Incidental Mutation 'IGL02977:Cep192'
ID 406434
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 # IGL02977
Quality Score
Status
Chromosome 18
Chromosomal Location 67933177-68018241 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67985976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1660 (V1660A)
Ref Sequence ENSEMBL: ENSMUSP00000025425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025425]
AlphaFold E9Q4Y4
Predicted Effect probably damaging
Transcript: ENSMUST00000025425
AA Change: V1660A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: V1660A

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: ENSMUST00000224817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224921
Predicted Effect unknown
Transcript: ENSMUST00000225303
AA Change: V599A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225677
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik C T 8: 125,587,930 (GRCm39) V57M probably benign Het
4933440M02Rik T A 7: 124,930,874 (GRCm39) noncoding transcript Het
Bmp5 A G 9: 75,801,081 (GRCm39) T404A probably damaging Het
Csmd2 C A 4: 128,387,069 (GRCm39) Y2121* probably null Het
Daam1 G A 12: 71,990,946 (GRCm39) A187T unknown Het
Dnaja4 T C 9: 54,621,794 (GRCm39) L343P possibly damaging Het
Dym T C 18: 75,196,246 (GRCm39) probably null Het
F5 A T 1: 164,021,590 (GRCm39) D1355V probably damaging Het
Fcgbpl1 C T 7: 27,863,797 (GRCm39) T2523M possibly damaging Het
Gcnt1 A T 19: 17,306,738 (GRCm39) I329N probably damaging Het
Gm10110 T C 14: 90,134,768 (GRCm39) noncoding transcript Het
Hdgfl2 A G 17: 56,406,319 (GRCm39) N569S possibly damaging Het
Hivep1 T C 13: 42,309,412 (GRCm39) S551P possibly damaging Het
Hpse2 G A 19: 42,777,561 (GRCm39) probably benign Het
Hspe1 T C 1: 55,130,232 (GRCm39) Y88H probably benign Het
Ifi44 A T 3: 151,445,016 (GRCm39) M312K probably benign Het
Lrp1b T G 2: 40,620,747 (GRCm39) D3577A probably damaging Het
Mapk13 G T 17: 28,995,322 (GRCm39) G181V probably damaging Het
Oprl1 G T 2: 181,360,304 (GRCm39) C115F probably damaging Het
Or4d1 A G 11: 87,804,956 (GRCm39) S259P possibly damaging Het
Or5d37 T C 2: 87,923,915 (GRCm39) I122V probably benign Het
Psg22 A G 7: 18,453,524 (GRCm39) D112G probably benign Het
Rp1l1 T A 14: 64,265,599 (GRCm39) I395N probably benign Het
Simc1 T C 13: 54,674,120 (GRCm39) S823P probably benign Het
Slc9b1 T C 3: 135,103,484 (GRCm39) L538P probably damaging Het
Smad2 T A 18: 76,422,235 (GRCm39) Y216N possibly damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tonsl T A 15: 76,517,073 (GRCm39) Q882L probably benign Het
Trav13-2 C T 14: 53,872,764 (GRCm39) T80I probably damaging Het
Uaca C T 9: 60,773,662 (GRCm39) P388S probably benign Het
Vmn2r116 A G 17: 23,607,748 (GRCm39) R439G possibly damaging Het
Vmn2r18 C A 5: 151,510,149 (GRCm39) A75S probably damaging 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
IGL03000:Cep192 APN 18 67,985,115 (GRCm39) missense probably damaging 1.00
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