Incidental Mutation 'R6186:Cep164'
| ID |
502182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep164
|
| Ensembl Gene |
ENSMUSG00000043987 |
| Gene Name |
centrosomal protein 164 |
| Synonyms |
|
| MMRRC Submission |
044326-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6186 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
45678244-45739984 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45705407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 363
(S363R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117194]
[ENSMUST00000213154]
[ENSMUST00000216284]
[ENSMUST00000217554]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117194
AA Change: S363R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114053
Gene: ENSMUSG00000043987
AA Change: S363R
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
57 |
89 |
1.99e-3 |
SMART |
|
low complexity region
|
110 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
375 |
N/A |
INTRINSIC |
|
coiled coil region
|
511 |
735 |
N/A |
INTRINSIC |
|
low complexity region
|
741 |
756 |
N/A |
INTRINSIC |
|
coiled coil region
|
761 |
931 |
N/A |
INTRINSIC |
|
low complexity region
|
956 |
962 |
N/A |
INTRINSIC |
|
coiled coil region
|
1057 |
1084 |
N/A |
INTRINSIC |
|
low complexity region
|
1095 |
1110 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1168 |
N/A |
INTRINSIC |
|
low complexity region
|
1185 |
1195 |
N/A |
INTRINSIC |
|
low complexity region
|
1235 |
1248 |
N/A |
INTRINSIC |
|
low complexity region
|
1309 |
1318 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000132430
AA Change: S141R
|
| SMART Domains |
Protein: ENSMUSP00000117344
Gene: ENSMUSG00000043987
AA Change: S141R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
141 |
154 |
N/A |
INTRINSIC |
|
coiled coil region
|
325 |
612 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213154
AA Change: S916R
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215216
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216284
AA Change: S203R
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217022
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000217554
AA Change: V53E
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
G |
10: 10,298,502 (GRCm39) |
S409P |
probably damaging |
Het |
| Adgrg5 |
T |
C |
8: 95,660,652 (GRCm39) |
V93A |
possibly damaging |
Het |
| Akap8l |
C |
T |
17: 32,552,018 (GRCm39) |
V420I |
probably benign |
Het |
| Ankrd36 |
T |
G |
11: 5,593,812 (GRCm39) |
D472E |
possibly damaging |
Het |
| Apbb1 |
T |
C |
7: 105,216,933 (GRCm39) |
E250G |
probably damaging |
Het |
| Cacna2d4 |
G |
A |
6: 119,258,650 (GRCm39) |
E579K |
possibly damaging |
Het |
| Capn7 |
G |
T |
14: 31,092,875 (GRCm39) |
G780W |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,805,394 (GRCm39) |
E2419G |
possibly damaging |
Het |
| Cfap221 |
T |
A |
1: 119,862,340 (GRCm39) |
I581F |
probably damaging |
Het |
| Cog2 |
C |
A |
8: 125,273,425 (GRCm39) |
T588N |
probably damaging |
Het |
| Cyp2a5 |
T |
C |
7: 26,542,813 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
| Evx1 |
T |
C |
6: 52,291,203 (GRCm39) |
|
probably null |
Het |
| Fam186a |
T |
C |
15: 99,845,206 (GRCm39) |
H346R |
unknown |
Het |
| Fam53b |
T |
A |
7: 132,317,445 (GRCm39) |
D399V |
possibly damaging |
Het |
| Fcho2 |
T |
A |
13: 98,951,591 (GRCm39) |
N9I |
probably benign |
Het |
| Fjx1 |
T |
C |
2: 102,281,152 (GRCm39) |
E261G |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Fkbpl |
T |
C |
17: 34,865,153 (GRCm39) |
F307S |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,676,449 (GRCm39) |
I594T |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,772,863 (GRCm39) |
V719E |
probably damaging |
Het |
| Ldlr |
C |
T |
9: 21,635,055 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,377,968 (GRCm39) |
V1419A |
probably damaging |
Het |
| Mapkap1 |
A |
G |
2: 34,453,126 (GRCm39) |
T340A |
possibly damaging |
Het |
| Mark2 |
A |
G |
19: 7,260,567 (GRCm39) |
V403A |
probably benign |
Het |
| Mast3 |
T |
C |
8: 71,238,127 (GRCm39) |
T521A |
probably damaging |
Het |
| Mrtfa |
T |
C |
15: 80,900,853 (GRCm39) |
K546R |
probably damaging |
Het |
| Myo1h |
C |
T |
5: 114,457,864 (GRCm39) |
T125I |
possibly damaging |
Het |
| Ndufa8 |
A |
G |
2: 35,929,752 (GRCm39) |
V118A |
probably benign |
Het |
| Nphs1 |
A |
G |
7: 30,165,059 (GRCm39) |
T551A |
probably damaging |
Het |
| Or2k2 |
T |
C |
4: 58,784,948 (GRCm39) |
Y258C |
probably damaging |
Het |
| Or4k15c |
T |
A |
14: 50,321,982 (GRCm39) |
D52V |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,746,830 (GRCm39) |
L1343P |
probably benign |
Het |
| Pdcd1 |
T |
A |
1: 93,967,846 (GRCm39) |
R202* |
probably null |
Het |
| Pramel52-ps |
T |
A |
5: 94,531,835 (GRCm39) |
Y240N |
probably benign |
Het |
| Prkab2 |
A |
G |
3: 97,571,307 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
T |
C |
7: 140,734,862 (GRCm39) |
|
probably benign |
Het |
| Rap1b |
G |
T |
10: 117,656,457 (GRCm39) |
F78L |
probably damaging |
Het |
| Rbl2 |
C |
T |
8: 91,833,358 (GRCm39) |
T711I |
probably damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,035,693 (GRCm39) |
I126T |
probably damaging |
Het |
| Rimoc1 |
C |
A |
15: 4,015,851 (GRCm39) |
D238Y |
possibly damaging |
Het |
| Rnf123 |
A |
C |
9: 107,947,157 (GRCm39) |
S210A |
possibly damaging |
Het |
| Shank1 |
T |
A |
7: 44,001,990 (GRCm39) |
F1228L |
probably benign |
Het |
| Spata31f3 |
T |
C |
4: 42,872,000 (GRCm39) |
K125R |
possibly damaging |
Het |
| Sumo1 |
C |
A |
1: 59,683,729 (GRCm39) |
V38L |
probably benign |
Het |
| Sycp2 |
C |
T |
2: 178,025,353 (GRCm39) |
S363N |
probably damaging |
Het |
| Tbx2 |
G |
T |
11: 85,728,672 (GRCm39) |
E352* |
probably null |
Het |
| Timm44 |
T |
C |
8: 4,316,824 (GRCm39) |
N270D |
probably damaging |
Het |
| Topaz1 |
A |
T |
9: 122,577,891 (GRCm39) |
Q267L |
probably benign |
Het |
| Trp63 |
T |
C |
16: 25,695,483 (GRCm39) |
|
probably benign |
Het |
| Ushbp1 |
T |
A |
8: 71,843,647 (GRCm39) |
T264S |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,423,383 (GRCm39) |
Y334C |
probably damaging |
Het |
| Wdr36 |
G |
C |
18: 32,985,954 (GRCm39) |
A553P |
probably benign |
Het |
| Zfhx2 |
A |
T |
14: 55,300,617 (GRCm39) |
I2378K |
probably damaging |
Het |
| Zfp276 |
T |
A |
8: 123,982,672 (GRCm39) |
Y145* |
probably null |
Het |
| Zfp458 |
T |
C |
13: 67,405,701 (GRCm39) |
E246G |
probably damaging |
Het |
| Zfp526 |
A |
G |
7: 24,925,561 (GRCm39) |
T607A |
probably benign |
Het |
|
| Other mutations in Cep164 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00983:Cep164
|
APN |
9 |
45,686,554 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01571:Cep164
|
APN |
9 |
45,705,636 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01985:Cep164
|
APN |
9 |
45,690,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01989:Cep164
|
APN |
9 |
45,704,313 (GRCm39) |
splice site |
probably benign |
|
|
IGL02130:Cep164
|
APN |
9 |
45,691,090 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02598:Cep164
|
APN |
9 |
45,682,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03206:Cep164
|
APN |
9 |
45,714,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0063:Cep164
|
UTSW |
9 |
45,679,916 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0109:Cep164
|
UTSW |
9 |
45,682,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0528:Cep164
|
UTSW |
9 |
45,688,234 (GRCm39) |
unclassified |
probably benign |
|
|
R0532:Cep164
|
UTSW |
9 |
45,721,124 (GRCm39) |
nonsense |
probably null |
|
|
R1445:Cep164
|
UTSW |
9 |
45,690,198 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1753:Cep164
|
UTSW |
9 |
45,704,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1824:Cep164
|
UTSW |
9 |
45,690,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Cep164
|
UTSW |
9 |
45,687,056 (GRCm39) |
splice site |
probably null |
|
|
R1858:Cep164
|
UTSW |
9 |
45,734,938 (GRCm39) |
splice site |
probably benign |
|
|
R1900:Cep164
|
UTSW |
9 |
45,721,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1911:Cep164
|
UTSW |
9 |
45,682,104 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2032:Cep164
|
UTSW |
9 |
45,682,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Cep164
|
UTSW |
9 |
45,714,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2186:Cep164
|
UTSW |
9 |
45,679,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2511:Cep164
|
UTSW |
9 |
45,686,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4424:Cep164
|
UTSW |
9 |
45,691,002 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5126:Cep164
|
UTSW |
9 |
45,698,722 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5997:Cep164
|
UTSW |
9 |
45,680,761 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6357:Cep164
|
UTSW |
9 |
45,682,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6385:Cep164
|
UTSW |
9 |
45,691,081 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6632:Cep164
|
UTSW |
9 |
45,691,088 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6957:Cep164
|
UTSW |
9 |
45,683,578 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7310:Cep164
|
UTSW |
9 |
45,686,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7420:Cep164
|
UTSW |
9 |
45,679,840 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7651:Cep164
|
UTSW |
9 |
45,685,150 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7918:Cep164
|
UTSW |
9 |
45,690,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7982:Cep164
|
UTSW |
9 |
45,690,162 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8010:Cep164
|
UTSW |
9 |
45,734,969 (GRCm39) |
missense |
unknown |
|
|
R8391:Cep164
|
UTSW |
9 |
45,718,491 (GRCm39) |
missense |
unknown |
|
|
R8553:Cep164
|
UTSW |
9 |
45,718,508 (GRCm39) |
unclassified |
probably benign |
|
|
R8700:Cep164
|
UTSW |
9 |
45,686,667 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9177:Cep164
|
UTSW |
9 |
45,691,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9348:Cep164
|
UTSW |
9 |
45,717,708 (GRCm39) |
missense |
unknown |
|
|
R9460:Cep164
|
UTSW |
9 |
45,685,282 (GRCm39) |
missense |
probably benign |
|
|
R9729:Cep164
|
UTSW |
9 |
45,682,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Cep164
|
UTSW |
9 |
45,687,161 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0028:Cep164
|
UTSW |
9 |
45,682,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Cep164
|
UTSW |
9 |
45,686,085 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCATATTTGTCACAATTAAGGG -3'
(R):5'- CAATGGCAGCAAGTCCCAAG -3'
Sequencing Primer
(F):5'- TCACAATTAAGGGCTCTGGC -3'
(R):5'- CAGCAAGTCCCAAGGAAGAG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation