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

1500010J02Rik

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

68906737-68927299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68925484 bp (GRCm39)

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
Aadacl4fm5	T	A	4: 144,504,453 (GRCm39)	M233L	probably benign	Het
Abca14	T	G	7: 119,877,404 (GRCm39)	F1017L	probably damaging	Het
Abcb11	A	C	2: 69,076,267 (GRCm39)	V1147G	probably damaging	Het
Abcc10	T	A	17: 46,617,529 (GRCm39)	S1128C	probably damaging	Het
Adam6a	G	A	12: 113,508,923 (GRCm39)	C432Y	probably damaging	Het
Adamdec1	C	T	14: 68,808,397 (GRCm39)	V318M	probably damaging	Het
Ahnak	C	A	19: 8,979,412 (GRCm39)	S232Y	possibly damaging	Het
Amt	A	C	9: 108,174,361 (GRCm39)	H42P	probably damaging	Het
Anapc1	A	T	2: 128,501,708 (GRCm39)	L778Q	probably damaging	Het
Ankhd1	G	A	18: 36,777,580 (GRCm39)	A1588T	probably benign	Het
Anln	A	T	9: 22,264,627 (GRCm39)	L881Q	probably damaging	Het
Appl1	A	G	14: 26,649,706 (GRCm39)	S607P	probably damaging	Het
Arg2	G	T	12: 79,194,436 (GRCm39)	V87L	probably benign	Het
Atp13a2	C	T	4: 140,731,323 (GRCm39)	P869L	probably benign	Het
Atxn7l1	T	A	12: 33,408,769 (GRCm39)	D310E	probably damaging	Het
Cd6	A	T	19: 10,775,966 (GRCm39)	D164E	probably damaging	Het
Cdan1	C	A	2: 120,555,417 (GRCm39)	V775L	probably benign	Het
Cep164	A	T	9: 45,687,056 (GRCm39)		probably null	Het
Cep41	A	G	6: 30,661,005 (GRCm39)	S61P	probably damaging	Het
Clcn7	C	A	17: 25,379,445 (GRCm39)	D764E	probably damaging	Het
Cog2	G	A	8: 125,278,142 (GRCm39)	G703S	possibly damaging	Het
Cramp1	T	C	17: 25,187,952 (GRCm39)	D1214G	probably damaging	Het
Cst7	G	T	2: 150,419,628 (GRCm39)	C98F	probably damaging	Het
Cyb5r4	G	A	9: 86,904,262 (GRCm39)	A11T	possibly damaging	Het
Dcaf8	A	G	1: 172,003,120 (GRCm39)	D306G	probably damaging	Het
Defb38	T	A	8: 19,073,592 (GRCm39)	K27I	probably benign	Het
Disp3	T	C	4: 148,356,089 (GRCm39)	E257G	probably damaging	Het
Dnajc6	T	C	4: 101,456,185 (GRCm39)	S58P	probably damaging	Het
Dock10	A	T	1: 80,584,285 (GRCm39)	D140E	possibly damaging	Het
Dop1a	T	C	9: 86,374,057 (GRCm39)	V172A	probably damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Eci3	C	T	13: 35,137,011 (GRCm39)	A171T	possibly damaging	Het
Eml2	A	G	7: 18,927,986 (GRCm39)	D284G	probably damaging	Het
Eml5	T	C	12: 98,776,843 (GRCm39)	D1377G	probably damaging	Het
Fam186a	T	C	15: 99,838,183 (GRCm39)	E2687G	possibly damaging	Het
Fut9	A	C	4: 25,620,352 (GRCm39)	L154R	probably damaging	Het
Gabrb2	A	G	11: 42,517,540 (GRCm39)	N454S	probably benign	Het
Gpr183	T	A	14: 122,192,153 (GRCm39)	I123L	probably benign	Het
Gucy1b1	A	T	3: 81,965,659 (GRCm39)	N62K	probably benign	Het
Hcrtr2	T	C	9: 76,167,067 (GRCm39)	N90S	probably damaging	Het
Hectd1	A	T	12: 51,791,577 (GRCm39)	L2556Q	probably damaging	Het
Hfm1	T	A	5: 106,995,542 (GRCm39)	M1290L	probably benign	Het
Hgsnat	A	G	8: 26,447,284 (GRCm39)	W337R	probably benign	Het
Hmbox1	T	C	14: 65,066,097 (GRCm39)	Y291C	probably damaging	Het
Hmcn1	T	C	1: 150,597,415 (GRCm39)	N1749S	probably benign	Het
Igsf10	T	C	3: 59,238,693 (GRCm39)	D496G	possibly damaging	Het
Iqch	C	T	9: 63,441,619 (GRCm39)		probably null	Het
Irf6	A	G	1: 192,849,843 (GRCm39)	D255G	probably benign	Het
Kif9	G	A	9: 110,346,787 (GRCm39)	G642R	probably null	Het
Klhl20	A	G	1: 160,934,312 (GRCm39)	Y236H	probably benign	Het
Krt39	T	A	11: 99,409,914 (GRCm39)	K208*	probably null	Het
Lama3	T	A	18: 12,670,838 (GRCm39)	L808*	probably null	Het
Lrp5	C	T	19: 3,647,346 (GRCm39)	A1299T	probably benign	Het
Lysmd4	A	G	7: 66,875,979 (GRCm39)	Q214R	probably benign	Het
Macf1	T	A	4: 123,263,641 (GRCm39)	E6960V	probably damaging	Het
Mcpt2	A	G	14: 56,281,156 (GRCm39)	E120G	probably benign	Het
Mpeg1	A	G	19: 12,439,720 (GRCm39)	T393A	probably benign	Het
Myh4	G	A	11: 67,146,508 (GRCm39)	E1494K	probably damaging	Het
Nbas	T	G	12: 13,524,230 (GRCm39)	S1695R	possibly damaging	Het
Nlgn1	G	T	3: 25,494,201 (GRCm39)	Y249*	probably null	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Nup107	A	G	10: 117,586,811 (GRCm39)	L910P	probably damaging	Het
Obscn	T	A	11: 58,931,122 (GRCm39)	D5838V	probably damaging	Het
Or10g7	T	C	9: 39,905,655 (GRCm39)	I183T	probably benign	Het
Or1j18	T	C	2: 36,624,357 (GRCm39)	I8T	probably benign	Het
Or4c113	G	A	2: 88,885,203 (GRCm39)	T189M	possibly damaging	Het
Or8d2b	T	C	9: 38,788,892 (GRCm39)	I140T	possibly damaging	Het
Otogl	G	T	10: 107,690,125 (GRCm39)	S915Y	possibly damaging	Het
P2rx7	T	A	5: 122,819,095 (GRCm39)	C506S	probably damaging	Het
P4hb	T	C	11: 120,454,044 (GRCm39)	E350G	probably benign	Het
Papolg	A	T	11: 23,817,379 (GRCm39)	V606E	probably benign	Het
Pappa	A	T	4: 65,258,980 (GRCm39)	D1576V	probably damaging	Het
Pclo	G	T	5: 14,828,566 (GRCm39)	V1402F	probably damaging	Het
Pdcd11	A	G	19: 47,086,626 (GRCm39)	T211A	probably benign	Het
Pdzd2	T	C	15: 12,373,941 (GRCm39)	R2065G	possibly damaging	Het
Plcl2	T	C	17: 50,914,878 (GRCm39)	V629A	probably benign	Het
Prkcsh	G	A	9: 21,915,871 (GRCm39)	V92I	possibly damaging	Het
Prpf19	G	T	19: 10,879,780 (GRCm39)	V320F	probably damaging	Het
Ptpn3	T	A	4: 57,239,682 (GRCm39)	I283F	probably damaging	Het
Rcc2	T	A	4: 140,447,915 (GRCm39)	D480E	probably benign	Het
Rnf182	G	A	13: 43,821,518 (GRCm39)	C23Y	probably damaging	Het
Rnf186	C	T	4: 138,694,673 (GRCm39)	T71I	probably benign	Het
Scyl3	A	G	1: 163,761,265 (GRCm39)		probably null	Het
Slc12a6	G	T	2: 112,166,272 (GRCm39)		probably null	Het
Slc1a2	C	A	2: 102,607,912 (GRCm39)	S520Y	probably damaging	Het
Slc35e2	T	A	4: 155,696,186 (GRCm39)	L191Q	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Snx33	T	C	9: 56,833,295 (GRCm39)	H258R	possibly damaging	Het
Tecpr2	A	T	12: 110,899,498 (GRCm39)	H622L	probably benign	Het
Thbs3	A	T	3: 89,133,713 (GRCm39)	E888D	probably damaging	Het
Tlk2	T	C	11: 105,112,124 (GRCm39)	L159P	probably benign	Het
Tmem70	A	T	1: 16,747,497 (GRCm39)	T205S	probably damaging	Het
Trappc10	T	A	10: 78,032,285 (GRCm39)	H1001L	probably benign	Het
Trim12a	T	C	7: 103,950,064 (GRCm39)	T292A	probably benign	Het
Trip11	G	A	12: 101,849,592 (GRCm39)	R92*	probably null	Het
Trpa1	G	A	1: 14,969,612 (GRCm39)	Q386*	probably null	Het
Trpc4	T	A	3: 54,187,410 (GRCm39)	V454D	probably damaging	Het
Ttc36	A	T	9: 44,714,051 (GRCm39)	D22E	probably benign	Het
Ttk	A	T	9: 83,751,316 (GRCm39)	I798F	probably damaging	Het
Ttn	T	C	2: 76,573,977 (GRCm39)	I17312V	probably damaging	Het
Txndc15	A	T	13: 55,865,875 (GRCm39)	E113V	possibly damaging	Het
Ube2d4	T	A	15: 58,718,448 (GRCm39)		noncoding transcript	Het
Urb1	T	A	16: 90,558,583 (GRCm39)	T1723S	probably benign	Het
Vmn1r65	A	T	7: 6,011,265 (GRCm39)	V323D	possibly damaging	Het
Vmn2r54	A	G	7: 12,366,238 (GRCm39)	M232T	probably benign	Het
Wdr59	A	G	8: 112,202,813 (GRCm39)	S577P	probably damaging	Het
Wfikkn2	C	T	11: 94,128,949 (GRCm39)	W397*	probably null	Het
Ypel1	T	A	16: 16,899,511 (GRCm39)		probably null	Het
Ythdf1	T	A	2: 180,552,763 (GRCm39)	D484V	probably damaging	Het
Zdhhc17	A	G	10: 110,783,154 (GRCm39)		probably null	Het
Zfp472	A	T	17: 33,184,887 (GRCm39)	H2L	possibly damaging	Het
Zfp953	A	T	13: 67,493,422 (GRCm39)	M74K	probably benign	Het
Zmat4	C	T	8: 24,419,151 (GRCm39)	T61M	probably benign	Het

Other mutations in Ctc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AGGCCAGCGAGATTAACCTTG -3'
(R):5'- AATGACAGCACAGCACTCTG -3'

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

Posted On

2014-06-23