Incidental Mutation 'R5021:Cep112'
| ID |
389204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep112
|
| Ensembl Gene |
ENSMUSG00000020728 |
| Gene Name |
centrosomal protein 112 |
| Synonyms |
Macoco, Ccdc46, 8430407H02Rik, 1700029K01Rik, 1700001M19Rik |
| MMRRC Submission |
042612-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.590)
|
| Stock # |
R5021 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
108316041-108751441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108361154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 169
(H169Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061287]
[ENSMUST00000130515]
[ENSMUST00000138538]
[ENSMUST00000150863]
[ENSMUST00000182729]
|
| AlphaFold |
Q5PR68 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061287
AA Change: H169Q
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000050597
Gene: ENSMUSG00000020728
AA Change: H169Q
| 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 |
possibly damaging
Transcript: ENSMUST00000130515
AA Change: H169Q
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114569
Gene: ENSMUSG00000020728
AA Change: H169Q
| 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 |
possibly damaging
Transcript: ENSMUST00000138538
AA Change: H169Q
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117192
Gene: ENSMUSG00000020728
AA Change: H169Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4485
|
12 |
99 |
6.7e-28 |
PFAM |
|
coiled coil region
|
275 |
341 |
N/A |
INTRINSIC |
|
coiled coil region
|
397 |
477 |
N/A |
INTRINSIC |
|
coiled coil region
|
504 |
532 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143212
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150863
AA Change: H221Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000122509
Gene: ENSMUSG00000020728
AA Change: H221Q
| 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 benign
Transcript: ENSMUST00000182729
AA Change: H169Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000138235
Gene: ENSMUSG00000020728
AA Change: H169Q
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.8%
|
| Validation Efficiency |
95% (39/41) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano5 |
A |
T |
7: 51,205,933 (GRCm39) |
T242S |
probably benign |
Het |
| B3gnt4 |
G |
C |
5: 123,649,010 (GRCm39) |
R125P |
probably damaging |
Het |
| Blvrb |
A |
C |
7: 27,147,543 (GRCm39) |
M1L |
probably benign |
Het |
| Clcn1 |
A |
T |
6: 42,287,922 (GRCm39) |
K718* |
probably null |
Het |
| Clhc1 |
A |
G |
11: 29,510,627 (GRCm39) |
N226S |
probably benign |
Het |
| Cpne1 |
T |
C |
2: 155,940,193 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
G |
A |
9: 56,805,014 (GRCm39) |
V1942I |
probably benign |
Het |
| Decr2 |
A |
T |
17: 26,301,980 (GRCm39) |
L250Q |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,136,758 (GRCm39) |
T1343A |
probably damaging |
Het |
| Eed |
A |
T |
7: 89,621,513 (GRCm39) |
L45M |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,524,224 (GRCm39) |
S1351T |
unknown |
Het |
| Fam184b |
T |
A |
5: 45,730,604 (GRCm39) |
Q476L |
probably benign |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,841,333 (GRCm39) |
D39G |
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,864,832 (GRCm39) |
Y206H |
probably damaging |
Het |
| Ighv1-19 |
T |
C |
12: 114,672,686 (GRCm39) |
I6V |
probably benign |
Het |
| Itm2c |
T |
C |
1: 85,833,059 (GRCm39) |
I131T |
probably damaging |
Het |
| Kcnd3 |
A |
T |
3: 105,566,070 (GRCm39) |
D417V |
probably damaging |
Het |
| Klf4 |
T |
C |
4: 55,530,970 (GRCm39) |
E38G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,228,302 (GRCm39) |
M1064V |
probably benign |
Het |
| Map4 |
C |
T |
9: 109,867,157 (GRCm39) |
Q265* |
probably null |
Het |
| Mcf2l |
T |
G |
8: 13,061,808 (GRCm39) |
V893G |
probably damaging |
Het |
| Mlst8 |
C |
T |
17: 24,696,193 (GRCm39) |
D179N |
possibly damaging |
Het |
| Mup6 |
T |
A |
4: 59,964,352 (GRCm39) |
N18K |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,466,531 (GRCm39) |
R764W |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,248,869 (GRCm39) |
S1478R |
probably benign |
Het |
| Pcdhga1 |
C |
A |
18: 37,796,876 (GRCm39) |
R627S |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,411,393 (GRCm39) |
D394G |
probably damaging |
Het |
| Schip1 |
A |
G |
3: 68,402,585 (GRCm39) |
T221A |
probably benign |
Het |
| Slc35c1 |
A |
G |
2: 92,289,366 (GRCm39) |
Y47H |
possibly damaging |
Het |
| Tspan32 |
A |
G |
7: 142,568,715 (GRCm39) |
D70G |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,882,942 (GRCm39) |
Y270C |
possibly damaging |
Het |
| Zfp777 |
A |
G |
6: 48,019,061 (GRCm39) |
V291A |
probably damaging |
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 |
|
R2276:Cep112
|
UTSW |
11 |
108,746,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TAGAGTCCCACGTGAAAACAGC -3'
(R):5'- CACATGTTCACCAGAAGCTTC -3'
Sequencing Primer
(F):5'- GTCCCACGTGAAAACAGCATTTG -3'
(R):5'- ATTAAAGGCGTTTGCTGCCAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation