Incidental Mutation 'IGL01830:Cep57l1'
| ID |
154769 |
| 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 # |
IGL01830
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
41594836-41685867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41604649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 160
(C160Y)
|
| 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: C236Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813
AA Change: C236Y
| 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 |
probably benign
Transcript: ENSMUST00000186239
AA Change: C236Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813
AA Change: C236Y
| 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: ENSMUST00000187935
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188463
|
| 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
AA Change: C160Y
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000141031
Gene: ENSMUSG00000019813
AA Change: C160Y
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsg |
C |
A |
16: 22,717,779 (GRCm39) |
P252Q |
probably damaging |
Het |
| Anks4b |
T |
A |
7: 119,773,219 (GRCm39) |
N26K |
probably damaging |
Het |
| Arrdc5 |
C |
T |
17: 56,601,652 (GRCm39) |
V158I |
probably damaging |
Het |
| Catsper2 |
T |
C |
2: 121,237,843 (GRCm39) |
D179G |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,672,603 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
T |
A |
7: 16,888,925 (GRCm39) |
D231E |
possibly damaging |
Het |
| Chek2 |
T |
A |
5: 111,021,374 (GRCm39) |
L528Q |
probably benign |
Het |
| Ciita |
T |
C |
16: 10,338,915 (GRCm39) |
L973P |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,582,744 (GRCm39) |
L637* |
probably null |
Het |
| Fsip2 |
A |
C |
2: 82,815,273 (GRCm39) |
I3669L |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,578,968 (GRCm39) |
V1218A |
probably benign |
Het |
| Gip |
T |
C |
11: 95,919,550 (GRCm39) |
L91S |
possibly damaging |
Het |
| Gp2 |
T |
C |
7: 119,050,765 (GRCm39) |
D322G |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,442,636 (GRCm39) |
V177A |
probably damaging |
Het |
| Kng2 |
T |
C |
16: 22,806,801 (GRCm39) |
D466G |
probably damaging |
Het |
| Lpar5 |
G |
A |
6: 125,058,785 (GRCm39) |
A169T |
probably benign |
Het |
| Med13 |
C |
T |
11: 86,179,754 (GRCm39) |
|
probably benign |
Het |
| Meiob |
T |
A |
17: 25,054,105 (GRCm39) |
C391S |
probably benign |
Het |
| Mgat5 |
A |
G |
1: 127,339,869 (GRCm39) |
T417A |
probably damaging |
Het |
| Myo1b |
A |
T |
1: 51,836,624 (GRCm39) |
L279* |
probably null |
Het |
| Myo1g |
T |
A |
11: 6,464,522 (GRCm39) |
K513* |
probably null |
Het |
| Nxpe2 |
A |
T |
9: 48,237,794 (GRCm39) |
S154T |
probably damaging |
Het |
| Ogn |
C |
T |
13: 49,762,723 (GRCm39) |
Q22* |
probably null |
Het |
| Or4c12 |
A |
G |
2: 89,773,775 (GRCm39) |
L228S |
probably benign |
Het |
| Pacs2 |
A |
T |
12: 113,020,574 (GRCm39) |
K316* |
probably null |
Het |
| Pelo |
T |
A |
13: 115,225,131 (GRCm39) |
I365F |
probably damaging |
Het |
| Phf3 |
G |
A |
1: 30,853,148 (GRCm39) |
Q1021* |
probably null |
Het |
| Pik3r4 |
A |
G |
9: 105,522,154 (GRCm39) |
D240G |
probably damaging |
Het |
| Pknox1 |
T |
C |
17: 31,814,284 (GRCm39) |
M203T |
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,102,153 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
G |
T |
5: 130,240,907 (GRCm39) |
C342F |
possibly damaging |
Het |
| Rbm19 |
A |
C |
5: 120,262,760 (GRCm39) |
K307T |
possibly damaging |
Het |
| Sdcbp2 |
T |
A |
2: 151,431,494 (GRCm39) |
I289N |
probably damaging |
Het |
| Slc5a12 |
G |
A |
2: 110,428,151 (GRCm39) |
G69R |
probably damaging |
Het |
| Spag1 |
C |
A |
15: 36,221,705 (GRCm39) |
S599R |
probably benign |
Het |
| Ubr4 |
A |
T |
4: 139,199,811 (GRCm39) |
D4565V |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
| Vmn1r225 |
T |
C |
17: 20,722,717 (GRCm39) |
S53P |
probably damaging |
Het |
| Xrcc1 |
T |
A |
7: 24,272,767 (GRCm39) |
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation