Incidental Mutation 'R2208:Cep170b'
ID 236792
Institutional Source Beutler Lab
Gene Symbol Cep170b
Ensembl Gene ENSMUSG00000072825
Gene Name centrosomal protein 170B
Synonyms AW555464
MMRRC Submission 040210-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.538) question?
Stock # R2208 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 112687950-112713026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 112705419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1059 (L1059Q)
Ref Sequence ENSEMBL: ENSMUSP00000152451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092279] [ENSMUST00000101018] [ENSMUST00000179041] [ENSMUST00000220627] [ENSMUST00000222711]
AlphaFold Q80U49
Predicted Effect probably benign
Transcript: ENSMUST00000092279
SMART Domains Protein: ENSMUSP00000089930
Gene: ENSMUSG00000072825

DomainStartEndE-ValueType
FHA 22 73 4.65e-10 SMART
Pfam:CEP170_C 204 598 8.9e-174 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101018
AA Change: L1059Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000098580
Gene: ENSMUSG00000072825
AA Change: L1059Q

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 benign
Transcript: ENSMUST00000179041
AA Change: L1059Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000137331
Gene: ENSMUSG00000072825
AA Change: L1059Q

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 benign
Transcript: ENSMUST00000220627
AA Change: L1059Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221853
Predicted Effect probably benign
Transcript: ENSMUST00000222711
AA Change: L1059Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222612
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,995,096 (GRCm39) V5460A probably benign Het
Bco2 A G 9: 50,444,755 (GRCm39) V517A probably damaging Het
Brca2 T A 5: 150,455,809 (GRCm39) D183E probably damaging Het
Ccdc142 T C 6: 83,084,941 (GRCm39) probably null Het
Ccdc39 A G 3: 33,895,327 (GRCm39) L34P probably damaging Het
Cdc42bpb T A 12: 111,302,463 (GRCm39) H198L probably damaging Het
Cdc73 T A 1: 143,485,120 (GRCm39) E516V probably damaging Het
Chrm1 T C 19: 8,655,463 (GRCm39) L56P probably damaging Het
Clec4d T A 6: 123,242,314 (GRCm39) V22D probably damaging Het
Cplane1 T A 15: 8,223,887 (GRCm39) N883K probably benign Het
Cyp2c39 T C 19: 39,549,405 (GRCm39) Y308H possibly damaging Het
Cyp2d12 T C 15: 82,441,137 (GRCm39) L141P probably damaging Het
Cyp4x1 G T 4: 114,983,791 (GRCm39) Q85K probably benign Het
Dpysl5 G A 5: 30,948,941 (GRCm39) D399N probably damaging Het
Enpp7 T C 11: 118,879,588 (GRCm39) probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fitm2 T A 2: 163,314,604 (GRCm39) probably benign Het
Gng10 T A 4: 59,035,314 (GRCm39) I26N possibly damaging Het
Gpr33 C T 12: 52,070,236 (GRCm39) V268I probably benign Het
Hmcn2 G A 2: 31,270,309 (GRCm39) C1182Y probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Krt36 C T 11: 99,993,765 (GRCm39) V358M probably damaging Het
Lmod3 T C 6: 97,224,838 (GRCm39) I328V probably benign Het
Lrp8 T C 4: 107,712,987 (GRCm39) V580A probably damaging Het
Masp2 T C 4: 148,698,872 (GRCm39) I651T probably damaging Het
Mnd1 C A 3: 84,041,416 (GRCm39) C62F probably benign Het
Msi2 A T 11: 88,480,934 (GRCm39) S118T probably damaging Het
Muc19 T C 15: 91,755,747 (GRCm39) noncoding transcript Het
Nabp1 G A 1: 51,516,773 (GRCm39) R32* probably null Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Nup88 T C 11: 70,856,545 (GRCm39) D196G probably damaging Het
Or11h4b T C 14: 50,919,020 (GRCm39) I24V probably benign Het
Pax1 T A 2: 147,207,722 (GRCm39) I198N probably damaging Het
Pde3a A G 6: 141,196,073 (GRCm39) E253G probably damaging Het
Phldb1 C T 9: 44,607,428 (GRCm39) R1192Q probably damaging Het
Pianp C A 6: 124,976,602 (GRCm39) P137Q probably damaging Het
Prdm15 A C 16: 97,600,464 (GRCm39) probably null Het
Ptprf A T 4: 118,126,369 (GRCm39) probably benign Het
Rfx7 A G 9: 72,525,246 (GRCm39) D812G probably benign Het
Rgs22 T C 15: 36,050,378 (GRCm39) T691A probably benign Het
Rundc3a A T 11: 102,292,914 (GRCm39) S436C probably damaging Het
Sntb1 T C 15: 55,769,714 (GRCm39) T92A possibly damaging Het
Tars3 T C 7: 65,332,596 (GRCm39) S566P probably damaging Het
Tbc1d32 A T 10: 56,026,888 (GRCm39) probably null Het
Tep1 T C 14: 51,104,321 (GRCm39) Q191R probably benign Het
Tmc2 C A 2: 130,056,483 (GRCm39) probably null Het
Tns1 A C 1: 74,118,399 (GRCm39) I77S probably damaging Het
Trpd52l3 T C 19: 29,981,646 (GRCm39) W134R probably damaging Het
Vmn2r15 A C 5: 109,445,309 (GRCm39) N38K possibly damaging Het
Wdr90 A T 17: 26,079,362 (GRCm39) D257E probably damaging Het
Zbtb9 T C 17: 27,193,098 (GRCm39) C168R possibly damaging Het
Zfp1004 T A 2: 150,035,065 (GRCm39) V462E 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
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
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
Predicted Primers PCR Primer
(F):5'- ACAGAAGGAGAGCCCATTGTCTC -3'
(R):5'- ATCCACAGCCTCAGTGTCTG -3'

Sequencing Primer
(F):5'- ACAGTACCAGACCCAGGGG -3'
(R):5'- TGTCTGAGGCATCCCCTAGAC -3'
Posted On 2014-10-02