Incidental Mutation 'IGL02505:Cep170b'
ID 296302
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 # IGL02505
Quality Score
Status
Chromosome 12
Chromosomal Location 112687950-112713026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 112709504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 436 (N436K)
Ref Sequence ENSEMBL: ENSMUSP00000089930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092279] [ENSMUST00000101018] [ENSMUST00000179041] [ENSMUST00000220627] [ENSMUST00000222711]
AlphaFold Q80U49
Predicted Effect probably damaging
Transcript: ENSMUST00000092279
AA Change: N436K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000089930
Gene: ENSMUSG00000072825
AA Change: N436K

DomainStartEndE-ValueType
FHA 22 73 4.65e-10 SMART
Pfam:CEP170_C 204 598 8.9e-174 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000101018
AA Change: N1352K

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098580
Gene: ENSMUSG00000072825
AA Change: N1352K

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 possibly damaging
Transcript: ENSMUST00000179041
AA Change: N1352K

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137331
Gene: ENSMUSG00000072825
AA Change: N1352K

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 probably damaging
Transcript: ENSMUST00000220627
AA Change: N1317K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222532
Predicted Effect possibly damaging
Transcript: ENSMUST00000222711
AA Change: N1352K

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222612
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab C A 9: 63,524,096 (GRCm39) L68M probably damaging Het
Abca13 T G 11: 9,531,498 (GRCm39) L4575W probably damaging Het
Abcb11 A T 2: 69,076,105 (GRCm39) V1201D probably damaging Het
Aldoa G T 7: 126,395,166 (GRCm39) A252E probably damaging Het
Ap1b1 C T 11: 4,981,700 (GRCm39) A536V probably benign Het
Arhgef3 A G 14: 27,115,957 (GRCm39) H233R possibly damaging Het
Arhgef40 A T 14: 52,238,320 (GRCm39) E1266D probably damaging Het
Atp1a4 C T 1: 172,062,642 (GRCm39) V622M probably damaging Het
Aup1 A G 6: 83,032,258 (GRCm39) T142A probably benign Het
Bcl6 A T 16: 23,796,319 (GRCm39) I36N probably damaging Het
Best1 A G 19: 9,966,514 (GRCm39) S358P probably damaging Het
Cadps T G 14: 12,449,759 (GRCm38) Q1150P probably damaging Het
Capn5 T A 7: 97,780,403 (GRCm39) E322D possibly damaging Het
Cd300ld2 A T 11: 114,904,513 (GRCm39) M118K probably benign Het
Cdh9 T C 15: 16,856,075 (GRCm39) L705P probably damaging Het
Chil6 T A 3: 106,313,278 (GRCm39) I24F probably benign Het
Chmp2a T A 7: 12,767,782 (GRCm39) K48* probably null Het
Col19a1 C T 1: 24,339,665 (GRCm39) probably benign Het
Cops7b C A 1: 86,520,043 (GRCm39) Q65K probably benign Het
Cyp2e1 T A 7: 140,349,069 (GRCm39) L133H probably damaging Het
Dkc1 T C X: 74,152,339 (GRCm39) probably benign Het
Erlec1 A G 11: 30,900,767 (GRCm39) Y134H probably damaging Het
F8 C A X: 74,423,204 (GRCm39) probably benign Het
Fus G A 7: 127,580,679 (GRCm39) R252Q possibly damaging Het
Fzd3 A T 14: 65,490,555 (GRCm39) D9E probably benign Het
Gm15821 T C 17: 34,433,259 (GRCm39) probably benign Het
Gm5117 C A 8: 32,228,344 (GRCm39) noncoding transcript Het
H2-Q6 A G 17: 35,644,152 (GRCm39) I45V probably benign Het
Hectd1 A G 12: 51,847,496 (GRCm39) probably null Het
Ifi204 T C 1: 173,583,220 (GRCm39) K333E probably benign Het
Ildr1 G A 16: 36,536,526 (GRCm39) G185D probably damaging Het
Itgb2 G A 10: 77,383,052 (GRCm39) D141N probably damaging Het
Kdm1b G T 13: 47,214,331 (GRCm39) D226Y probably damaging Het
Krt77 A G 15: 101,769,381 (GRCm39) L460P probably damaging Het
Lamp3 A G 16: 19,474,207 (GRCm39) I389T possibly damaging Het
Macroh2a1 A G 13: 56,222,143 (GRCm39) V336A probably damaging Het
Mars1 C A 10: 127,140,113 (GRCm39) E414* probably null Het
Mpg T C 11: 32,180,042 (GRCm39) V190A probably damaging Het
Myh15 A G 16: 48,937,626 (GRCm39) I742M possibly damaging Het
Nell2 A T 15: 95,194,144 (GRCm39) probably benign Het
Nmur1 T C 1: 86,314,057 (GRCm39) D370G probably benign Het
Npsr1 A G 9: 24,009,578 (GRCm39) E28G probably benign Het
Or52r1 T C 7: 102,536,814 (GRCm39) E182G probably damaging Het
Or56a3 A T 7: 104,735,540 (GRCm39) I206L probably benign Het
Or7a42 G T 10: 78,791,767 (GRCm39) V243F probably benign Het
Or8b12c G A 9: 37,715,627 (GRCm39) C140Y probably benign Het
Pdzrn3 T C 6: 101,128,899 (GRCm39) N589S possibly damaging Het
Pkd1l3 T C 8: 110,359,848 (GRCm39) L901P probably damaging Het
Plekhg1 G T 10: 3,907,139 (GRCm39) K685N probably damaging Het
Prim1 T A 10: 127,865,652 (GRCm39) *419R probably null Het
Ptk2b G T 14: 66,391,692 (GRCm39) N905K probably damaging Het
Rbm34 T C 8: 127,676,071 (GRCm39) I395V probably benign Het
Rfx1 A G 8: 84,822,438 (GRCm39) E912G possibly damaging Het
Rngtt T C 4: 33,337,936 (GRCm39) V253A possibly damaging Het
Slc2a9 A G 5: 38,594,002 (GRCm39) Y169H possibly damaging Het
Slc49a4 G T 16: 35,555,928 (GRCm39) D177E probably benign Het
Susd4 C A 1: 182,719,645 (GRCm39) T420K probably benign Het
Tdrd3 G A 14: 87,749,118 (GRCm39) G676D probably damaging Het
Tec T C 5: 72,946,587 (GRCm39) K47E probably damaging Het
Tenm2 C A 11: 35,942,743 (GRCm39) G1308* probably null Het
Tmprss15 A T 16: 78,784,629 (GRCm39) D675E probably benign Het
Vmn1r84 A G 7: 12,096,346 (GRCm39) C104R probably damaging Het
Vmn2r49 T A 7: 9,710,378 (GRCm39) M785L probably benign Het
Vmn2r85 G T 10: 130,261,449 (GRCm39) T296K probably damaging Het
Wdr3 C T 3: 100,059,290 (GRCm39) S343N probably benign Het
Yju2 G T 17: 56,269,051 (GRCm39) G53V probably damaging Het
Zfp143 A T 7: 109,690,993 (GRCm39) M515L possibly damaging Het
Zfp735 A G 11: 73,580,626 (GRCm39) I42V probably benign Het
Zswim5 A T 4: 116,819,749 (GRCm39) M385L probably benign Het
Other mutations in Cep170b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Cep170b APN 12 112,701,628 (GRCm39) missense probably damaging 1.00
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
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 2015-04-16