Incidental Mutation 'R9577:Sdccag8'
| ID |
722334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sdccag8
|
| Ensembl Gene |
ENSMUSG00000026504 |
| Gene Name |
serologically defined colon cancer antigen 8 |
| Synonyms |
CCCAP, 2700048G21Rik, 5730470G24Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9577 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
176642226-176848003 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 176658629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 143
(L143M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027785]
[ENSMUST00000056773]
[ENSMUST00000123409]
|
| AlphaFold |
Q80UF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027785
AA Change: L143M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027785
Gene: ENSMUSG00000026504
AA Change: L143M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCCAP
|
6 |
710 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056773
AA Change: L105M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050667
Gene: ENSMUSG00000026504
AA Change: L105M
| 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: L143M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137948
Gene: ENSMUSG00000026504
AA Change: L143M
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
G |
T |
18: 24,608,663 (GRCm39) |
A128S |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,810,768 (GRCm39) |
Y116H |
probably benign |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Ankar |
C |
A |
1: 72,721,067 (GRCm39) |
V464L |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,769,060 (GRCm39) |
I1526N |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 80,004,996 (GRCm39) |
N1144K |
probably damaging |
Het |
| B3gntl1 |
T |
C |
11: 121,515,040 (GRCm39) |
T243A |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,809,031 (GRCm39) |
T73A |
probably benign |
Het |
| Bnip5 |
A |
T |
17: 29,128,382 (GRCm39) |
I177K |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,906,876 (GRCm39) |
S148G |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,603,335 (GRCm39) |
D332G |
probably benign |
Het |
| Card9 |
T |
A |
2: 26,242,344 (GRCm39) |
T531S |
probably damaging |
Het |
| Ccdc71 |
C |
T |
9: 108,340,472 (GRCm39) |
A95V |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,146,895 (GRCm39) |
V2787A |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,752,964 (GRCm39) |
E487G |
unknown |
Het |
| Col22a1 |
T |
C |
15: 71,837,595 (GRCm39) |
K505R |
probably damaging |
Het |
| Dennd1b |
T |
C |
1: 139,018,196 (GRCm39) |
V180A |
|
Het |
| Dmxl2 |
A |
G |
9: 54,323,664 (GRCm39) |
V1066A |
unknown |
Het |
| Dnah9 |
C |
T |
11: 65,867,347 (GRCm39) |
V2744M |
probably benign |
Het |
| Fam83e |
G |
T |
7: 45,376,439 (GRCm39) |
R384L |
possibly damaging |
Het |
| Fbxo42 |
T |
A |
4: 140,907,743 (GRCm39) |
Y134* |
probably null |
Het |
| Fmn1 |
C |
T |
2: 113,194,470 (GRCm39) |
P57S |
unknown |
Het |
| Gm6309 |
T |
C |
5: 146,105,700 (GRCm39) |
R155G |
possibly damaging |
Het |
| Gnpda1 |
T |
C |
18: 38,463,605 (GRCm39) |
T235A |
probably benign |
Het |
| Gsdmc2 |
T |
A |
15: 63,696,906 (GRCm39) |
I422F |
probably damaging |
Het |
| Itfg1 |
A |
G |
8: 86,502,798 (GRCm39) |
V256A |
probably benign |
Het |
| Kcnk2 |
CAAA |
CAA |
1: 188,988,891 (GRCm39) |
|
probably null |
Het |
| Kif14 |
T |
C |
1: 136,399,138 (GRCm39) |
V433A |
probably benign |
Het |
| Kif3a |
T |
C |
11: 53,475,231 (GRCm39) |
F363S |
probably damaging |
Het |
| Lman2l |
T |
C |
1: 36,467,490 (GRCm39) |
D186G |
probably damaging |
Het |
| Lmntd2 |
T |
C |
7: 140,790,990 (GRCm39) |
T448A |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,814,282 (GRCm39) |
A898V |
probably damaging |
Het |
| Mri1 |
A |
G |
8: 84,982,929 (GRCm39) |
V164A |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
| Nxpe2 |
G |
A |
9: 48,237,632 (GRCm39) |
R208* |
probably null |
Het |
| Or1j1 |
C |
A |
2: 36,702,567 (GRCm39) |
C179F |
probably damaging |
Het |
| Or8g28 |
A |
G |
9: 39,169,737 (GRCm39) |
V77A |
possibly damaging |
Het |
| Pcdha12 |
C |
T |
18: 37,155,126 (GRCm39) |
A615V |
probably benign |
Het |
| Pou4f3 |
C |
G |
18: 42,528,563 (GRCm39) |
P169A |
probably benign |
Het |
| Pramel52-ps |
A |
T |
5: 94,531,805 (GRCm39) |
R230* |
probably null |
Het |
| Prss36 |
T |
C |
7: 127,533,673 (GRCm39) |
I556V |
probably benign |
Het |
| Psg23 |
A |
T |
7: 18,346,067 (GRCm39) |
D209E |
probably benign |
Het |
| Ptpn13 |
C |
A |
5: 103,676,675 (GRCm39) |
D679E |
probably damaging |
Het |
| Ptprz1 |
G |
T |
6: 23,002,202 (GRCm39) |
D1431Y |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,357,612 (GRCm39) |
Q721R |
probably benign |
Het |
| Spdye4b |
A |
G |
5: 143,182,055 (GRCm39) |
M118V |
probably damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,473,699 (GRCm39) |
S741T |
possibly damaging |
Het |
| Tbx18 |
A |
G |
9: 87,611,512 (GRCm39) |
|
probably null |
Het |
| Tm9sf4 |
T |
C |
2: 153,037,294 (GRCm39) |
F385S |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,954,432 (GRCm39) |
L1133* |
probably null |
Het |
| Trpm5 |
A |
G |
7: 142,633,131 (GRCm39) |
|
probably null |
Het |
| Ube4b |
A |
G |
4: 149,468,231 (GRCm39) |
S182P |
possibly damaging |
Het |
| Ugt2b36 |
T |
C |
5: 87,228,784 (GRCm39) |
T420A |
probably benign |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Zc3h6 |
T |
A |
2: 128,858,102 (GRCm39) |
I711K |
|
Het |
| Zer1 |
T |
C |
2: 29,991,050 (GRCm39) |
Y726C |
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 |
|
|
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 |
|
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'- ATTTCCTAGAGCTGGGTTTCC -3'
(R):5'- GCATGGCATTCTCACCAAATGG -3'
Sequencing Primer
(F):5'- AGAGCTGGGTTTCCTTTCTTAC -3'
(R):5'- GAACAGCTTTCAGTGTAATGTAGCCC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation