Incidental Mutation 'R1178:Cep128'
| ID |
100177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep128
|
| Ensembl Gene |
ENSMUSG00000061533 |
| Gene Name |
centrosomal protein 128 |
| Synonyms |
5430424K18Rik, 4930534B04Rik |
| MMRRC Submission |
039250-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.286)
|
| Stock # |
R1178 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
90965266-91351183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 91226929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 227
(T227M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000140674]
[ENSMUST00000141429]
[ENSMUST00000143415]
|
| AlphaFold |
Q8BI22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140674
|
| SMART Domains |
Protein: ENSMUSP00000119394
Gene: ENSMUSG00000061533
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
112 |
119 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141429
AA Change: T680M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115679
Gene: ENSMUSG00000061533
AA Change: T680M
| 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 damaging
Transcript: ENSMUST00000143415
AA Change: T227M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122627
Gene: ENSMUSG00000061533
AA Change: T227M
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
2 |
369 |
N/A |
INTRINSIC |
|
coiled coil region
|
423 |
507 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.5%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
T |
13: 81,588,156 (GRCm39) |
|
probably benign |
Het |
| Apcdd1 |
A |
T |
18: 63,070,168 (GRCm39) |
Y145F |
probably damaging |
Het |
| Brinp1 |
C |
T |
4: 68,680,790 (GRCm39) |
G580E |
probably damaging |
Het |
| Cxcr2 |
A |
T |
1: 74,197,527 (GRCm39) |
D7V |
probably benign |
Het |
| Dync2h1 |
C |
T |
9: 7,101,193 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,499,852 (GRCm39) |
Q209R |
possibly damaging |
Het |
| Gabrg3 |
C |
T |
7: 56,384,839 (GRCm39) |
V241I |
probably benign |
Het |
| Gfpt2 |
T |
C |
11: 49,714,136 (GRCm39) |
S298P |
probably benign |
Het |
| Gm6797 |
T |
A |
X: 8,508,004 (GRCm39) |
|
noncoding transcript |
Het |
| Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,120,698 (GRCm39) |
L742P |
probably damaging |
Het |
| Hgd |
A |
G |
16: 37,435,756 (GRCm39) |
I115V |
possibly damaging |
Het |
| Hmgcll1 |
A |
T |
9: 76,037,613 (GRCm39) |
D169V |
probably damaging |
Het |
| Ifi202b |
A |
T |
1: 173,799,788 (GRCm39) |
I231K |
probably benign |
Het |
| Itpripl1 |
A |
G |
2: 126,983,819 (GRCm39) |
I101T |
probably benign |
Het |
| Kcnj9 |
A |
G |
1: 172,150,530 (GRCm39) |
V361A |
probably benign |
Het |
| Map4k5 |
G |
A |
12: 69,863,152 (GRCm39) |
T567M |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,952,717 (GRCm39) |
D82G |
probably benign |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
| Or8d2b |
A |
G |
9: 38,789,051 (GRCm39) |
E193G |
probably damaging |
Het |
| Or8g50 |
A |
G |
9: 39,648,642 (GRCm39) |
Y177C |
probably damaging |
Het |
| Pfn2 |
C |
T |
3: 57,752,766 (GRCm39) |
V3I |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,655,381 (GRCm39) |
|
probably null |
Het |
| Plekha2 |
A |
C |
8: 25,549,218 (GRCm39) |
S189A |
probably benign |
Het |
| Prune2 |
T |
C |
19: 17,100,469 (GRCm39) |
V1991A |
probably benign |
Het |
| Psg17 |
T |
C |
7: 18,548,380 (GRCm39) |
T464A |
probably benign |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rab8b |
A |
G |
9: 66,760,249 (GRCm39) |
M125T |
possibly damaging |
Het |
| Rbl1 |
T |
A |
2: 156,989,575 (GRCm39) |
M1015L |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,794,725 (GRCm39) |
Q149L |
probably benign |
Het |
| Scn2a |
C |
A |
2: 65,517,123 (GRCm39) |
|
probably benign |
Het |
| Sec61g |
A |
C |
11: 16,454,722 (GRCm39) |
|
probably benign |
Het |
| Smcr8 |
G |
A |
11: 60,670,358 (GRCm39) |
R502H |
probably damaging |
Het |
| Spag16 |
G |
A |
1: 69,962,817 (GRCm39) |
|
probably benign |
Het |
| Spink13 |
A |
G |
18: 62,741,241 (GRCm39) |
|
probably benign |
Het |
| Stk25 |
T |
C |
1: 93,551,111 (GRCm39) |
|
probably benign |
Het |
| Syngap1 |
A |
G |
17: 27,176,779 (GRCm39) |
N314D |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,692,524 (GRCm39) |
C160R |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tll2 |
T |
G |
19: 41,081,286 (GRCm39) |
D712A |
probably damaging |
Het |
| Tmprss13 |
A |
T |
9: 45,239,945 (GRCm39) |
R84S |
unknown |
Het |
| Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,756,510 (GRCm39) |
K706* |
probably null |
Het |
| Upk2 |
A |
T |
9: 44,365,470 (GRCm39) |
S33T |
probably benign |
Het |
| Usp47 |
T |
G |
7: 111,709,205 (GRCm39) |
M1317R |
possibly damaging |
Het |
| Wdr19 |
T |
C |
5: 65,381,208 (GRCm39) |
Y411H |
probably damaging |
Het |
| Zfp143 |
C |
T |
7: 109,674,928 (GRCm39) |
|
probably benign |
Het |
| Zfp473 |
T |
C |
7: 44,384,018 (GRCm39) |
D105G |
probably benign |
Het |
| Zfp474 |
C |
T |
18: 52,771,814 (GRCm39) |
Q156* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation