Mutagenetix > Incidental Mutation

Incidental Mutation 'R2164:Ctc1'

235368

Institutional Source

Beutler Lab

Gene Symbol

Ctc1

Ensembl Gene

ENSMUSG00000020898

Gene Name

CTS telomere maintenance complex component 1

Synonyms

MMRRC Submission

040167-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69015911-69036473 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69035615 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 859 (A859V)

Ref Sequence

ENSEMBL: ENSMUSP00000124702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021278] [ENSMUST00000116359] [ENSMUST00000152979] [ENSMUST00000161455]

AlphaFold

Q5SUQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000021278
AA Change: A1105V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000021278
Gene: ENSMUSG00000020898
AA Change: A1105V

Domain	Start	End	E-Value	Type
Pfam:CTC1	60	1195	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116359
AA Change: A1106V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112063
Gene: ENSMUSG00000020898
AA Change: A1106V

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000161271

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161455
AA Change: A859V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124702
Gene: ENSMUSG00000020898
AA Change: A859V

Domain	Start	End	E-Value	Type
Pfam:CTC1	1	949	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162256

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	CTGTAGGAAATCTTCAATGT	CTGT	11: 110,210,193		probably null	Het
Adcy8	C	T	15: 64,920,934	G58S	probably benign	Het
Adgra2	T	A	8: 27,114,204	L24*	probably null	Het
Ampd2	C	A	3: 108,085,369		probably benign	Het
Ankrd26	T	G	6: 118,525,791	E806A	probably damaging	Het
Apol9b	A	G	15: 77,735,439	D145G	probably benign	Het
Ash1l	T	A	3: 88,985,419	M1535K	probably benign	Het
Atf6	A	G	1: 170,794,735	M439T	probably damaging	Het
B3glct	A	T	5: 149,754,156	M417L	probably damaging	Het
Cep192	A	T	18: 67,820,360	T483S	probably damaging	Het
Cep290	G	A	10: 100,518,795	E914K	probably damaging	Het
Chst15	C	T	7: 132,270,385	A56T	probably damaging	Het
Col27a1	A	T	4: 63,225,424	T450S	probably benign	Het
Cpsf2	A	G	12: 101,985,335	N177S	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Dcakd	A	G	11: 102,997,357	Y134H	possibly damaging	Het
Dctn3	G	T	4: 41,723,065	Y22*	probably null	Het
Dync2h1	T	A	9: 7,124,797	D2025V	probably damaging	Het
Dync2li1	T	C	17: 84,636,274	S92P	probably damaging	Het
Eml5	A	G	12: 98,887,097	V81A	probably damaging	Het
Espl1	C	T	15: 102,319,588	R1625C	probably damaging	Het
Fam181a	T	C	12: 103,316,526	V230A	probably benign	Het
Fam213b	T	G	4: 154,898,149	Y56S	probably damaging	Het
Fanci	T	A	7: 79,395,995	D28E	probably benign	Het
Fmn1	A	G	2: 113,365,617	N554S	unknown	Het
Frem2	T	C	3: 53,537,330	Y2460C	probably damaging	Het
Fscb	G	A	12: 64,473,793	P300S	probably damaging	Het
Gm28042	A	G	2: 120,036,748	D438G	probably benign	Het
Map1b	C	T	13: 99,429,338	V2292M	unknown	Het
Nbas	A	G	12: 13,330,646	D635G	possibly damaging	Het
Ncapg2	A	G	12: 116,450,475		probably null	Het
Nrp2	A	T	1: 62,744,355	E205V	probably damaging	Het
Pcdhb3	A	T	18: 37,302,186	T402S	possibly damaging	Het
Phc1	T	C	6: 122,322,337	N638D	possibly damaging	Het
Plcb1	A	G	2: 135,346,330	N781S	possibly damaging	Het
Prkdc	T	A	16: 15,705,207	D1164E	probably damaging	Het
Proser2	T	A	2: 6,100,695	R353W	possibly damaging	Het
Ptges	T	A	2: 30,892,696	T115S	probably benign	Het
Ptprk	A	T	10: 28,560,142	D833V	probably damaging	Het
Pum1	T	A	4: 130,728,083	L173*	probably null	Het
Pum1	G	T	4: 130,728,084	L269F	probably damaging	Het
Rasgrp4	A	G	7: 29,139,045	Y106C	probably damaging	Het
Rbbp6	T	A	7: 122,999,474		probably benign	Het
Rdh1	A	G	10: 127,760,172	T79A	possibly damaging	Het
Relb	A	C	7: 19,613,761		probably null	Het
Rnf122	G	A	8: 31,112,164	W6*	probably null	Het
Rnf31	A	G	14: 55,592,537	E138G	possibly damaging	Het
Scaf8	G	A	17: 3,197,210	R936Q	probably damaging	Het
Scube3	T	A	17: 28,166,134	V686D	possibly damaging	Het
Snrnp27	A	T	6: 86,676,214	C141S	probably benign	Het
Spns2	C	T	11: 72,458,671	V252M	possibly damaging	Het
Tmem159	A	G	7: 120,120,239	E157G	possibly damaging	Het
Tomm40l	C	T	1: 171,220,134	S220N	probably damaging	Het
Trim17	A	G	11: 58,971,411	D423G	probably damaging	Het
Trpc6	A	AT	9: 8,610,465		probably null	Het
Uba5	A	T	9: 104,060,243	M89K	probably damaging	Het
Vav2	T	C	2: 27,273,706	D628G	probably damaging	Het
Vmn2r107	T	C	17: 20,375,642	L819P	probably damaging	Het
Vmn2r25	A	T	6: 123,839,559	D354E	possibly damaging	Het
Xrn1	A	G	9: 96,006,820	E984G	possibly damaging	Het
Zbtb17	T	C	4: 141,464,246	V223A	probably benign	Het
Zcchc11	G	A	4: 108,503,029	R481Q	possibly damaging	Het
Zfp592	T	C	7: 81,041,438	S1122P	possibly damaging	Het

Other mutations in Ctc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02005:Ctc1	APN	11	69031149	missense	probably damaging	1.00
IGL02135:Ctc1	APN	11	69021163	missense	probably benign	0.25
IGL02164:Ctc1	APN	11	69026096	missense	probably damaging	0.99
IGL02337:Ctc1	APN	11	69026131	missense	probably damaging	1.00
IGL03149:Ctc1	APN	11	69031161	missense	possibly damaging	0.55
PIT4810001:Ctc1	UTSW	11	69022526	missense	probably benign	0.38
R0295:Ctc1	UTSW	11	69030588	missense	possibly damaging	0.75
R0320:Ctc1	UTSW	11	69033537	missense	probably damaging	1.00
R0496:Ctc1	UTSW	11	69035507	missense	probably damaging	1.00
R1497:Ctc1	UTSW	11	69022561	missense	probably benign	0.00
R1607:Ctc1	UTSW	11	69036150	missense	possibly damaging	0.82
R1623:Ctc1	UTSW	11	69021142	missense	probably damaging	0.99
R1856:Ctc1	UTSW	11	69034658	missense	probably damaging	1.00
R1876:Ctc1	UTSW	11	69031564	missense	probably benign	0.24
R1967:Ctc1	UTSW	11	69027862	critical splice acceptor site	probably null
R2348:Ctc1	UTSW	11	69026191	missense	probably benign	0.43
R2428:Ctc1	UTSW	11	69027701	missense	possibly damaging	0.51
R3964:Ctc1	UTSW	11	69031128	missense	probably damaging	1.00
R3965:Ctc1	UTSW	11	69031128	missense	probably damaging	1.00
R3966:Ctc1	UTSW	11	69031128	missense	probably damaging	1.00
R4398:Ctc1	UTSW	11	69022871	missense	probably damaging	1.00
R4508:Ctc1	UTSW	11	69016117	splice site	probably null
R4605:Ctc1	UTSW	11	69029726	missense	possibly damaging	0.86
R4976:Ctc1	UTSW	11	69027326	missense	probably damaging	1.00
R4979:Ctc1	UTSW	11	69033502	missense	probably damaging	1.00
R5268:Ctc1	UTSW	11	69029810	missense	possibly damaging	0.67
R6023:Ctc1	UTSW	11	69022607	missense	probably benign	0.00
R6053:Ctc1	UTSW	11	69027901	missense	probably benign	0.01
R7204:Ctc1	UTSW	11	69029741	missense	probably damaging	1.00
R7252:Ctc1	UTSW	11	69026174	missense	probably damaging	1.00
R7357:Ctc1	UTSW	11	69034742	missense	probably benign	0.17
R7654:Ctc1	UTSW	11	69026215	missense	probably damaging	1.00
R7724:Ctc1	UTSW	11	69026344	missense	probably benign	0.00
R7890:Ctc1	UTSW	11	69026529	missense	probably damaging	1.00
R7979:Ctc1	UTSW	11	69027383	nonsense	probably null
R8042:Ctc1	UTSW	11	69029843	intron	probably benign
R8167:Ctc1	UTSW	11	69027758	missense	probably damaging	1.00
R8179:Ctc1	UTSW	11	69024224	missense	probably benign	0.18
R8353:Ctc1	UTSW	11	69022449	missense	probably benign	0.03
R8453:Ctc1	UTSW	11	69022449	missense	probably benign	0.03
R8465:Ctc1	UTSW	11	69026219	missense	probably damaging	1.00
R8948:Ctc1	UTSW	11	69026349	nonsense	probably null
R9286:Ctc1	UTSW	11	69026354	critical splice donor site	probably null
R9495:Ctc1	UTSW	11	69022767	missense	probably damaging	1.00
R9585:Ctc1	UTSW	11	69034664	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTCTGATGTCTACAGTAGCATG -3'
(R):5'- CATGGGTTTTGCTTGCAGAC -3'

Sequencing Primer
(F):5'- GGGTACACCTGTAATCCAAGCATTG -3'
(R):5'- TTTGCTTGCAGACTAGAAAGGG -3'

Posted On

2014-10-01