Incidental Mutation 'R3853:Sdccag8'
| ID |
275995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sdccag8
|
| Ensembl Gene |
ENSMUSG00000026504 |
| Gene Name |
serologically defined colon cancer antigen 8 |
| Synonyms |
CCCAP, 2700048G21Rik, 5730470G24Rik |
| MMRRC Submission |
040900-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3853 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
176642226-176848003 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 176681361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 325
(S325P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027785]
[ENSMUST00000056773]
[ENSMUST00000123409]
|
| AlphaFold |
Q80UF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027785
AA Change: S325P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027785
Gene: ENSMUSG00000026504
AA Change: S325P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCCAP
|
6 |
710 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056773
AA Change: S287P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050667
Gene: ENSMUSG00000026504
AA Change: S287P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
103 |
130 |
N/A |
INTRINSIC |
|
coiled coil region
|
190 |
240 |
N/A |
INTRINSIC |
|
coiled coil region
|
269 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123409
AA Change: S325P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137948
Gene: ENSMUSG00000026504
AA Change: S325P
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193938
|
| Meta Mutation Damage Score |
0.1699 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.4%
|
| Validation Efficiency |
96% (47/49) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,055,976 (GRCm39) |
H316L |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,509,090 (GRCm38) |
|
probably benign |
Het |
| Cluh |
A |
G |
11: 74,547,279 (GRCm39) |
D44G |
probably benign |
Het |
| Copb1 |
A |
G |
7: 113,822,551 (GRCm39) |
V726A |
probably damaging |
Het |
| Dsg4 |
T |
C |
18: 20,582,291 (GRCm39) |
V79A |
probably benign |
Het |
| Exo1 |
A |
T |
1: 175,720,554 (GRCm39) |
I291F |
probably benign |
Het |
| Eya4 |
C |
T |
10: 22,992,574 (GRCm39) |
A460T |
probably damaging |
Het |
| Gjd3 |
G |
T |
11: 102,690,952 (GRCm39) |
D350E |
probably benign |
Het |
| Hcar2 |
T |
C |
5: 124,002,475 (GRCm39) |
M343V |
probably benign |
Het |
| Ifna15 |
T |
C |
4: 88,476,046 (GRCm39) |
Y146C |
probably damaging |
Het |
| Lce3e |
C |
T |
3: 92,875,139 (GRCm39) |
Q32* |
probably null |
Het |
| Llgl1 |
T |
C |
11: 60,598,075 (GRCm39) |
L373P |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,254,655 (GRCm39) |
C642R |
probably damaging |
Het |
| Mbd3l2 |
A |
G |
9: 18,356,092 (GRCm39) |
Q139R |
probably benign |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Nynrin |
T |
A |
14: 56,101,562 (GRCm39) |
N410K |
probably benign |
Het |
| Or10g7 |
A |
T |
9: 39,905,450 (GRCm39) |
T115S |
probably damaging |
Het |
| Or4a71 |
A |
T |
2: 89,357,917 (GRCm39) |
M279K |
possibly damaging |
Het |
| Or5b112 |
A |
G |
19: 13,319,862 (GRCm39) |
T247A |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,781 (GRCm39) |
Y36N |
probably damaging |
Het |
| Or8b1 |
G |
T |
9: 38,400,247 (GRCm39) |
R307S |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,518,580 (GRCm39) |
|
probably benign |
Het |
| Prkce |
A |
G |
17: 86,476,277 (GRCm39) |
D86G |
probably damaging |
Het |
| Pwwp3b |
C |
T |
X: 138,137,403 (GRCm39) |
|
probably null |
Het |
| Rad21 |
T |
G |
15: 51,835,712 (GRCm39) |
I234L |
probably benign |
Het |
| Scn4a |
A |
T |
11: 106,210,932 (GRCm39) |
M1695K |
possibly damaging |
Het |
| Sebox |
G |
A |
11: 78,394,975 (GRCm39) |
G106R |
probably benign |
Het |
| Serpinb9 |
A |
G |
13: 33,199,503 (GRCm39) |
E266G |
possibly damaging |
Het |
| Shoc1 |
T |
C |
4: 59,047,390 (GRCm39) |
N1410D |
possibly damaging |
Het |
| Snx14 |
T |
C |
9: 88,289,372 (GRCm39) |
|
probably benign |
Het |
| Tmc6 |
A |
T |
11: 117,663,884 (GRCm39) |
L474* |
probably null |
Het |
| Tmem132c |
T |
C |
5: 127,436,933 (GRCm39) |
Y141H |
probably benign |
Het |
| Trap1 |
G |
A |
16: 3,872,686 (GRCm39) |
R328C |
possibly damaging |
Het |
| Trim36 |
C |
A |
18: 46,305,439 (GRCm39) |
|
probably benign |
Het |
| Trmt2a |
A |
T |
16: 18,069,055 (GRCm39) |
Y299F |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,728,975 (GRCm39) |
K630E |
probably damaging |
Het |
| Tsnaxip1 |
A |
T |
8: 106,567,333 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
G |
T |
12: 57,775,335 (GRCm39) |
C1677F |
possibly damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,485,018 (GRCm39) |
V2D |
|
Het |
| Usp9x |
A |
G |
X: 12,964,822 (GRCm39) |
D77G |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
| Zan |
A |
C |
5: 137,472,326 (GRCm39) |
L140R |
probably damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,709,346 (GRCm39) |
S508T |
probably benign |
Het |
| Zswim3 |
A |
G |
2: 164,662,777 (GRCm39) |
Y419C |
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 |
|
R3800:Sdccag8
|
UTSW |
1 |
176,695,904 (GRCm39) |
nonsense |
probably null |
|
|
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'- TATTGTCCCATGCAGATGTGGTC -3'
(R):5'- TCAACATTTGTGGACTGACATCTG -3'
Sequencing Primer
(F):5'- ATGCAGATGTGGTCCTGCC -3'
(R):5'- ACATTTGTGGACTGACATCTGTTTTG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation