Mutagenetix > Incidental Mutation

Incidental Mutation 'R1856:Ctc1'

206149

Institutional Source

Beutler Lab

Gene Symbol

Ctc1

Ensembl Gene

ENSMUSG00000020898

Gene Name

CTS telomere maintenance complex component 1

Synonyms

MMRRC Submission

039880-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69015911-69036473 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69034658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1007 (L1007Q)

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: L1006Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021278
Gene: ENSMUSG00000020898
AA Change: L1006Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000116359
AA Change: L1007Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112063
Gene: ENSMUSG00000020898
AA Change: L1007Q

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

probably damaging
Transcript: ENSMUST00000161455
AA Change: L760Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124702
Gene: ENSMUSG00000020898
AA Change: L760Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162256

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	G	7: 120,278,181	F1017L	probably damaging	Het
Abcb11	A	C	2: 69,245,923	V1147G	probably damaging	Het
Abcc10	T	A	17: 46,306,603	S1128C	probably damaging	Het
Adam6a	G	A	12: 113,545,303	C432Y	probably damaging	Het
Adamdec1	C	T	14: 68,570,948	V318M	probably damaging	Het
Ahnak	C	A	19: 9,002,048	S232Y	possibly damaging	Het
Amt	A	C	9: 108,297,162	H42P	probably damaging	Het
Anapc1	A	T	2: 128,659,788	L778Q	probably damaging	Het
Ankhd1	G	A	18: 36,644,527	A1588T	probably benign	Het
Anln	A	T	9: 22,353,331	L881Q	probably damaging	Het
Appl1	A	G	14: 26,927,749	S607P	probably damaging	Het
Arg2	G	T	12: 79,147,662	V87L	probably benign	Het
Atp13a2	C	T	4: 141,004,012	P869L	probably benign	Het
Atxn7l1	T	A	12: 33,358,770	D310E	probably damaging	Het
Cd6	A	T	19: 10,798,602	D164E	probably damaging	Het
Cdan1	C	A	2: 120,724,936	V775L	probably benign	Het
Cep164	A	T	9: 45,775,758		probably null	Het
Cep41	A	G	6: 30,661,006	S61P	probably damaging	Het
Clcn7	C	A	17: 25,160,471	D764E	probably damaging	Het
Cog2	G	A	8: 124,551,403	G703S	possibly damaging	Het
Cramp1l	T	C	17: 24,968,978	D1214G	probably damaging	Het
Cst7	G	T	2: 150,577,708	C98F	probably damaging	Het
Cyb5r4	G	A	9: 87,022,209	A11T	possibly damaging	Het
Dcaf8	A	G	1: 172,175,553	D306G	probably damaging	Het
Defb38	T	A	8: 19,023,576	K27I	probably benign	Het
Disp3	T	C	4: 148,271,632	E257G	probably damaging	Het
Dnajc6	T	C	4: 101,598,988	S58P	probably damaging	Het
Dock10	A	T	1: 80,606,568	D140E	possibly damaging	Het
Dopey1	T	C	9: 86,492,004	V172A	probably damaging	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Eci3	C	T	13: 34,953,028	A171T	possibly damaging	Het
Eml2	A	G	7: 19,194,061	D284G	probably damaging	Het
Eml5	T	C	12: 98,810,584	D1377G	probably damaging	Het
Fam186a	T	C	15: 99,940,302	E2687G	possibly damaging	Het
Fut9	A	C	4: 25,620,352	L154R	probably damaging	Het
Gabrb2	A	G	11: 42,626,713	N454S	probably benign	Het
Gm438	T	A	4: 144,777,883	M233L	probably benign	Het
Gpr183	T	A	14: 121,954,741	I123L	probably benign	Het
Gucy1b1	A	T	3: 82,058,352	N62K	probably benign	Het
Hcrtr2	T	C	9: 76,259,785	N90S	probably damaging	Het
Hectd1	A	T	12: 51,744,794	L2556Q	probably damaging	Het
Hfm1	T	A	5: 106,847,676	M1290L	probably benign	Het
Hgsnat	A	G	8: 25,957,256	W337R	probably benign	Het
Hmbox1	T	C	14: 64,828,648	Y291C	probably damaging	Het
Hmcn1	T	C	1: 150,721,664	N1749S	probably benign	Het
Igsf10	T	C	3: 59,331,272	D496G	possibly damaging	Het
Iqch	C	T	9: 63,534,337		probably null	Het
Irf6	A	G	1: 193,167,535	D255G	probably benign	Het
Kif9	G	A	9: 110,517,719	G642R	probably null	Het
Klhl20	A	G	1: 161,106,742	Y236H	probably benign	Het
Krt39	T	A	11: 99,519,088	K208*	probably null	Het
Lama3	T	A	18: 12,537,781	L808*	probably null	Het
Lrp5	C	T	19: 3,597,346	A1299T	probably benign	Het
Lysmd4	A	G	7: 67,226,231	Q214R	probably benign	Het
Macf1	T	A	4: 123,369,848	E6960V	probably damaging	Het
Mcpt2	A	G	14: 56,043,699	E120G	probably benign	Het
Mpeg1	A	G	19: 12,462,356	T393A	probably benign	Het
Myh4	G	A	11: 67,255,682	E1494K	probably damaging	Het
Nbas	T	G	12: 13,474,229	S1695R	possibly damaging	Het
Nlgn1	G	T	3: 25,440,037	Y249*	probably null	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Nup107	A	G	10: 117,750,906	L910P	probably damaging	Het
Obscn	T	A	11: 59,040,296	D5838V	probably damaging	Het
Olfr1218	G	A	2: 89,054,859	T189M	possibly damaging	Het
Olfr347	T	C	2: 36,734,345	I8T	probably benign	Het
Olfr926	T	C	9: 38,877,596	I140T	possibly damaging	Het
Olfr978	T	C	9: 39,994,359	I183T	probably benign	Het
Otogl	G	T	10: 107,854,264	S915Y	possibly damaging	Het
P2rx7	T	A	5: 122,681,032	C506S	probably damaging	Het
P4hb	T	C	11: 120,563,218	E350G	probably benign	Het
Papolg	A	T	11: 23,867,379	V606E	probably benign	Het
Pappa	A	T	4: 65,340,743	D1576V	probably damaging	Het
Pclo	G	T	5: 14,778,552	V1402F	probably damaging	Het
Pdcd11	A	G	19: 47,098,187	T211A	probably benign	Het
Pdzd2	T	C	15: 12,373,855	R2065G	possibly damaging	Het
Plcl2	T	C	17: 50,607,850	V629A	probably benign	Het
Prkcsh	G	A	9: 22,004,575	V92I	possibly damaging	Het
Prpf19	G	T	19: 10,902,416	V320F	probably damaging	Het
Ptpn3	T	A	4: 57,239,682	I283F	probably damaging	Het
Rcc2	T	A	4: 140,720,604	D480E	probably benign	Het
Rnf182	G	A	13: 43,668,042	C23Y	probably damaging	Het
Rnf186	C	T	4: 138,967,362	T71I	probably benign	Het
Scyl3	A	G	1: 163,933,696		probably null	Het
Slc12a6	G	T	2: 112,335,927		probably null	Het
Slc1a2	C	A	2: 102,777,567	S520Y	probably damaging	Het
Slc35e2	T	A	4: 155,611,729	L191Q	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Snx33	T	C	9: 56,926,011	H258R	possibly damaging	Het
Tecpr2	A	T	12: 110,933,064	H622L	probably benign	Het
Thbs3	A	T	3: 89,226,406	E888D	probably damaging	Het
Tlk2	T	C	11: 105,221,298	L159P	probably benign	Het
Tmem70	A	T	1: 16,677,273	T205S	probably damaging	Het
Trappc10	T	A	10: 78,196,451	H1001L	probably benign	Het
Trim12a	T	C	7: 104,300,857	T292A	probably benign	Het
Trip11	G	A	12: 101,883,333	R92*	probably null	Het
Trpa1	G	A	1: 14,899,388	Q386*	probably null	Het
Trpc4	T	A	3: 54,279,989	V454D	probably damaging	Het
Ttc36	A	T	9: 44,802,754	D22E	probably benign	Het
Ttk	A	T	9: 83,869,263	I798F	probably damaging	Het
Ttn	T	C	2: 76,743,633	I17312V	probably damaging	Het
Txndc15	A	T	13: 55,718,062	E113V	possibly damaging	Het
Ube2d4	T	A	15: 58,846,599		noncoding transcript	Het
Urb1	T	A	16: 90,761,695	T1723S	probably benign	Het
Vmn1r65	A	T	7: 6,008,266	V323D	possibly damaging	Het
Vmn2r54	A	G	7: 12,632,311	M232T	probably benign	Het
Wdr59	A	G	8: 111,476,181	S577P	probably damaging	Het
Wfikkn2	C	T	11: 94,238,123	W397*	probably null	Het
Ypel1	T	A	16: 17,081,647		probably null	Het
Ythdf1	T	A	2: 180,910,970	D484V	probably damaging	Het
Zdhhc17	A	G	10: 110,947,293		probably null	Het
Zfp472	A	T	17: 32,965,913	H2L	possibly damaging	Het
Zfp953	A	T	13: 67,345,358	M74K	probably benign	Het
Zmat4	C	T	8: 23,929,135	T61M	probably benign	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
R1876:Ctc1	UTSW	11	69031564	missense	probably benign	0.24
R1967:Ctc1	UTSW	11	69027862	critical splice acceptor site	probably null
R2164:Ctc1	UTSW	11	69035615	missense	possibly damaging	0.92
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'- AGGCCAGCGAGATTAACCTTG -3'
(R):5'- AATGACAGCACAGCACTCTG -3'

Sequencing Primer
(F):5'- GCGAGATTAACCTTGCTTTCAG -3'
(R):5'- GCACAGCACTCTGGCACTAC -3'

Posted On

2014-06-23