Incidental Mutation 'IGL03000:Cep192'
ID 407270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep192
Ensembl Gene ENSMUSG00000024542
Gene Name centrosomal protein 192
Synonyms D430014P18Rik, 4631422C13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03000
Quality Score
Status
Chromosome 18
Chromosomal Location 67933177-68018241 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67985115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1658 (I1658V)
Ref Sequence ENSEMBL: ENSMUSP00000025425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025425]
AlphaFold E9Q4Y4
Predicted Effect probably damaging
Transcript: ENSMUST00000025425
AA Change: I1658V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: I1658V

DomainStartEndE-ValueType
low complexity region 70 84 N/A INTRINSIC
low complexity region 195 217 N/A INTRINSIC
low complexity region 975 991 N/A INTRINSIC
low complexity region 1189 1204 N/A INTRINSIC
low complexity region 2051 2069 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223715
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224921
Predicted Effect unknown
Transcript: ENSMUST00000225303
AA Change: I597V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225677
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,360,959 (GRCm39) S445G probably benign Het
Abca5 C T 11: 110,208,640 (GRCm39) V226I probably benign Het
Ankrd34c A T 9: 89,611,239 (GRCm39) D367E probably benign Het
Bmp6 G T 13: 38,682,887 (GRCm39) probably benign Het
Cacna2d2 T C 9: 107,401,397 (GRCm39) probably null Het
Cblb T G 16: 52,024,905 (GRCm39) D933E probably damaging Het
Ccny A G 18: 9,353,489 (GRCm39) S95P probably benign Het
Cntn6 A T 6: 104,781,347 (GRCm39) T478S probably damaging Het
Cpne7 T C 8: 123,853,435 (GRCm39) F247L probably benign Het
Csf1r A G 18: 61,242,724 (GRCm39) E29G probably damaging Het
Dctn3 T A 4: 41,719,912 (GRCm39) I65F possibly damaging Het
Dock1 A G 7: 134,390,969 (GRCm39) E743G probably benign Het
Dus2 C A 8: 106,775,316 (GRCm39) T281N probably damaging Het
Gbx1 G T 5: 24,709,924 (GRCm39) T307K probably benign Het
Gtf2ird2 A T 5: 134,223,745 (GRCm39) N93I probably benign Het
Heatr1 A G 13: 12,449,292 (GRCm39) D1930G probably damaging Het
Hif3a T C 7: 16,782,564 (GRCm39) I334V probably benign Het
Ints1 G T 5: 139,752,261 (GRCm39) N756K probably benign Het
Kcnn2 T C 18: 45,693,635 (GRCm39) F404L probably damaging Het
Kmt2c G A 5: 25,489,170 (GRCm39) R4590W probably damaging Het
Limk1 A T 5: 134,699,355 (GRCm39) V134E probably damaging Het
Mep1a A G 17: 43,785,881 (GRCm39) V736A probably benign Het
Mex3a T A 3: 88,443,602 (GRCm39) I226N probably damaging Het
Mgl2 A T 11: 70,025,026 (GRCm39) K16* probably null Het
Mms22l G T 4: 24,581,161 (GRCm39) V864L probably damaging Het
Mroh4 T A 15: 74,487,963 (GRCm39) M320L probably benign Het
Mylk3 G A 8: 86,085,806 (GRCm39) P243S probably damaging Het
Nbea A C 3: 55,912,048 (GRCm39) D1246E possibly damaging Het
Ndnf A G 6: 65,680,299 (GRCm39) T193A possibly damaging Het
Nfasc T C 1: 132,549,247 (GRCm39) probably benign Het
Or6k8-ps1 A G 1: 173,979,126 (GRCm39) T15A probably benign Het
Ptprq A T 10: 107,378,518 (GRCm39) F2008I probably damaging Het
Rhag A G 17: 41,139,413 (GRCm39) K116R probably benign Het
Rictor T A 15: 6,798,721 (GRCm39) probably benign Het
Slc35f5 C A 1: 125,502,479 (GRCm39) T277N probably damaging Het
Sorcs2 A G 5: 36,222,675 (GRCm39) probably benign Het
Ssh2 T A 11: 77,312,032 (GRCm39) probably benign Het
Togaram2 T C 17: 72,024,365 (GRCm39) S830P probably benign Het
Trim30d T C 7: 104,122,476 (GRCm39) T112A probably benign Het
Ttc34 T C 4: 154,949,888 (GRCm39) V947A probably damaging Het
Ttn A G 2: 76,642,953 (GRCm39) probably benign Het
Ubr5 A T 15: 38,025,096 (GRCm39) V560D probably damaging Het
Ush2a A T 1: 188,282,053 (GRCm39) E1856V possibly damaging Het
Zfp142 T C 1: 74,612,777 (GRCm39) M457V probably benign Het
Zfp711 C T X: 111,534,555 (GRCm39) Q137* probably null Het
Zkscan17 T C 11: 59,377,986 (GRCm39) Y399C probably damaging Het
Zswim6 T G 13: 107,863,649 (GRCm39) noncoding transcript Het
Zswim6 T A 13: 107,863,650 (GRCm39) noncoding transcript Het
Other mutations in Cep192
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Cep192 APN 18 67,953,407 (GRCm39) missense probably damaging 1.00
IGL00163:Cep192 APN 18 68,013,871 (GRCm39) missense possibly damaging 0.61
IGL00509:Cep192 APN 18 67,991,939 (GRCm39) missense possibly damaging 0.78
IGL01012:Cep192 APN 18 67,945,477 (GRCm39) missense possibly damaging 0.95
IGL01143:Cep192 APN 18 67,937,445 (GRCm39) missense probably damaging 0.97
IGL01302:Cep192 APN 18 67,991,974 (GRCm39) missense probably benign 0.03
IGL01653:Cep192 APN 18 67,986,043 (GRCm39) missense possibly damaging 0.57
IGL02202:Cep192 APN 18 67,936,207 (GRCm39) missense possibly damaging 0.83
IGL02448:Cep192 APN 18 68,002,518 (GRCm39) missense probably benign 0.25
IGL02494:Cep192 APN 18 67,937,453 (GRCm39) missense probably benign 0.00
IGL02574:Cep192 APN 18 67,974,350 (GRCm39) missense probably damaging 0.99
IGL02624:Cep192 APN 18 68,013,866 (GRCm39) missense probably benign 0.20
IGL02646:Cep192 APN 18 67,995,548 (GRCm39) missense probably damaging 1.00
IGL02652:Cep192 APN 18 67,991,921 (GRCm39) splice site probably benign
IGL02684:Cep192 APN 18 67,967,634 (GRCm39) missense probably damaging 0.99
IGL02977:Cep192 APN 18 67,985,976 (GRCm39) missense probably damaging 0.97
IGL03133:Cep192 APN 18 67,943,176 (GRCm39) missense probably benign 0.00
IGL03139:Cep192 APN 18 67,961,547 (GRCm39) critical splice donor site probably null
IGL03213:Cep192 APN 18 67,998,708 (GRCm39) missense probably damaging 1.00
IGL03250:Cep192 APN 18 67,940,426 (GRCm39) missense probably benign 0.01
IGL03259:Cep192 APN 18 67,953,483 (GRCm39) missense probably damaging 1.00
R0117:Cep192 UTSW 18 67,983,808 (GRCm39) critical splice donor site probably null
R0180:Cep192 UTSW 18 67,968,559 (GRCm39) missense probably damaging 1.00
R0281:Cep192 UTSW 18 67,961,553 (GRCm39) splice site probably benign
R0374:Cep192 UTSW 18 67,951,954 (GRCm39) nonsense probably null
R0420:Cep192 UTSW 18 67,946,964 (GRCm39) missense possibly damaging 0.91
R0479:Cep192 UTSW 18 67,991,089 (GRCm39) missense probably damaging 1.00
R0652:Cep192 UTSW 18 67,940,336 (GRCm39) missense probably benign 0.04
R1024:Cep192 UTSW 18 67,971,125 (GRCm39) missense probably benign 0.37
R1382:Cep192 UTSW 18 67,989,370 (GRCm39) missense possibly damaging 0.74
R1394:Cep192 UTSW 18 67,991,992 (GRCm39) missense probably damaging 1.00
R1395:Cep192 UTSW 18 67,991,992 (GRCm39) missense probably damaging 1.00
R1641:Cep192 UTSW 18 67,980,504 (GRCm39) missense probably damaging 1.00
R1704:Cep192 UTSW 18 67,989,327 (GRCm39) missense probably damaging 1.00
R1793:Cep192 UTSW 18 67,984,838 (GRCm39) missense possibly damaging 0.74
R1835:Cep192 UTSW 18 67,937,494 (GRCm39) missense possibly damaging 0.95
R1978:Cep192 UTSW 18 67,936,228 (GRCm39) critical splice donor site probably null
R2164:Cep192 UTSW 18 67,953,431 (GRCm39) missense probably damaging 0.99
R2180:Cep192 UTSW 18 67,957,813 (GRCm39) missense possibly damaging 0.82
R2307:Cep192 UTSW 18 67,946,970 (GRCm39) missense probably benign 0.07
R2442:Cep192 UTSW 18 67,957,759 (GRCm39) missense possibly damaging 0.89
R2897:Cep192 UTSW 18 67,988,341 (GRCm39) splice site probably null
R2898:Cep192 UTSW 18 67,988,341 (GRCm39) splice site probably null
R2901:Cep192 UTSW 18 68,002,512 (GRCm39) missense possibly damaging 0.94
R3433:Cep192 UTSW 18 67,967,963 (GRCm39) missense probably benign 0.08
R3620:Cep192 UTSW 18 67,962,928 (GRCm39) missense probably benign 0.00
R3621:Cep192 UTSW 18 67,962,928 (GRCm39) missense probably benign 0.00
R3712:Cep192 UTSW 18 67,953,400 (GRCm39) missense probably benign 0.00
R4559:Cep192 UTSW 18 68,004,584 (GRCm39) missense probably damaging 1.00
R4590:Cep192 UTSW 18 67,949,862 (GRCm39) nonsense probably null
R4591:Cep192 UTSW 18 67,968,039 (GRCm39) missense probably damaging 0.99
R4604:Cep192 UTSW 18 67,948,993 (GRCm39) missense possibly damaging 0.64
R4627:Cep192 UTSW 18 67,945,440 (GRCm39) missense probably benign 0.03
R4725:Cep192 UTSW 18 67,949,837 (GRCm39) missense probably benign
R4738:Cep192 UTSW 18 68,017,901 (GRCm39) nonsense probably null
R4739:Cep192 UTSW 18 67,984,803 (GRCm39) missense probably benign 0.02
R4927:Cep192 UTSW 18 67,968,195 (GRCm39) missense probably benign 0.16
R4948:Cep192 UTSW 18 67,949,875 (GRCm39) missense probably benign 0.00
R5090:Cep192 UTSW 18 67,993,617 (GRCm39) missense possibly damaging 0.60
R5105:Cep192 UTSW 18 67,999,612 (GRCm39) missense probably benign 0.08
R5154:Cep192 UTSW 18 67,983,755 (GRCm39) missense probably damaging 1.00
R5192:Cep192 UTSW 18 67,968,075 (GRCm39) missense probably benign 0.03
R5735:Cep192 UTSW 18 68,013,866 (GRCm39) missense probably benign 0.20
R5812:Cep192 UTSW 18 67,984,808 (GRCm39) missense possibly damaging 0.49
R5869:Cep192 UTSW 18 67,948,935 (GRCm39) missense probably benign 0.01
R5981:Cep192 UTSW 18 67,993,661 (GRCm39) missense probably damaging 1.00
R6131:Cep192 UTSW 18 67,971,068 (GRCm39) missense possibly damaging 0.65
R6335:Cep192 UTSW 18 67,967,784 (GRCm39) missense probably damaging 1.00
R6849:Cep192 UTSW 18 67,945,506 (GRCm39) missense probably benign 0.00
R6861:Cep192 UTSW 18 67,974,699 (GRCm39) missense probably benign 0.43
R7192:Cep192 UTSW 18 67,983,599 (GRCm39) missense probably damaging 0.99
R7264:Cep192 UTSW 18 67,953,426 (GRCm39) missense probably damaging 1.00
R7397:Cep192 UTSW 18 67,989,268 (GRCm39) missense probably damaging 1.00
R7409:Cep192 UTSW 18 67,967,874 (GRCm39) missense possibly damaging 0.76
R7696:Cep192 UTSW 18 67,953,434 (GRCm39) missense probably damaging 1.00
R7756:Cep192 UTSW 18 67,989,384 (GRCm39) missense possibly damaging 0.92
R7758:Cep192 UTSW 18 67,989,384 (GRCm39) missense possibly damaging 0.92
R8247:Cep192 UTSW 18 67,974,188 (GRCm39) missense probably benign 0.02
R8695:Cep192 UTSW 18 67,951,958 (GRCm39) nonsense probably null
R8865:Cep192 UTSW 18 67,967,703 (GRCm39) missense probably benign 0.01
R8935:Cep192 UTSW 18 67,995,543 (GRCm39) missense probably damaging 1.00
R9453:Cep192 UTSW 18 67,989,354 (GRCm39) nonsense probably null
R9571:Cep192 UTSW 18 67,952,109 (GRCm39) missense probably damaging 0.98
R9581:Cep192 UTSW 18 67,980,465 (GRCm39) missense probably damaging 1.00
R9599:Cep192 UTSW 18 67,968,525 (GRCm39) missense probably benign 0.19
R9779:Cep192 UTSW 18 67,968,348 (GRCm39) missense probably damaging 1.00
RF003:Cep192 UTSW 18 67,971,027 (GRCm39) missense probably benign 0.44
X0066:Cep192 UTSW 18 67,945,520 (GRCm39) splice site probably null
Z1176:Cep192 UTSW 18 68,014,359 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02