Incidental Mutation 'R3800:Sdccag8'
| ID |
272903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sdccag8
|
| Ensembl Gene |
ENSMUSG00000026504 |
| Gene Name |
serologically defined colon cancer antigen 8 |
| Synonyms |
CCCAP, 2700048G21Rik, 5730470G24Rik |
| MMRRC Submission |
040759-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3800 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
176642226-176848003 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 176695904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 403
(R403*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027785]
[ENSMUST00000123409]
|
| AlphaFold |
Q80UF4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027785
AA Change: R403*
|
| SMART Domains |
Protein: ENSMUSP00000027785
Gene: ENSMUSG00000026504
AA Change: R403*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCCAP
|
6 |
710 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123409
|
| SMART Domains |
Protein: ENSMUSP00000137948
Gene: ENSMUSG00000026504
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
|
coiled coil region
|
132 |
168 |
N/A |
INTRINSIC |
|
coiled coil region
|
228 |
278 |
N/A |
INTRINSIC |
|
coiled coil region
|
307 |
327 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133305
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
95% (52/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygotes for a null allele show postnatal lethality, cleft palate, polydactyly, enlarged lateral ventricles and impaired neuronal migration. Homozygotes for a gene trap allele show late-onset nephronophthisis associated with renal cysts and fibrosis, and retinal degeneration leading to blindness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
T |
14: 32,385,025 (GRCm39) |
D313E |
possibly damaging |
Het |
| Abca12 |
C |
T |
1: 71,305,046 (GRCm39) |
V2070I |
probably damaging |
Het |
| Adam23 |
C |
T |
1: 63,590,933 (GRCm39) |
R467* |
probably null |
Het |
| Adgrf5 |
T |
C |
17: 43,757,951 (GRCm39) |
|
probably benign |
Het |
| Aire |
A |
G |
10: 77,877,889 (GRCm39) |
|
probably null |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,180,031 (GRCm39) |
D268G |
probably damaging |
Het |
| Btbd9 |
T |
C |
17: 30,732,633 (GRCm39) |
I351V |
possibly damaging |
Het |
| Cacna1b |
C |
T |
2: 24,548,971 (GRCm39) |
R1138Q |
probably benign |
Het |
| Caskin1 |
T |
G |
17: 24,720,246 (GRCm39) |
V456G |
probably benign |
Het |
| Ccdc96 |
A |
G |
5: 36,643,611 (GRCm39) |
D539G |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,408,803 (GRCm39) |
I2425T |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,392,784 (GRCm39) |
|
probably benign |
Het |
| Col18a1 |
C |
A |
10: 76,903,221 (GRCm39) |
G998* |
probably null |
Het |
| Cpe |
A |
G |
8: 65,070,651 (GRCm39) |
V198A |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,344,887 (GRCm39) |
M364T |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,141,716 (GRCm39) |
N1396K |
probably benign |
Het |
| Dync2h1 |
A |
C |
9: 7,101,525 (GRCm39) |
F482V |
possibly damaging |
Het |
| Eif1ad19 |
T |
C |
12: 87,740,491 (GRCm39) |
K23E |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,035,423 (GRCm39) |
V3025E |
possibly damaging |
Het |
| Fbn1 |
T |
A |
2: 125,187,894 (GRCm39) |
D1545V |
possibly damaging |
Het |
| Fbxw16 |
T |
G |
9: 109,265,665 (GRCm39) |
I385L |
probably damaging |
Het |
| Fnbp1 |
T |
C |
2: 30,923,143 (GRCm39) |
E341G |
probably damaging |
Het |
| Gm9845 |
T |
C |
3: 39,412,642 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
T |
C |
3: 63,889,866 (GRCm39) |
Y82H |
possibly damaging |
Het |
| Habp4 |
C |
T |
13: 64,321,917 (GRCm39) |
R185C |
probably damaging |
Het |
| Ift122 |
T |
A |
6: 115,902,867 (GRCm39) |
S1209T |
probably benign |
Het |
| Ino80c |
T |
C |
18: 24,254,752 (GRCm39) |
Y36C |
probably damaging |
Het |
| Inpp5b |
C |
T |
4: 124,679,138 (GRCm39) |
T515I |
probably damaging |
Het |
| Kcnj6 |
G |
A |
16: 94,633,886 (GRCm39) |
T75M |
probably damaging |
Het |
| Map2k4 |
A |
T |
11: 65,581,607 (GRCm39) |
Y368* |
probably null |
Het |
| Mbd6 |
A |
G |
10: 127,121,036 (GRCm39) |
|
probably benign |
Het |
| Mccc1 |
G |
A |
3: 36,054,658 (GRCm39) |
R17W |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Ncoa3 |
T |
C |
2: 165,901,639 (GRCm39) |
M1004T |
possibly damaging |
Het |
| Npnt |
C |
A |
3: 132,612,524 (GRCm39) |
G87V |
probably damaging |
Het |
| Or10a4 |
C |
T |
7: 106,696,938 (GRCm39) |
Q89* |
probably null |
Het |
| Or14j1 |
T |
G |
17: 38,146,848 (GRCm39) |
N319K |
probably benign |
Het |
| Ppp2r1a |
A |
T |
17: 21,182,972 (GRCm39) |
D552V |
possibly damaging |
Het |
| Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
| Rnf34 |
A |
G |
5: 123,002,273 (GRCm39) |
H77R |
probably damaging |
Het |
| Samm50 |
T |
C |
15: 84,076,575 (GRCm39) |
V4A |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Senp6 |
A |
G |
9: 79,994,735 (GRCm39) |
R25G |
possibly damaging |
Het |
| Shc2 |
C |
T |
10: 79,462,707 (GRCm39) |
V272I |
probably benign |
Het |
| Smarcd3 |
T |
A |
5: 24,798,225 (GRCm39) |
K403* |
probably null |
Het |
| Srgap2 |
T |
A |
1: 131,238,297 (GRCm39) |
I672F |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,582,941 (GRCm39) |
V22651I |
probably damaging |
Het |
| Ubash3a |
T |
C |
17: 31,450,444 (GRCm39) |
V373A |
probably benign |
Het |
| Vav3 |
A |
G |
3: 109,535,355 (GRCm39) |
K36E |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,738 (GRCm39) |
V726A |
possibly damaging |
Het |
|
| Other mutations in Sdccag8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00951:Sdccag8
|
APN |
1 |
176,705,568 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01446:Sdccag8
|
APN |
1 |
176,672,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01794:Sdccag8
|
APN |
1 |
176,672,873 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02179:Sdccag8
|
APN |
1 |
176,705,622 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02313:Sdccag8
|
APN |
1 |
176,652,321 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02962:Sdccag8
|
APN |
1 |
176,775,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Sdccag8
|
UTSW |
1 |
176,672,387 (GRCm39) |
splice site |
probably null |
|
|
R0762:Sdccag8
|
UTSW |
1 |
176,773,710 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1928:Sdccag8
|
UTSW |
1 |
176,656,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Sdccag8
|
UTSW |
1 |
176,783,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2342:Sdccag8
|
UTSW |
1 |
176,747,207 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2964:Sdccag8
|
UTSW |
1 |
176,775,937 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3853:Sdccag8
|
UTSW |
1 |
176,681,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4409:Sdccag8
|
UTSW |
1 |
176,695,932 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4590:Sdccag8
|
UTSW |
1 |
176,775,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5036:Sdccag8
|
UTSW |
1 |
176,839,541 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5083:Sdccag8
|
UTSW |
1 |
176,652,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5174:Sdccag8
|
UTSW |
1 |
176,672,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5739:Sdccag8
|
UTSW |
1 |
176,653,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5740:Sdccag8
|
UTSW |
1 |
176,658,716 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5898:Sdccag8
|
UTSW |
1 |
176,652,388 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6435:Sdccag8
|
UTSW |
1 |
176,642,428 (GRCm39) |
unclassified |
probably benign |
|
|
R6624:Sdccag8
|
UTSW |
1 |
176,702,378 (GRCm39) |
splice site |
probably null |
|
|
R6763:Sdccag8
|
UTSW |
1 |
176,682,193 (GRCm39) |
splice site |
probably null |
|
|
R6877:Sdccag8
|
UTSW |
1 |
176,839,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7130:Sdccag8
|
UTSW |
1 |
176,702,167 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7331:Sdccag8
|
UTSW |
1 |
176,695,856 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7393:Sdccag8
|
UTSW |
1 |
176,667,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8715:Sdccag8
|
UTSW |
1 |
176,773,803 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8828:Sdccag8
|
UTSW |
1 |
176,783,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Sdccag8
|
UTSW |
1 |
176,783,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9013:Sdccag8
|
UTSW |
1 |
176,652,371 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9577:Sdccag8
|
UTSW |
1 |
176,658,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Sdccag8
|
UTSW |
1 |
176,747,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Sdccag8
|
UTSW |
1 |
176,695,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATCAGGGTGCTGCTATG -3'
(R):5'- AAAGGGGTGCACAGGACTTC -3'
Sequencing Primer
(F):5'- TAGTGTTGGAAAGCAGTCATCC -3'
(R):5'- TGCACAGGACTTCAGAAAGC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation