Incidental Mutation 'IGL01143:Cep192'
ID53204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep192
Ensembl Gene ENSMUSG00000024542
Gene Namecentrosomal protein 192
Synonyms4631422C13Rik, D430014P18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01143
Quality Score
Status
Chromosome18
Chromosomal Location67800107-67885170 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 67804375 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 58 (D58E)
Ref Sequence ENSEMBL: ENSMUSP00000025425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025425]
Predicted Effect probably damaging
Transcript: ENSMUST00000025425
AA Change: D58E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: D58E

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: ENSMUST00000224387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225077
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A G 3: 151,500,229 probably null Het
Adgrv1 A C 13: 81,419,351 D5234E probably benign Het
Bmp7 G T 2: 172,879,482 H267N probably benign Het
Btbd11 A T 10: 85,654,471 probably benign Het
Ccdc113 T C 8: 95,534,260 V30A probably damaging Het
Ccdc185 A T 1: 182,747,852 L424Q probably damaging Het
Ces1f C T 8: 93,271,830 probably null Het
Chaf1a T A 17: 56,063,336 D600E possibly damaging Het
Cndp2 A G 18: 84,677,317 probably null Het
Dnah11 T A 12: 118,012,740 D2727V probably damaging Het
Dync1li2 T C 8: 104,429,453 D252G probably damaging Het
Ephx2 C T 14: 66,089,522 R408Q probably damaging Het
Fat1 C A 8: 45,035,532 T3427K possibly damaging Het
Gal3st4 A G 5: 138,271,402 M1T probably null Het
Gm5828 T C 1: 16,769,948 noncoding transcript Het
Gm7694 C T 1: 170,302,825 M1I probably null Het
Gpatch1 A G 7: 35,301,572 probably benign Het
Grik1 G T 16: 87,957,600 probably null Het
Gtf2ird2 A G 5: 134,196,553 T161A possibly damaging Het
Hk2 T C 6: 82,729,552 I790V possibly damaging Het
Ints9 G A 14: 65,037,421 V609I probably benign Het
Kcnq4 T G 4: 120,698,623 D585A probably damaging Het
Large2 T C 2: 92,366,339 Y464C probably damaging Het
Lpar6 G A 14: 73,238,637 D13N probably damaging Het
Morn1 T C 4: 155,092,304 Y132H probably damaging Het
Nphp1 C T 2: 127,780,136 V24I probably benign Het
Olfr1141 T C 2: 87,753,934 N20D probably benign Het
Olfr1457 A T 19: 13,095,112 F179I probably damaging Het
Olfr905 G T 9: 38,473,042 M98I possibly damaging Het
Pcdhb13 T C 18: 37,442,637 W23R probably benign Het
Plekhg3 T C 12: 76,564,982 probably null Het
Slx4 T C 16: 3,990,888 K396R probably benign Het
Snx13 A G 12: 35,132,160 D736G probably damaging Het
Spag17 A G 3: 99,939,298 D46G probably benign Het
Spata31 T G 13: 64,920,816 Y259* probably null Het
Synj1 T C 16: 90,951,976 E1064G probably damaging Het
Tom1 A G 8: 75,058,457 T81A probably benign Het
Ttc23l A G 15: 10,530,689 I279T probably damaging Het
Ttc39a T C 4: 109,442,813 probably null Het
Vmn2r108 C A 17: 20,462,465 A826S possibly damaging Het
Zyg11b A T 4: 108,244,994 V510E possibly damaging Het
Other mutations in Cep192
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Cep192 APN 18 67820336 missense probably damaging 1.00
IGL00163:Cep192 APN 18 67880800 missense possibly damaging 0.61
IGL00509:Cep192 APN 18 67858868 missense possibly damaging 0.78
IGL01012:Cep192 APN 18 67812406 missense possibly damaging 0.95
IGL01302:Cep192 APN 18 67858903 missense probably benign 0.03
IGL01653:Cep192 APN 18 67852972 missense possibly damaging 0.57
IGL02202:Cep192 APN 18 67803137 missense possibly damaging 0.83
IGL02448:Cep192 APN 18 67869447 missense probably benign 0.25
IGL02494:Cep192 APN 18 67804383 missense probably benign 0.00
IGL02574:Cep192 APN 18 67841279 missense probably damaging 0.99
IGL02624:Cep192 APN 18 67880795 missense probably benign 0.20
IGL02646:Cep192 APN 18 67862477 missense probably damaging 1.00
IGL02652:Cep192 APN 18 67858850 splice site probably benign
IGL02684:Cep192 APN 18 67834563 missense probably damaging 0.99
IGL02977:Cep192 APN 18 67852905 missense probably damaging 0.97
IGL03000:Cep192 APN 18 67852044 missense probably damaging 1.00
IGL03133:Cep192 APN 18 67810105 missense probably benign 0.00
IGL03139:Cep192 APN 18 67828476 critical splice donor site probably null
IGL03213:Cep192 APN 18 67865637 missense probably damaging 1.00
IGL03250:Cep192 APN 18 67807355 missense probably benign 0.01
IGL03259:Cep192 APN 18 67820412 missense probably damaging 1.00
R0117:Cep192 UTSW 18 67850737 critical splice donor site probably null
R0180:Cep192 UTSW 18 67835488 missense probably damaging 1.00
R0281:Cep192 UTSW 18 67828482 splice site probably benign
R0374:Cep192 UTSW 18 67818883 nonsense probably null
R0420:Cep192 UTSW 18 67813893 missense possibly damaging 0.91
R0479:Cep192 UTSW 18 67858018 missense probably damaging 1.00
R0652:Cep192 UTSW 18 67807265 missense probably benign 0.04
R1024:Cep192 UTSW 18 67838054 missense probably benign 0.37
R1382:Cep192 UTSW 18 67856299 missense possibly damaging 0.74
R1394:Cep192 UTSW 18 67858921 missense probably damaging 1.00
R1395:Cep192 UTSW 18 67858921 missense probably damaging 1.00
R1641:Cep192 UTSW 18 67847433 missense probably damaging 1.00
R1704:Cep192 UTSW 18 67856256 missense probably damaging 1.00
R1793:Cep192 UTSW 18 67851767 missense possibly damaging 0.74
R1835:Cep192 UTSW 18 67804424 missense possibly damaging 0.95
R1978:Cep192 UTSW 18 67803158 critical splice donor site probably null
R2164:Cep192 UTSW 18 67820360 missense probably damaging 0.99
R2180:Cep192 UTSW 18 67824742 missense possibly damaging 0.82
R2307:Cep192 UTSW 18 67813899 missense probably benign 0.07
R2442:Cep192 UTSW 18 67824688 missense possibly damaging 0.89
R2897:Cep192 UTSW 18 67855270 splice site probably null
R2898:Cep192 UTSW 18 67855270 splice site probably null
R2901:Cep192 UTSW 18 67869441 missense possibly damaging 0.94
R3433:Cep192 UTSW 18 67834892 missense probably benign 0.08
R3620:Cep192 UTSW 18 67829857 missense probably benign 0.00
R3621:Cep192 UTSW 18 67829857 missense probably benign 0.00
R3712:Cep192 UTSW 18 67820329 missense probably benign 0.00
R4559:Cep192 UTSW 18 67871513 missense probably damaging 1.00
R4590:Cep192 UTSW 18 67816791 nonsense probably null
R4591:Cep192 UTSW 18 67834968 missense probably damaging 0.99
R4604:Cep192 UTSW 18 67815922 missense possibly damaging 0.64
R4627:Cep192 UTSW 18 67812369 missense probably benign 0.03
R4725:Cep192 UTSW 18 67816766 missense probably benign
R4738:Cep192 UTSW 18 67884830 nonsense probably null
R4739:Cep192 UTSW 18 67851732 missense probably benign 0.02
R4927:Cep192 UTSW 18 67835124 missense probably benign 0.16
R4948:Cep192 UTSW 18 67816804 missense probably benign 0.00
R5090:Cep192 UTSW 18 67860546 missense possibly damaging 0.60
R5105:Cep192 UTSW 18 67866541 missense probably benign 0.08
R5154:Cep192 UTSW 18 67850684 missense probably damaging 1.00
R5192:Cep192 UTSW 18 67835004 missense probably benign 0.03
R5735:Cep192 UTSW 18 67880795 missense probably benign 0.20
R5812:Cep192 UTSW 18 67851737 missense possibly damaging 0.49
R5869:Cep192 UTSW 18 67815864 missense probably benign 0.01
R5981:Cep192 UTSW 18 67860590 missense probably damaging 1.00
R6131:Cep192 UTSW 18 67837997 missense possibly damaging 0.65
R6335:Cep192 UTSW 18 67834713 missense probably damaging 1.00
R6849:Cep192 UTSW 18 67812435 missense probably benign 0.00
R6861:Cep192 UTSW 18 67841628 missense probably benign 0.43
R7192:Cep192 UTSW 18 67850528 missense probably damaging 0.99
R7264:Cep192 UTSW 18 67820355 missense probably damaging 1.00
R7397:Cep192 UTSW 18 67856197 missense probably damaging 1.00
R7409:Cep192 UTSW 18 67834803 missense possibly damaging 0.76
R7696:Cep192 UTSW 18 67820363 missense probably damaging 1.00
R7756:Cep192 UTSW 18 67856313 missense possibly damaging 0.92
R7758:Cep192 UTSW 18 67856313 missense possibly damaging 0.92
R8247:Cep192 UTSW 18 67841117 missense probably benign 0.02
R8695:Cep192 UTSW 18 67818887 nonsense probably null
R8865:Cep192 UTSW 18 67834632 missense probably benign 0.01
R8935:Cep192 UTSW 18 67862472 missense probably damaging 1.00
RF003:Cep192 UTSW 18 67837956 missense probably benign 0.44
X0066:Cep192 UTSW 18 67812449 splice site probably null
Z1176:Cep192 UTSW 18 67881288 missense probably damaging 1.00
Posted On2013-06-21