Incidental Mutation 'IGL00848:Cep112'
ID9448
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep112
Ensembl Gene ENSMUSG00000020728
Gene Namecentrosomal protein 112
SynonymsMacoco, 8430407H02Rik, Ccdc46, 1700001M19Rik, 1700029K01Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.325) question?
Stock #IGL00848
Quality Score
Status
Chromosome11
Chromosomal Location108425192-108860615 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108472060 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 202 (D202G)
Ref Sequence ENSEMBL: ENSMUSP00000138235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061287] [ENSMUST00000130515] [ENSMUST00000138538] [ENSMUST00000150863] [ENSMUST00000182729]
Predicted Effect probably damaging
Transcript: ENSMUST00000061287
AA Change: D202G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050597
Gene: ENSMUSG00000020728
AA Change: D202G

DomainStartEndE-ValueType
Pfam:DUF4485 13 98 4.8e-31 PFAM
coiled coil region 275 341 N/A INTRINSIC
coiled coil region 397 477 N/A INTRINSIC
coiled coil region 504 954 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000130515
AA Change: D202G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114569
Gene: ENSMUSG00000020728
AA Change: D202G

DomainStartEndE-ValueType
Pfam:DUF4485 12 99 5.8e-31 PFAM
coiled coil region 275 341 N/A INTRINSIC
coiled coil region 397 477 N/A INTRINSIC
coiled coil region 504 954 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000138538
AA Change: D202G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117192
Gene: ENSMUSG00000020728
AA Change: D202G

DomainStartEndE-ValueType
Pfam:DUF4485 12 99 6.7e-28 PFAM
coiled coil region 275 341 N/A INTRINSIC
coiled coil region 397 477 N/A INTRINSIC
coiled coil region 504 532 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143212
Predicted Effect possibly damaging
Transcript: ENSMUST00000150863
AA Change: D254G

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122509
Gene: ENSMUSG00000020728
AA Change: D254G

DomainStartEndE-ValueType
Pfam:DUF4485 12 99 6.8e-28 PFAM
coiled coil region 275 341 N/A INTRINSIC
coiled coil region 397 477 N/A INTRINSIC
coiled coil region 504 566 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000182729
AA Change: D202G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138235
Gene: ENSMUSG00000020728
AA Change: D202G

DomainStartEndE-ValueType
Pfam:DUF4485 12 99 5.4e-31 PFAM
coiled coil region 233 299 N/A INTRINSIC
coiled coil region 355 435 N/A INTRINSIC
coiled coil region 462 912 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,246,724 E869G probably damaging Het
A930011G23Rik A G 5: 99,222,378 F508L probably damaging Het
Adgra3 C T 5: 50,001,949 G320R probably damaging Het
Arhgef40 G A 14: 51,987,427 V10M probably damaging Het
Birc6 C T 17: 74,696,393 Q4739* probably null Het
Cdh20 C T 1: 104,934,256 H54Y probably benign Het
Cfhr2 T A 1: 139,831,232 T27S probably benign Het
Copa T A 1: 172,110,688 C523S possibly damaging Het
Copz1 T A 15: 103,298,749 probably benign Het
Crybg1 A C 10: 43,967,818 probably null Het
Cyp3a11 A T 5: 145,862,465 I304N probably damaging Het
Eif2d C T 1: 131,164,436 Q315* probably null Het
Fgfr4 A G 13: 55,159,170 E224G probably damaging Het
Fndc3b A T 3: 27,451,509 L870Q probably damaging Het
Glt8d2 C T 10: 82,662,165 probably null Het
Gpat3 A T 5: 100,893,144 M357L probably benign Het
Hrnr A T 3: 93,322,897 K147N unknown Het
Kbtbd3 T A 9: 4,331,184 S519R probably damaging Het
Kcnv1 A G 15: 45,113,228 I221T probably benign Het
Khdrbs2 C T 1: 32,472,752 A266V probably benign Het
Lmtk2 A G 5: 144,176,398 E1312G probably benign Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Mos T C 4: 3,871,459 N119S probably damaging Het
Mtpap C T 18: 4,380,717 H132Y probably benign Het
Myo18b G A 5: 112,871,485 T642I probably damaging Het
Myo5c A G 9: 75,289,181 E1303G probably benign Het
Napepld A T 5: 21,683,193 M86K probably benign Het
Nvl T A 1: 181,105,125 D709V probably damaging Het
Pak1ip1 A T 13: 41,012,623 E341D probably benign Het
Pgghg G A 7: 140,942,404 G32D probably damaging Het
Phlpp1 G A 1: 106,376,255 R1096H probably damaging Het
Phlpp1 C T 1: 106,339,448 T697M probably damaging Het
Piwil4 T G 9: 14,727,411 T273P probably damaging Het
Pkd2l1 A T 19: 44,192,279 probably benign Het
Polr3b A G 10: 84,680,377 D623G probably damaging Het
Pop1 A G 15: 34,508,729 T317A probably benign Het
Prune2 A T 19: 17,119,118 K662I probably damaging Het
Ptger4 T C 15: 5,235,108 I356V probably benign Het
Rhbdd1 T C 1: 82,340,444 L16P possibly damaging Het
Rps11 C T 7: 45,123,501 R22Q probably benign Het
Sfxn2 A T 19: 46,590,157 I204F probably damaging Het
Slc26a9 C T 1: 131,757,528 S365F probably damaging Het
Slc47a2 C T 11: 61,302,233 V565M probably benign Het
Spns1 T C 7: 126,371,242 probably null Het
Stk3 T A 15: 35,114,622 E48V possibly damaging Het
Svs3b T C 2: 164,256,101 E100G probably damaging Het
Tjp1 T C 7: 65,303,194 Q1464R probably benign Het
Tspan10 T C 11: 120,444,270 S69P probably benign Het
Usp32 T C 11: 85,051,181 probably benign Het
Vps45 G T 3: 96,056,973 probably benign Het
Zfp106 A T 2: 120,512,727 N1790K probably damaging Het
Zfp704 A T 3: 9,565,239 S21T possibly damaging Het
Other mutations in Cep112
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00679:Cep112 APN 11 108591053 missense probably damaging 1.00
IGL00705:Cep112 APN 11 108472033 missense probably benign
IGL00975:Cep112 APN 11 108434186 missense probably damaging 1.00
IGL01085:Cep112 APN 11 108486606 missense probably damaging 1.00
IGL01286:Cep112 APN 11 108859409 critical splice donor site probably null
IGL01536:Cep112 APN 11 108531411 missense probably null 0.08
IGL02622:Cep112 APN 11 108518683 missense probably benign 0.26
IGL02720:Cep112 APN 11 108859351 missense probably damaging 0.98
FR4976:Cep112 UTSW 11 108425352 unclassified probably benign
PIT4466001:Cep112 UTSW 11 108519896 missense probably benign
R0727:Cep112 UTSW 11 108506554 missense probably damaging 1.00
R0907:Cep112 UTSW 11 108570432 splice site probably benign
R0908:Cep112 UTSW 11 108664497 missense possibly damaging 0.69
R1236:Cep112 UTSW 11 108859374 missense probably damaging 1.00
R1514:Cep112 UTSW 11 108472054 missense probably damaging 1.00
R2049:Cep112 UTSW 11 108606325 missense probably damaging 0.96
R2058:Cep112 UTSW 11 108519261 critical splice donor site probably null
R2059:Cep112 UTSW 11 108519261 critical splice donor site probably null
R2126:Cep112 UTSW 11 108508258 missense probably damaging 0.98
R2142:Cep112 UTSW 11 108606325 missense probably damaging 0.96
R2196:Cep112 UTSW 11 108570361 missense probably damaging 0.98
R2276:Cep112 UTSW 11 108855845 missense probably damaging 1.00
R2414:Cep112 UTSW 11 108752582 missense possibly damaging 0.91
R2655:Cep112 UTSW 11 108437201 splice site probably benign
R2882:Cep112 UTSW 11 108519212 missense possibly damaging 0.94
R3001:Cep112 UTSW 11 108440503 missense probably damaging 1.00
R3002:Cep112 UTSW 11 108440503 missense probably damaging 1.00
R3003:Cep112 UTSW 11 108440503 missense probably damaging 1.00
R4407:Cep112 UTSW 11 108519201 missense possibly damaging 0.93
R4796:Cep112 UTSW 11 108486992 critical splice donor site probably null
R4898:Cep112 UTSW 11 108506645 missense probably damaging 0.96
R4899:Cep112 UTSW 11 108606284 missense probably damaging 0.96
R4977:Cep112 UTSW 11 108434236 missense probably damaging 0.97
R5021:Cep112 UTSW 11 108470328 missense possibly damaging 0.86
R5186:Cep112 UTSW 11 108752560 missense probably benign 0.00
R5462:Cep112 UTSW 11 108518744 missense probably damaging 1.00
R5494:Cep112 UTSW 11 108664605 missense probably damaging 1.00
R5506:Cep112 UTSW 11 108664603 missense probably damaging 1.00
R5560:Cep112 UTSW 11 108437235 missense probably damaging 1.00
R5682:Cep112 UTSW 11 108470312 missense probably damaging 1.00
R5857:Cep112 UTSW 11 108531471 splice site probably benign
R5863:Cep112 UTSW 11 108606232 missense probably damaging 1.00
R5884:Cep112 UTSW 11 108570316 missense probably damaging 0.99
R5913:Cep112 UTSW 11 108757688 missense probably damaging 0.99
R6344:Cep112 UTSW 11 108519174 missense probably damaging 0.98
R6498:Cep112 UTSW 11 108440531 missense probably benign 0.25
R6611:Cep112 UTSW 11 108506551 missense possibly damaging 0.71
R6638:Cep112 UTSW 11 108855870 missense probably damaging 1.00
R6916:Cep112 UTSW 11 108859376 missense probably damaging 1.00
Posted On2012-12-06