Incidental Mutation 'R9534:Cep68'
| ID |
719616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep68
|
| Ensembl Gene |
ENSMUSG00000044066 |
| Gene Name |
centrosomal protein 68 |
| Synonyms |
6030463E10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R9534 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
20177037-20199424 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20190686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 109
(R109G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050611]
[ENSMUST00000109596]
[ENSMUST00000162811]
|
| AlphaFold |
Q8C0D9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050611
AA Change: R109G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066
AA Change: R109G
| 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: R109G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000105225
Gene: ENSMUSG00000044066
AA Change: R109G
| 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 |
probably benign
Transcript: ENSMUST00000162811
AA Change: R109G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000125113
Gene: ENSMUSG00000044066
AA Change: R109G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
178 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
325 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
C |
A |
19: 4,913,477 (GRCm39) |
Q651H |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,980,976 (GRCm39) |
M753I |
probably benign |
Het |
| Ap1ar |
T |
C |
3: 127,602,364 (GRCm39) |
T225A |
probably damaging |
Het |
| Asic1 |
T |
G |
15: 99,594,397 (GRCm39) |
I281S |
probably benign |
Het |
| Bard1 |
C |
T |
1: 71,114,189 (GRCm39) |
C264Y |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,052,419 (GRCm39) |
T3040A |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cacna1e |
T |
C |
1: 154,320,693 (GRCm39) |
H1354R |
possibly damaging |
Het |
| Cc2d2b |
G |
T |
19: 40,799,068 (GRCm39) |
E860* |
probably null |
Het |
| Cenpn |
T |
A |
8: 117,661,474 (GRCm39) |
L191* |
probably null |
Het |
| Col9a1 |
T |
A |
1: 24,224,250 (GRCm39) |
V144E |
unknown |
Het |
| Coro2a |
T |
C |
4: 46,548,884 (GRCm39) |
T137A |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,807,867 (GRCm39) |
V1667A |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,734,155 (GRCm39) |
D1195G |
possibly damaging |
Het |
| Hspg2 |
G |
A |
4: 137,268,072 (GRCm39) |
V2130I |
probably benign |
Het |
| Ifi214 |
A |
T |
1: 173,354,092 (GRCm39) |
S193T |
probably benign |
Het |
| Iqsec3 |
C |
A |
6: 121,367,077 (GRCm39) |
V724L |
possibly damaging |
Het |
| Lamb2 |
G |
T |
9: 108,365,830 (GRCm39) |
G1445W |
probably damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,205,234 (GRCm39) |
S313T |
possibly damaging |
Het |
| Or1f19 |
A |
T |
16: 3,410,937 (GRCm39) |
I226F |
probably benign |
Het |
| Or4a68 |
A |
C |
2: 89,269,999 (GRCm39) |
V208G |
probably benign |
Het |
| Or5b104 |
T |
C |
19: 13,072,121 (GRCm39) |
E124G |
probably damaging |
Het |
| Pcdh9 |
C |
T |
14: 94,123,656 (GRCm39) |
C838Y |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,108,718 (GRCm39) |
M1245V |
probably benign |
Het |
| Ppp3r1 |
A |
G |
11: 17,132,123 (GRCm39) |
Y7C |
probably benign |
Het |
| Rdx |
C |
T |
9: 51,984,482 (GRCm39) |
R330* |
probably null |
Het |
| Scaf11 |
T |
G |
15: 96,318,209 (GRCm39) |
N452H |
possibly damaging |
Het |
| Scube1 |
A |
G |
15: 83,606,102 (GRCm39) |
Y57H |
probably damaging |
Het |
| Slc35d3 |
T |
C |
10: 19,725,116 (GRCm39) |
T247A |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,849,523 (GRCm39) |
M341L |
probably benign |
Het |
| Smc2 |
T |
A |
4: 52,462,870 (GRCm39) |
M620K |
probably damaging |
Het |
| Smg5 |
T |
A |
3: 88,252,759 (GRCm39) |
S182T |
probably benign |
Het |
| Tdrd6 |
G |
T |
17: 43,936,510 (GRCm39) |
L1513I |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,173,689 (GRCm39) |
Y1524* |
probably null |
Het |
| Tex15 |
A |
G |
8: 34,060,999 (GRCm39) |
N143S |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,583,096 (GRCm39) |
I591T |
possibly damaging |
Het |
| Usp21 |
A |
G |
1: 171,110,942 (GRCm39) |
S435P |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,264,312 (GRCm39) |
Y1748H |
probably damaging |
Het |
| Vmn2r54 |
C |
A |
7: 12,366,093 (GRCm39) |
K280N |
probably benign |
Het |
| Zan |
G |
T |
5: 137,407,945 (GRCm39) |
C3616* |
probably null |
Het |
| Zfp804b |
T |
C |
5: 6,819,115 (GRCm39) |
D1316G |
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 |
|
R0882:Cep68
|
UTSW |
11 |
20,189,393 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- GGCAGAGATGCTTCTGCTAGAAAG -3'
(R):5'- ACCAAGCAGTCGGTTTAACC -3'
Sequencing Primer
(F):5'- TGGGCTCACCGTGGACTTC -3'
(R):5'- GAAGTCTGCTTGGTTTCAAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation