Incidental Mutation 'PIT4260001:Cep128'
| ID |
554511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep128
|
| Ensembl Gene |
ENSMUSG00000061533 |
| Gene Name |
centrosomal protein 128 |
| Synonyms |
5430424K18Rik, 4930534B04Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.286)
|
| Stock # |
PIT4260001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
90965266-91351183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91265808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 268
(V268A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000141429]
|
| AlphaFold |
Q8BI22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141429
AA Change: V268A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000115679
Gene: ENSMUSG00000061533
AA Change: V268A
| 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: 92.7%
- 3x: 90.5%
- 10x: 84.8%
- 20x: 72.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
A |
T |
18: 38,129,948 (GRCm39) |
L71Q |
probably benign |
Het |
| Atp10a |
A |
T |
7: 58,440,866 (GRCm39) |
K504* |
probably null |
Het |
| AW551984 |
T |
C |
9: 39,504,275 (GRCm39) |
T564A |
probably benign |
Het |
| Clgn |
T |
C |
8: 84,149,753 (GRCm39) |
M418T |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,558,662 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
A |
T |
1: 82,660,482 (GRCm39) |
E933D |
unknown |
Het |
| Csmd1 |
A |
T |
8: 16,120,327 (GRCm39) |
L1826Q |
probably damaging |
Het |
| Enpp2 |
C |
T |
15: 54,707,774 (GRCm39) |
|
probably null |
Het |
| Ep400 |
G |
A |
5: 110,841,037 (GRCm39) |
R1832* |
probably null |
Het |
| Exoc5 |
T |
C |
14: 49,286,222 (GRCm39) |
K135R |
probably benign |
Het |
| Fam83h |
A |
G |
15: 75,873,746 (GRCm39) |
F1197S |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,939,623 (GRCm39) |
I170V |
probably benign |
Het |
| Gigyf2 |
C |
T |
1: 87,346,828 (GRCm39) |
R610C |
unknown |
Het |
| Gm16440 |
T |
C |
14: 17,575,339 (GRCm39) |
E119G |
probably benign |
Het |
| Gm17669 |
A |
G |
18: 67,695,508 (GRCm39) |
R18G |
probably damaging |
Het |
| Gxylt1 |
A |
G |
15: 93,159,708 (GRCm39) |
S100P |
probably damaging |
Het |
| H3c10 |
C |
A |
13: 21,902,089 (GRCm39) |
S87R |
possibly damaging |
Het |
| Hacd4 |
C |
G |
4: 88,316,342 (GRCm39) |
R259T |
unknown |
Het |
| Hacd4 |
T |
A |
4: 88,316,343 (GRCm39) |
R259* |
probably null |
Het |
| Hivep3 |
T |
C |
4: 119,956,379 (GRCm39) |
L1565P |
probably damaging |
Het |
| Iqsec1 |
T |
A |
6: 90,667,471 (GRCm39) |
D218V |
probably damaging |
Het |
| Matn2 |
C |
T |
15: 34,428,877 (GRCm39) |
T747I |
possibly damaging |
Het |
| Myl6b |
T |
A |
10: 128,332,175 (GRCm39) |
Q97L |
possibly damaging |
Het |
| Or5d18 |
A |
T |
2: 87,865,126 (GRCm39) |
M119K |
probably damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,336,419 (GRCm39) |
V72A |
probably damaging |
Het |
| Pira2 |
T |
C |
7: 3,845,173 (GRCm39) |
T362A |
probably benign |
Het |
| Pira2 |
C |
T |
7: 3,845,169 (GRCm39) |
S363N |
probably benign |
Het |
| Pira2 |
G |
C |
7: 3,845,172 (GRCm39) |
T362S |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,293,130 (GRCm39) |
V2830A |
possibly damaging |
Het |
| Plpp1 |
A |
G |
13: 112,993,419 (GRCm39) |
D118G |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,793 (GRCm39) |
S1514P |
possibly damaging |
Het |
| Pou3f2 |
G |
T |
4: 22,487,291 (GRCm39) |
Q281K |
possibly damaging |
Het |
| Prl7a2 |
A |
T |
13: 27,843,259 (GRCm39) |
Y181* |
probably null |
Het |
| Prpf4b |
T |
A |
13: 35,068,274 (GRCm39) |
S368T |
probably benign |
Het |
| Prss45 |
A |
G |
9: 110,667,513 (GRCm39) |
D53G |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,609,641 (GRCm39) |
H4395L |
possibly damaging |
Het |
| Spp2 |
G |
T |
1: 88,338,927 (GRCm39) |
A97S |
probably benign |
Het |
| Strn4 |
T |
C |
7: 16,556,434 (GRCm39) |
F99S |
probably damaging |
Het |
| Tcaf2 |
T |
A |
6: 42,619,739 (GRCm39) |
H96L |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 36,054,557 (GRCm39) |
D601G |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,803,166 (GRCm39) |
M870L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,773,569 (GRCm39) |
T2351A |
unknown |
Het |
| Xirp2 |
T |
A |
2: 67,341,941 (GRCm39) |
I1394K |
possibly damaging |
Het |
| Zfc3h1 |
G |
T |
10: 115,226,794 (GRCm39) |
D284Y |
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 |
|
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 |
|
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'- CAACCTGAATGTGCTACCGAG -3'
(R):5'- AATGAACCGGCTTGAATTTGTC -3'
Sequencing Primer
(F):5'- GTGAAGGTAGAATCATAAACCACCTC -3'
(R):5'- GTCTGCAGATTTCGTGCAAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation