Incidental Mutation 'R6435:Sdccag8'
ID 518733
Institutional Source Beutler Lab
Gene Symbol Sdccag8
Ensembl Gene ENSMUSG00000026504
Gene Name serologically defined colon cancer antigen 8
Synonyms CCCAP, 2700048G21Rik, 5730470G24Rik
MMRRC Submission 044573-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6435 (G1)
Quality Score 149.008
Status Not validated
Chromosome 1
Chromosomal Location 176642226-176848003 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 176642428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027785] [ENSMUST00000056773] [ENSMUST00000123409] [ENSMUST00000192961] [ENSMUST00000195717]
AlphaFold Q80UF4
Predicted Effect probably benign
Transcript: ENSMUST00000027785
SMART Domains Protein: ENSMUSP00000027785
Gene: ENSMUSG00000026504

DomainStartEndE-ValueType
Pfam:CCCAP 6 710 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056773
SMART Domains Protein: ENSMUSP00000050667
Gene: ENSMUSG00000026504

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000123409
SMART Domains Protein: ENSMUSP00000137948
Gene: ENSMUSG00000026504

DomainStartEndE-ValueType
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: ENSMUST00000150429
Predicted Effect probably benign
Transcript: ENSMUST00000192961
SMART Domains Protein: ENSMUSP00000142271
Gene: ENSMUSG00000057335

DomainStartEndE-ValueType
FHA 22 73 1.27e-7 SMART
low complexity region 118 133 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195717
SMART Domains Protein: ENSMUSP00000141769
Gene: ENSMUSG00000057335

DomainStartEndE-ValueType
FHA 22 73 1.27e-7 SMART
low complexity region 118 133 N/A INTRINSIC
low complexity region 717 731 N/A INTRINSIC
low complexity region 738 750 N/A INTRINSIC
low complexity region 770 782 N/A INTRINSIC
Pfam:CEP170_C 795 1499 1.8e-261 PFAM
low complexity region 1533 1545 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 100% (32/32)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A T 2: 31,691,561 (GRCm39) T1027S possibly damaging Het
Ablim1 T C 19: 57,049,787 (GRCm39) I159V possibly damaging Het
Adcy1 A G 11: 7,111,367 (GRCm39) N886S possibly damaging Het
Baz1b G A 5: 135,266,799 (GRCm39) D1203N probably damaging Het
Chmp2a A T 7: 12,766,701 (GRCm39) Y72* probably null Het
Col6a1 A T 10: 76,546,957 (GRCm39) I755N unknown Het
Defa24 T A 8: 22,224,690 (GRCm39) F46L possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Gcn1 A T 5: 115,749,081 (GRCm39) probably null Het
Gfpt2 A G 11: 49,726,478 (GRCm39) S628G probably benign Het
Hsdl2 C A 4: 59,610,668 (GRCm39) Q222K unknown Het
Ighv1-9 T A 12: 114,547,206 (GRCm39) I111F probably benign Het
Itch G A 2: 155,051,049 (GRCm39) D579N probably benign Het
Jdp2 A T 12: 85,655,132 (GRCm39) K65M probably damaging Het
Kif15 A T 9: 122,815,556 (GRCm39) E222V probably damaging Het
Map1b A G 13: 99,652,871 (GRCm39) V42A probably damaging Het
Mecom T A 3: 30,034,398 (GRCm39) E426V probably damaging Het
Meiosin T C 7: 18,834,844 (GRCm39) probably benign Het
Mfsd6 G T 1: 52,748,603 (GRCm39) Y87* probably null Het
Mybpc2 A G 7: 44,155,481 (GRCm39) V924A possibly damaging Het
Naip6 A T 13: 100,431,249 (GRCm39) M1196K probably benign Het
Nscme3l T C 19: 5,553,446 (GRCm39) I112V probably benign Het
Or52n5 A G 7: 104,588,041 (GRCm39) M103V probably damaging Het
Pcdh9 G A 14: 94,125,280 (GRCm39) P297S probably benign Het
Pold1 G A 7: 44,188,202 (GRCm39) R559C probably damaging Het
Rgs21 A G 1: 144,395,565 (GRCm39) F108L probably damaging Het
Runx1 A T 16: 92,441,183 (GRCm39) S209T possibly damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Srgap1 T C 10: 121,636,732 (GRCm39) D741G possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Homo
Tsc1 G A 2: 28,566,464 (GRCm39) V627M probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp612 A G 8: 110,815,952 (GRCm39) I347M probably damaging Het
Other mutations in Sdccag8
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Posted On 2018-05-24