Incidental Mutation 'R4929:Cep57l1'
ID |
381097 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep57l1
|
Ensembl Gene |
ENSMUSG00000019813 |
Gene Name |
centrosomal protein 57-like 1 |
Synonyms |
2410017P07Rik, 4930484D11Rik |
MMRRC Submission |
042530-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4929 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
41594836-41685867 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41621910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 2
(D2G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140147
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019951]
[ENSMUST00000105505]
[ENSMUST00000186239]
[ENSMUST00000187143]
[ENSMUST00000190022]
[ENSMUST00000191498]
[ENSMUST00000189770]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019951
AA Change: D2G
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000019951 Gene: ENSMUSG00000019813 AA Change: D2G
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: D2G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101144 Gene: ENSMUSG00000019813 AA Change: D2G
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: ENSMUST00000186239
AA Change: D2G
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000139509 Gene: ENSMUSG00000019813 AA Change: D2G
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: D2G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000140389 Gene: ENSMUSG00000019813 AA Change: D2G
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 |
possibly damaging
Transcript: ENSMUST00000190022
AA Change: D2G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141031 Gene: ENSMUSG00000019813 AA Change: D2G
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 |
possibly damaging
Transcript: ENSMUST00000191498
AA Change: D2G
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000141089 Gene: ENSMUSG00000019813 AA Change: D2G
Domain | Start | End | E-Value | Type |
Pfam:Cep57_CLD
|
50 |
229 |
1.9e-65 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189770
AA Change: D2G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000140147 Gene: ENSMUSG00000019813 AA Change: D2G
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: ENSMUST00000190793
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215667
|
Meta Mutation Damage Score |
0.1310 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
G |
7: 29,273,467 (GRCm39) |
|
noncoding transcript |
Het |
Abcd3 |
A |
T |
3: 121,562,395 (GRCm39) |
|
probably null |
Het |
Adamts12 |
C |
T |
15: 11,259,108 (GRCm39) |
R551C |
probably damaging |
Het |
Adamtsl4 |
A |
G |
3: 95,585,315 (GRCm39) |
C818R |
probably damaging |
Het |
Arfgef3 |
T |
A |
10: 18,506,599 (GRCm39) |
Q842L |
probably benign |
Het |
Aurka |
A |
T |
2: 172,212,326 (GRCm39) |
V17E |
probably benign |
Het |
Cdh24 |
C |
T |
14: 54,870,973 (GRCm39) |
V132I |
probably benign |
Het |
Cntn5 |
T |
A |
9: 9,976,400 (GRCm39) |
|
probably null |
Het |
Col10a1 |
T |
C |
10: 34,271,120 (GRCm39) |
I364T |
probably benign |
Het |
Dpp6 |
G |
A |
5: 27,254,785 (GRCm39) |
A67T |
probably benign |
Het |
Dym |
T |
A |
18: 75,376,357 (GRCm39) |
V583E |
probably damaging |
Het |
Efcab5 |
T |
G |
11: 76,994,209 (GRCm39) |
K1259N |
probably benign |
Het |
Ehbp1 |
T |
G |
11: 22,189,169 (GRCm39) |
I78L |
possibly damaging |
Het |
Epha1 |
C |
A |
6: 42,341,533 (GRCm39) |
A469S |
probably benign |
Het |
Fam135a |
T |
C |
1: 24,069,081 (GRCm39) |
D596G |
probably benign |
Het |
Filip1 |
T |
C |
9: 79,727,029 (GRCm39) |
N530S |
probably benign |
Het |
Gm57858 |
G |
A |
3: 36,089,487 (GRCm39) |
L146F |
probably damaging |
Het |
Grhl2 |
A |
G |
15: 37,361,046 (GRCm39) |
N610S |
probably benign |
Het |
Haus6 |
T |
C |
4: 86,513,670 (GRCm39) |
I331V |
probably benign |
Het |
Ints2 |
G |
T |
11: 86,103,479 (GRCm39) |
N1192K |
possibly damaging |
Het |
Itga5 |
A |
G |
15: 103,261,662 (GRCm39) |
V445A |
probably benign |
Het |
Itga9 |
C |
A |
9: 118,636,317 (GRCm39) |
D82E |
probably damaging |
Het |
Jam2 |
G |
A |
16: 84,619,750 (GRCm39) |
|
probably benign |
Het |
Klhl32 |
T |
A |
4: 24,709,030 (GRCm39) |
I112F |
probably damaging |
Het |
Lepr |
A |
G |
4: 101,672,314 (GRCm39) |
I1113V |
probably benign |
Het |
Lrrc3b |
C |
A |
14: 15,357,888 (GRCm38) |
L239F |
probably damaging |
Het |
Lzic |
T |
A |
4: 149,572,585 (GRCm39) |
|
probably null |
Het |
Mxra8 |
T |
A |
4: 155,927,118 (GRCm39) |
F351I |
probably damaging |
Het |
Naa40 |
A |
G |
19: 7,207,347 (GRCm39) |
F126L |
probably damaging |
Het |
Nbeal1 |
C |
T |
1: 60,277,813 (GRCm39) |
S733F |
probably damaging |
Het |
Olr1 |
T |
C |
6: 129,477,044 (GRCm39) |
T74A |
probably damaging |
Het |
Or52x1 |
A |
G |
7: 104,853,232 (GRCm39) |
I106T |
probably damaging |
Het |
Or5aq7 |
A |
G |
2: 86,938,527 (GRCm39) |
F68S |
possibly damaging |
Het |
Or5h17 |
A |
C |
16: 58,820,582 (GRCm39) |
Y178S |
probably damaging |
Het |
Pgam5 |
A |
T |
5: 110,413,691 (GRCm39) |
V130D |
probably damaging |
Het |
Pop4 |
A |
G |
7: 37,965,573 (GRCm39) |
C115R |
probably damaging |
Het |
Prpf18 |
A |
T |
2: 4,629,348 (GRCm39) |
|
probably null |
Het |
Psg16 |
G |
A |
7: 16,829,031 (GRCm39) |
R205H |
possibly damaging |
Het |
Ptgr1 |
C |
A |
4: 58,981,879 (GRCm39) |
A53S |
probably benign |
Het |
Shank2 |
A |
G |
7: 143,965,008 (GRCm39) |
D1451G |
probably benign |
Het |
Slfn10-ps |
A |
G |
11: 82,920,345 (GRCm39) |
|
noncoding transcript |
Het |
Sox8 |
G |
A |
17: 25,789,330 (GRCm39) |
A56V |
probably benign |
Het |
Ssr3 |
A |
G |
3: 65,295,175 (GRCm39) |
S113P |
probably damaging |
Het |
Stx16 |
T |
C |
2: 173,938,721 (GRCm39) |
Y296H |
possibly damaging |
Het |
Tfcp2 |
A |
T |
15: 100,426,370 (GRCm39) |
N60K |
probably benign |
Het |
Thada |
T |
C |
17: 84,751,654 (GRCm39) |
T441A |
probably benign |
Het |
Trf |
G |
T |
9: 103,105,074 (GRCm39) |
|
probably benign |
Het |
Vamp2 |
T |
A |
11: 68,979,488 (GRCm39) |
|
probably benign |
Het |
Vmn2r105 |
A |
T |
17: 20,448,280 (GRCm39) |
D181E |
probably benign |
Het |
Vmn2r12 |
A |
T |
5: 109,239,544 (GRCm39) |
Y340N |
probably damaging |
Het |
Wasf2 |
C |
A |
4: 132,923,170 (GRCm39) |
D493E |
unknown |
Het |
Wdfy4 |
T |
C |
14: 32,769,213 (GRCm39) |
D2084G |
possibly damaging |
Het |
Zfp229 |
T |
A |
17: 21,965,354 (GRCm39) |
I528N |
probably damaging |
Het |
Zfp703 |
T |
A |
8: 27,468,879 (GRCm39) |
V181E |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGGTACTTCCATGCCATGC -3'
(R):5'- TGCTTACACAACAAATAGCTGC -3'
Sequencing Primer
(F):5'- CCGCTCCTGACTTTCTGTAAAG -3'
(R):5'- GCTGCTTTATTACTGCTGAGTTTAAC -3'
|
Posted On |
2016-04-15 |