Incidental Mutation 'IGL00958:Cep295nl'
| ID |
28594 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep295nl
|
| Ensembl Gene |
ENSMUSG00000076433 |
| Gene Name |
CEP295 N-terminal like |
| Synonyms |
Ddc8, BC100451 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00958
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
118223186-118233326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118224730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 38
(T38I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017610]
[ENSMUST00000103024]
[ENSMUST00000155707]
[ENSMUST00000168100]
|
| AlphaFold |
Q497N6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017610
|
| SMART Domains |
Protein: ENSMUSP00000017610
Gene: ENSMUSG00000017466
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
26 |
N/A |
INTRINSIC |
|
NTR
|
27 |
203 |
1.05e-135 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103024
AA Change: T38I
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099313
Gene: ENSMUSG00000076433
AA Change: T38I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
43 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
468 |
N/A |
INTRINSIC |
|
coiled coil region
|
495 |
524 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155707
|
| SMART Domains |
Protein: ENSMUSP00000122642
Gene: ENSMUSG00000017466
| Domain | Start | End | E-Value | Type |
|---|
|
NTR
|
1 |
126 |
1.48e-71 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168100
AA Change: T38I
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128122
Gene: ENSMUSG00000076433
AA Change: T38I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
43 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
468 |
N/A |
INTRINSIC |
|
coiled coil region
|
495 |
524 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
G |
T |
10: 29,103,324 (GRCm39) |
R635M |
probably benign |
Het |
| Arhgef19 |
T |
C |
4: 140,976,294 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
T |
C |
3: 100,911,018 (GRCm39) |
D880G |
probably damaging |
Het |
| Cdk5rap3 |
T |
C |
11: 96,800,793 (GRCm39) |
N348D |
probably benign |
Het |
| Col3a1 |
T |
G |
1: 45,366,755 (GRCm39) |
S232A |
unknown |
Het |
| Ddx1 |
T |
C |
12: 13,290,849 (GRCm39) |
|
probably null |
Het |
| Gckr |
A |
T |
5: 31,456,129 (GRCm39) |
|
probably null |
Het |
| Gm5800 |
A |
G |
14: 51,951,269 (GRCm39) |
L110P |
possibly damaging |
Het |
| H2ac25 |
G |
T |
11: 58,845,766 (GRCm39) |
G68V |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Mfap3l |
A |
G |
8: 61,124,516 (GRCm39) |
I253V |
probably benign |
Het |
| Or10q1b |
G |
A |
19: 13,683,096 (GRCm39) |
V302I |
probably benign |
Het |
| Or13a28 |
T |
A |
7: 140,218,169 (GRCm39) |
L185H |
probably damaging |
Het |
| Or1j10 |
A |
G |
2: 36,266,928 (GRCm39) |
I47V |
probably damaging |
Het |
| Or4k42 |
A |
G |
2: 111,319,565 (GRCm39) |
*313Q |
probably null |
Het |
| Or51a42 |
T |
C |
7: 103,708,620 (GRCm39) |
Y63C |
probably benign |
Het |
| Or8b3b |
A |
G |
9: 38,584,320 (GRCm39) |
V153A |
probably benign |
Het |
| Pias3 |
C |
T |
3: 96,606,738 (GRCm39) |
|
probably benign |
Het |
| Ppox |
A |
G |
1: 171,105,453 (GRCm39) |
|
probably null |
Het |
| Raet1d |
A |
G |
10: 22,246,791 (GRCm39) |
T40A |
possibly damaging |
Het |
| Rcan2 |
G |
A |
17: 44,347,908 (GRCm39) |
V206I |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,270,864 (GRCm39) |
Y288H |
probably damaging |
Het |
| Slc8b1 |
T |
C |
5: 120,671,049 (GRCm39) |
L545P |
probably damaging |
Het |
| Tmem145 |
T |
G |
7: 25,006,782 (GRCm39) |
|
probably null |
Het |
| Trib2 |
T |
C |
12: 15,843,634 (GRCm39) |
E336G |
possibly damaging |
Het |
|
| Other mutations in Cep295nl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02883:Cep295nl
|
APN |
11 |
118,224,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1724:Cep295nl
|
UTSW |
11 |
118,223,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1815:Cep295nl
|
UTSW |
11 |
118,223,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1999:Cep295nl
|
UTSW |
11 |
118,223,915 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2161:Cep295nl
|
UTSW |
11 |
118,223,335 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2198:Cep295nl
|
UTSW |
11 |
118,223,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4871:Cep295nl
|
UTSW |
11 |
118,224,650 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5348:Cep295nl
|
UTSW |
11 |
118,224,425 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5759:Cep295nl
|
UTSW |
11 |
118,224,472 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6379:Cep295nl
|
UTSW |
11 |
118,224,556 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7038:Cep295nl
|
UTSW |
11 |
118,223,815 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7254:Cep295nl
|
UTSW |
11 |
118,223,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7456:Cep295nl
|
UTSW |
11 |
118,224,376 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7494:Cep295nl
|
UTSW |
11 |
118,224,758 (GRCm39) |
missense |
probably benign |
|
|
R8982:Cep295nl
|
UTSW |
11 |
118,224,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9303:Cep295nl
|
UTSW |
11 |
118,224,766 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9305:Cep295nl
|
UTSW |
11 |
118,224,766 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9451:Cep295nl
|
UTSW |
11 |
118,224,446 (GRCm39) |
nonsense |
probably null |
|
|
R9617:Cep295nl
|
UTSW |
11 |
118,224,000 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9621:Cep295nl
|
UTSW |
11 |
118,224,766 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1176:Cep295nl
|
UTSW |
11 |
118,224,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cep295nl
|
UTSW |
11 |
118,223,845 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2013-04-17 |
Incidental Mutation