Incidental Mutation 'R0496:Ctc1'
ID 43956
Institutional Source Beutler Lab
Gene Symbol Ctc1
Ensembl Gene ENSMUSG00000020898
Gene Name CTS telomere maintenance complex component 1
Synonyms 1500010J02Rik
MMRRC Submission 038692-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0496 (G1)
Quality Score 177
Status Validated
Chromosome 11
Chromosomal Location 68906737-68927299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68926333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1069 (L1069P)
Ref Sequence ENSEMBL: ENSMUSP00000021278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021278] [ENSMUST00000116359] [ENSMUST00000152979] [ENSMUST00000161455]
AlphaFold Q5SUQ9
Predicted Effect probably damaging
Transcript: ENSMUST00000021278
AA Change: L1069P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021278
Gene: ENSMUSG00000020898
AA Change: L1069P

DomainStartEndE-ValueType
Pfam:CTC1 60 1195 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000116359
AA Change: L1070P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112063
Gene: ENSMUSG00000020898
AA Change: L1070P

DomainStartEndE-ValueType
Pfam:CTC1 61 1196 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143404
Predicted Effect probably benign
Transcript: ENSMUST00000152979
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154126
Predicted Effect probably damaging
Transcript: ENSMUST00000161455
AA Change: L823P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124702
Gene: ENSMUSG00000020898
AA Change: L823P

DomainStartEndE-ValueType
Pfam:CTC1 1 949 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162256
Meta Mutation Damage Score 0.5642 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 98% (99/101)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,774,005 (GRCm39) K1065E probably damaging Het
4933402N03Rik T C 7: 130,747,860 (GRCm39) N44S probably benign Het
Abca13 A G 11: 9,241,701 (GRCm39) D1188G probably benign Het
Abcb11 C T 2: 69,108,228 (GRCm39) probably benign Het
Abcc8 A T 7: 45,758,244 (GRCm39) I1274N probably damaging Het
Adamtsl1 G A 4: 86,259,435 (GRCm39) C827Y probably damaging Het
Agap3 T A 5: 24,706,241 (GRCm39) V369E probably damaging Het
Ankrd13b G A 11: 77,363,867 (GRCm39) R195C probably damaging Het
Ap3b1 A G 13: 94,609,446 (GRCm39) probably benign Het
Arhgef40 A T 14: 52,242,364 (GRCm39) probably benign Het
Atad5 A G 11: 79,991,182 (GRCm39) I692V probably benign Het
Atp5f1b G T 10: 127,922,043 (GRCm39) R310L possibly damaging Het
AY358078 A T 14: 52,040,989 (GRCm39) M103L unknown Het
Bcl9l T G 9: 44,420,815 (GRCm39) V1370G probably benign Het
Bglap3 T A 3: 88,276,444 (GRCm39) Q38L probably damaging Het
Bltp1 A G 3: 37,041,784 (GRCm39) T2721A probably damaging Het
Ccn2 G T 10: 24,473,413 (GRCm39) M317I possibly damaging Het
Cd38 T C 5: 44,026,233 (GRCm39) F6L probably damaging Het
Cela3a A C 4: 137,131,779 (GRCm39) V138G probably damaging Het
Cemip2 A T 19: 21,774,709 (GRCm39) N117I possibly damaging Het
Clvs1 T A 4: 9,424,241 (GRCm39) I229N probably damaging Het
Cpne1 G A 2: 155,921,339 (GRCm39) H16Y probably damaging Het
Dgkd G A 1: 87,864,622 (GRCm39) S996N probably null Het
Dnah9 A T 11: 65,965,961 (GRCm39) M1685K probably null Het
Dnajb12 C T 10: 59,715,623 (GRCm39) R42* probably null Het
Dock5 T C 14: 68,054,967 (GRCm39) Q633R probably damaging Het
Dync2h1 A G 9: 7,155,180 (GRCm39) M868T probably benign Het
Enpp1 G T 10: 24,547,950 (GRCm39) H208Q probably benign Het
Epha7 T A 4: 28,821,292 (GRCm39) D152E probably damaging Het
Fancd2 T C 6: 113,532,091 (GRCm39) probably benign Het
Gart G A 16: 91,419,925 (GRCm39) probably benign Het
Gm10964 A T 3: 103,646,745 (GRCm39) probably null Het
Gpbar1 T C 1: 74,318,140 (GRCm39) F128L probably benign Het
Gsx2 T A 5: 75,237,726 (GRCm39) M226K probably benign Het
Gucd1 T C 10: 75,347,100 (GRCm39) D50G possibly damaging Het
Has1 A G 17: 18,064,008 (GRCm39) Y544H probably benign Het
Hc A T 2: 34,903,583 (GRCm39) Y1024N probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Ift122 T A 6: 115,882,863 (GRCm39) H659Q probably benign Het
Itga2 T C 13: 114,990,435 (GRCm39) Q902R probably benign Het
Itgb2l T C 16: 96,235,901 (GRCm39) K181E possibly damaging Het
Jak3 A T 8: 72,135,041 (GRCm39) H558L probably damaging Het
Kcnh8 A G 17: 53,032,886 (GRCm39) T58A probably benign Het
Klhl6 GT G 16: 19,775,716 (GRCm39) 279 probably null Het
Krt33a C T 11: 99,903,155 (GRCm39) probably benign Het
Magi2 A T 5: 20,866,357 (GRCm39) probably benign Het
Map4 G A 9: 109,868,918 (GRCm39) probably benign Het
Map4k4 T A 1: 40,045,982 (GRCm39) S754T probably damaging Het
Mapk8ip3 A G 17: 25,133,424 (GRCm39) probably benign Het
Mib1 A G 18: 10,804,773 (GRCm39) S918G probably benign Het
Mipol1 T A 12: 57,503,963 (GRCm39) V377D probably damaging Het
Mlh1 T C 9: 111,070,624 (GRCm39) T364A probably benign Het
Mta1 C T 12: 113,094,941 (GRCm39) Q400* probably null Het
Mthfd1l C G 10: 4,040,006 (GRCm39) R806G probably benign Het
Myh13 C A 11: 67,239,641 (GRCm39) N730K probably damaging Het
Myom1 A G 17: 71,391,301 (GRCm39) K937E probably damaging Het
Naxd T C 8: 11,560,224 (GRCm39) probably benign Het
Negr1 G T 3: 156,721,904 (GRCm39) K159N probably damaging Het
Nwd2 G T 5: 63,963,686 (GRCm39) W1090L probably damaging Het
Or1e1f T C 11: 73,855,706 (GRCm39) S91P probably benign Het
Or2j3 A G 17: 38,615,549 (GRCm39) S268P probably damaging Het
Or51v14 C T 7: 103,261,204 (GRCm39) A119T probably benign Het
Or52r1c T C 7: 102,734,797 (GRCm39) I19T probably damaging Het
Or5d41 A T 2: 88,054,499 (GRCm39) Y292* probably null Het
Pcsk6 G A 7: 65,576,997 (GRCm39) S58N probably benign Het
Pdzrn3 G A 6: 101,127,531 (GRCm39) T1045I possibly damaging Het
Pitrm1 T C 13: 6,618,750 (GRCm39) L641P probably damaging Het
Pkd1l1 G T 11: 8,879,430 (GRCm39) H474N probably damaging Het
Pltp A G 2: 164,694,381 (GRCm39) probably benign Het
Qtrt1 C T 9: 21,330,844 (GRCm39) T324M probably benign Het
Racgap1 A T 15: 99,537,713 (GRCm39) probably benign Het
Rhbg A G 3: 88,161,805 (GRCm39) V50A probably benign Het
Rnf135 G A 11: 80,074,776 (GRCm39) V12M probably damaging Het
Rnf7l G T 10: 63,257,381 (GRCm39) C46* probably null Het
Rufy2 T C 10: 62,828,949 (GRCm39) V117A probably damaging Het
Safb A G 17: 56,912,630 (GRCm39) M866V probably benign Het
Slc35c2 G T 2: 165,122,735 (GRCm39) T183K probably damaging Het
Slc39a7 A G 17: 34,248,512 (GRCm39) L377P probably damaging Het
Slit1 G A 19: 41,596,750 (GRCm39) probably benign Het
Spaca9 G A 2: 28,583,022 (GRCm39) H133Y probably damaging Het
Spout1 A G 2: 30,064,983 (GRCm39) F339S probably benign Het
St6gal2 A G 17: 55,789,015 (GRCm39) I16M probably damaging Het
Stat2 T C 10: 128,112,378 (GRCm39) M6T probably benign Het
Swt1 T A 1: 151,287,021 (GRCm39) H157L probably benign Het
Syne2 A G 12: 76,085,714 (GRCm39) N147D possibly damaging Het
Tmem222 A T 4: 133,004,902 (GRCm39) M45K possibly damaging Het
Tmem30a T A 9: 79,684,567 (GRCm39) H95L probably damaging Het
Tns3 A C 11: 8,497,262 (GRCm39) probably benign Het
Trpm3 A G 19: 22,676,142 (GRCm39) I103V probably benign Het
Ube2n T C 10: 95,377,206 (GRCm39) F57S probably benign Het
Vil1 T C 1: 74,460,499 (GRCm39) S219P possibly damaging Het
Wdfy4 A G 14: 32,862,695 (GRCm39) probably benign Het
Wdr7 T C 18: 63,924,914 (GRCm39) S966P probably benign Het
Wnt8a A G 18: 34,677,900 (GRCm39) N103D probably damaging Het
Zfp523 G A 17: 28,419,419 (GRCm39) E186K possibly damaging Het
Zfp791 A T 8: 85,836,609 (GRCm39) D418E probably benign Het
Zscan20 A G 4: 128,485,682 (GRCm39) V192A 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
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
R7252:Ctc1 UTSW 11 68,917,000 (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'- GCAGCTTCTGATGTCTACAGTAGCG -3'
(R):5'- TAGCCCTGTAAACTGCAAGGCCAC -3'

Sequencing Primer
(F):5'- agggtggtgttgagaaagg -3'
(R):5'- CTGCAAGGCCACTCTCC -3'
Posted On 2013-05-29