Incidental Mutation 'R9516:Cep112'
ID 718600
Institutional Source Beutler Lab
Gene Symbol Cep112
Ensembl Gene ENSMUSG00000020728
Gene Name centrosomal protein 112
Synonyms Macoco, Ccdc46, 8430407H02Rik, 1700029K01Rik, 1700001M19Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.590) question?
Stock # R9516 (G1)
Quality Score 209.009
Status Not validated
Chromosome 11
Chromosomal Location 108316041-108751441 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108648514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 783 (T783A)
Ref Sequence ENSEMBL: ENSMUSP00000138235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061287] [ENSMUST00000106715] [ENSMUST00000106718] [ENSMUST00000106724] [ENSMUST00000130515] [ENSMUST00000132978] [ENSMUST00000146912] [ENSMUST00000150863] [ENSMUST00000182729] [ENSMUST00000133670]
AlphaFold Q5PR68
Predicted Effect possibly damaging
Transcript: ENSMUST00000061287
AA Change: T825A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050597
Gene: ENSMUSG00000020728
AA Change: T825A

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: ENSMUST00000106715
AA Change: T44A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000102326
Gene: ENSMUSG00000020728
AA Change: T44A

DomainStartEndE-ValueType
coiled coil region 11 158 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106718
AA Change: T23A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102329
Gene: ENSMUSG00000020728
AA Change: T23A

DomainStartEndE-ValueType
coiled coil region 26 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106724
SMART Domains Protein: ENSMUSP00000102335
Gene: ENSMUSG00000020728

DomainStartEndE-ValueType
coiled coil region 64 102 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129814
Predicted Effect possibly damaging
Transcript: ENSMUST00000130515
AA Change: T825A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114569
Gene: ENSMUSG00000020728
AA Change: T825A

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: ENSMUST00000132978
AA Change: T82A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000138124
Gene: ENSMUSG00000020728
AA Change: T82A

DomainStartEndE-ValueType
coiled coil region 54 155 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000146912
AA Change: T210A

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120601
Gene: ENSMUSG00000020728
AA Change: T210A

DomainStartEndE-ValueType
coiled coil region 25 111 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150863
AA Change: T877A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000122509
Gene: ENSMUSG00000020728
AA Change: T877A

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 noncoding transcript
Transcript: ENSMUST00000151755
Predicted Effect probably damaging
Transcript: ENSMUST00000182729
AA Change: T783A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138235
Gene: ENSMUSG00000020728
AA Change: T783A

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 probably benign
Transcript: ENSMUST00000133670
SMART Domains Protein: ENSMUSP00000114627
Gene: ENSMUSG00000020728

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
Meta Mutation Damage Score 0.0607 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik T C 2: 150,153,122 (GRCm39) N88D possibly damaging Het
4933430I17Rik A G 4: 62,460,916 (GRCm39) I264V probably benign Het
Abcc8 A G 7: 45,787,429 (GRCm39) F591L probably benign Het
Abr G T 11: 76,310,658 (GRCm39) T810K probably damaging Het
Abracl T C 10: 17,894,631 (GRCm39) E6G unknown Het
Adamts3 A T 5: 89,834,750 (GRCm39) Y871N probably damaging Het
Akap13 T C 7: 75,354,275 (GRCm39) Y80H probably benign Het
Alas1 A G 9: 106,115,840 (GRCm39) probably null Het
Anapc1 A C 2: 128,517,633 (GRCm39) L337R possibly damaging Het
Apaf1 T C 10: 90,915,816 (GRCm39) Y24C probably damaging Het
Arhgef16 A G 4: 154,365,432 (GRCm39) V561A possibly damaging Het
Atp10b T A 11: 43,121,224 (GRCm39) H962Q probably benign Het
Brsk2 A G 7: 141,546,852 (GRCm39) T432A probably benign Het
C1rl T A 6: 124,485,802 (GRCm39) V391E probably damaging Het
Caps2 A T 10: 112,036,637 (GRCm39) H399L probably benign Het
Ccdc43 C A 11: 102,577,207 (GRCm39) K199N probably benign Het
Ccdc7a G T 8: 129,555,774 (GRCm39) P1198T unknown Het
Cct7 A G 6: 85,444,625 (GRCm39) Y423C possibly damaging Het
Cep250 A G 2: 155,833,459 (GRCm39) T1795A probably benign Het
Clasp1 T G 1: 118,431,560 (GRCm39) S397A possibly damaging Het
Clock A C 5: 76,377,227 (GRCm39) F691V possibly damaging Het
Cmklr1 A G 5: 113,752,341 (GRCm39) V220A probably benign Het
Coro2b A T 9: 62,335,291 (GRCm39) Y298* probably null Het
Cspg4b A T 13: 113,455,649 (GRCm39) N565I Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Dlk2 G A 17: 46,613,432 (GRCm39) G186D probably damaging Het
Dok1 T C 6: 83,009,972 (GRCm39) K46E probably damaging Het
Dok3 A G 13: 55,672,186 (GRCm39) I164T probably benign Het
Ercc5 T A 1: 44,207,041 (GRCm39) D651E probably damaging Het
Erp27 T C 6: 136,885,066 (GRCm39) K244R probably benign Het
Fhip1a G A 3: 85,580,559 (GRCm39) Q549* probably null Het
Flvcr2 T C 12: 85,793,954 (GRCm39) V110A possibly damaging Het
Gsta3 T C 1: 21,320,060 (GRCm39) L22P probably damaging Het
Hdac5 T C 11: 102,093,522 (GRCm39) T493A probably benign Het
Hivep2 T A 10: 14,005,523 (GRCm39) I707N probably benign Het
Hmox1 A G 8: 75,823,544 (GRCm39) N71D probably benign Het
Hnrnpr G T 4: 136,063,615 (GRCm39) V342F probably damaging Het
Ifi44 T C 3: 151,438,108 (GRCm39) D393G probably damaging Het
Ighv1-82 A T 12: 115,916,566 (GRCm39) F9I probably damaging Het
Kalrn A G 16: 33,854,864 (GRCm39) S1999P probably damaging Het
Kcnq2 A G 2: 180,776,753 (GRCm39) S45P probably benign Het
Krt77 A T 15: 101,769,779 (GRCm39) Y364N probably damaging Het
Kti12 T C 4: 108,705,476 (GRCm39) V130A probably benign Het
Lama2 T C 10: 27,100,015 (GRCm39) E830G probably benign Het
Lrrn1 T A 6: 107,545,505 (GRCm39) H434Q probably benign Het
Med13 A T 11: 86,179,801 (GRCm39) N1382K probably benign Het
Mrpl42 A G 10: 95,332,684 (GRCm39) probably null Het
Mtor A G 4: 148,569,103 (GRCm39) D1140G probably benign Het
Mtrr A G 13: 68,720,755 (GRCm39) I280T probably benign Het
Myh4 A T 11: 67,139,290 (GRCm39) I536F probably damaging Het
Myh4 T A 11: 67,141,129 (GRCm39) N730K probably damaging Het
Nat10 A C 2: 103,563,364 (GRCm39) L545R probably damaging Het
Nav3 T A 10: 109,520,015 (GRCm39) D2356V probably damaging Het
Nbea A T 3: 55,937,366 (GRCm39) S748R probably damaging Het
Nlrp1a T C 11: 70,998,488 (GRCm39) T904A probably benign Het
Nod2 A T 8: 89,397,050 (GRCm39) N820I probably damaging Het
Nptx1 A G 11: 119,433,381 (GRCm39) V406A probably damaging Het
Nrdc T A 4: 108,901,863 (GRCm39) I644K probably benign Het
Or4e1 T C 14: 52,700,873 (GRCm39) I198V probably benign Het
Ostf1 T A 19: 18,573,735 (GRCm39) I38F probably benign Het
Pacc1 G A 1: 191,082,004 (GRCm39) R337Q probably damaging Het
Pde4b G T 4: 102,462,183 (GRCm39) D605Y probably damaging Het
Pde4d A G 13: 109,397,196 (GRCm39) T3A Het
Pknox1 A G 17: 31,822,183 (GRCm39) I317V probably damaging Het
Plekhh2 A G 17: 84,918,240 (GRCm39) N1283S probably benign Het
Ppp3cb G A 14: 20,573,868 (GRCm39) A289V probably damaging Het
Prag1 A G 8: 36,607,208 (GRCm39) D983G probably damaging Het
Psmd13 C T 7: 140,478,455 (GRCm39) T62M Het
Rab42 C T 4: 132,029,890 (GRCm39) V111I Het
Rabl2 T A 15: 89,474,631 (GRCm39) probably null Het
Rapgef6 T A 11: 54,582,169 (GRCm39) S1365R probably damaging Het
Rassf4 G T 6: 116,617,265 (GRCm39) H247N possibly damaging Het
Rbfox1 A G 16: 7,227,573 (GRCm39) T363A probably benign Het
Rbmyf9 T A Y: 3,774,888 (GRCm39) F28L probably damaging Het
Sbf1 T C 15: 89,184,742 (GRCm39) D1091G probably damaging Het
Scaper A G 9: 55,593,275 (GRCm39) V454A probably benign Het
Selenbp2 G A 3: 94,607,352 (GRCm39) D258N probably benign Het
Sirpa A T 2: 129,457,555 (GRCm39) I210F probably damaging Het
Skint4 T C 4: 112,015,236 (GRCm39) S434P probably benign Het
Slc26a5 G A 5: 22,016,337 (GRCm39) Q682* probably null Het
Slco4a1 C T 2: 180,115,943 (GRCm39) S693F possibly damaging Het
Smpd3 A G 8: 106,992,119 (GRCm39) F145L probably benign Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Spata31d1c A T 13: 65,184,040 (GRCm39) L527F probably damaging Het
Srd5a3 A G 5: 76,297,794 (GRCm39) N199D probably benign Het
Stard9 C G 2: 120,534,564 (GRCm39) P3607R probably damaging Het
Sytl1 A G 4: 132,986,291 (GRCm39) probably null Het
Tas2r126 A G 6: 42,412,307 (GRCm39) H280R probably null Het
Tcf4 C T 18: 69,652,944 (GRCm39) probably benign Het
Tlcd2 A G 11: 75,359,112 (GRCm39) T28A probably damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmem119 A G 5: 113,933,267 (GRCm39) L178P probably damaging Het
Tmprss7 T C 16: 45,484,564 (GRCm39) D532G probably benign Het
Tnfaip8l3 A G 9: 53,934,777 (GRCm39) I66T probably benign Het
Tor1b A G 2: 30,843,185 (GRCm39) Y50C probably damaging Het
Tpp2 T A 1: 44,017,648 (GRCm39) S751T probably benign Het
Tpra1 T C 6: 88,887,221 (GRCm39) V193A probably benign Het
Trip12 A T 1: 84,735,215 (GRCm39) V932E probably damaging Het
Ttn T A 2: 76,777,104 (GRCm39) T1479S unknown Het
Unc13c A T 9: 73,392,220 (GRCm39) V2044D probably damaging Het
Usp25 T G 16: 76,852,076 (GRCm39) V197G probably damaging Het
Vmn2r34 A G 7: 7,675,366 (GRCm39) V674A probably benign Het
Zfp7 T C 15: 76,775,484 (GRCm39) S509P probably damaging Het
Zfp821 A G 8: 110,447,856 (GRCm39) T66A probably damaging Het
Zfp97 T A 17: 17,365,930 (GRCm39) N476K 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
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
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'- AGCAGTTGTTCACCATTCACAG -3'
(R):5'- CATGAAAGCAGCTGGTACCAC -3'

Sequencing Primer
(F):5'- ACCATTCACAGTTTTATTGGAGCC -3'
(R):5'- AGCAGCTGGTACCACTGGTTG -3'
Posted On 2022-07-18