Incidental Mutation 'R1497:Ctc1'
ID 168976
Institutional Source Beutler Lab
Gene Symbol Ctc1
Ensembl Gene ENSMUSG00000020898
Gene Name CTS telomere maintenance complex component 1
Synonyms 1500010J02Rik
MMRRC Submission 039548-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1497 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 68906737-68927299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68913387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 128 (C128S)
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: C128S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021278
Gene: ENSMUSG00000020898
AA Change: C128S

DomainStartEndE-ValueType
Pfam:CTC1 60 1195 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116359
AA Change: C128S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112063
Gene: ENSMUSG00000020898
AA Change: C128S

DomainStartEndE-ValueType
Pfam:CTC1 61 1196 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146621
Predicted Effect probably benign
Transcript: ENSMUST00000152979
Predicted Effect probably benign
Transcript: ENSMUST00000161455
SMART Domains Protein: ENSMUSP00000124702
Gene: ENSMUSG00000020898

DomainStartEndE-ValueType
Pfam:CTC1 1 949 N/A PFAM
Meta Mutation Damage Score 0.0700 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 99% (79/80)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,864,647 (GRCm39) probably benign Het
Abhd17a A G 10: 80,420,164 (GRCm39) probably benign Het
Acacb G A 5: 114,334,868 (GRCm39) E646K probably damaging Het
Afap1l2 T C 19: 56,916,743 (GRCm39) M262V probably benign Het
Anapc7 T A 5: 122,573,578 (GRCm39) probably benign Het
Car5b T A X: 162,771,400 (GRCm39) K188N probably benign Het
Caskin1 C T 17: 24,723,515 (GRCm39) R768* probably null Het
Casp8ap2 T C 4: 32,639,938 (GRCm39) S331P probably benign Het
Ccdc68 C T 18: 70,093,585 (GRCm39) probably benign Het
Cd44 A T 2: 102,673,300 (GRCm39) probably null Het
Celsr3 A G 9: 108,726,064 (GRCm39) S3090G probably benign Het
Clasp1 A T 1: 118,479,788 (GRCm39) M1023L probably benign Het
Clec16a T C 16: 10,453,123 (GRCm39) F608S probably damaging Het
Col7a1 A C 9: 108,807,893 (GRCm39) E2531A unknown Het
Cyp2d41-ps T C 15: 82,666,223 (GRCm39) noncoding transcript Het
Cyp2j6 T A 4: 96,419,898 (GRCm39) I278F probably damaging Het
Dhtkd1 A T 2: 5,908,924 (GRCm39) S723R probably damaging Het
Dhx8 A G 11: 101,626,213 (GRCm39) probably benign Het
Dnah17 A T 11: 118,005,059 (GRCm39) L775Q probably damaging Het
Dnah8 C A 17: 30,971,049 (GRCm39) T2701K probably damaging Het
Eml3 T A 19: 8,913,733 (GRCm39) S424R probably damaging Het
Epm2aip1 A G 9: 111,101,315 (GRCm39) E96G possibly damaging Het
Ezr T C 17: 7,010,107 (GRCm39) H314R probably benign Het
Fam193b G T 13: 55,702,247 (GRCm39) H43Q probably damaging Het
Fam217a T A 13: 35,095,195 (GRCm39) N340I probably damaging Het
Fcrl1 A T 3: 87,292,109 (GRCm39) Q89H probably damaging Het
Flg2 A T 3: 93,127,076 (GRCm39) H1996L unknown Het
Gabpb1 C T 2: 126,481,169 (GRCm39) V327M possibly damaging Het
Gtf3c3 A G 1: 54,477,098 (GRCm39) V36A probably benign Het
Hspg2 A G 4: 137,275,407 (GRCm39) N2739S probably damaging Het
Hyal1 A G 9: 107,455,194 (GRCm39) probably null Het
Ipo13 T C 4: 117,761,856 (GRCm39) D448G probably benign Het
Kcnq5 T C 1: 21,472,610 (GRCm39) D860G possibly damaging Het
Kif13b A G 14: 64,973,715 (GRCm39) N355S probably damaging Het
Kmt2c T A 5: 25,519,513 (GRCm39) H2199L possibly damaging Het
Magi1 A G 6: 93,724,310 (GRCm39) F235S probably damaging Het
Maml1 A C 11: 50,156,534 (GRCm39) M547R possibly damaging Het
Mapk7 T C 11: 61,384,689 (GRCm39) K6E possibly damaging Het
Mbd5 T A 2: 49,147,393 (GRCm39) N534K possibly damaging Het
Mcat G A 15: 83,433,453 (GRCm39) Q34* probably null Het
Mcu T A 10: 59,284,670 (GRCm39) D180V probably damaging Het
Mettl21c G T 1: 44,048,951 (GRCm39) P199T probably benign Het
Mndal A T 1: 173,700,441 (GRCm39) S177T probably benign Het
Mpeg1 G T 19: 12,438,611 (GRCm39) C23F probably benign Het
Mup15 T A 4: 61,356,471 (GRCm39) Y98F probably benign Het
Myh8 T C 11: 67,180,638 (GRCm39) S625P probably benign Het
Nipsnap2 T C 5: 129,830,282 (GRCm39) probably benign Het
Nlrp4e T C 7: 23,019,797 (GRCm39) S95P probably benign Het
Or1e19 T A 11: 73,316,653 (GRCm39) D52V possibly damaging Het
Or4a66 T C 2: 88,531,106 (GRCm39) D189G probably damaging Het
Otop2 A G 11: 115,220,675 (GRCm39) probably null Het
Pcnx4 G C 12: 72,621,174 (GRCm39) G998A probably benign Het
Pnkd C A 1: 74,390,681 (GRCm39) probably null Het
Ppp4r4 T A 12: 103,573,204 (GRCm39) V701E probably benign Het
Ryr2 A G 13: 11,616,727 (GRCm39) I3897T probably damaging Het
Scn1a T C 2: 66,162,631 (GRCm39) E205G probably damaging Het
Sdk2 G A 11: 113,784,401 (GRCm39) probably benign Het
Serpinb5 A T 1: 106,803,782 (GRCm39) Q156L probably benign Het
Setdb1 A T 3: 95,234,778 (GRCm39) V975D probably benign Het
Shc1 A G 3: 89,335,752 (GRCm39) *470W probably null Het
Sik3 T A 9: 46,113,320 (GRCm39) V587E probably damaging Het
Sik3 C A 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Spata7 T C 12: 98,635,120 (GRCm39) I384T probably damaging Het
Tanc2 T A 11: 105,812,963 (GRCm39) V1469D probably benign Het
Tasor2 T C 13: 3,620,409 (GRCm39) E2164G probably damaging Het
Tdrd5 A T 1: 156,083,372 (GRCm39) N888K probably benign Het
Tex22 T C 12: 113,039,000 (GRCm39) S34P probably benign Het
Tmed6 T C 8: 107,790,754 (GRCm39) T98A probably benign Het
Trim66 G A 7: 109,083,826 (GRCm39) P141L probably benign Het
Trpa1 T C 1: 14,956,036 (GRCm39) I778V probably benign Het
Urb2 T A 8: 124,754,816 (GRCm39) H174Q probably damaging Het
Usb1 T C 8: 96,065,325 (GRCm39) V59A probably benign Het
Vmn1r11 T A 6: 57,114,394 (GRCm39) N19K probably damaging Het
Vmn1r185 A T 7: 26,311,219 (GRCm39) F95L probably benign Het
Vmn1r206 C T 13: 22,805,160 (GRCm39) V16M probably benign Het
Vmn2r92 T C 17: 18,387,625 (GRCm39) V210A probably benign Het
Wdr17 A T 8: 55,125,536 (GRCm39) I448K possibly damaging Het
Zfp768 T A 7: 126,942,733 (GRCm39) Q465L probably damaging Het
Zfp804b T A 5: 6,821,105 (GRCm39) N617Y 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
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'- ACAGAGTCTGAAGACCCATCAGCG -3'
(R):5'- TGTACCCCATAGTTCCAAGTGCCC -3'

Sequencing Primer
(F):5'- ATCAGCGCCTCCCATGC -3'
(R):5'- TTCCTCTTGGCAGAAGGAAG -3'
Posted On 2014-04-13