Incidental Mutation 'R1541:Cep128'
| ID |
171752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep128
|
| Ensembl Gene |
ENSMUSG00000061533 |
| Gene Name |
centrosomal protein 128 |
| Synonyms |
5430424K18Rik, 4930534B04Rik |
| MMRRC Submission |
039580-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
R1541 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
90965266-91351183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 91315555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 110
(S110R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000141429]
|
| AlphaFold |
Q8BI22 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127802
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127866
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129111
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141429
AA Change: S110R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115679
Gene: ENSMUSG00000061533
AA Change: S110R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
A |
G |
14: 103,286,769 (GRCm39) |
D24G |
probably damaging |
Het |
| Angptl2 |
G |
A |
2: 33,136,177 (GRCm39) |
R454H |
probably benign |
Het |
| Atat1 |
T |
A |
17: 36,215,223 (GRCm39) |
N181I |
probably damaging |
Het |
| Atp6v0d2 |
A |
C |
4: 19,910,645 (GRCm39) |
F82V |
probably damaging |
Het |
| Calhm4 |
T |
C |
10: 33,917,659 (GRCm39) |
H264R |
probably benign |
Het |
| Casp3 |
A |
G |
8: 47,087,369 (GRCm39) |
I105M |
probably benign |
Het |
| Ccdc33 |
T |
A |
9: 58,024,749 (GRCm39) |
D159V |
probably damaging |
Het |
| Cd163 |
A |
C |
6: 124,304,920 (GRCm39) |
D1099A |
probably benign |
Het |
| Cfap43 |
A |
T |
19: 47,752,291 (GRCm39) |
|
probably null |
Het |
| Cfap58 |
T |
C |
19: 47,971,969 (GRCm39) |
I633T |
probably damaging |
Het |
| Clvs1 |
A |
G |
4: 9,281,814 (GRCm39) |
H86R |
probably benign |
Het |
| Comt |
T |
C |
16: 18,230,565 (GRCm39) |
K48R |
probably benign |
Het |
| Crip2 |
T |
C |
12: 113,108,586 (GRCm39) |
V64A |
possibly damaging |
Het |
| Cstdc5 |
T |
A |
16: 36,187,863 (GRCm39) |
M1L |
probably damaging |
Het |
| Cwf19l2 |
T |
A |
9: 3,456,760 (GRCm39) |
S698T |
probably damaging |
Het |
| Dis3l |
T |
C |
9: 64,214,771 (GRCm39) |
I933V |
probably benign |
Het |
| Dnah8 |
C |
A |
17: 30,966,221 (GRCm39) |
N2470K |
probably damaging |
Het |
| Dstn |
T |
C |
2: 143,780,408 (GRCm39) |
V36A |
possibly damaging |
Het |
| Dtx1 |
T |
A |
5: 120,848,411 (GRCm39) |
|
probably benign |
Het |
| Dzip1 |
G |
A |
14: 119,116,890 (GRCm39) |
S782L |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,675,971 (GRCm39) |
|
probably null |
Het |
| Erich1 |
A |
G |
8: 14,080,688 (GRCm39) |
I277T |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,266,275 (GRCm39) |
M589L |
probably benign |
Het |
| Grip1 |
T |
C |
10: 119,836,448 (GRCm39) |
I440T |
probably damaging |
Het |
| Helz |
C |
T |
11: 107,560,874 (GRCm39) |
S1311L |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,785,405 (GRCm39) |
I1552F |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,962,689 (GRCm39) |
T459A |
probably benign |
Het |
| Knop1 |
G |
A |
7: 118,455,009 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
C |
A |
11: 115,743,947 (GRCm39) |
T758K |
probably benign |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Lrrc71 |
T |
C |
3: 87,649,148 (GRCm39) |
D340G |
possibly damaging |
Het |
| Luzp1 |
A |
G |
4: 136,270,636 (GRCm39) |
D953G |
probably damaging |
Het |
| Mst1r |
T |
C |
9: 107,794,562 (GRCm39) |
V1247A |
probably damaging |
Het |
| Ncoa4 |
A |
T |
14: 31,898,845 (GRCm39) |
K555M |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,257,224 (GRCm39) |
L773Q |
probably benign |
Het |
| Ndc1 |
C |
T |
4: 107,228,485 (GRCm39) |
Q70* |
probably null |
Het |
| Nfe2l3 |
C |
T |
6: 51,434,585 (GRCm39) |
L382F |
probably damaging |
Het |
| Nlrp4b |
C |
A |
7: 10,458,979 (GRCm39) |
T399N |
possibly damaging |
Het |
| Nsmce2 |
T |
A |
15: 59,473,234 (GRCm39) |
D250E |
probably damaging |
Het |
| Nudt14 |
A |
T |
12: 112,898,548 (GRCm39) |
L184Q |
probably damaging |
Het |
| Ogdhl |
G |
A |
14: 32,062,624 (GRCm39) |
R570H |
possibly damaging |
Het |
| Or5p56 |
T |
C |
7: 107,590,048 (GRCm39) |
F159L |
probably benign |
Het |
| Pira13 |
T |
C |
7: 3,819,988 (GRCm39) |
D525G |
probably damaging |
Het |
| Plag1 |
A |
G |
4: 3,904,085 (GRCm39) |
S369P |
probably benign |
Het |
| Ranbp2 |
A |
T |
10: 58,318,916 (GRCm39) |
T2476S |
possibly damaging |
Het |
| Rnmt |
T |
C |
18: 68,440,853 (GRCm39) |
L172P |
probably damaging |
Het |
| Sec24a |
T |
A |
11: 51,634,623 (GRCm39) |
H101L |
probably benign |
Het |
| Sirpd |
T |
A |
3: 15,385,744 (GRCm39) |
T53S |
possibly damaging |
Het |
| Srm |
A |
G |
4: 148,677,881 (GRCm39) |
D173G |
probably damaging |
Het |
| Srp54b |
A |
G |
12: 55,302,844 (GRCm39) |
D380G |
probably benign |
Het |
| Svs5 |
C |
T |
2: 164,078,929 (GRCm39) |
R326Q |
possibly damaging |
Het |
| Tent4b |
T |
C |
8: 88,972,227 (GRCm39) |
V222A |
probably damaging |
Het |
| Tfap2b |
C |
T |
1: 19,304,294 (GRCm39) |
T350M |
probably damaging |
Het |
| Tie1 |
A |
T |
4: 118,341,070 (GRCm39) |
C304S |
probably damaging |
Het |
| Tsc2 |
G |
T |
17: 24,850,950 (GRCm39) |
T36N |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,505,649 (GRCm39) |
Y274* |
probably null |
Het |
| Wdr37 |
T |
C |
13: 8,870,574 (GRCm39) |
T373A |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,342,634 (GRCm39) |
N1625I |
possibly damaging |
Het |
| Ythdf1 |
A |
C |
2: 180,560,936 (GRCm39) |
S35A |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,008,928 (GRCm39) |
N298S |
possibly damaging |
Het |
| Zfp541 |
T |
A |
7: 15,812,437 (GRCm39) |
D363E |
probably benign |
Het |
| Zgpat |
A |
G |
2: 181,020,658 (GRCm39) |
D277G |
probably benign |
Het |
| Znfx1 |
A |
T |
2: 166,898,110 (GRCm39) |
N271K |
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 |
|
|
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 |
|
R6831:Cep128
|
UTSW |
12 |
91,233,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- TGTTCCGAAGCTTGGACAGCTC -3'
(R):5'- TCATTTCAGTGTAGTTTGCCAGCCC -3'
Sequencing Primer
(F):5'- GCTCCAGGCAGTACACAGAG -3'
(R):5'- TGCCAGCCCTTAAATAAGGTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation