Incidental Mutation 'R8681:Cep112'
ID 661763
Institutional Source Beutler Lab
Gene Symbol Cep112
Ensembl Gene ENSMUSG00000020728
Gene Name centrosomal protein 112
Synonyms Macoco, Ccdc46, 8430407H02Rik, 1700029K01Rik, 1700001M19Rik
MMRRC Submission 068536-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.590) question?
Stock # R8681 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 108316041-108751441 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 108316478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061287] [ENSMUST00000130515] [ENSMUST00000138538] [ENSMUST00000138538] [ENSMUST00000149683] [ENSMUST00000150863] [ENSMUST00000182729]
AlphaFold Q5PR68
Predicted Effect probably benign
Transcript: ENSMUST00000061287
SMART Domains Protein: ENSMUSP00000050597
Gene: ENSMUSG00000020728

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 benign
Transcript: ENSMUST00000130515
SMART Domains Protein: ENSMUSP00000114569
Gene: ENSMUSG00000020728

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 null
Transcript: ENSMUST00000138538
SMART Domains Protein: ENSMUSP00000117192
Gene: ENSMUSG00000020728

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 probably null
Transcript: ENSMUST00000138538
SMART Domains Protein: ENSMUSP00000117192
Gene: ENSMUSG00000020728

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 probably benign
Transcript: ENSMUST00000149683
SMART Domains Protein: ENSMUSP00000114452
Gene: ENSMUSG00000020728

DomainStartEndE-ValueType
Pfam:DUF4485 12 99 5.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150863
SMART Domains Protein: ENSMUSP00000122509
Gene: ENSMUSG00000020728

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 benign
Transcript: ENSMUST00000182729
SMART Domains Protein: ENSMUSP00000138235
Gene: ENSMUSG00000020728

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A G 8: 87,231,908 (GRCm39) V1347A possibly damaging Het
Adam32 G A 8: 25,327,811 (GRCm39) T750I unknown Het
Adcy1 T C 11: 7,111,328 (GRCm39) I873T probably damaging Het
Aebp1 A G 11: 5,817,899 (GRCm39) D438G probably null Het
Anks1b T A 10: 89,885,868 (GRCm39) M188K probably damaging Het
Aopep T C 13: 63,338,373 (GRCm39) F583S probably damaging Het
Arhgef18 A G 8: 3,439,074 (GRCm39) Y477C unknown Het
Clu T C 14: 66,218,406 (GRCm39) V422A probably damaging Het
Cntrl T C 2: 35,038,600 (GRCm39) L1050P probably damaging Het
Col23a1 A T 11: 51,458,756 (GRCm39) T298S possibly damaging Het
Cyp26c1 A T 19: 37,675,065 (GRCm39) T129S probably damaging Het
Cyp2c38 A C 19: 39,390,135 (GRCm39) V355G possibly damaging Het
Cyp4a30b G A 4: 115,314,942 (GRCm39) V175M possibly damaging Het
Cyp7a1 A T 4: 6,271,207 (GRCm39) N316K probably benign Het
Dcaf17 T A 2: 70,886,913 (GRCm39) Y67* probably null Het
Dll3 T C 7: 27,994,270 (GRCm39) D389G probably damaging Het
Fbxo33 A G 12: 59,265,830 (GRCm39) F146L probably benign Het
Gm10118 C T 10: 63,762,756 (GRCm39) V61M unknown Het
Gm9611 T C 14: 42,118,026 (GRCm39) D102G Het
Grik5 G A 7: 24,709,897 (GRCm39) A946V probably benign Het
Il17c A G 8: 123,150,207 (GRCm39) D150G possibly damaging Het
Ino80e A G 7: 126,460,893 (GRCm39) L22P probably damaging Het
Kcnh2 G T 5: 24,536,981 (GRCm39) T201K probably benign Het
Klrb1 A C 6: 128,687,012 (GRCm39) N173K possibly damaging Het
Kmt2d T A 15: 98,743,948 (GRCm39) Q3737H unknown Het
Lemd3 T C 10: 120,767,728 (GRCm39) D682G possibly damaging Het
Lilra5 T C 7: 4,241,216 (GRCm39) V51A probably benign Het
Lrrc25 G A 8: 71,070,314 (GRCm39) V32I possibly damaging Het
Mdh1b T A 1: 63,754,360 (GRCm39) M403L probably benign Het
Mms19 G A 19: 41,937,915 (GRCm39) L765F probably damaging Het
Msx3 T A 7: 139,628,900 (GRCm39) T5S probably benign Het
Myh13 A C 11: 67,242,960 (GRCm39) I958L possibly damaging Het
Myo18b T A 5: 113,021,429 (GRCm39) probably null Het
Myo9a G A 9: 59,775,394 (GRCm39) V1002I probably benign Het
Neb T C 2: 52,127,048 (GRCm39) K379R probably damaging Het
Nsmce2 A G 15: 59,473,208 (GRCm39) S216G probably benign Het
Odad1 A G 7: 45,591,263 (GRCm39) E246G probably damaging Het
Or11h7 A T 14: 50,890,801 (GRCm39) M36L probably benign Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Pkp2 A T 16: 16,048,545 (GRCm39) M317L probably benign Het
Pogz T A 3: 94,768,234 (GRCm39) H137Q probably damaging Het
Prrx2 G T 2: 30,735,519 (GRCm39) D25Y unknown Het
Ptprf T C 4: 118,088,844 (GRCm39) D653G probably benign Het
Rps6kl1 T A 12: 85,194,629 (GRCm39) E94V probably damaging Het
Slc44a1 A T 4: 53,481,510 (GRCm39) D27V probably damaging Het
Slc44a4 A G 17: 35,147,253 (GRCm39) I549V possibly damaging Het
Slc8a3 T C 12: 81,361,914 (GRCm39) T302A probably benign Het
Spic T A 10: 88,511,847 (GRCm39) K136N possibly damaging Het
Stk36 T C 1: 74,661,392 (GRCm39) L473P probably damaging Het
Syce1 G A 7: 140,361,987 (GRCm39) T32I possibly damaging Het
Tars2 G A 3: 95,658,199 (GRCm39) Q209* probably null Het
Tmem9b A G 7: 109,344,527 (GRCm39) V100A probably benign Het
Vmn1r67 A G 7: 10,181,128 (GRCm39) I131V probably benign Het
Vmn2r26 C T 6: 124,001,877 (GRCm39) T54I probably benign Het
Zfp142 T C 1: 74,610,747 (GRCm39) E1016G probably damaging Het
Zfp773 T C 7: 7,139,482 (GRCm39) T56A possibly damaging Het
Other mutations in Cep112
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00679:Cep112 APN 11 108,481,879 (GRCm39) missense probably damaging 1.00
IGL00705:Cep112 APN 11 108,362,859 (GRCm39) missense probably benign
IGL00848:Cep112 APN 11 108,362,886 (GRCm39) missense probably damaging 1.00
IGL00975:Cep112 APN 11 108,325,012 (GRCm39) missense probably damaging 1.00
IGL01085:Cep112 APN 11 108,377,432 (GRCm39) missense probably damaging 1.00
IGL01286:Cep112 APN 11 108,750,235 (GRCm39) critical splice donor site probably null
IGL01536:Cep112 APN 11 108,422,237 (GRCm39) missense probably null 0.08
IGL02622:Cep112 APN 11 108,409,509 (GRCm39) missense probably benign 0.26
IGL02720:Cep112 APN 11 108,750,177 (GRCm39) missense probably damaging 0.98
FR4976:Cep112 UTSW 11 108,316,178 (GRCm39) unclassified probably benign
PIT4466001:Cep112 UTSW 11 108,410,722 (GRCm39) missense probably benign
R0727:Cep112 UTSW 11 108,397,380 (GRCm39) missense probably damaging 1.00
R0907:Cep112 UTSW 11 108,461,258 (GRCm39) splice site probably benign
R0908:Cep112 UTSW 11 108,555,323 (GRCm39) missense possibly damaging 0.69
R1236:Cep112 UTSW 11 108,750,200 (GRCm39) missense probably damaging 1.00
R1514:Cep112 UTSW 11 108,362,880 (GRCm39) missense probably damaging 1.00
R2049:Cep112 UTSW 11 108,497,151 (GRCm39) missense probably damaging 0.96
R2058:Cep112 UTSW 11 108,410,087 (GRCm39) critical splice donor site probably null
R2059:Cep112 UTSW 11 108,410,087 (GRCm39) critical splice donor site probably null
R2126:Cep112 UTSW 11 108,399,084 (GRCm39) missense probably damaging 0.98
R2142:Cep112 UTSW 11 108,497,151 (GRCm39) missense probably damaging 0.96
R2196:Cep112 UTSW 11 108,461,187 (GRCm39) missense probably damaging 0.98
R2276:Cep112 UTSW 11 108,746,671 (GRCm39) missense probably damaging 1.00
R2414:Cep112 UTSW 11 108,643,408 (GRCm39) missense possibly damaging 0.91
R2655:Cep112 UTSW 11 108,328,027 (GRCm39) splice site probably benign
R2882:Cep112 UTSW 11 108,410,038 (GRCm39) missense possibly damaging 0.94
R3001:Cep112 UTSW 11 108,331,329 (GRCm39) missense probably damaging 1.00
R3002:Cep112 UTSW 11 108,331,329 (GRCm39) missense probably damaging 1.00
R3003:Cep112 UTSW 11 108,331,329 (GRCm39) missense probably damaging 1.00
R4407:Cep112 UTSW 11 108,410,027 (GRCm39) missense possibly damaging 0.93
R4796:Cep112 UTSW 11 108,377,818 (GRCm39) critical splice donor site probably null
R4898:Cep112 UTSW 11 108,397,471 (GRCm39) missense probably damaging 0.96
R4899:Cep112 UTSW 11 108,497,110 (GRCm39) missense probably damaging 0.96
R4977:Cep112 UTSW 11 108,325,062 (GRCm39) missense probably damaging 0.97
R5021:Cep112 UTSW 11 108,361,154 (GRCm39) missense possibly damaging 0.86
R5186:Cep112 UTSW 11 108,643,386 (GRCm39) missense probably benign 0.00
R5462:Cep112 UTSW 11 108,409,570 (GRCm39) missense probably damaging 1.00
R5494:Cep112 UTSW 11 108,555,431 (GRCm39) missense probably damaging 1.00
R5506:Cep112 UTSW 11 108,555,429 (GRCm39) missense probably damaging 1.00
R5560:Cep112 UTSW 11 108,328,061 (GRCm39) missense probably damaging 1.00
R5682:Cep112 UTSW 11 108,361,138 (GRCm39) missense probably damaging 1.00
R5857:Cep112 UTSW 11 108,422,297 (GRCm39) splice site probably benign
R5863:Cep112 UTSW 11 108,497,058 (GRCm39) missense probably damaging 1.00
R5884:Cep112 UTSW 11 108,461,142 (GRCm39) missense probably damaging 0.99
R5913:Cep112 UTSW 11 108,648,514 (GRCm39) missense probably damaging 0.99
R6344:Cep112 UTSW 11 108,410,000 (GRCm39) missense probably damaging 0.98
R6498:Cep112 UTSW 11 108,331,357 (GRCm39) missense probably benign 0.25
R6611:Cep112 UTSW 11 108,397,377 (GRCm39) missense possibly damaging 0.71
R6638:Cep112 UTSW 11 108,746,696 (GRCm39) missense probably damaging 1.00
R6916:Cep112 UTSW 11 108,750,202 (GRCm39) missense probably damaging 1.00
R7182:Cep112 UTSW 11 108,573,670 (GRCm39) missense probably benign 0.07
R7262:Cep112 UTSW 11 108,555,467 (GRCm39) missense probably damaging 0.99
R7386:Cep112 UTSW 11 108,699,507 (GRCm39) missense probably benign 0.00
R7539:Cep112 UTSW 11 108,746,654 (GRCm39) missense probably benign 0.38
R8262:Cep112 UTSW 11 108,393,977 (GRCm39) missense probably damaging 1.00
R8845:Cep112 UTSW 11 108,461,193 (GRCm39) missense probably damaging 1.00
R8955:Cep112 UTSW 11 108,643,260 (GRCm39) missense possibly damaging 0.61
R9213:Cep112 UTSW 11 108,377,779 (GRCm39) missense probably benign
R9348:Cep112 UTSW 11 108,328,076 (GRCm39) missense probably damaging 0.97
R9516:Cep112 UTSW 11 108,648,514 (GRCm39) missense probably damaging 0.99
R9771:Cep112 UTSW 11 108,573,517 (GRCm39) intron probably benign
R9784:Cep112 UTSW 11 108,461,217 (GRCm39) missense probably damaging 1.00
Z1176:Cep112 UTSW 11 108,316,136 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTACTCCCAGGTTCTGAG -3'
(R):5'- GTTCATCAGGACTTTCTCGGAG -3'

Sequencing Primer
(F):5'- CCCAGGTTCTGAGTGGAATTTTGC -3'
(R):5'- AGTCGGCCTGCAGTCTGATTC -3'
Posted On 2021-03-08