Incidental Mutation 'IGL02679:Cep57l1'
ID |
303304 |
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 # |
IGL02679
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
41594836-41685867 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41605382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 121
(E121G)
|
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 damaging
Transcript: ENSMUST00000019951
AA Change: E197G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000019951 Gene: ENSMUSG00000019813 AA Change: E197G
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 damaging
Transcript: ENSMUST00000105505
AA Change: E197G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101144 Gene: ENSMUSG00000019813 AA Change: E197G
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 damaging
Transcript: ENSMUST00000186239
AA Change: E197G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139509 Gene: ENSMUSG00000019813 AA Change: E197G
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 damaging
Transcript: ENSMUST00000187143
AA Change: E197G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140389 Gene: ENSMUSG00000019813 AA Change: E197G
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: ENSMUST00000188463
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189770
AA Change: E197G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140147 Gene: ENSMUSG00000019813 AA Change: E197G
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 damaging
Transcript: ENSMUST00000190022
AA Change: E121G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141031 Gene: ENSMUSG00000019813 AA Change: E121G
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 damaging
Transcript: ENSMUST00000191498
AA Change: E197G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141089 Gene: ENSMUSG00000019813 AA Change: E197G
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 |
4930442H23Rik |
T |
A |
10: 81,018,813 (GRCm39) |
|
probably benign |
Het |
Adam5 |
A |
T |
8: 25,296,542 (GRCm39) |
Y302N |
probably damaging |
Het |
Ankrd34c |
A |
T |
9: 89,612,132 (GRCm39) |
Y70N |
probably damaging |
Het |
Asph |
G |
A |
4: 9,601,349 (GRCm39) |
P190S |
possibly damaging |
Het |
Atp6v1h |
T |
C |
1: 5,194,525 (GRCm39) |
C235R |
probably damaging |
Het |
Brwd1 |
A |
G |
16: 95,804,023 (GRCm39) |
L2049P |
probably benign |
Het |
Capn2 |
T |
A |
1: 182,300,149 (GRCm39) |
I614F |
probably benign |
Het |
Ccdc126 |
T |
A |
6: 49,310,995 (GRCm39) |
M1K |
probably null |
Het |
Cdh9 |
T |
C |
15: 16,832,316 (GRCm39) |
I401T |
probably damaging |
Het |
Cfap46 |
A |
G |
7: 139,194,386 (GRCm39) |
I2276T |
probably damaging |
Het |
Cnnm3 |
T |
C |
1: 36,559,239 (GRCm39) |
S490P |
probably benign |
Het |
D430041D05Rik |
C |
T |
2: 104,060,650 (GRCm39) |
V731I |
possibly damaging |
Het |
Dynlt2b |
T |
C |
16: 32,244,125 (GRCm39) |
V107A |
possibly damaging |
Het |
Fgf3 |
C |
A |
7: 144,394,487 (GRCm39) |
N100K |
probably damaging |
Het |
Gas7 |
G |
A |
11: 67,566,553 (GRCm39) |
|
probably null |
Het |
Gfm1 |
C |
T |
3: 67,382,100 (GRCm39) |
P725S |
possibly damaging |
Het |
Gimap4 |
T |
A |
6: 48,667,429 (GRCm39) |
C61* |
probably null |
Het |
Greb1 |
C |
T |
12: 16,758,724 (GRCm39) |
R664Q |
probably damaging |
Het |
Kpnb1 |
T |
A |
11: 97,068,086 (GRCm39) |
I295F |
possibly damaging |
Het |
Lamc3 |
A |
G |
2: 31,835,410 (GRCm39) |
E1577G |
probably benign |
Het |
Lrrk1 |
C |
T |
7: 65,924,620 (GRCm39) |
V235M |
probably damaging |
Het |
Meak7 |
A |
T |
8: 120,499,149 (GRCm39) |
D114E |
probably benign |
Het |
Mipol1 |
T |
A |
12: 57,352,829 (GRCm39) |
V56E |
possibly damaging |
Het |
Mycbp2 |
T |
C |
14: 103,442,621 (GRCm39) |
I1927V |
probably benign |
Het |
Ncaph |
A |
T |
2: 126,966,784 (GRCm39) |
N223K |
possibly damaging |
Het |
Nipbl |
A |
G |
15: 8,325,037 (GRCm39) |
M2542T |
probably benign |
Het |
Nolc1 |
C |
A |
19: 46,071,468 (GRCm39) |
|
probably benign |
Het |
Or10j5 |
G |
A |
1: 172,784,743 (GRCm39) |
C127Y |
probably damaging |
Het |
Or51h1 |
A |
G |
7: 102,308,384 (GRCm39) |
M119V |
possibly damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,393,441 (GRCm39) |
|
probably null |
Het |
Ppat |
A |
T |
5: 77,067,316 (GRCm39) |
C306S |
probably benign |
Het |
Ptpn13 |
A |
T |
5: 103,717,320 (GRCm39) |
M1821L |
possibly damaging |
Het |
Rabl3 |
C |
T |
16: 37,362,287 (GRCm39) |
S42L |
probably damaging |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Rfx3 |
G |
A |
19: 27,827,137 (GRCm39) |
H150Y |
possibly damaging |
Het |
Rngtt |
A |
G |
4: 33,356,098 (GRCm39) |
M312V |
possibly damaging |
Het |
Slc10a2 |
T |
A |
8: 5,148,499 (GRCm39) |
T149S |
probably damaging |
Het |
Spata21 |
T |
C |
4: 140,838,576 (GRCm39) |
|
probably benign |
Het |
Stx8 |
G |
T |
11: 67,860,598 (GRCm39) |
W6C |
probably damaging |
Het |
Tcn2 |
T |
C |
11: 3,877,504 (GRCm39) |
E48G |
possibly damaging |
Het |
Tecpr1 |
A |
T |
5: 144,143,364 (GRCm39) |
N670K |
probably benign |
Het |
Tmem255b |
G |
A |
8: 13,507,055 (GRCm39) |
M240I |
probably benign |
Het |
Ubr4 |
G |
A |
4: 139,186,445 (GRCm39) |
E651K |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 38,002,558 (GRCm39) |
T1498A |
probably benign |
Het |
Vmn2r95 |
G |
A |
17: 18,664,116 (GRCm39) |
C445Y |
probably damaging |
Het |
Zfp429 |
T |
A |
13: 67,547,855 (GRCm39) |
|
probably benign |
Het |
Zfp804b |
T |
G |
5: 6,821,392 (GRCm39) |
D557A |
possibly 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 |
|
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 |
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 |
2015-04-16 |