Incidental Mutation 'R0882:Cep68'
| ID |
80661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep68
|
| Ensembl Gene |
ENSMUSG00000044066 |
| Gene Name |
centrosomal protein 68 |
| Synonyms |
6030463E10Rik |
| MMRRC Submission |
039049-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R0882 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
20177037-20199424 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20189393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 540
(I540V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050611]
[ENSMUST00000109596]
[ENSMUST00000162811]
|
| AlphaFold |
Q8C0D9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050611
AA Change: I540V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066
AA Change: I540V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
178 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
325 |
N/A |
INTRINSIC |
|
SPEC
|
605 |
706 |
1.28e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109596
AA Change: I540V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105225
Gene: ENSMUSG00000044066
AA Change: I540V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
178 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
325 |
N/A |
INTRINSIC |
|
SCOP:d1quua1
|
594 |
648 |
1e-2 |
SMART |
|
Blast:SPEC
|
605 |
646 |
6e-21 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161218
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162811
AA Change: I540V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125113
Gene: ENSMUSG00000044066
AA Change: I540V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
178 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
325 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Adh1 |
A |
T |
3: 137,992,558 (GRCm39) |
I225F |
possibly damaging |
Het |
| Agap2 |
A |
G |
10: 126,923,319 (GRCm39) |
K691E |
unknown |
Het |
| Alcam |
T |
C |
16: 52,073,573 (GRCm39) |
D564G |
possibly damaging |
Het |
| Apbb2 |
T |
A |
5: 66,557,598 (GRCm39) |
T289S |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Ctla4 |
T |
C |
1: 60,948,397 (GRCm39) |
V23A |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,379,292 (GRCm39) |
D3675E |
probably benign |
Het |
| Fam209 |
G |
T |
2: 172,314,555 (GRCm39) |
V15F |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,942,664 (GRCm39) |
V1236A |
possibly damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,718,904 (GRCm39) |
I38T |
probably damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,615,505 (GRCm39) |
I110T |
probably damaging |
Het |
| Gm4841 |
C |
T |
18: 60,402,852 (GRCm39) |
A414T |
possibly damaging |
Het |
| Gtf3c4 |
A |
T |
2: 28,724,782 (GRCm39) |
Y176N |
probably damaging |
Het |
| H2bc18 |
G |
A |
3: 96,177,060 (GRCm39) |
|
probably null |
Het |
| Igsf9b |
T |
C |
9: 27,230,612 (GRCm39) |
Y264H |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,614,231 (GRCm39) |
N394Y |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,500,605 (GRCm39) |
T3815A |
possibly damaging |
Het |
| Lrwd1 |
T |
C |
5: 136,152,254 (GRCm39) |
|
probably null |
Het |
| Mc3r |
A |
G |
2: 172,091,711 (GRCm39) |
K311R |
probably benign |
Het |
| Myb |
T |
C |
10: 21,032,259 (GRCm39) |
T41A |
possibly damaging |
Het |
| Nfix |
T |
C |
8: 85,454,554 (GRCm39) |
D201G |
probably damaging |
Het |
| Nos1 |
T |
C |
5: 118,085,512 (GRCm39) |
V1280A |
probably damaging |
Het |
| Or51a5 |
A |
C |
7: 102,771,782 (GRCm39) |
S66A |
probably benign |
Het |
| Or8a1b |
T |
C |
9: 37,623,168 (GRCm39) |
M136V |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,178,488 (GRCm39) |
T582A |
probably damaging |
Het |
| Pcdhb12 |
C |
A |
18: 37,570,375 (GRCm39) |
A507E |
probably damaging |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Pkp2 |
C |
A |
16: 16,087,575 (GRCm39) |
A753E |
probably damaging |
Het |
| Plekha3 |
G |
A |
2: 76,513,142 (GRCm39) |
V76I |
possibly damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,567,081 (GRCm39) |
L33P |
probably damaging |
Het |
| Pot1b |
C |
T |
17: 55,973,400 (GRCm39) |
|
probably benign |
Het |
| Prr5l |
T |
C |
2: 101,588,886 (GRCm39) |
E88G |
possibly damaging |
Het |
| Prss57 |
G |
A |
10: 79,621,699 (GRCm39) |
H97Y |
probably damaging |
Het |
| Rttn |
C |
T |
18: 88,991,813 (GRCm39) |
Q131* |
probably null |
Het |
| Scaf11 |
G |
T |
15: 96,316,176 (GRCm39) |
S1129R |
possibly damaging |
Het |
| Slc25a20 |
T |
A |
9: 108,559,189 (GRCm39) |
M185K |
possibly damaging |
Het |
| Sorbs3 |
T |
A |
14: 70,445,021 (GRCm39) |
E19V |
probably damaging |
Het |
| Srgap2 |
A |
T |
1: 131,217,253 (GRCm39) |
C1020S |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,666,875 (GRCm39) |
S466P |
probably benign |
Het |
| Tmem109 |
T |
C |
19: 10,849,205 (GRCm39) |
R217G |
possibly damaging |
Het |
| Trio |
A |
T |
15: 27,732,980 (GRCm39) |
I2967N |
probably damaging |
Het |
| Vars2 |
T |
C |
17: 35,968,191 (GRCm39) |
E899G |
probably benign |
Het |
| Vmn2r109 |
A |
G |
17: 20,774,842 (GRCm39) |
|
probably benign |
Het |
| Vps53 |
A |
G |
11: 75,973,485 (GRCm39) |
F170L |
probably damaging |
Het |
| Zc2hc1a |
G |
A |
3: 7,591,422 (GRCm39) |
S149N |
possibly damaging |
Het |
| Zfp820 |
A |
G |
17: 22,042,817 (GRCm39) |
|
probably benign |
Het |
| Zhx3 |
A |
C |
2: 160,622,629 (GRCm39) |
F513V |
probably damaging |
Het |
|
| Other mutations in Cep68 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01617:Cep68
|
APN |
11 |
20,189,510 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02404:Cep68
|
APN |
11 |
20,190,004 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02441:Cep68
|
APN |
11 |
20,189,186 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02554:Cep68
|
APN |
11 |
20,190,096 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02732:Cep68
|
APN |
11 |
20,186,109 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4366001:Cep68
|
UTSW |
11 |
20,190,007 (GRCm39) |
missense |
probably benign |
0.21 |
|
PIT4418001:Cep68
|
UTSW |
11 |
20,189,731 (GRCm39) |
missense |
probably benign |
|
|
R0399:Cep68
|
UTSW |
11 |
20,180,571 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0792:Cep68
|
UTSW |
11 |
20,190,652 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1163:Cep68
|
UTSW |
11 |
20,190,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1869:Cep68
|
UTSW |
11 |
20,190,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2023:Cep68
|
UTSW |
11 |
20,189,888 (GRCm39) |
missense |
probably benign |
|
|
R2901:Cep68
|
UTSW |
11 |
20,190,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2902:Cep68
|
UTSW |
11 |
20,190,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4292:Cep68
|
UTSW |
11 |
20,190,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4393:Cep68
|
UTSW |
11 |
20,188,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4557:Cep68
|
UTSW |
11 |
20,189,113 (GRCm39) |
intron |
probably benign |
|
|
R4581:Cep68
|
UTSW |
11 |
20,189,333 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4647:Cep68
|
UTSW |
11 |
20,189,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4887:Cep68
|
UTSW |
11 |
20,189,239 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5081:Cep68
|
UTSW |
11 |
20,188,477 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5658:Cep68
|
UTSW |
11 |
20,191,885 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6380:Cep68
|
UTSW |
11 |
20,180,498 (GRCm39) |
missense |
probably benign |
|
|
R7444:Cep68
|
UTSW |
11 |
20,189,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7455:Cep68
|
UTSW |
11 |
20,180,571 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7486:Cep68
|
UTSW |
11 |
20,192,166 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8075:Cep68
|
UTSW |
11 |
20,189,335 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8388:Cep68
|
UTSW |
11 |
20,180,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8407:Cep68
|
UTSW |
11 |
20,190,446 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8501:Cep68
|
UTSW |
11 |
20,189,132 (GRCm39) |
missense |
unknown |
|
|
R8830:Cep68
|
UTSW |
11 |
20,180,418 (GRCm39) |
unclassified |
probably benign |
|
|
R8980:Cep68
|
UTSW |
11 |
20,190,390 (GRCm39) |
missense |
probably benign |
|
|
R9354:Cep68
|
UTSW |
11 |
20,188,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9534:Cep68
|
UTSW |
11 |
20,190,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9597:Cep68
|
UTSW |
11 |
20,188,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9780:Cep68
|
UTSW |
11 |
20,192,142 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACACTGCTGCTGCGTTACCTG -3'
(R):5'- TTGTGAACCTACACACTGGGGCTG -3'
Sequencing Primer
(F):5'- GAACGATACCTCTAATTTGGGGTC -3'
(R):5'- TGCTGAGGAACACAGTTCAC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation