Incidental Mutation 'R6877:Sdccag8'
| ID |
536444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sdccag8
|
| Ensembl Gene |
ENSMUSG00000026504 |
| Gene Name |
serologically defined colon cancer antigen 8 |
| Synonyms |
CCCAP, 2700048G21Rik, 5730470G24Rik |
| MMRRC Submission |
044973-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6877 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
176642226-176848003 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 176839501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 682
(V682M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027785]
[ENSMUST00000123409]
|
| AlphaFold |
Q80UF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027785
AA Change: V682M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027785
Gene: ENSMUSG00000026504
AA Change: V682M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
94% (47/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
C |
8: 44,078,274 (GRCm39) |
H650R |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,522,922 (GRCm39) |
Y1367C |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,947,052 (GRCm39) |
C1043* |
probably null |
Het |
| Arhgef17 |
A |
G |
7: 100,530,548 (GRCm39) |
S1413P |
probably damaging |
Het |
| AU041133 |
A |
G |
10: 81,987,405 (GRCm39) |
T352A |
probably benign |
Het |
| Bcl7a |
A |
G |
5: 123,489,958 (GRCm39) |
T41A |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,921,967 (GRCm39) |
F298Y |
probably damaging |
Het |
| Ccdc57 |
G |
A |
11: 120,764,528 (GRCm39) |
T749I |
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,132,143 (GRCm39) |
N646S |
probably benign |
Het |
| Dcst1 |
T |
C |
3: 89,257,667 (GRCm39) |
D701G |
probably benign |
Het |
| Dnah14 |
C |
A |
1: 181,455,997 (GRCm39) |
T1001K |
possibly damaging |
Het |
| Dnah8 |
G |
T |
17: 30,965,933 (GRCm39) |
G2422W |
probably damaging |
Het |
| Dyrk2 |
A |
T |
10: 118,696,328 (GRCm39) |
I310N |
probably damaging |
Het |
| Eif5b |
A |
T |
1: 38,089,320 (GRCm39) |
N1099Y |
probably damaging |
Het |
| Elp2 |
T |
A |
18: 24,768,033 (GRCm39) |
N762K |
probably benign |
Het |
| Esco2 |
A |
G |
14: 66,068,494 (GRCm39) |
V272A |
probably benign |
Het |
| Fat3 |
A |
C |
9: 15,910,564 (GRCm39) |
S1813A |
probably benign |
Het |
| Igf2r |
A |
G |
17: 12,916,228 (GRCm39) |
V1710A |
probably damaging |
Het |
| Iqgap3 |
GGAGAG |
GGAG |
3: 88,020,078 (GRCm39) |
|
probably null |
Het |
| Kcnk5 |
T |
C |
14: 20,194,784 (GRCm39) |
T185A |
possibly damaging |
Het |
| Litafd |
G |
A |
16: 8,501,173 (GRCm39) |
V10I |
unknown |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
A |
T |
18: 22,852,186 (GRCm39) |
C460S |
probably benign |
Het |
| Ntaq1 |
C |
A |
15: 58,017,074 (GRCm39) |
P163Q |
probably damaging |
Het |
| Or10g3b |
T |
A |
14: 52,587,270 (GRCm39) |
I78F |
possibly damaging |
Het |
| Or4f14b |
T |
C |
2: 111,775,184 (GRCm39) |
I206V |
probably benign |
Het |
| Ovch2 |
G |
A |
7: 107,389,315 (GRCm39) |
A371V |
probably benign |
Het |
| Pcdhb4 |
A |
G |
18: 37,442,625 (GRCm39) |
D645G |
probably damaging |
Het |
| Pcnt |
A |
C |
10: 76,269,851 (GRCm39) |
S207A |
possibly damaging |
Het |
| Pex1 |
A |
T |
5: 3,685,505 (GRCm39) |
Q1211L |
probably benign |
Het |
| Pnn |
A |
G |
12: 59,115,553 (GRCm39) |
E99G |
probably damaging |
Het |
| Prkrip1 |
A |
T |
5: 136,218,478 (GRCm39) |
|
probably null |
Het |
| Rnf133 |
A |
G |
6: 23,649,486 (GRCm39) |
F191L |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,438,848 (GRCm39) |
T1674A |
probably damaging |
Het |
| Spi1 |
T |
C |
2: 90,944,741 (GRCm39) |
L162P |
probably damaging |
Het |
| Sptan1 |
C |
G |
2: 29,920,985 (GRCm39) |
N2432K |
probably damaging |
Het |
| Stx2 |
A |
G |
5: 129,064,884 (GRCm39) |
V271A |
probably benign |
Het |
| Sumf2 |
G |
A |
5: 129,878,867 (GRCm39) |
D68N |
probably damaging |
Het |
| Tsc22d4 |
A |
G |
5: 137,760,855 (GRCm39) |
E92G |
possibly damaging |
Het |
| Ube3c |
G |
T |
5: 29,792,316 (GRCm39) |
R37L |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,002,814 (GRCm39) |
S1446P |
probably damaging |
Het |
| Veph1 |
T |
C |
3: 66,162,505 (GRCm39) |
N51S |
probably damaging |
Het |
| Vmn1r82 |
T |
C |
7: 12,039,290 (GRCm39) |
F70L |
possibly damaging |
Het |
| Vmn2r92 |
A |
G |
17: 18,389,084 (GRCm39) |
N466S |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,634,164 (GRCm39) |
V2153D |
possibly damaging |
Het |
| Yeats2 |
A |
G |
16: 19,998,344 (GRCm39) |
T300A |
probably benign |
Het |
| Zc3h12d |
G |
T |
10: 7,715,735 (GRCm39) |
R46L |
probably damaging |
Het |
| Zfp516 |
T |
C |
18: 82,973,916 (GRCm39) |
I38T |
probably damaging |
Het |
| Zic5 |
G |
A |
14: 122,697,100 (GRCm39) |
T505I |
unknown |
Het |
| Zpld1 |
C |
T |
16: 55,072,034 (GRCm39) |
G75E |
probably 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 |
|
|
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 |
|
|
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'- ACTCTCTCAGGAGCTTCCAG -3'
(R):5'- GAATCTGTGTTGCCATGCAGC -3'
Sequencing Primer
(F):5'- CTCAATGTAGTTAGCCAGTCACGG -3'
(R):5'- GGCCCCCTTGAGCTATAGTG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation