Incidental Mutation 'IGL00435:Cep170b'
ID 332419
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep170b
Ensembl Gene ENSMUSG00000072825
Gene Name centrosomal protein 170B
Synonyms AW555464
Accession Numbers
Essential gene? Possibly essential (E-score: 0.538) question?
Stock # IGL00435
Quality Score
Status
Chromosome 12
Chromosomal Location 112687950-112713026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112701628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 169 (Q169R)
Ref Sequence ENSEMBL: ENSMUSP00000152451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092279] [ENSMUST00000101018] [ENSMUST00000179041] [ENSMUST00000220627] [ENSMUST00000222711]
AlphaFold Q80U49
Predicted Effect probably damaging
Transcript: ENSMUST00000092279
AA Change: Q169R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089930
Gene: ENSMUSG00000072825
AA Change: Q169R

DomainStartEndE-ValueType
FHA 22 73 4.65e-10 SMART
Pfam:CEP170_C 204 598 8.9e-174 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101018
AA Change: Q169R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098580
Gene: ENSMUSG00000072825
AA Change: Q169R

DomainStartEndE-ValueType
FHA 22 73 4.65e-10 SMART
low complexity region 370 382 N/A INTRINSIC
low complexity region 535 548 N/A INTRINSIC
low complexity region 676 690 N/A INTRINSIC
low complexity region 739 757 N/A INTRINSIC
Pfam:CEP170_C 831 1514 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179041
AA Change: Q169R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137331
Gene: ENSMUSG00000072825
AA Change: Q169R

DomainStartEndE-ValueType
FHA 22 73 4.65e-10 SMART
low complexity region 370 382 N/A INTRINSIC
low complexity region 535 548 N/A INTRINSIC
low complexity region 676 690 N/A INTRINSIC
low complexity region 739 757 N/A INTRINSIC
Pfam:CEP170_C 832 1510 4.3e-303 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183447
Predicted Effect probably damaging
Transcript: ENSMUST00000220627
AA Change: Q169R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221570
Predicted Effect probably damaging
Transcript: ENSMUST00000222711
AA Change: Q169R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223104
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 68,152,796 (GRCm39) D657E probably damaging Het
Cd200l1 A T 16: 45,264,483 (GRCm39) L25Q probably damaging Het
Cd68 T C 11: 69,556,676 (GRCm39) T44A probably damaging Het
Cecr2 C T 6: 120,733,678 (GRCm39) T555M probably damaging Het
Cs T C 10: 128,195,912 (GRCm39) F374L probably damaging Het
Dpy19l1 T C 9: 24,393,226 (GRCm39) E181G probably damaging Het
Efcab12 T C 6: 115,800,625 (GRCm39) T133A probably benign Het
Esr2 G A 12: 76,180,653 (GRCm39) R423W probably damaging Het
Eya4 T C 10: 23,034,995 (GRCm39) Y120C probably benign Het
Fbxw8 A G 5: 118,206,202 (GRCm39) M582T probably benign Het
Fcgbpl1 A T 7: 27,863,953 (GRCm39) D2575V probably damaging Het
Ghsr A G 3: 27,426,532 (GRCm39) E196G possibly damaging Het
Gm10024 G A 10: 77,547,295 (GRCm39) probably benign Het
Gpr65 A G 12: 98,241,815 (GRCm39) E156G probably damaging Het
Gtf3c3 T C 1: 54,466,694 (GRCm39) Y249C possibly damaging Het
H2-T23 G A 17: 36,342,673 (GRCm39) A155V probably damaging Het
Hadha A G 5: 30,327,171 (GRCm39) S556P probably benign Het
Hdac7 T A 15: 97,707,376 (GRCm39) K187N probably damaging Het
Inpp5j T C 11: 3,452,255 (GRCm39) I332V probably benign Het
Kank1 A G 19: 25,407,600 (GRCm39) D1198G probably benign Het
Kdr A G 5: 76,129,410 (GRCm39) L159P probably damaging Het
Me2 T C 18: 73,903,713 (GRCm39) E585G probably benign Het
Nfu1 A T 6: 86,992,577 (GRCm39) T64S probably damaging Het
Nsd3 A G 8: 26,166,728 (GRCm39) D632G probably benign Het
Pcna T C 2: 132,093,852 (GRCm39) D97G probably benign Het
Pgm2 A G 5: 64,265,612 (GRCm39) probably benign Het
Phactr1 C A 13: 43,110,122 (GRCm39) R2S probably damaging Het
Psmd11 T A 11: 80,361,210 (GRCm39) I347N possibly damaging Het
Rad21l T C 2: 151,495,436 (GRCm39) T416A probably benign Het
Ruvbl2 A T 7: 45,074,596 (GRCm39) S181T probably benign Het
Rxrb A G 17: 34,253,049 (GRCm39) T109A probably damaging Het
Ryr3 T A 2: 112,490,494 (GRCm39) Y3785F probably damaging Het
Sec16a T C 2: 26,320,113 (GRCm39) T1442A probably benign Het
Slc6a14 T A X: 21,600,363 (GRCm39) probably benign Het
Slco2b1 G A 7: 99,309,259 (GRCm39) Q691* probably null Het
Tent5c A G 3: 100,380,672 (GRCm39) V28A probably damaging Het
Them5 A G 3: 94,253,496 (GRCm39) T169A possibly damaging Het
Trav13-2 T C 14: 53,872,688 (GRCm39) F55L possibly damaging Het
Tst A T 15: 78,289,661 (GRCm39) S125T probably damaging Het
Ttn T C 2: 76,630,868 (GRCm39) T14179A probably benign Het
Vps37b A G 5: 124,148,850 (GRCm39) Y62H probably damaging Het
Other mutations in Cep170b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Cep170b APN 12 112,702,086 (GRCm39) missense probably damaging 1.00
IGL01317:Cep170b APN 12 112,704,078 (GRCm39) missense probably damaging 1.00
IGL01660:Cep170b APN 12 112,710,594 (GRCm39) missense probably damaging 1.00
IGL02032:Cep170b APN 12 112,703,767 (GRCm39) critical splice donor site probably null
IGL02505:Cep170b APN 12 112,709,504 (GRCm39) missense probably damaging 1.00
IGL02966:Cep170b APN 12 112,702,878 (GRCm39) missense possibly damaging 0.75
IGL03111:Cep170b APN 12 112,701,613 (GRCm39) missense probably damaging 1.00
IGL03367:Cep170b APN 12 112,703,672 (GRCm39) missense probably benign 0.00
R0348:Cep170b UTSW 12 112,703,240 (GRCm39) missense probably damaging 1.00
R0562:Cep170b UTSW 12 112,705,623 (GRCm39) missense probably benign 0.00
R0909:Cep170b UTSW 12 112,698,473 (GRCm39) missense probably null 0.06
R1217:Cep170b UTSW 12 112,707,339 (GRCm39) missense probably damaging 0.99
R1300:Cep170b UTSW 12 112,703,691 (GRCm39) missense probably benign 0.02
R1647:Cep170b UTSW 12 112,702,806 (GRCm39) missense probably damaging 1.00
R1648:Cep170b UTSW 12 112,702,806 (GRCm39) missense probably damaging 1.00
R1652:Cep170b UTSW 12 112,699,947 (GRCm39) missense probably damaging 0.99
R1737:Cep170b UTSW 12 112,703,061 (GRCm39) missense possibly damaging 0.71
R1936:Cep170b UTSW 12 112,702,172 (GRCm39) missense probably damaging 1.00
R1962:Cep170b UTSW 12 112,704,495 (GRCm39) missense probably damaging 1.00
R2094:Cep170b UTSW 12 112,702,164 (GRCm39) missense possibly damaging 0.90
R2208:Cep170b UTSW 12 112,705,419 (GRCm39) missense probably benign 0.00
R3418:Cep170b UTSW 12 112,704,902 (GRCm39) nonsense probably null
R3735:Cep170b UTSW 12 112,707,438 (GRCm39) missense probably damaging 1.00
R3736:Cep170b UTSW 12 112,707,438 (GRCm39) missense probably damaging 1.00
R4299:Cep170b UTSW 12 112,705,739 (GRCm39) missense probably damaging 1.00
R4577:Cep170b UTSW 12 112,711,152 (GRCm39) missense probably damaging 1.00
R5199:Cep170b UTSW 12 112,710,581 (GRCm39) missense probably damaging 1.00
R5512:Cep170b UTSW 12 112,699,919 (GRCm39) missense possibly damaging 0.86
R5575:Cep170b UTSW 12 112,702,066 (GRCm39) missense probably damaging 1.00
R5643:Cep170b UTSW 12 112,707,275 (GRCm39) missense probably benign 0.35
R6074:Cep170b UTSW 12 112,710,589 (GRCm39) missense probably damaging 1.00
R6265:Cep170b UTSW 12 112,710,993 (GRCm39) missense probably damaging 1.00
R6371:Cep170b UTSW 12 112,707,379 (GRCm39) missense probably damaging 1.00
R6376:Cep170b UTSW 12 112,698,502 (GRCm39) missense probably damaging 0.99
R7055:Cep170b UTSW 12 112,702,149 (GRCm39) missense probably damaging 1.00
R7137:Cep170b UTSW 12 112,701,601 (GRCm39) missense probably benign
R7226:Cep170b UTSW 12 112,704,359 (GRCm39) missense possibly damaging 0.80
R7615:Cep170b UTSW 12 112,711,099 (GRCm39) missense probably damaging 1.00
R7831:Cep170b UTSW 12 112,711,234 (GRCm39) missense probably benign 0.08
R8178:Cep170b UTSW 12 112,705,719 (GRCm39) missense possibly damaging 0.92
R8492:Cep170b UTSW 12 112,711,134 (GRCm39) missense probably damaging 1.00
R8838:Cep170b UTSW 12 112,710,159 (GRCm39) missense probably damaging 1.00
R8859:Cep170b UTSW 12 112,702,881 (GRCm39) missense probably benign
R9573:Cep170b UTSW 12 112,691,154 (GRCm39) missense probably damaging 1.00
R9643:Cep170b UTSW 12 112,704,045 (GRCm39) missense probably damaging 1.00
R9694:Cep170b UTSW 12 112,701,993 (GRCm39) missense probably damaging 1.00
R9778:Cep170b UTSW 12 112,697,864 (GRCm39) missense possibly damaging 0.93
R9783:Cep170b UTSW 12 112,711,118 (GRCm39) missense probably damaging 1.00
Z1176:Cep170b UTSW 12 112,707,446 (GRCm39) critical splice donor site probably null
Posted On 2015-08-05