Incidental Mutation 'R6831:Cep128'
ID |
537866 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep128
|
Ensembl Gene |
ENSMUSG00000061533 |
Gene Name |
centrosomal protein 128 |
Synonyms |
5430424K18Rik, 4930534B04Rik |
MMRRC Submission |
044941-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.286)
|
Stock # |
R6831 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
90965266-91351183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91233748 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 440
(D440G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115679
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000141429]
[ENSMUST00000143415]
|
AlphaFold |
Q8BI22 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000141429
AA Change: D440G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000115679 Gene: ENSMUSG00000061533 AA Change: D440G
Domain | Start | End | E-Value | Type |
low complexity region
|
89 |
110 |
N/A |
INTRINSIC |
coiled coil region
|
216 |
329 |
N/A |
INTRINSIC |
low complexity region
|
340 |
352 |
N/A |
INTRINSIC |
coiled coil region
|
377 |
822 |
N/A |
INTRINSIC |
coiled coil region
|
876 |
960 |
N/A |
INTRINSIC |
low complexity region
|
1091 |
1102 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143415
|
SMART Domains |
Protein: ENSMUSP00000122627 Gene: ENSMUSG00000061533
Domain | Start | End | E-Value | Type |
coiled coil region
|
2 |
369 |
N/A |
INTRINSIC |
coiled coil region
|
423 |
507 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
T |
G |
10: 29,100,675 (GRCm39) |
D349E |
probably benign |
Het |
Adam28 |
C |
T |
14: 68,855,576 (GRCm39) |
A630T |
probably benign |
Het |
Akr1cl |
C |
T |
1: 65,053,831 (GRCm39) |
|
probably null |
Het |
Alcam |
A |
G |
16: 52,130,264 (GRCm39) |
Y29H |
probably benign |
Het |
Alg3 |
A |
T |
16: 20,427,497 (GRCm39) |
S25T |
probably damaging |
Het |
Amdhd1 |
T |
G |
10: 93,363,118 (GRCm39) |
L323F |
probably damaging |
Het |
Apcdd1 |
C |
A |
18: 63,083,197 (GRCm39) |
Y342* |
probably null |
Het |
Aqp9 |
T |
A |
9: 71,069,702 (GRCm39) |
|
probably benign |
Het |
Arhgef5 |
A |
G |
6: 43,257,933 (GRCm39) |
T1326A |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,297,860 (GRCm39) |
V1238A |
probably damaging |
Het |
Dnah5 |
G |
C |
15: 28,411,661 (GRCm39) |
G3677R |
possibly damaging |
Het |
Dst |
T |
A |
1: 34,229,765 (GRCm39) |
C2631S |
probably benign |
Het |
E330034G19Rik |
T |
C |
14: 24,346,163 (GRCm39) |
S25P |
probably benign |
Het |
Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
Fat3 |
C |
A |
9: 16,287,847 (GRCm39) |
V559L |
probably damaging |
Het |
Fra10ac1 |
A |
T |
19: 38,195,737 (GRCm39) |
I162K |
probably benign |
Het |
Glrx3 |
C |
T |
7: 137,060,951 (GRCm39) |
T195M |
possibly damaging |
Het |
Gm9949 |
T |
A |
18: 62,313,616 (GRCm39) |
|
probably benign |
Het |
Hbs1l |
T |
C |
10: 21,217,767 (GRCm39) |
S228P |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,646,044 (GRCm39) |
T718I |
probably benign |
Het |
Igf1r |
T |
C |
7: 67,857,067 (GRCm39) |
S1010P |
possibly damaging |
Het |
Inpp5d |
T |
A |
1: 87,629,198 (GRCm39) |
Y394* |
probably null |
Het |
Itpr2 |
G |
A |
6: 146,013,927 (GRCm39) |
T2623M |
probably damaging |
Het |
Kif21b |
T |
A |
1: 136,072,496 (GRCm39) |
C67* |
probably null |
Het |
Lama1 |
T |
A |
17: 68,063,749 (GRCm39) |
C758S |
possibly damaging |
Het |
Mdga1 |
T |
A |
17: 30,106,490 (GRCm39) |
K274* |
probably null |
Het |
Neu2 |
G |
A |
1: 87,524,455 (GRCm39) |
G147R |
probably damaging |
Het |
Nkx1-1 |
A |
T |
5: 33,591,147 (GRCm39) |
S58R |
unknown |
Het |
Or2ag16 |
A |
T |
7: 106,351,778 (GRCm39) |
N272K |
probably damaging |
Het |
Or52e4 |
A |
G |
7: 104,706,086 (GRCm39) |
D211G |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pacs1 |
T |
A |
19: 5,210,823 (GRCm39) |
I151F |
probably damaging |
Het |
Pamr1 |
C |
T |
2: 102,445,276 (GRCm39) |
R270C |
probably damaging |
Het |
Pclo |
C |
T |
5: 14,838,443 (GRCm39) |
Q1417* |
probably null |
Het |
Pkm |
G |
C |
9: 59,582,398 (GRCm39) |
M409I |
probably benign |
Het |
Plbd2 |
T |
A |
5: 120,631,131 (GRCm39) |
K215N |
probably benign |
Het |
Polk |
T |
C |
13: 96,631,999 (GRCm39) |
K245E |
possibly damaging |
Het |
Pramel17 |
T |
A |
4: 101,694,094 (GRCm39) |
Q263L |
probably benign |
Het |
Prl |
T |
G |
13: 27,243,530 (GRCm39) |
I65S |
probably benign |
Het |
Proser3 |
T |
C |
7: 30,239,781 (GRCm39) |
H441R |
probably benign |
Het |
Psmb3 |
A |
G |
11: 97,597,728 (GRCm39) |
K98R |
probably benign |
Het |
Ptpn20 |
T |
C |
14: 33,354,882 (GRCm39) |
V319A |
probably damaging |
Het |
Ptprj |
A |
T |
2: 90,290,991 (GRCm39) |
Y397N |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,420,087 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
T |
A |
5: 113,428,246 (GRCm39) |
Y314F |
probably damaging |
Het |
Sh3pxd2a |
G |
A |
19: 47,271,532 (GRCm39) |
R244C |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,461,767 (GRCm39) |
V3466M |
possibly damaging |
Het |
Syne2 |
T |
A |
12: 76,013,568 (GRCm39) |
F2921I |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,206,967 (GRCm39) |
M1700K |
probably benign |
Het |
Trmt112 |
T |
A |
19: 6,887,563 (GRCm39) |
L4H |
probably damaging |
Het |
Trmu |
A |
G |
15: 85,779,207 (GRCm39) |
T285A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,601,846 (GRCm39) |
|
probably null |
Het |
Vmn2r-ps158 |
G |
C |
7: 42,673,004 (GRCm39) |
A143P |
probably damaging |
Het |
Zc3hav1 |
A |
T |
6: 38,309,103 (GRCm39) |
M573K |
probably benign |
Het |
Zcchc8 |
T |
C |
5: 123,838,972 (GRCm39) |
E522G |
probably damaging |
Het |
Zfp354a |
T |
C |
11: 50,961,381 (GRCm39) |
S529P |
probably damaging |
Het |
Zfp735 |
G |
A |
11: 73,601,434 (GRCm39) |
G126D |
probably damaging |
Het |
|
Other mutations in Cep128 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00673:Cep128
|
APN |
12 |
91,200,965 (GRCm39) |
missense |
probably benign |
0.17 |
IGL00800:Cep128
|
APN |
12 |
91,222,438 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL01738:Cep128
|
APN |
12 |
91,197,616 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01844:Cep128
|
APN |
12 |
90,975,628 (GRCm39) |
missense |
probably benign |
0.14 |
IGL01918:Cep128
|
APN |
12 |
91,200,984 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02043:Cep128
|
APN |
12 |
91,233,504 (GRCm39) |
splice site |
probably benign |
|
IGL02405:Cep128
|
APN |
12 |
91,233,760 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02616:Cep128
|
APN |
12 |
91,263,032 (GRCm39) |
missense |
probably benign |
0.03 |
PIT4260001:Cep128
|
UTSW |
12 |
91,265,808 (GRCm39) |
missense |
probably benign |
0.00 |
R0416:Cep128
|
UTSW |
12 |
91,197,641 (GRCm39) |
splice site |
probably benign |
|
R0442:Cep128
|
UTSW |
12 |
91,233,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R0608:Cep128
|
UTSW |
12 |
90,966,309 (GRCm39) |
utr 3 prime |
probably benign |
|
R1108:Cep128
|
UTSW |
12 |
91,305,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R1178:Cep128
|
UTSW |
12 |
91,226,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R1183:Cep128
|
UTSW |
12 |
91,292,372 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1394:Cep128
|
UTSW |
12 |
91,233,754 (GRCm39) |
missense |
probably benign |
0.07 |
R1395:Cep128
|
UTSW |
12 |
91,233,754 (GRCm39) |
missense |
probably benign |
0.07 |
R1498:Cep128
|
UTSW |
12 |
91,333,191 (GRCm39) |
missense |
probably benign |
|
R1541:Cep128
|
UTSW |
12 |
91,315,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R1639:Cep128
|
UTSW |
12 |
91,333,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R1643:Cep128
|
UTSW |
12 |
91,292,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R1682:Cep128
|
UTSW |
12 |
91,197,596 (GRCm39) |
missense |
probably damaging |
0.99 |
R1739:Cep128
|
UTSW |
12 |
90,989,265 (GRCm39) |
splice site |
probably null |
|
R1758:Cep128
|
UTSW |
12 |
91,314,352 (GRCm39) |
missense |
probably benign |
0.02 |
R1845:Cep128
|
UTSW |
12 |
91,256,372 (GRCm39) |
missense |
probably benign |
0.01 |
R1987:Cep128
|
UTSW |
12 |
91,197,603 (GRCm39) |
missense |
probably benign |
0.01 |
R2017:Cep128
|
UTSW |
12 |
91,333,238 (GRCm39) |
missense |
probably damaging |
0.98 |
R2237:Cep128
|
UTSW |
12 |
91,314,341 (GRCm39) |
missense |
probably benign |
0.01 |
R2239:Cep128
|
UTSW |
12 |
91,314,341 (GRCm39) |
missense |
probably benign |
0.01 |
R3103:Cep128
|
UTSW |
12 |
90,986,118 (GRCm39) |
missense |
probably damaging |
0.99 |
R4552:Cep128
|
UTSW |
12 |
91,260,936 (GRCm39) |
missense |
probably damaging |
0.98 |
R4664:Cep128
|
UTSW |
12 |
91,263,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R4774:Cep128
|
UTSW |
12 |
91,200,969 (GRCm39) |
missense |
probably damaging |
0.99 |
R4838:Cep128
|
UTSW |
12 |
90,966,319 (GRCm39) |
utr 3 prime |
probably benign |
|
R4858:Cep128
|
UTSW |
12 |
91,226,936 (GRCm39) |
missense |
probably benign |
0.04 |
R4924:Cep128
|
UTSW |
12 |
90,989,174 (GRCm39) |
splice site |
silent |
|
R5002:Cep128
|
UTSW |
12 |
91,222,497 (GRCm39) |
splice site |
probably null |
|
R5282:Cep128
|
UTSW |
12 |
91,305,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R5386:Cep128
|
UTSW |
12 |
90,966,345 (GRCm39) |
missense |
probably benign |
0.03 |
R5476:Cep128
|
UTSW |
12 |
91,180,392 (GRCm39) |
missense |
probably damaging |
0.96 |
R5643:Cep128
|
UTSW |
12 |
91,315,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R5644:Cep128
|
UTSW |
12 |
91,315,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R5668:Cep128
|
UTSW |
12 |
90,966,410 (GRCm39) |
missense |
probably benign |
0.01 |
R6057:Cep128
|
UTSW |
12 |
91,262,998 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6852:Cep128
|
UTSW |
12 |
91,333,116 (GRCm39) |
critical splice donor site |
probably null |
|
R7078:Cep128
|
UTSW |
12 |
91,200,878 (GRCm39) |
missense |
probably damaging |
0.99 |
R7144:Cep128
|
UTSW |
12 |
91,260,933 (GRCm39) |
missense |
probably damaging |
0.98 |
R7487:Cep128
|
UTSW |
12 |
90,966,404 (GRCm39) |
missense |
probably benign |
0.05 |
R7582:Cep128
|
UTSW |
12 |
91,314,340 (GRCm39) |
missense |
probably damaging |
0.96 |
R7713:Cep128
|
UTSW |
12 |
90,986,096 (GRCm39) |
missense |
probably benign |
0.07 |
R8245:Cep128
|
UTSW |
12 |
90,966,419 (GRCm39) |
missense |
probably benign |
0.03 |
R8893:Cep128
|
UTSW |
12 |
91,263,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R8913:Cep128
|
UTSW |
12 |
91,331,221 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8935:Cep128
|
UTSW |
12 |
91,233,770 (GRCm39) |
missense |
probably damaging |
0.99 |
R8991:Cep128
|
UTSW |
12 |
91,200,987 (GRCm39) |
missense |
probably damaging |
0.97 |
R9168:Cep128
|
UTSW |
12 |
91,233,794 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cep128
|
UTSW |
12 |
91,331,145 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cep128
|
UTSW |
12 |
91,256,377 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGGTTTCAGCTTGTTTCTCC -3'
(R):5'- CTCCGTGACAGTTCAGTGTC -3'
Sequencing Primer
(F):5'- ATTGACCGTTCCAACTTCTTATG -3'
(R):5'- ACAGTTCAGTGTCTTAGTTTGCATG -3'
|
Posted On |
2018-10-18 |