Incidental Mutation 'R7226:Cep170b'
ID 562177
Institutional Source Beutler Lab
Gene Symbol Cep170b
Ensembl Gene ENSMUSG00000072825
Gene Name centrosomal protein 170B
Synonyms AW555464
MMRRC Submission 045298-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.538) question?
Stock # R7226 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 112687950-112713026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112704359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 706 (R706G)
Ref Sequence ENSEMBL: ENSMUSP00000098580 (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 possibly damaging
Transcript: ENSMUST00000101018
AA Change: R706G

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098580
Gene: ENSMUSG00000072825
AA Change: R706G

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: R706G

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137331
Gene: ENSMUSG00000072825
AA Change: R706G

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: R706G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000222711
AA Change: R706G

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025B11Rik C T 15: 77,443,189 (GRCm39) V17I unknown Het
Acad8 T A 9: 26,889,726 (GRCm39) K323* probably null Het
Adam18 A T 8: 25,137,824 (GRCm39) C339S probably damaging Het
Anxa7 A G 14: 20,510,263 (GRCm39) F396L probably damaging Het
Ap2m1 T A 16: 20,358,201 (GRCm39) V73D probably damaging Het
Asic2 A T 11: 80,862,340 (GRCm39) I270N probably damaging Het
Atrn T G 2: 130,828,664 (GRCm39) C1070G probably damaging Het
Bag6 A G 17: 35,361,921 (GRCm39) N517S unknown Het
Bhmt1b A G 18: 87,775,590 (GRCm39) D371G possibly damaging Het
Bltp3b A T 10: 89,644,503 (GRCm39) Q1181L probably benign Het
Cavin1 A C 11: 100,861,284 (GRCm39) D3E probably benign Het
Cc2d2b T C 19: 40,779,751 (GRCm39) L571P unknown Het
Ccbe1 A T 18: 66,216,199 (GRCm39) C175S probably damaging Het
Cd19 A G 7: 126,013,995 (GRCm39) L5P unknown Het
Cd46 A G 1: 194,724,314 (GRCm39) S362P possibly damaging Het
Celf5 A G 10: 81,303,863 (GRCm39) S198P probably damaging Het
Chd3 G T 11: 69,260,037 (GRCm39) R61S unknown Het
Cpsf6 A C 10: 117,197,727 (GRCm39) W253G unknown Het
Cyp27a1 G A 1: 74,776,507 (GRCm39) G481D probably damaging Het
Ddr1 C T 17: 36,002,039 (GRCm39) D218N possibly damaging Het
Dhx34 A T 7: 15,932,801 (GRCm39) V1046D probably damaging Het
Dhx9 A T 1: 153,341,423 (GRCm39) D608E probably benign Het
Dnajc6 C A 4: 101,496,569 (GRCm39) A912E probably damaging Het
Ehmt1 T C 2: 24,694,794 (GRCm39) D1051G probably damaging Het
Fam217b C A 2: 178,062,996 (GRCm39) A320E probably benign Het
Farsa T A 8: 85,590,689 (GRCm39) I169N probably benign Het
Fbn2 A G 18: 58,170,142 (GRCm39) C2210R probably damaging Het
Fbxo3 T A 2: 103,880,642 (GRCm39) S251T probably benign Het
Fer1l6 C T 15: 58,462,384 (GRCm39) T813I probably benign Het
Ftl1-ps1 A T 13: 74,555,114 (GRCm39) E131V probably damaging Het
Gins3 T A 8: 96,364,499 (GRCm39) I83N probably damaging Het
Gja3 T C 14: 57,273,350 (GRCm39) T341A probably benign Het
Gja5 A G 3: 96,958,174 (GRCm39) Y77C probably damaging Het
Gm7247 A G 14: 51,602,808 (GRCm39) K48R probably damaging Het
Gsx2 C A 5: 75,236,621 (GRCm39) S67* probably null Het
H2-Q5 T A 17: 35,616,089 (GRCm39) L217Q Het
Impg2 T A 16: 56,087,467 (GRCm39) C1095* probably null Het
Itga7 G T 10: 128,776,801 (GRCm39) W222L probably damaging Het
Kdm2b T A 5: 123,059,512 (GRCm39) D530V possibly damaging Het
Klhdc8a A T 1: 132,230,344 (GRCm39) D153V probably damaging Het
Lin28a C T 4: 133,733,619 (GRCm39) G143S probably damaging Het
Memo1 A G 17: 74,509,338 (GRCm39) L227S probably damaging Het
Mettl27 T A 5: 134,964,657 (GRCm39) V138E probably damaging Het
Mov10 G T 3: 104,708,328 (GRCm39) L474I probably damaging Het
Nat10 T C 2: 103,557,098 (GRCm39) N852S probably benign Het
Nfkbie T C 17: 45,870,153 (GRCm39) V166A possibly damaging Het
Nktr T C 9: 121,575,599 (GRCm39) M369T probably damaging Het
Nlrp9a A T 7: 26,258,149 (GRCm39) N589I probably benign Het
Nrn1 G A 13: 36,914,577 (GRCm39) R8C probably benign Het
Nrsn1 A G 13: 25,437,451 (GRCm39) I159T probably damaging Het
Or1e29 A G 11: 73,667,503 (GRCm39) S217P possibly damaging Het
Or2h15 C T 17: 38,441,324 (GRCm39) G253D probably benign Het
Or5p61 A T 7: 107,758,164 (GRCm39) D305E probably benign Het
Or6c88 G A 10: 129,406,584 (GRCm39) G20D probably benign Het
Osbp T A 19: 11,956,031 (GRCm39) D385E probably benign Het
Pan3 T A 5: 147,463,802 (GRCm39) N547K probably damaging Het
Pip4p2 T A 4: 14,892,464 (GRCm39) D109E probably damaging Het
Pum1 C A 4: 130,499,292 (GRCm39) T1036K probably damaging Het
Rad54l2 C A 9: 106,590,671 (GRCm39) R485L probably damaging Het
Rps26 A T 10: 128,461,087 (GRCm39) F101I unknown Het
Sdsl T C 5: 120,598,702 (GRCm39) N138S probably benign Het
Slc28a2b C A 2: 122,353,013 (GRCm39) R453S probably benign Het
Slc39a6 A T 18: 24,717,084 (GRCm39) H649Q probably damaging Het
Snip1 T A 4: 124,965,273 (GRCm39) F226Y probably benign Het
Srrd T C 5: 112,485,322 (GRCm39) T334A unknown Het
St14 C T 9: 31,011,448 (GRCm39) D448N possibly damaging Het
Tmem270 T A 5: 134,930,538 (GRCm39) Q241L probably benign Het
Tubb4b T C 2: 25,114,180 (GRCm39) D41G probably benign Het
Usf3 T C 16: 44,040,368 (GRCm39) M1616T possibly damaging Het
Vmn2r95 A T 17: 18,672,245 (GRCm39) I733F possibly damaging Het
Zfp976 A T 7: 42,262,684 (GRCm39) C385* probably null 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
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
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'- TCAGGTCCTCACCATAGACATAG -3'
(R):5'- ACCCATGCTAGATCCTCCTG -3'

Sequencing Primer
(F):5'- ACATAGTTTGTCTCAGCTTGGGC -3'
(R):5'- AGATCCTCCTGCCGCTCTG -3'
Posted On 2019-06-26