Incidental Mutation 'R7724:Ctc1'
ID 595410
Institutional Source Beutler Lab
Gene Symbol Ctc1
Ensembl Gene ENSMUSG00000020898
Gene Name CTS telomere maintenance complex component 1
Synonyms 1500010J02Rik
MMRRC Submission 045780-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7724 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 68906737-68927299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 68917170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 355 (H355N)
Ref Sequence ENSEMBL: ENSMUSP00000112063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021278] [ENSMUST00000116359] [ENSMUST00000152979] [ENSMUST00000161455]
AlphaFold Q5SUQ9
Predicted Effect probably benign
Transcript: ENSMUST00000021278
AA Change: H355N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021278
Gene: ENSMUSG00000020898
AA Change: H355N

DomainStartEndE-ValueType
Pfam:CTC1 60 1195 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116359
AA Change: H355N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112063
Gene: ENSMUSG00000020898
AA Change: H355N

DomainStartEndE-ValueType
Pfam:CTC1 61 1196 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152979
Predicted Effect possibly damaging
Transcript: ENSMUST00000161455
AA Change: H109N

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124702
Gene: ENSMUSG00000020898
AA Change: H109N

DomainStartEndE-ValueType
Pfam:CTC1 1 949 N/A PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A C 15: 57,885,857 (GRCm39) S342A probably benign Het
Adarb2 C A 13: 8,620,292 (GRCm39) H259Q probably benign Het
Ak7 T A 12: 105,682,289 (GRCm39) I150N probably damaging Het
Arhgef12 A T 9: 42,938,567 (GRCm39) I75N probably damaging Het
Arhgef17 C T 7: 100,529,816 (GRCm39) G480S probably damaging Het
Atic T C 1: 71,604,060 (GRCm39) Y208H probably damaging Het
Atp8b4 T A 2: 126,164,813 (GRCm39) N1168Y possibly damaging Het
Ccdc202 A G 14: 96,119,686 (GRCm39) N148D possibly damaging Het
Cdh15 G T 8: 123,593,700 (GRCm39) D765Y probably damaging Het
Celf4 C T 18: 25,619,850 (GRCm39) probably null Het
Cep57l1 G A 10: 41,621,838 (GRCm39) T26M possibly damaging Het
Ces2g T A 8: 105,693,484 (GRCm39) D388E probably benign Het
Cir1 T C 2: 73,137,234 (GRCm39) N69S possibly damaging Het
Ebf2 A T 14: 67,661,489 (GRCm39) K539M probably damaging Het
Ehbp1 G A 11: 22,039,572 (GRCm39) H843Y probably null Het
Fat2 C T 11: 55,175,622 (GRCm39) G1697E probably damaging Het
Fga A G 3: 82,936,432 (GRCm39) D76G probably damaging Het
Fn1 A T 1: 71,642,894 (GRCm39) S1786T probably benign Het
Frmpd1 A T 4: 45,229,888 (GRCm39) E18D probably damaging Het
Gbp8 A T 5: 105,179,160 (GRCm39) I113N probably damaging Het
Gm10549 A T 18: 33,603,912 (GRCm39) R132* probably null Het
Gmps T A 3: 63,893,074 (GRCm39) D126E possibly damaging Het
Gria4 A G 9: 4,472,074 (GRCm39) Y472H probably damaging Het
Helz2 T C 2: 180,873,789 (GRCm39) Y2235C probably damaging Het
Hrnr A G 3: 93,230,323 (GRCm39) N187S unknown Het
Ifit1bl1 T C 19: 34,571,405 (GRCm39) K351E probably benign Het
Klhl23 A G 2: 69,655,056 (GRCm39) T309A probably benign Het
Ldhal6b A G 17: 5,468,877 (GRCm39) V19A probably benign Het
Lrrc59 C T 11: 94,534,170 (GRCm39) R243C probably damaging Het
Magi3 A C 3: 103,923,243 (GRCm39) I1158R probably benign Het
Mical2 T A 7: 111,922,833 (GRCm39) Y613N probably damaging Het
Myoc T A 1: 162,467,396 (GRCm39) probably null Het
Npas3 C A 12: 54,115,124 (GRCm39) S682Y possibly damaging Het
Ogdh T C 11: 6,274,887 (GRCm39) V172A probably benign Het
Or2t46 T A 11: 58,472,208 (GRCm39) H179Q probably benign Het
Or52r1c T A 7: 102,735,470 (GRCm39) C243* probably null Het
Or56a42-ps1 A G 7: 104,777,459 (GRCm39) Y52H probably damaging Het
Or8k30 A G 2: 86,338,949 (GRCm39) T49A probably damaging Het
Or8s5 A T 15: 98,238,775 (GRCm39) S32T possibly damaging Het
P2rx7 A T 5: 122,811,436 (GRCm39) I331F probably benign Het
Pcdhb14 A T 18: 37,581,937 (GRCm39) T348S possibly damaging Het
Prdx6b A G 2: 80,123,746 (GRCm39) E185G probably benign Het
Rdh1 A G 10: 127,600,576 (GRCm39) K200E possibly damaging Het
Sema6c A T 3: 95,080,510 (GRCm39) R935W probably damaging Het
Serpinb5 A T 1: 106,802,872 (GRCm39) I136F probably damaging Het
Skint10 A T 4: 112,622,289 (GRCm39) Y31* probably null Het
St6galnac1 C T 11: 116,656,898 (GRCm39) probably null Het
Synj1 G A 16: 90,758,387 (GRCm39) T819M probably damaging Het
Tacr3 T A 3: 134,635,669 (GRCm39) V291E probably damaging Het
Tdo2 A G 3: 81,875,390 (GRCm39) probably null Het
Tex15 T A 8: 34,036,291 (GRCm39) D72E possibly damaging Het
Tph2 T C 10: 114,915,727 (GRCm39) T438A probably benign Het
Uaca A G 9: 60,777,187 (GRCm39) T525A probably benign Het
Ulk1 A T 5: 110,940,270 (GRCm39) C384S probably benign Het
Uvrag T C 7: 98,641,170 (GRCm39) D290G probably benign Het
Zfp541 T C 7: 15,805,919 (GRCm39) L18P probably damaging 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
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
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'- TTGCAAGTAACCAAGACCCG -3'
(R):5'- ATCTTCTGGTATGCGAGGCAG -3'

Sequencing Primer
(F):5'- AAGACCCGGATTCACCTTTC -3'
(R):5'- GAGAATCAGCTGCCCATCTAGAATG -3'
Posted On 2019-11-12