Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02164:Ctc1'

282588

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ctc1

Ensembl Gene

ENSMUSG00000020898

Gene Name

CTS telomere maintenance complex component 1

Synonyms

1500010J02Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02164

Quality Score

Status

Chromosome

Chromosomal Location

68906737-68927299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68916922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 272 (H272R)

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: H272R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021278
Gene: ENSMUSG00000020898
AA Change: H272R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000116359
AA Change: H272R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112063
Gene: ENSMUSG00000020898
AA Change: H272R

Domain	Start	End	E-Value	Type
Pfam:CTC1	61	1196	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146621

Predicted Effect

probably benign
Transcript: ENSMUST00000152979

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161384

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161455
AA Change: H26R

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124702
Gene: ENSMUSG00000020898
AA Change: H26R

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

Coding Region Coverage

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	A	5: 48,537,524 (GRCm39)	V187E	probably benign	Het
Abcc12	T	A	8: 87,254,033 (GRCm39)	D917V	probably damaging	Het
Abhd15	A	T	11: 77,406,840 (GRCm39)	E272D	probably benign	Het
Adat3	T	A	10: 80,442,461 (GRCm39)	S100T	probably benign	Het
Adgrg6	T	C	10: 14,399,299 (GRCm39)		probably benign	Het
Alpl	C	T	4: 137,481,290 (GRCm39)	V121M	probably damaging	Het
Ano1	A	T	7: 144,190,918 (GRCm39)	Y388N	possibly damaging	Het
Arrdc4	C	T	7: 68,389,285 (GRCm39)		probably benign	Het
Asxl2	A	G	12: 3,552,079 (GRCm39)	M1274V	probably benign	Het
Bmt2	G	T	6: 13,628,878 (GRCm39)	N268K	possibly damaging	Het
Bpifb2	C	A	2: 153,725,482 (GRCm39)	L176M	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cd14	T	C	18: 36,858,838 (GRCm39)	R206G	possibly damaging	Het
Cfap65	G	T	1: 74,967,304 (GRCm39)	T215K	possibly damaging	Het
Chd9	T	C	8: 91,659,849 (GRCm39)	S270P	possibly damaging	Het
Cidea	C	T	18: 67,499,581 (GRCm39)	S156L	probably damaging	Het
Col5a3	A	G	9: 20,703,939 (GRCm39)		probably null	Het
Cspg5	T	C	9: 110,080,104 (GRCm39)	V424A	probably damaging	Het
D5Ertd579e	A	T	5: 36,772,303 (GRCm39)	S697R	probably damaging	Het
Dennd3	T	C	15: 73,416,297 (GRCm39)	S516P	probably benign	Het
Dipk2b	T	A	X: 18,285,192 (GRCm39)	R421*	probably null	Het
Dlgap4	G	A	2: 156,553,059 (GRCm39)	R509H	probably damaging	Het
Dus3l	T	C	17: 57,074,943 (GRCm39)		probably benign	Het
Dync1h1	G	T	12: 110,628,993 (GRCm39)	W4183C	probably damaging	Het
Eif2s3x	A	T	X: 93,248,678 (GRCm39)	M152K	possibly damaging	Het
Epb41l1	C	T	2: 156,336,869 (GRCm39)		probably benign	Het
Ephx2	A	G	14: 66,341,169 (GRCm39)		probably benign	Het
Fabp12	T	A	3: 10,311,075 (GRCm39)	Y129F	probably damaging	Het
Fat3	A	G	9: 15,942,720 (GRCm39)		probably benign	Het
Fat4	T	C	3: 39,050,354 (GRCm39)		probably null	Het
Gnb1	T	A	4: 155,641,631 (GRCm39)		probably null	Het
Gpr107	C	A	2: 31,068,298 (GRCm39)	Y253*	probably null	Het
Grb10	C	T	11: 11,893,962 (GRCm39)	E320K	probably damaging	Het
Gucy2g	G	T	19: 55,226,455 (GRCm39)	H154N	probably benign	Het
H2bl1	T	C	13: 99,120,715 (GRCm39)	K104E	probably damaging	Het
Hemk1	T	A	9: 107,208,735 (GRCm39)	H154L	probably benign	Het
Hk2	A	T	6: 82,720,920 (GRCm39)		probably null	Het
Htr5a	A	G	5: 28,047,463 (GRCm39)	N6S	probably damaging	Het
Htra3	T	C	5: 35,810,410 (GRCm39)	D424G	probably benign	Het
Ift52	A	G	2: 162,867,384 (GRCm39)		probably null	Het
Igdcc4	A	G	9: 65,032,064 (GRCm39)		probably benign	Het
Itpr1	A	G	6: 108,366,444 (GRCm39)	K124E	probably benign	Het
Kcnc2	T	A	10: 112,291,590 (GRCm39)	N259K	possibly damaging	Het
Kics2	A	G	10: 121,586,675 (GRCm39)	Y194C	probably damaging	Het
Lmod2	A	T	6: 24,603,909 (GRCm39)	I295F	possibly damaging	Het
Lrp1	T	C	10: 127,399,536 (GRCm39)	E2324G	probably benign	Het
Lss	T	C	10: 76,372,094 (GRCm39)	S150P	probably damaging	Het
Macf1	T	C	4: 123,374,065 (GRCm39)	N1515S	probably benign	Het
Mapk11	T	C	15: 89,029,651 (GRCm39)		probably null	Het
Mc3r	T	A	2: 172,091,314 (GRCm39)	F179I	probably damaging	Het
Mtmr9	T	A	14: 63,767,737 (GRCm39)	N291Y	probably damaging	Het
Myo1h	T	C	5: 114,472,157 (GRCm39)	F396L	probably damaging	Het
Nek2	A	G	1: 191,559,416 (GRCm39)	K307R	probably benign	Het
Or12d2	C	A	17: 37,624,578 (GRCm39)	M232I	probably benign	Het
Osmr	G	A	15: 6,871,529 (GRCm39)	T296I	probably damaging	Het
Pcdhb11	T	G	18: 37,556,412 (GRCm39)	S581A	probably benign	Het
Pfkp	C	T	13: 6,647,951 (GRCm39)	V542M	probably damaging	Het
Pmpca	C	T	2: 26,285,581 (GRCm39)	S519L	probably benign	Het
Ptgds	A	T	2: 25,359,124 (GRCm39)	Y44N	probably damaging	Het
Raly	T	A	2: 154,701,849 (GRCm39)	Y116*	probably null	Het
Rock2	A	G	12: 17,015,530 (GRCm39)	D809G	probably damaging	Het
Sgsm2	T	G	11: 74,756,242 (GRCm39)	N369T	possibly damaging	Het
Slc6a15	A	G	10: 103,254,083 (GRCm39)	D673G	probably benign	Het
Spire2	A	T	8: 124,059,703 (GRCm39)	D67V	probably damaging	Het
St7l	T	C	3: 104,829,597 (GRCm39)		probably null	Het
Stau2	A	G	1: 16,416,052 (GRCm39)	L469P	probably damaging	Het
Tefm	A	G	11: 80,030,915 (GRCm39)	L107S	probably damaging	Het
Ticam1	A	T	17: 56,577,019 (GRCm39)	V692D	unknown	Het
Tipin	T	A	9: 64,201,631 (GRCm39)	D143E	probably damaging	Het
Tmem132c	C	A	5: 127,613,441 (GRCm39)	T448K	probably damaging	Het
Trav8-1	A	T	14: 53,707,213 (GRCm39)	M1L	unknown	Het
Ttn	C	A	2: 76,569,141 (GRCm39)	V27251F	probably damaging	Het
Uvrag	A	T	7: 98,653,896 (GRCm39)	C31*	probably null	Het
Zap70	T	C	1: 36,810,267 (GRCm39)	Y126H	probably damaging	Het
Zfp644	A	G	5: 106,785,965 (GRCm39)	V194A	probably benign	Het
Zfp663	C	T	2: 165,200,968 (GRCm39)	W22*	probably null	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
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
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

Posted On

2015-04-16