Incidental Mutation 'R2276:Cep112'
ID |
242819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep112
|
Ensembl Gene |
ENSMUSG00000020728 |
Gene Name |
centrosomal protein 112 |
Synonyms |
Macoco, Ccdc46, 8430407H02Rik, 1700029K01Rik, 1700001M19Rik |
MMRRC Submission |
040275-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.602)
|
Stock # |
R2276 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
108316041-108751441 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 108746671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 176
(R176S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138124
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061287]
[ENSMUST00000106715]
[ENSMUST00000106718]
[ENSMUST00000106724]
[ENSMUST00000130515]
[ENSMUST00000132978]
[ENSMUST00000150863]
[ENSMUST00000182729]
[ENSMUST00000133670]
|
AlphaFold |
Q5PR68 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061287
AA Change: R919S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000050597 Gene: ENSMUSG00000020728 AA Change: R919S
Domain | Start | End | E-Value | Type |
Pfam:DUF4485
|
13 |
98 |
4.8e-31 |
PFAM |
coiled coil region
|
275 |
341 |
N/A |
INTRINSIC |
coiled coil region
|
397 |
477 |
N/A |
INTRINSIC |
coiled coil region
|
504 |
954 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106715
AA Change: R138S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102326 Gene: ENSMUSG00000020728 AA Change: R138S
Domain | Start | End | E-Value | Type |
coiled coil region
|
11 |
158 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106718
AA Change: R117S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102329 Gene: ENSMUSG00000020728 AA Change: R117S
Domain | Start | End | E-Value | Type |
coiled coil region
|
26 |
173 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106724
AA Change: R67S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102335 Gene: ENSMUSG00000020728 AA Change: R67S
Domain | Start | End | E-Value | Type |
coiled coil region
|
64 |
102 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129814
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130515
AA Change: R919S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000114569 Gene: ENSMUSG00000020728 AA Change: R919S
Domain | Start | End | E-Value | Type |
Pfam:DUF4485
|
12 |
99 |
5.8e-31 |
PFAM |
coiled coil region
|
275 |
341 |
N/A |
INTRINSIC |
coiled coil region
|
397 |
477 |
N/A |
INTRINSIC |
coiled coil region
|
504 |
954 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000132978
AA Change: R176S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138124 Gene: ENSMUSG00000020728 AA Change: R176S
Domain | Start | End | E-Value | Type |
coiled coil region
|
54 |
155 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150863
AA Change: R971S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122509 Gene: ENSMUSG00000020728 AA Change: R971S
Domain | Start | End | E-Value | Type |
Pfam:DUF4485
|
12 |
99 |
6.8e-28 |
PFAM |
coiled coil region
|
275 |
341 |
N/A |
INTRINSIC |
coiled coil region
|
397 |
477 |
N/A |
INTRINSIC |
coiled coil region
|
504 |
566 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182729
AA Change: R877S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000138235 Gene: ENSMUSG00000020728 AA Change: R877S
Domain | Start | End | E-Value | Type |
Pfam:DUF4485
|
12 |
99 |
5.4e-31 |
PFAM |
coiled coil region
|
233 |
299 |
N/A |
INTRINSIC |
coiled coil region
|
355 |
435 |
N/A |
INTRINSIC |
coiled coil region
|
462 |
912 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000133670
AA Change: R574S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114627 Gene: ENSMUSG00000020728 AA Change: R574S
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
29 |
N/A |
INTRINSIC |
internal_repeat_2
|
66 |
104 |
4.9e-5 |
PROSPERO |
internal_repeat_1
|
81 |
110 |
2.63e-5 |
PROSPERO |
coiled coil region
|
123 |
203 |
N/A |
INTRINSIC |
internal_repeat_3
|
252 |
264 |
4.9e-5 |
PROSPERO |
low complexity region
|
317 |
328 |
N/A |
INTRINSIC |
internal_repeat_2
|
332 |
370 |
4.9e-5 |
PROSPERO |
internal_repeat_3
|
532 |
544 |
4.9e-5 |
PROSPERO |
internal_repeat_1
|
540 |
569 |
2.63e-5 |
PROSPERO |
coiled coil region
|
571 |
609 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182735
|
Meta Mutation Damage Score |
0.0952 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (65/65) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap11 |
T |
A |
14: 78,747,477 (GRCm39) |
I1637L |
possibly damaging |
Het |
Ankrd27 |
T |
C |
7: 35,315,265 (GRCm39) |
|
probably benign |
Het |
Anxa3 |
T |
C |
5: 96,978,349 (GRCm39) |
|
probably null |
Het |
Arfgef2 |
G |
C |
2: 166,707,679 (GRCm39) |
G1025A |
probably benign |
Het |
Arhgap21 |
T |
C |
2: 20,868,037 (GRCm39) |
I829V |
possibly damaging |
Het |
Arhgap42 |
T |
C |
9: 9,035,512 (GRCm39) |
M277V |
probably benign |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
Cpped1 |
A |
C |
16: 11,712,745 (GRCm39) |
|
probably null |
Het |
Cr2 |
T |
C |
1: 194,839,676 (GRCm39) |
R960G |
possibly damaging |
Het |
Dbf4 |
T |
C |
5: 8,471,333 (GRCm39) |
N36S |
possibly damaging |
Het |
Dnah6 |
G |
A |
6: 73,090,564 (GRCm39) |
S2210L |
probably benign |
Het |
Dnajb12 |
C |
T |
10: 59,728,799 (GRCm39) |
T229I |
probably benign |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Epb41l2 |
T |
C |
10: 25,364,842 (GRCm39) |
|
probably benign |
Het |
Fam178b |
A |
G |
1: 36,671,539 (GRCm39) |
L194P |
probably damaging |
Het |
Fam50b |
C |
T |
13: 34,930,823 (GRCm39) |
Q100* |
probably null |
Het |
Gimap9 |
A |
G |
6: 48,654,812 (GRCm39) |
H133R |
probably benign |
Het |
Gpbp1 |
A |
T |
13: 111,603,512 (GRCm39) |
|
probably null |
Het |
Gpr89 |
A |
G |
3: 96,804,743 (GRCm39) |
Y38H |
probably damaging |
Het |
Gsdmc3 |
T |
A |
15: 63,732,105 (GRCm39) |
Y307F |
probably benign |
Het |
H4c16 |
T |
A |
6: 136,781,299 (GRCm39) |
I27F |
probably damaging |
Het |
Hip1 |
C |
T |
5: 135,485,900 (GRCm39) |
R101K |
probably damaging |
Het |
Hsf4 |
G |
A |
8: 105,996,628 (GRCm39) |
D18N |
probably null |
Het |
Igfn1 |
T |
C |
1: 135,892,479 (GRCm39) |
K2214E |
probably damaging |
Het |
Itgal |
A |
T |
7: 126,927,919 (GRCm39) |
E1038V |
probably null |
Het |
Kank2 |
C |
A |
9: 21,681,080 (GRCm39) |
M816I |
probably damaging |
Het |
Kctd15 |
T |
C |
7: 34,344,366 (GRCm39) |
D95G |
possibly damaging |
Het |
Kif1a |
A |
T |
1: 92,996,199 (GRCm39) |
|
probably benign |
Het |
Lgi4 |
T |
G |
7: 30,760,037 (GRCm39) |
L78V |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,885,429 (GRCm39) |
F432L |
probably damaging |
Het |
Madd |
A |
T |
2: 90,974,028 (GRCm39) |
C1419S |
possibly damaging |
Het |
Nisch |
T |
C |
14: 30,898,803 (GRCm39) |
|
probably benign |
Het |
Or2h1b |
A |
T |
17: 37,462,145 (GRCm39) |
C239* |
probably null |
Het |
Osbpl2 |
G |
A |
2: 179,790,319 (GRCm39) |
G198S |
possibly damaging |
Het |
Pclo |
T |
A |
5: 14,764,287 (GRCm39) |
D4253E |
unknown |
Het |
Phactr1 |
A |
T |
13: 43,231,265 (GRCm39) |
S244C |
possibly damaging |
Het |
Pja2 |
T |
C |
17: 64,599,865 (GRCm39) |
S478G |
probably damaging |
Het |
Prex1 |
A |
T |
2: 166,419,875 (GRCm39) |
I79N |
probably benign |
Het |
Ptpn4 |
T |
C |
1: 119,612,321 (GRCm39) |
D24G |
probably damaging |
Het |
Rars2 |
T |
C |
4: 34,656,835 (GRCm39) |
S495P |
probably damaging |
Het |
Rhebl1 |
A |
T |
15: 98,776,167 (GRCm39) |
D162E |
probably benign |
Het |
Rhou |
T |
C |
8: 124,382,258 (GRCm39) |
V100A |
probably damaging |
Het |
Rpn2 |
A |
G |
2: 157,152,208 (GRCm39) |
T394A |
possibly damaging |
Het |
Ryr3 |
A |
T |
2: 112,479,664 (GRCm39) |
M4386K |
possibly damaging |
Het |
Scmh1 |
G |
T |
4: 120,340,869 (GRCm39) |
C185F |
probably damaging |
Het |
Sema3d |
A |
T |
5: 12,592,549 (GRCm39) |
Q326L |
possibly damaging |
Het |
Sis |
T |
A |
3: 72,821,934 (GRCm39) |
K1376* |
probably null |
Het |
Slc25a29 |
T |
C |
12: 108,792,852 (GRCm39) |
E242G |
probably benign |
Het |
Slc26a5 |
A |
G |
5: 22,028,545 (GRCm39) |
V304A |
probably benign |
Het |
Slc39a7 |
C |
T |
17: 34,250,241 (GRCm39) |
|
probably benign |
Het |
Slco1a4 |
A |
G |
6: 141,761,308 (GRCm39) |
V435A |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 75,974,240 (GRCm39) |
E1146G |
possibly damaging |
Het |
Tgm5 |
T |
A |
2: 120,879,304 (GRCm39) |
|
probably benign |
Het |
Tgm7 |
A |
G |
2: 120,929,045 (GRCm39) |
S284P |
probably damaging |
Het |
Tmem132d |
G |
A |
5: 127,872,987 (GRCm39) |
R541W |
probably damaging |
Het |
Tmem170 |
C |
A |
8: 112,596,349 (GRCm39) |
V59L |
probably benign |
Het |
Tpbgl |
G |
T |
7: 99,275,233 (GRCm39) |
A208E |
possibly damaging |
Het |
Ttc23l |
A |
G |
15: 10,523,678 (GRCm39) |
I347T |
possibly damaging |
Het |
Ulk1 |
T |
C |
5: 110,936,028 (GRCm39) |
E827G |
probably benign |
Het |
Vps13a |
A |
G |
19: 16,687,790 (GRCm39) |
V886A |
possibly damaging |
Het |
Wrn |
A |
T |
8: 33,814,584 (GRCm39) |
C44S |
probably benign |
Het |
Zscan22 |
T |
A |
7: 12,640,750 (GRCm39) |
C331* |
probably null |
Het |
|
Other mutations in Cep112 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00679:Cep112
|
APN |
11 |
108,481,879 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00705:Cep112
|
APN |
11 |
108,362,859 (GRCm39) |
missense |
probably benign |
|
IGL00848:Cep112
|
APN |
11 |
108,362,886 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00975:Cep112
|
APN |
11 |
108,325,012 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01085:Cep112
|
APN |
11 |
108,377,432 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01286:Cep112
|
APN |
11 |
108,750,235 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01536:Cep112
|
APN |
11 |
108,422,237 (GRCm39) |
missense |
probably null |
0.08 |
IGL02622:Cep112
|
APN |
11 |
108,409,509 (GRCm39) |
missense |
probably benign |
0.26 |
IGL02720:Cep112
|
APN |
11 |
108,750,177 (GRCm39) |
missense |
probably damaging |
0.98 |
FR4976:Cep112
|
UTSW |
11 |
108,316,178 (GRCm39) |
unclassified |
probably benign |
|
PIT4466001:Cep112
|
UTSW |
11 |
108,410,722 (GRCm39) |
missense |
probably benign |
|
R0727:Cep112
|
UTSW |
11 |
108,397,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R0907:Cep112
|
UTSW |
11 |
108,461,258 (GRCm39) |
splice site |
probably benign |
|
R0908:Cep112
|
UTSW |
11 |
108,555,323 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1236:Cep112
|
UTSW |
11 |
108,750,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R1514:Cep112
|
UTSW |
11 |
108,362,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R2049:Cep112
|
UTSW |
11 |
108,497,151 (GRCm39) |
missense |
probably damaging |
0.96 |
R2058:Cep112
|
UTSW |
11 |
108,410,087 (GRCm39) |
critical splice donor site |
probably null |
|
R2059:Cep112
|
UTSW |
11 |
108,410,087 (GRCm39) |
critical splice donor site |
probably null |
|
R2126:Cep112
|
UTSW |
11 |
108,399,084 (GRCm39) |
missense |
probably damaging |
0.98 |
R2142:Cep112
|
UTSW |
11 |
108,497,151 (GRCm39) |
missense |
probably damaging |
0.96 |
R2196:Cep112
|
UTSW |
11 |
108,461,187 (GRCm39) |
missense |
probably damaging |
0.98 |
R2414:Cep112
|
UTSW |
11 |
108,643,408 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2655:Cep112
|
UTSW |
11 |
108,328,027 (GRCm39) |
splice site |
probably benign |
|
R2882:Cep112
|
UTSW |
11 |
108,410,038 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3001:Cep112
|
UTSW |
11 |
108,331,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R3002:Cep112
|
UTSW |
11 |
108,331,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R3003:Cep112
|
UTSW |
11 |
108,331,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R4407:Cep112
|
UTSW |
11 |
108,410,027 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4796:Cep112
|
UTSW |
11 |
108,377,818 (GRCm39) |
critical splice donor site |
probably null |
|
R4898:Cep112
|
UTSW |
11 |
108,397,471 (GRCm39) |
missense |
probably damaging |
0.96 |
R4899:Cep112
|
UTSW |
11 |
108,497,110 (GRCm39) |
missense |
probably damaging |
0.96 |
R4977:Cep112
|
UTSW |
11 |
108,325,062 (GRCm39) |
missense |
probably damaging |
0.97 |
R5021:Cep112
|
UTSW |
11 |
108,361,154 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5186:Cep112
|
UTSW |
11 |
108,643,386 (GRCm39) |
missense |
probably benign |
0.00 |
R5462:Cep112
|
UTSW |
11 |
108,409,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R5494:Cep112
|
UTSW |
11 |
108,555,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R5506:Cep112
|
UTSW |
11 |
108,555,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R5560:Cep112
|
UTSW |
11 |
108,328,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R5682:Cep112
|
UTSW |
11 |
108,361,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R5857:Cep112
|
UTSW |
11 |
108,422,297 (GRCm39) |
splice site |
probably benign |
|
R5863:Cep112
|
UTSW |
11 |
108,497,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R5884:Cep112
|
UTSW |
11 |
108,461,142 (GRCm39) |
missense |
probably damaging |
0.99 |
R5913:Cep112
|
UTSW |
11 |
108,648,514 (GRCm39) |
missense |
probably damaging |
0.99 |
R6344:Cep112
|
UTSW |
11 |
108,410,000 (GRCm39) |
missense |
probably damaging |
0.98 |
R6498:Cep112
|
UTSW |
11 |
108,331,357 (GRCm39) |
missense |
probably benign |
0.25 |
R6611:Cep112
|
UTSW |
11 |
108,397,377 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6638:Cep112
|
UTSW |
11 |
108,746,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R6916:Cep112
|
UTSW |
11 |
108,750,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R7182:Cep112
|
UTSW |
11 |
108,573,670 (GRCm39) |
missense |
probably benign |
0.07 |
R7262:Cep112
|
UTSW |
11 |
108,555,467 (GRCm39) |
missense |
probably damaging |
0.99 |
R7386:Cep112
|
UTSW |
11 |
108,699,507 (GRCm39) |
missense |
probably benign |
0.00 |
R7539:Cep112
|
UTSW |
11 |
108,746,654 (GRCm39) |
missense |
probably benign |
0.38 |
R8262:Cep112
|
UTSW |
11 |
108,393,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R8681:Cep112
|
UTSW |
11 |
108,316,478 (GRCm39) |
critical splice donor site |
probably null |
|
R8845:Cep112
|
UTSW |
11 |
108,461,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R8955:Cep112
|
UTSW |
11 |
108,643,260 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9213:Cep112
|
UTSW |
11 |
108,377,779 (GRCm39) |
missense |
probably benign |
|
R9348:Cep112
|
UTSW |
11 |
108,328,076 (GRCm39) |
missense |
probably damaging |
0.97 |
R9516:Cep112
|
UTSW |
11 |
108,648,514 (GRCm39) |
missense |
probably damaging |
0.99 |
R9771:Cep112
|
UTSW |
11 |
108,573,517 (GRCm39) |
intron |
probably benign |
|
R9784:Cep112
|
UTSW |
11 |
108,461,217 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cep112
|
UTSW |
11 |
108,316,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATGCTAGTACATGCTTTCTGAC -3'
(R):5'- GGGCTGTGAATGAATCTGACC -3'
Sequencing Primer
(F):5'- ACATGCTTTCTGACAATAAAGAGAG -3'
(R):5'- CTGACCCAGTTTTAGGAGACTAGC -3'
|
Posted On |
2014-10-16 |