Incidental Mutation 'R7331:Sdccag8'
ID569221
Institutional Source Beutler Lab
Gene Symbol Sdccag8
Ensembl Gene ENSMUSG00000026504
Gene Nameserologically defined colon cancer antigen 8
SynonymsCCCAP, 2700048G21Rik, 5730470G24Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7331 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location176814660-177020437 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to G at 176868290 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Glutamic Acid at position 387 (Q387E)
Ref Sequence ENSEMBL: ENSMUSP00000027785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027785] [ENSMUST00000123409]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027785
AA Change: Q387E

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027785
Gene: ENSMUSG00000026504
AA Change: Q387E

DomainStartEndE-ValueType
Pfam:CCCAP 6 710 N/A PFAM
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (48/48)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,183,609 H47L possibly damaging Het
Adgrf5 T C 17: 43,437,593 S438P probably damaging Het
Atg16l2 C A 7: 101,299,048 K96N probably damaging Het
Bglap2 A T 3: 88,378,260 M35K possibly damaging Het
Btbd1 T A 7: 81,815,972 I209L probably damaging Het
Cdc34 T C 10: 79,685,312 Y148H probably damaging Het
Clcc1 A G 3: 108,668,078 D157G probably damaging Het
Csmd2 A T 4: 128,564,228 probably null Het
Ctsj G A 13: 61,003,831 S90L probably benign Het
Cycs A G 6: 50,565,552 F37L probably benign Het
Dync2li1 T A 17: 84,647,658 C248* probably null Het
Dzank1 A T 2: 144,490,270 I382N probably benign Het
Enpp2 T C 15: 54,875,670 I406V probably damaging Het
Ero1lb A G 13: 12,600,126 E282G probably damaging Het
Fam192a T A 8: 94,582,936 K143* probably null Het
Fastkd5 A T 2: 130,615,727 N314K possibly damaging Het
Fbxo18 A T 2: 11,763,986 C300S probably benign Het
Fchsd1 T C 18: 37,968,770 I49V possibly damaging Het
Foxn1 A G 11: 78,358,789 Y637H probably damaging Het
Gabarap A G 11: 69,994,472 E101G possibly damaging Het
Gm5580 G A 6: 116,552,169 V336I probably benign Het
Gm7247 A G 14: 51,364,335 R22G probably damaging Het
Gm7694 A T 1: 170,301,611 D116E possibly damaging Het
Gm9508 A G 10: 77,696,795 C147R unknown Het
Gpr152 A G 19: 4,142,609 M50V probably damaging Het
Hunk T A 16: 90,472,562 N331K possibly damaging Het
Il1r2 A G 1: 40,123,249 T351A probably benign Het
Iqub A G 6: 24,500,394 V287A possibly damaging Het
Lix1 A T 17: 17,427,212 T47S probably benign Het
Lrp1b A T 2: 40,663,610 probably null Het
Nup107 G A 10: 117,770,198 T500I probably damaging Het
Phf21b G C 15: 84,791,094 R405G probably benign Het
Piezo2 A G 18: 63,108,030 V709A probably damaging Het
Rfc1 T C 5: 65,311,044 T109A probably damaging Het
Rpa1 A G 11: 75,313,115 V302A probably damaging Het
Ryr2 A G 13: 11,745,631 I1522T probably benign Het
Ryr3 C A 2: 112,763,665 R2578L possibly damaging Het
Scgb2b18 C T 7: 33,173,256 W41* probably null Het
Slc25a17 G A 15: 81,329,145 T119M probably damaging Het
Slc45a4 G T 15: 73,605,640 Q16K probably benign Het
Slc4a1 G A 11: 102,361,419 probably benign Het
Slc7a14 T C 3: 31,257,731 T47A probably benign Het
Stard6 A G 18: 70,483,482 R71G probably damaging Het
Tecr A G 8: 83,571,935 V321A probably damaging Het
Ttc3 T A 16: 94,394,359 F290L probably benign Het
Uqcc1 A G 2: 155,911,811 V48A probably benign Het
V1rd19 T A 7: 24,003,883 I258N probably damaging Het
Zar1 T A 5: 72,580,312 E249V possibly damaging Het
Zfp101 T C 17: 33,382,585 T66A possibly damaging Het
Zyx A G 6: 42,351,659 H230R probably benign Het
Other mutations in Sdccag8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00951:Sdccag8 APN 1 176878002 missense possibly damaging 0.67
IGL01446:Sdccag8 APN 1 176845245 missense probably damaging 1.00
IGL01794:Sdccag8 APN 1 176845307 missense possibly damaging 0.69
IGL02179:Sdccag8 APN 1 176878056 missense probably benign 0.19
IGL02313:Sdccag8 APN 1 176824755 missense possibly damaging 0.48
IGL02962:Sdccag8 APN 1 176948362 missense probably damaging 1.00
R0433:Sdccag8 UTSW 1 176844821 splice site probably null
R0762:Sdccag8 UTSW 1 176946144 missense probably benign 0.05
R1928:Sdccag8 UTSW 1 176828970 missense probably damaging 1.00
R2132:Sdccag8 UTSW 1 176955889 missense probably damaging 1.00
R2342:Sdccag8 UTSW 1 176919641 missense probably benign 0.26
R2964:Sdccag8 UTSW 1 176948371 missense possibly damaging 0.93
R3800:Sdccag8 UTSW 1 176868338 nonsense probably null
R3853:Sdccag8 UTSW 1 176853795 missense probably damaging 1.00
R4409:Sdccag8 UTSW 1 176868366 critical splice donor site probably null
R4590:Sdccag8 UTSW 1 176948292 missense probably damaging 1.00
R5036:Sdccag8 UTSW 1 177011975 missense probably damaging 0.99
R5083:Sdccag8 UTSW 1 176824892 missense probably damaging 1.00
R5174:Sdccag8 UTSW 1 176845350 missense probably damaging 0.99
R5739:Sdccag8 UTSW 1 176826231 missense probably benign 0.00
R5740:Sdccag8 UTSW 1 176831150 missense probably benign 0.02
R5898:Sdccag8 UTSW 1 176824822 missense probably benign 0.09
R6435:Sdccag8 UTSW 1 176814862 unclassified probably benign
R6624:Sdccag8 UTSW 1 176874812 intron probably null
R6763:Sdccag8 UTSW 1 176854627 intron probably null
R6877:Sdccag8 UTSW 1 177011935 missense probably damaging 1.00
R7130:Sdccag8 UTSW 1 176874601 missense probably damaging 0.97
R7393:Sdccag8 UTSW 1 176840306 missense probably benign 0.00
X0024:Sdccag8 UTSW 1 176919629 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTGGAAAGCAGTCATCCAAGTG -3'
(R):5'- GTTGTGCCACCTTCCTTGATAGG -3'

Sequencing Primer
(F):5'- GACTGTAGAAGGTGTTTGAACTATC -3'
(R):5'- CCTTGATAGGAAGGGCTAAAACTGTG -3'
Posted On2019-09-13