRCm39) |
G56D |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,827,842 (GRCm39) |
E27G |
possibly damaging |
Het |
| Kars1 |
A |
T |
8: 112,726,736 (GRCm39) |
L321* |
probably null |
Het |
| Klhl12 |
A |
T |
1: 134,391,652 (GRCm39) |
T95S |
possibly damaging |
Het |
| Klhl14 |
A |
T |
18: 21,757,668 (GRCm39) |
Y347* |
probably null |
Het |
| Kmt5b |
A |
G |
19: 3,836,538 (GRCm39) |
H25R |
possibly damaging |
Het |
| Krtap12-1 |
T |
A |
10: 77,556,823 (GRCm39) |
V122D |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,766,077 (GRCm39) |
D322G |
possibly damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,628,920 (GRCm39) |
V422D |
probably benign |
Het |
| Med12l |
T |
G |
3: 59,152,368 (GRCm39) |
M1051R |
probably damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,937,728 (GRCm39) |
Y242C |
probably damaging |
Het |
| Ncf2 |
A |
T |
1: 152,692,803 (GRCm39) |
I107L |
possibly damaging |
Het |
| Or6b13 |
C |
T |
7: 139,782,345 (GRCm39) |
E113K |
probably damaging |
Het |
| Pdlim4 |
T |
C |
11: 53,950,810 (GRCm39) |
D93G |
probably benign |
Het |
| Pgap1 |
C |
A |
1: 54,590,214 (GRCm39) |
A75S |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,804,978 (GRCm39) |
D3209G |
possibly damaging |
Het |
| Prcp |
T |
C |
7: 92,577,032 (GRCm39) |
S319P |
probably benign |
Het |
| Rasal2 |
G |
A |
1: 156,984,568 (GRCm39) |
Q1035* |
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,493,608 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,236,145 (GRCm39) |
I544T |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,069,056 (GRCm39) |
V2910E |
possibly damaging |
Het |
| Tln2 |
C |
T |
9: 67,299,787 (GRCm39) |
R155Q |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,655,104 (GRCm39) |
L1278H |
probably damaging |
Het |
| Tti2 |
G |
T |
8: 31,645,858 (GRCm39) |
G391C |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,778,363 (GRCm39) |
M1295I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,554,313 (GRCm39) |
|
probably benign |
Het |
| Vmn1r170 |
G |
A |
7: 23,306,338 (GRCm39) |
V247M |
probably damaging |
Het |
| Wdr48 |
T |
C |
9: 119,734,455 (GRCm39) |
Y125H |
probably damaging |
Het |
| Wdtc1 |
C |
T |
4: 133,036,225 (GRCm39) |
R105H |
probably benign |
Het |
| Zc3h11a |
A |
G |
1: 133,549,880 (GRCm39) |
S699P |
probably benign |
Het |
| Zkscan14 |
C |
T |
5: 145,132,419 (GRCm39) |
V371I |
probably benign |
Het |
| Zzef1 |
A |
T |
11: 72,779,125 (GRCm39) |
Y1862F |
probably benign |
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 |
|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation