Incidental Mutation 'IGL02697:Cep57l1'
ID |
303982 |
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 # |
IGL02697
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
41594836-41685867 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 41598950 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 212
(P212T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141031
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019951]
[ENSMUST00000105505]
[ENSMUST00000186239]
[ENSMUST00000187143]
[ENSMUST00000189770]
[ENSMUST00000190022]
[ENSMUST00000191498]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019951
AA Change: P288T
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000019951 Gene: ENSMUSG00000019813 AA Change: P288T
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 |
possibly damaging
Transcript: ENSMUST00000105505
AA Change: P259T
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000101144 Gene: ENSMUSG00000019813 AA Change: P259T
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 benign
Transcript: ENSMUST00000186239
AA Change: P288T
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000139509 Gene: ENSMUSG00000019813 AA Change: P288T
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 |
possibly damaging
Transcript: ENSMUST00000187143
AA Change: P259T
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000140389 Gene: ENSMUSG00000019813 AA Change: P259T
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 |
possibly damaging
Transcript: ENSMUST00000189770
AA Change: P259T
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000140147 Gene: ENSMUSG00000019813 AA Change: P259T
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 |
possibly damaging
Transcript: ENSMUST00000190022
AA Change: P212T
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141031 Gene: ENSMUSG00000019813 AA Change: P212T
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg2 |
A |
T |
4: 47,471,772 (GRCm39) |
N345K |
probably damaging |
Het |
Atp13a5 |
T |
A |
16: 29,167,350 (GRCm39) |
H151L |
probably benign |
Het |
C2cd3 |
T |
C |
7: 100,076,376 (GRCm39) |
|
probably benign |
Het |
Coch |
G |
A |
12: 51,643,821 (GRCm39) |
A135T |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cul5 |
A |
G |
9: 53,566,631 (GRCm39) |
S134P |
probably benign |
Het |
Cyp4f14 |
T |
C |
17: 33,124,597 (GRCm39) |
T485A |
probably damaging |
Het |
Dennd3 |
T |
C |
15: 73,396,085 (GRCm39) |
F198S |
possibly damaging |
Het |
Dennd5a |
C |
A |
7: 109,493,988 (GRCm39) |
A1239S |
probably damaging |
Het |
Dhx8 |
T |
C |
11: 101,645,607 (GRCm39) |
I822T |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,445,289 (GRCm39) |
M4142L |
probably benign |
Het |
Dyrk4 |
T |
A |
6: 126,875,971 (GRCm39) |
N88I |
possibly damaging |
Het |
Emc1 |
T |
C |
4: 139,079,955 (GRCm39) |
F9L |
probably benign |
Het |
Gga1 |
A |
G |
15: 78,769,546 (GRCm39) |
E173G |
probably damaging |
Het |
H1f7 |
T |
C |
15: 98,155,050 (GRCm39) |
K33R |
probably benign |
Het |
Hepacam2 |
A |
T |
6: 3,476,036 (GRCm39) |
H296Q |
possibly damaging |
Het |
Ipo9 |
G |
T |
1: 135,318,314 (GRCm39) |
Q699K |
probably benign |
Het |
Jmy |
A |
T |
13: 93,596,209 (GRCm39) |
Y473* |
probably null |
Het |
Kdm5b |
A |
T |
1: 134,516,511 (GRCm39) |
|
probably benign |
Het |
Kit |
A |
G |
5: 75,767,919 (GRCm39) |
S101G |
probably benign |
Het |
Krtap4-9 |
T |
A |
11: 99,676,574 (GRCm39) |
V165E |
unknown |
Het |
Lnpep |
T |
A |
17: 17,773,455 (GRCm39) |
M639L |
probably benign |
Het |
Lrp10 |
C |
T |
14: 54,707,154 (GRCm39) |
P664S |
probably damaging |
Het |
Nrde2 |
A |
T |
12: 100,097,466 (GRCm39) |
L778H |
probably damaging |
Het |
Oat |
A |
T |
7: 132,171,684 (GRCm39) |
|
probably null |
Het |
Pfkl |
A |
T |
10: 77,835,752 (GRCm39) |
S219T |
probably benign |
Het |
Phtf1 |
C |
T |
3: 103,904,879 (GRCm39) |
A509V |
probably benign |
Het |
Pigz |
T |
A |
16: 31,763,577 (GRCm39) |
|
probably null |
Het |
Pltp |
T |
A |
2: 164,682,446 (GRCm39) |
Y344F |
probably benign |
Het |
Ppp6r2 |
A |
G |
15: 89,140,958 (GRCm39) |
Y107C |
probably benign |
Het |
Ptprk |
A |
G |
10: 28,451,614 (GRCm39) |
D1034G |
possibly damaging |
Het |
Rell1 |
C |
T |
5: 64,084,354 (GRCm39) |
V221I |
probably damaging |
Het |
Skint5 |
A |
G |
4: 113,336,910 (GRCm39) |
F1429S |
probably benign |
Het |
Slc22a28 |
T |
A |
19: 8,094,491 (GRCm39) |
T177S |
probably benign |
Het |
Stxbp5 |
G |
T |
10: 9,638,700 (GRCm39) |
S1033* |
probably null |
Het |
Tgs1 |
A |
G |
4: 3,585,564 (GRCm39) |
D147G |
probably benign |
Het |
Thumpd3 |
T |
A |
6: 113,044,256 (GRCm39) |
N423K |
probably benign |
Het |
Tns3 |
G |
T |
11: 8,442,346 (GRCm39) |
D672E |
probably benign |
Het |
Vmn2r61 |
T |
A |
7: 41,924,892 (GRCm39) |
V482E |
possibly damaging |
Het |
Vmn2r72 |
G |
T |
7: 85,387,879 (GRCm39) |
Q562K |
probably benign |
Het |
Zan |
T |
C |
5: 137,398,810 (GRCm39) |
T4185A |
unknown |
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 |
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 |
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 |
2015-04-16 |