Incidental Mutation 'R0908:Cep112'
ID 83399
Institutional Source Beutler Lab
Gene Symbol Cep112
Ensembl Gene ENSMUSG00000020728
Gene Name centrosomal protein 112
Synonyms Macoco, Ccdc46, 8430407H02Rik, 1700029K01Rik, 1700001M19Rik
MMRRC Submission 039066-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.590) question?
Stock # R0908 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 108316041-108751441 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108555323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 679 (V679A)
Ref Sequence ENSEMBL: ENSMUSP00000138235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061287] [ENSMUST00000130515] [ENSMUST00000133670] [ENSMUST00000146912] [ENSMUST00000150863] [ENSMUST00000182729]
AlphaFold Q5PR68
Predicted Effect probably benign
Transcript: ENSMUST00000061287
AA Change: V721A

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000050597
Gene: ENSMUSG00000020728
AA Change: V721A

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 noncoding transcript
Transcript: ENSMUST00000129814
Predicted Effect probably benign
Transcript: ENSMUST00000130515
AA Change: V721A

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114569
Gene: ENSMUSG00000020728
AA Change: V721A

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 benign
Transcript: ENSMUST00000133670
AA Change: V447A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000114627
Gene: ENSMUSG00000020728
AA Change: V447A

DomainStartEndE-ValueType
low complexity region 10 29 N/A INTRINSIC
internal_repeat_2 66 104 4.9e-5 PROSPERO
internal_repeat_1 81 110 2.63e-5 PROSPERO
coiled coil region 123 203 N/A INTRINSIC
internal_repeat_3 252 264 4.9e-5 PROSPERO
low complexity region 317 328 N/A INTRINSIC
internal_repeat_2 332 370 4.9e-5 PROSPERO
internal_repeat_3 532 544 4.9e-5 PROSPERO
internal_repeat_1 540 569 2.63e-5 PROSPERO
coiled coil region 571 609 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146912
AA Change: V106A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000120601
Gene: ENSMUSG00000020728
AA Change: V106A

DomainStartEndE-ValueType
coiled coil region 25 111 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150863
AA Change: V773A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000122509
Gene: ENSMUSG00000020728
AA Change: V773A

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 possibly damaging
Transcript: ENSMUST00000182729
AA Change: V679A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138235
Gene: ENSMUSG00000020728
AA Change: V679A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183042
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 95.1%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,775,838 (GRCm39) F1676I probably damaging Het
Afg2a T A 3: 37,485,772 (GRCm39) probably null Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Atp8b3 T C 10: 80,355,918 (GRCm39) T1265A probably benign Het
Cts8 A T 13: 61,398,730 (GRCm39) Y259N probably damaging Het
Depdc7 A G 2: 104,558,437 (GRCm39) S195P probably benign Het
Dio2 A T 12: 90,696,422 (GRCm39) C189S probably damaging Het
Dmc1 A G 15: 79,469,890 (GRCm39) L189P probably damaging Het
Ehmt1 A G 2: 24,694,900 (GRCm39) Y1016H probably damaging Het
Gle1 T C 2: 29,826,133 (GRCm39) S71P probably benign Het
Gykl1 T A 18: 52,828,441 (GRCm39) *550K probably null Het
Klhl32 T C 4: 24,682,092 (GRCm39) D197G probably damaging Het
Krt78 G A 15: 101,859,336 (GRCm39) T287M probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mrpl1 A T 5: 96,409,942 (GRCm39) I272L probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Or52e19 T C 7: 102,959,780 (GRCm39) V284A possibly damaging Het
Or8g23 T C 9: 38,971,243 (GRCm39) T240A probably damaging Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Pde5a A T 3: 122,572,650 (GRCm39) I344L probably benign Het
Prl7c1 A G 13: 27,957,717 (GRCm39) I241T possibly damaging Het
Rp1 T C 1: 4,414,878 (GRCm39) E2078G probably benign Het
Scamp3 T C 3: 89,086,746 (GRCm39) probably null Het
Septin8 A G 11: 53,428,697 (GRCm39) H414R probably benign Het
Spef2 T A 15: 9,614,281 (GRCm39) probably null Het
Txlnb A G 10: 17,674,925 (GRCm39) N26S probably damaging Het
Vmn1r11 G T 6: 57,115,049 (GRCm39) V201L probably 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
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
R8681:Cep112 UTSW 11 108,316,478 (GRCm39) critical splice donor site probably null
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'- ATGTTCCTCCCCACATGGCATTTAG -3'
(R):5'- TTCTCCAGAGTCATCTCGGTCTCAG -3'

Sequencing Primer
(F):5'- CATTTAGCTCTAGGTGGGACCAG -3'
(R):5'- TCTCAGCAGCGTGTGTC -3'
Posted On 2013-11-08