Incidental Mutation 'R7252:Ctc1'
ID 564020
Institutional Source Beutler Lab
Gene Symbol Ctc1
Ensembl Gene ENSMUSG00000020898
Gene Name CTS telomere maintenance complex component 1
Synonyms 1500010J02Rik
MMRRC Submission 045385-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7252 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 68906737-68927299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68917000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 298 (I298N)
Ref Sequence ENSEMBL: ENSMUSP00000112063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021278] [ENSMUST00000116359] [ENSMUST00000152979] [ENSMUST00000161455]
AlphaFold Q5SUQ9
Predicted Effect probably damaging
Transcript: ENSMUST00000021278
AA Change: I298N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021278
Gene: ENSMUSG00000020898
AA Change: I298N

DomainStartEndE-ValueType
Pfam:CTC1 60 1195 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000116359
AA Change: I298N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112063
Gene: ENSMUSG00000020898
AA Change: I298N

DomainStartEndE-ValueType
Pfam:CTC1 61 1196 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152979
Predicted Effect possibly damaging
Transcript: ENSMUST00000161455
AA Change: I52N

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124702
Gene: ENSMUSG00000020898
AA Change: I52N

DomainStartEndE-ValueType
Pfam:CTC1 1 949 N/A PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 99% (81/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a targeted allele exhibit defective telomere replication that leads to stem cell exhaustion, bone marrow failure and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik G T X: 77,414,311 (GRCm39) M345I probably benign Het
Abcc2 T A 19: 43,816,388 (GRCm39) I1226N probably damaging Het
Adarb2 A G 13: 8,620,216 (GRCm39) E234G probably benign Het
Ankrd52 T C 10: 128,217,865 (GRCm39) S282P probably damaging Het
Arhgef12 A T 9: 42,927,205 (GRCm39) S306R probably benign Het
Baiap2 G T 11: 119,893,865 (GRCm39) A514S probably benign Het
BC030500 T A 8: 59,364,838 (GRCm39) probably null Het
C1qtnf12 T A 4: 156,047,072 (GRCm39) W13R unknown Het
Ccdc158 A G 5: 92,798,647 (GRCm39) V351A probably benign Het
Cct8 T C 16: 87,281,807 (GRCm39) E485G probably benign Het
Cep85 T C 4: 133,875,342 (GRCm39) D542G probably benign Het
Clhc1 T A 11: 29,513,937 (GRCm39) S340R probably benign Het
Cnot4 A T 6: 35,046,362 (GRCm39) D168E probably damaging Het
Cntn5 G A 9: 9,831,640 (GRCm39) T375I probably benign Het
Dchs2 T A 3: 83,232,610 (GRCm39) N2198K probably benign Het
Ddx6 G A 9: 44,535,050 (GRCm39) probably null Het
Defb11 A G 8: 22,395,473 (GRCm39) I68T probably benign Het
Dip2a C T 10: 76,109,036 (GRCm39) V1212I not run Het
Dop1a T A 9: 86,382,874 (GRCm39) I269N probably damaging Het
Efna3 C T 3: 89,223,971 (GRCm39) G73S possibly damaging Het
Fam98b C G 2: 117,094,373 (GRCm39) R228G probably damaging Het
Fancd2 A T 6: 113,533,246 (GRCm39) N521I probably damaging Het
Farsa A G 8: 85,587,957 (GRCm39) D134G probably damaging Het
Fat2 A T 11: 55,202,088 (GRCm39) F329I probably damaging Het
Gm14399 A T 2: 174,974,991 (GRCm39) I43K probably damaging Het
Gpr15 A G 16: 58,538,760 (GRCm39) S110P probably damaging Het
Gpr157 T C 4: 150,183,331 (GRCm39) V167A probably benign Het
Hacd4 A G 4: 88,345,000 (GRCm39) I134T possibly damaging Het
Hpgd T A 8: 56,751,461 (GRCm39) N96K probably damaging Het
Insm2 A T 12: 55,647,305 (GRCm39) T350S probably benign Het
Iqch C T 9: 63,419,518 (GRCm39) probably null Het
Kmt2d A G 15: 98,742,147 (GRCm39) S4338P unknown Het
Krtap9-3 A G 11: 99,488,796 (GRCm39) S29P probably benign Het
Kyat3 T A 3: 142,426,219 (GRCm39) S87T probably benign Het
Minar2 A G 18: 59,199,980 (GRCm39) probably null Het
Mrpl46 T C 7: 78,430,336 (GRCm39) T145A probably benign Het
Neb A G 2: 52,214,973 (GRCm39) probably null Het
Or2aj5 A T 16: 19,425,249 (GRCm39) H55Q probably damaging Het
Or4c124 T A 2: 89,156,629 (GRCm39) probably benign Het
Or6x1 C T 9: 40,098,657 (GRCm39) T82I probably benign Het
Or7g17 A G 9: 18,768,548 (GRCm39) Y200C probably damaging Het
Or9a7 A G 6: 40,521,703 (GRCm39) I70T probably benign Het
Otogl T C 10: 107,657,804 (GRCm39) D1042G probably benign Het
Paxip1 C T 5: 27,965,084 (GRCm39) V659I probably damaging Het
Pfkl A G 10: 77,829,263 (GRCm39) W382R probably damaging Het
Pfn1 A G 11: 70,545,297 (GRCm39) W4R probably damaging Het
Pik3c2b G A 1: 133,022,472 (GRCm39) R1138H probably benign Het
Pkd1l3 A G 8: 110,387,330 (GRCm39) D1758G probably benign Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Pramel29 T C 4: 143,939,510 (GRCm39) D9G possibly damaging Het
Prdm12 A G 2: 31,532,386 (GRCm39) N132S possibly damaging Het
Prokr2 T A 2: 132,223,360 (GRCm39) M61L probably benign Het
Ralgapa2 T C 2: 146,184,671 (GRCm39) probably null Het
Ralgps1 A T 2: 33,058,200 (GRCm39) D301E probably benign Het
Rcbtb2 T C 14: 73,404,220 (GRCm39) Y231H probably damaging Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Relb C A 7: 19,346,538 (GRCm39) E345* probably null Het
Rhbdl3 A C 11: 80,228,411 (GRCm39) M294L possibly damaging Het
Rpl24 G A 16: 55,790,479 (GRCm39) A112T possibly damaging Het
Rsbn1l C T 5: 21,113,196 (GRCm39) R442Q probably damaging Het
Rxfp3 A T 15: 11,036,025 (GRCm39) I449N probably benign Het
Sema4c A C 1: 36,589,096 (GRCm39) C677G probably damaging Het
Sf3b3 A C 8: 111,566,562 (GRCm39) I256S probably damaging Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Slc39a6 G T 18: 24,734,442 (GRCm39) N82K possibly damaging Het
Slc3a2 T C 19: 8,700,521 (GRCm39) probably benign Het
Stard13 T C 5: 150,986,634 (GRCm39) Q292R probably benign Het
Tgm6 A G 2: 129,986,884 (GRCm39) R451G probably damaging Het
Tspo G T 15: 83,456,466 (GRCm39) G83V probably damaging Het
Ubxn10 T C 4: 138,448,187 (GRCm39) Q163R probably benign Het
Ushbp1 A G 8: 71,847,246 (GRCm39) S129P probably benign Het
Vmn2r23 T A 6: 123,718,540 (GRCm39) V631D probably damaging Het
Vmn2r24 T C 6: 123,764,191 (GRCm39) I356T possibly damaging Het
Vmn2r84 C T 10: 130,222,279 (GRCm39) C647Y probably damaging Het
Vps13a T C 19: 16,638,428 (GRCm39) E2356G probably benign Het
Wdr64 A G 1: 175,603,240 (GRCm39) T614A probably benign Het
Zdhhc16 G T 19: 41,929,990 (GRCm39) W271L probably damaging Het
Zer1 A C 2: 29,991,904 (GRCm39) S652A probably damaging Het
Zfp287 A G 11: 62,615,655 (GRCm39) V224A probably damaging Het
Zfp438 A T 18: 5,214,874 (GRCm39) L28* probably null Het
Zfp830 G A 11: 82,655,534 (GRCm39) A113T probably benign Het
Zfp865 G T 7: 5,037,416 (GRCm39) probably benign Het
Other mutations in Ctc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02005:Ctc1 APN 11 68,921,975 (GRCm39) missense probably damaging 1.00
IGL02135:Ctc1 APN 11 68,911,989 (GRCm39) missense probably benign 0.25
IGL02164:Ctc1 APN 11 68,916,922 (GRCm39) missense probably damaging 0.99
IGL02337:Ctc1 APN 11 68,916,957 (GRCm39) missense probably damaging 1.00
IGL03149:Ctc1 APN 11 68,921,987 (GRCm39) missense possibly damaging 0.55
PIT4810001:Ctc1 UTSW 11 68,913,352 (GRCm39) missense probably benign 0.38
R0295:Ctc1 UTSW 11 68,921,414 (GRCm39) missense possibly damaging 0.75
R0320:Ctc1 UTSW 11 68,924,363 (GRCm39) missense probably damaging 1.00
R0496:Ctc1 UTSW 11 68,926,333 (GRCm39) missense probably damaging 1.00
R1497:Ctc1 UTSW 11 68,913,387 (GRCm39) missense probably benign 0.00
R1607:Ctc1 UTSW 11 68,926,976 (GRCm39) missense possibly damaging 0.82
R1623:Ctc1 UTSW 11 68,911,968 (GRCm39) missense probably damaging 0.99
R1856:Ctc1 UTSW 11 68,925,484 (GRCm39) missense probably damaging 1.00
R1876:Ctc1 UTSW 11 68,922,390 (GRCm39) missense probably benign 0.24
R1967:Ctc1 UTSW 11 68,918,688 (GRCm39) critical splice acceptor site probably null
R2164:Ctc1 UTSW 11 68,926,441 (GRCm39) missense possibly damaging 0.92
R2348:Ctc1 UTSW 11 68,917,017 (GRCm39) missense probably benign 0.43
R2428:Ctc1 UTSW 11 68,918,527 (GRCm39) missense possibly damaging 0.51
R3964:Ctc1 UTSW 11 68,921,954 (GRCm39) missense probably damaging 1.00
R3965:Ctc1 UTSW 11 68,921,954 (GRCm39) missense probably damaging 1.00
R3966:Ctc1 UTSW 11 68,921,954 (GRCm39) missense probably damaging 1.00
R4398:Ctc1 UTSW 11 68,913,697 (GRCm39) missense probably damaging 1.00
R4508:Ctc1 UTSW 11 68,906,943 (GRCm39) splice site probably null
R4605:Ctc1 UTSW 11 68,920,552 (GRCm39) missense possibly damaging 0.86
R4976:Ctc1 UTSW 11 68,918,152 (GRCm39) missense probably damaging 1.00
R4979:Ctc1 UTSW 11 68,924,328 (GRCm39) missense probably damaging 1.00
R5268:Ctc1 UTSW 11 68,920,636 (GRCm39) missense possibly damaging 0.67
R6023:Ctc1 UTSW 11 68,913,433 (GRCm39) missense probably benign 0.00
R6053:Ctc1 UTSW 11 68,918,727 (GRCm39) missense probably benign 0.01
R7204:Ctc1 UTSW 11 68,920,567 (GRCm39) missense probably damaging 1.00
R7357:Ctc1 UTSW 11 68,925,568 (GRCm39) missense probably benign 0.17
R7654:Ctc1 UTSW 11 68,917,041 (GRCm39) missense probably damaging 1.00
R7724:Ctc1 UTSW 11 68,917,170 (GRCm39) missense probably benign 0.00
R7890:Ctc1 UTSW 11 68,917,355 (GRCm39) missense probably damaging 1.00
R7979:Ctc1 UTSW 11 68,918,209 (GRCm39) nonsense probably null
R8042:Ctc1 UTSW 11 68,920,669 (GRCm39) intron probably benign
R8167:Ctc1 UTSW 11 68,918,584 (GRCm39) missense probably damaging 1.00
R8179:Ctc1 UTSW 11 68,915,050 (GRCm39) missense probably benign 0.18
R8353:Ctc1 UTSW 11 68,913,275 (GRCm39) missense probably benign 0.03
R8453:Ctc1 UTSW 11 68,913,275 (GRCm39) missense probably benign 0.03
R8465:Ctc1 UTSW 11 68,917,045 (GRCm39) missense probably damaging 1.00
R8948:Ctc1 UTSW 11 68,917,175 (GRCm39) nonsense probably null
R9286:Ctc1 UTSW 11 68,917,180 (GRCm39) critical splice donor site probably null
R9495:Ctc1 UTSW 11 68,913,593 (GRCm39) missense probably damaging 1.00
R9585:Ctc1 UTSW 11 68,925,490 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATTGTTGTGGGAAGGGCC -3'
(R):5'- CAGGTGTCACAACCTCTAAGATC -3'

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