Incidental Mutation 'R9289:Cep57l1'
| ID |
704151 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep57l1
|
| Ensembl Gene |
ENSMUSG00000019813 |
| Gene Name |
centrosomal protein 57-like 1 |
| Synonyms |
2410017P07Rik, 4930484D11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9289 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41594836-41685867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41607082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 160
(D160E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139509
(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: D160E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000019951
Gene: ENSMUSG00000019813
AA Change: D160E
| 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: D160E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101144
Gene: ENSMUSG00000019813
AA Change: D160E
| 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: D160E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139509
Gene: ENSMUSG00000019813
AA Change: D160E
| 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: D160E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140389
Gene: ENSMUSG00000019813
AA Change: D160E
| 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: ENSMUST00000189770
AA Change: D160E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140147
Gene: ENSMUSG00000019813
AA Change: D160E
| 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: D84E
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141031
Gene: ENSMUSG00000019813
AA Change: D84E
| 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: D160E
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141089
Gene: ENSMUSG00000019813
AA Change: D160E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cep57_CLD
|
50 |
229 |
1.9e-65 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
C |
T |
5: 144,982,333 (GRCm39) |
T306I |
probably benign |
Het |
| Aurkb |
T |
C |
11: 68,941,175 (GRCm39) |
I250T |
probably damaging |
Het |
| C1qtnf1 |
A |
G |
11: 118,334,672 (GRCm39) |
T51A |
probably benign |
Het |
| C1rb |
G |
T |
6: 124,552,272 (GRCm39) |
R330L |
possibly damaging |
Het |
| Cd8b1 |
G |
A |
6: 71,306,777 (GRCm39) |
|
probably null |
Het |
| Ces1f |
C |
T |
8: 93,992,491 (GRCm39) |
S320N |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,656,936 (GRCm39) |
S3039P |
possibly damaging |
Het |
| Chia1 |
A |
T |
3: 106,022,502 (GRCm39) |
|
probably benign |
Het |
| Chka |
T |
G |
19: 3,935,953 (GRCm39) |
F220V |
possibly damaging |
Het |
| Cmtm2b |
A |
G |
8: 105,048,980 (GRCm39) |
|
probably benign |
Het |
| Dgcr8 |
C |
T |
16: 18,098,079 (GRCm39) |
|
probably benign |
Het |
| Dhx30 |
T |
C |
9: 109,920,603 (GRCm39) |
T304A |
possibly damaging |
Het |
| Dhx30 |
A |
T |
9: 109,922,189 (GRCm39) |
D164E |
probably benign |
Het |
| Dip2b |
A |
T |
15: 100,071,152 (GRCm39) |
K661I |
probably damaging |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Dop1b |
T |
A |
16: 93,568,681 (GRCm39) |
L1581H |
probably damaging |
Het |
| Fam219a |
C |
A |
4: 41,521,942 (GRCm39) |
G46V |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,490,766 (GRCm39) |
V1028M |
probably damaging |
Het |
| Glb1 |
C |
A |
9: 114,249,558 (GRCm39) |
A129E |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,447,608 (GRCm39) |
V1767A |
probably benign |
Het |
| Ift88 |
T |
A |
14: 57,718,199 (GRCm39) |
S591T |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,885,187 (GRCm39) |
K1023R |
probably benign |
Het |
| Mfng |
C |
A |
15: 78,643,457 (GRCm39) |
S250I |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,796,800 (GRCm39) |
T723A |
probably benign |
Het |
| Mzf1 |
T |
A |
7: 12,785,534 (GRCm39) |
H299L |
probably benign |
Het |
| Naa40 |
T |
C |
19: 7,211,485 (GRCm39) |
K47E |
possibly damaging |
Het |
| Ncdn |
A |
C |
4: 126,643,903 (GRCm39) |
F306L |
possibly damaging |
Het |
| Notch3 |
A |
G |
17: 32,377,254 (GRCm39) |
C246R |
probably damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,168,355 (GRCm39) |
Y945* |
probably null |
Het |
| Or2av9 |
T |
A |
11: 58,380,745 (GRCm39) |
I279L |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or2y14 |
C |
T |
11: 49,404,635 (GRCm39) |
P57S |
probably damaging |
Het |
| Or52n5 |
T |
C |
7: 104,587,816 (GRCm39) |
W28R |
probably damaging |
Het |
| Pcnx1 |
C |
A |
12: 82,028,853 (GRCm39) |
D1044E |
|
Het |
| Pgm2l1 |
T |
A |
7: 99,919,629 (GRCm39) |
I575K |
probably damaging |
Het |
| Plat |
T |
C |
8: 23,272,100 (GRCm39) |
I553T |
probably damaging |
Het |
| Prrc2c |
A |
G |
1: 162,507,130 (GRCm39) |
V2513A |
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,617,593 (GRCm39) |
V983E |
possibly damaging |
Het |
| Ring1 |
A |
G |
17: 34,241,547 (GRCm39) |
S190P |
possibly damaging |
Het |
| Rnf150 |
A |
G |
8: 83,716,982 (GRCm39) |
E163G |
probably benign |
Het |
| Scgb2b12 |
T |
C |
7: 32,026,060 (GRCm39) |
H44R |
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,459,792 (GRCm39) |
C513* |
probably null |
Het |
| Shtn1 |
T |
C |
19: 58,998,257 (GRCm39) |
K379E |
probably damaging |
Het |
| Slc52a2 |
G |
T |
15: 76,424,475 (GRCm39) |
V238L |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,744,639 (GRCm39) |
H3171R |
possibly damaging |
Het |
| Tada3 |
A |
G |
6: 113,347,264 (GRCm39) |
V342A |
possibly damaging |
Het |
| Tbc1d20 |
T |
C |
2: 152,153,262 (GRCm39) |
V264A |
probably damaging |
Het |
| Tmco5 |
G |
A |
2: 116,710,745 (GRCm39) |
A22T |
probably benign |
Het |
| Tmem63b |
A |
G |
17: 45,975,697 (GRCm39) |
F549S |
probably benign |
Het |
| Trav16d-dv11 |
T |
C |
14: 53,285,086 (GRCm39) |
F54S |
probably benign |
Het |
| Trim7 |
A |
T |
11: 48,736,281 (GRCm39) |
K5* |
probably null |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Zfp78 |
T |
C |
7: 6,381,367 (GRCm39) |
I139T |
probably benign |
Het |
| Zfp839 |
T |
A |
12: 110,834,878 (GRCm39) |
V711D |
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 |
|
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 |
|
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'- AGTTGGACATGAGCTGCTC -3'
(R):5'- TGTCTGTCACCTCTTACAGTGG -3'
Sequencing Primer
(F):5'- TGGACATGAGCTGCTCTAATC -3'
(R):5'- ACCTCTTACAGTGGCTCCTTAAAAGG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation