Incidental Mutation 'R5348:Cep295nl'
| ID |
422745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep295nl
|
| Ensembl Gene |
ENSMUSG00000076433 |
| Gene Name |
CEP295 N-terminal like |
| Synonyms |
Ddc8, BC100451 |
| MMRRC Submission |
042927-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5348 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
118223186-118233326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118224425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 140
(R140G)
|
| 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: R140G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099313
Gene: ENSMUSG00000076433
AA Change: R140G
| 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: R140G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128122
Gene: ENSMUSG00000076433
AA Change: R140G
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,978,634 (GRCm39) |
C275S |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,102,295 (GRCm39) |
E1331G |
probably damaging |
Het |
| Cdk12 |
T |
A |
11: 98,095,118 (GRCm39) |
S309T |
probably benign |
Het |
| Chd8 |
A |
G |
14: 52,470,155 (GRCm39) |
V485A |
probably damaging |
Het |
| Chn2 |
A |
G |
6: 54,277,203 (GRCm39) |
I279V |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,004,041 (GRCm39) |
S1032P |
probably damaging |
Het |
| Ddx55 |
T |
A |
5: 124,692,628 (GRCm39) |
M44K |
probably damaging |
Het |
| Dpyd |
T |
A |
3: 118,575,592 (GRCm39) |
H143Q |
probably benign |
Het |
| Fbxo10 |
A |
G |
4: 45,058,934 (GRCm39) |
W268R |
probably damaging |
Het |
| Gmfg |
A |
G |
7: 28,145,819 (GRCm39) |
D86G |
probably benign |
Het |
| Gpd1 |
T |
C |
15: 99,620,021 (GRCm39) |
V273A |
possibly damaging |
Het |
| Grhpr |
T |
C |
4: 44,985,393 (GRCm39) |
I158T |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,378,191 (GRCm39) |
F53L |
possibly damaging |
Het |
| Kctd21 |
A |
G |
7: 96,997,177 (GRCm39) |
I217V |
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,403,718 (GRCm39) |
T614A |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,880,963 (GRCm39) |
D491V |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,116,972 (GRCm39) |
E916G |
probably damaging |
Het |
| Nf1 |
C |
T |
11: 79,455,725 (GRCm39) |
T550I |
probably damaging |
Het |
| Nsd1 |
A |
G |
13: 55,460,147 (GRCm39) |
T2125A |
probably benign |
Het |
| Olfml2b |
A |
G |
1: 170,489,995 (GRCm39) |
E205G |
probably benign |
Het |
| Or8k37 |
A |
T |
2: 86,469,150 (GRCm39) |
L301I |
probably benign |
Het |
| Papolb |
T |
C |
5: 142,514,972 (GRCm39) |
T224A |
possibly damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,545,495 (GRCm39) |
E1172G |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,675,317 (GRCm39) |
L362S |
possibly damaging |
Het |
| Ppp1r9b |
T |
A |
11: 94,887,438 (GRCm39) |
Y59* |
probably null |
Het |
| Pramel12 |
T |
C |
4: 143,143,351 (GRCm39) |
L39P |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,652,346 (GRCm39) |
S76R |
probably benign |
Het |
| Rnh1 |
A |
T |
7: 140,743,321 (GRCm39) |
V218D |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Slc4a7 |
G |
T |
14: 14,786,310 (GRCm38) |
V999L |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,770,254 (GRCm39) |
I270N |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,881,765 (GRCm39) |
Y498C |
probably damaging |
Het |
| Tfip11 |
A |
G |
5: 112,483,534 (GRCm39) |
S650G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,608,638 (GRCm39) |
T17793A |
possibly damaging |
Het |
| Ulk2 |
T |
C |
11: 61,674,439 (GRCm39) |
T856A |
probably benign |
Het |
| Vps13d |
C |
T |
4: 144,792,459 (GRCm39) |
G3726E |
probably damaging |
Het |
|
| Other mutations in Cep295nl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00958:Cep295nl
|
APN |
11 |
118,224,730 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCCATGCAGTCAGTGTC -3'
(R):5'- CCTGGCTGAGGAGTTAAAGG -3'
Sequencing Primer
(F):5'- TGCAGTCAGTGTCTCCATCAAAG -3'
(R):5'- ACCTGTTGGACGAGGCAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation