Mutagenetix > Incidental Mutation

Incidental Mutation 'R7654:Ctc1'

591084

Institutional Source

Beutler Lab

Gene Symbol

Ctc1

Ensembl Gene

ENSMUSG00000020898

Gene Name

CTS telomere maintenance complex component 1

Synonyms

1500010J02Rik

MMRRC Submission

045702-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7654 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68906737-68927299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 68917041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 312 (P312S)

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: P312S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021278
Gene: ENSMUSG00000020898
AA Change: P312S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000116359
AA Change: P312S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112063
Gene: ENSMUSG00000020898
AA Change: P312S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152979

Predicted Effect

probably damaging
Transcript: ENSMUST00000161455
AA Change: P66S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124702
Gene: ENSMUSG00000020898
AA Change: P66S

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

Meta Mutation Damage Score

0.1151

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (76/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,815,032 (GRCm39)	V1140M	possibly damaging	Het
Adamtsl3	A	C	7: 82,223,702 (GRCm39)	E1161A	probably benign	Het
Adcy5	T	C	16: 35,091,317 (GRCm39)	S587P	probably damaging	Het
Aebp2	T	A	6: 140,599,474 (GRCm39)		probably null	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Ankhd1	T	C	18: 36,727,154 (GRCm39)	V423A	probably damaging	Het
Arid1b	T	A	17: 5,341,360 (GRCm39)	M888K	possibly damaging	Het
Asl	C	A	5: 130,047,231 (GRCm39)	R122S	probably damaging	Het
B3gntl1	T	A	11: 121,542,439 (GRCm39)	D109V	probably damaging	Het
Cat	G	A	2: 103,290,709 (GRCm39)	P402S	probably damaging	Het
Ccdc141	A	T	2: 76,872,822 (GRCm39)	Y787N	probably benign	Het
Ccdc78	T	C	17: 26,009,085 (GRCm39)	Y405H	probably damaging	Het
Ces1f	T	G	8: 93,998,562 (GRCm39)	K145Q	probably benign	Het
Cfap65	A	T	1: 74,972,303 (GRCm39)	C19S	probably benign	Het
CN725425	T	A	15: 91,123,638 (GRCm39)	I118N	probably benign	Het
Ctsa	C	T	2: 164,680,853 (GRCm39)	T442I	probably benign	Het
Cyp2b9	A	G	7: 25,886,367 (GRCm39)	T131A	possibly damaging	Het
D630045J12Rik	A	G	6: 38,154,636 (GRCm39)	M1181T	probably damaging	Het
Dagla	C	G	19: 10,225,570 (GRCm39)	G865R	probably benign	Het
Dst	A	C	1: 34,268,058 (GRCm39)	K3153Q	probably damaging	Het
Dst	A	T	1: 34,268,059 (GRCm39)	K3153M	probably damaging	Het
Dync2h1	A	T	9: 7,122,664 (GRCm39)	H2097Q	probably damaging	Het
Etnppl	A	G	3: 130,423,160 (GRCm39)	I286M	probably benign	Het
Flvcr1	A	T	1: 190,743,802 (GRCm39)	M418K	possibly damaging	Het
Fuca1	T	C	4: 135,657,232 (GRCm39)	S215P	probably damaging	Het
Gabrg1	T	C	5: 70,935,504 (GRCm39)	K222E	probably benign	Het
Gdpd5	G	A	7: 99,073,396 (GRCm39)	R26H	probably damaging	Het
Gnptab	T	A	10: 88,281,681 (GRCm39)	S1229R	possibly damaging	Het
Gpt	A	G	15: 76,582,530 (GRCm39)	E256G	probably benign	Het
Hif3a	C	T	7: 16,783,021 (GRCm39)	V261I	probably damaging	Het
Hmcn2	A	G	2: 31,236,581 (GRCm39)	T375A	probably benign	Het
Hspa4	C	A	11: 53,190,951 (GRCm39)	V15F	probably damaging	Het
Il18	A	G	9: 50,490,701 (GRCm39)	N112S	possibly damaging	Het
Inpp4a	A	G	1: 37,413,179 (GRCm39)		probably null	Het
Knop1	A	G	7: 118,445,032 (GRCm39)	S525P	unknown	Het
Leo1	A	T	9: 75,362,961 (GRCm39)	Y461F	possibly damaging	Het
Med1	C	T	11: 98,060,189 (GRCm39)	V247I	possibly damaging	Het
Mpnd	T	G	17: 56,317,489 (GRCm39)	H159Q	probably benign	Het
Msl1	A	G	11: 98,686,937 (GRCm39)	E94G	possibly damaging	Het
Mthfd2l	A	T	5: 91,094,665 (GRCm39)	I45F	probably damaging	Het
Neurl1b	T	A	17: 26,657,671 (GRCm39)	L203Q	probably benign	Het
Or5m12	G	T	2: 85,734,663 (GRCm39)	T245N	possibly damaging	Het
Otoa	T	G	7: 120,746,923 (GRCm39)	L896R	probably damaging	Het
Pcdhac2	T	A	18: 37,278,076 (GRCm39)	V352E	probably damaging	Het
Pcsk5	T	A	19: 17,434,168 (GRCm39)	K1400I	possibly damaging	Het
Pcx	T	A	19: 4,565,697 (GRCm39)		probably null	Het
Pds5a	A	G	5: 65,776,324 (GRCm39)	V90A	probably damaging	Het
Pgam2	T	C	11: 5,753,351 (GRCm39)	K113R	probably null	Het
Phkb	G	T	8: 86,667,516 (GRCm39)	R266L	possibly damaging	Het
Phtf2	A	G	5: 20,987,459 (GRCm39)	S346P	probably damaging	Het
Pkd1l3	G	A	8: 110,365,049 (GRCm39)	A1144T	probably damaging	Het
Plbd1	T	C	6: 136,628,864 (GRCm39)	Y68C	possibly damaging	Het
Polk	T	C	13: 96,633,321 (GRCm39)	T241A	probably benign	Het
Ppfibp2	T	A	7: 107,337,818 (GRCm39)	D635E	probably damaging	Het
Ppip5k1	G	A	2: 121,179,040 (GRCm39)	R229W	probably damaging	Het
Ptpn20	A	G	14: 33,360,281 (GRCm39)	D386G	probably benign	Het
Rab22a	T	C	2: 173,529,968 (GRCm39)	Y49H	probably benign	Het
Rab3gap1	A	G	1: 127,837,652 (GRCm39)	D238G	probably damaging	Het
Rbp3	T	C	14: 33,677,797 (GRCm39)	S582P	probably benign	Het
Rcbtb2	T	C	14: 73,411,941 (GRCm39)	V410A	probably benign	Het
Sh3rf2	A	G	18: 42,237,173 (GRCm39)	E232G	probably damaging	Het
Shroom1	T	A	11: 53,357,735 (GRCm39)	V762E	probably benign	Het
Speer4f2	A	T	5: 17,579,413 (GRCm39)	M71L		Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Tgfb1	A	T	7: 25,387,120 (GRCm39)		probably benign	Het
Tnik	C	T	3: 28,658,334 (GRCm39)	R540C	probably damaging	Het
Tti1	A	T	2: 157,850,474 (GRCm39)	I255N	probably benign	Het
Ttn	T	C	2: 76,727,490 (GRCm39)	S5739G	unknown	Het
Umad1	G	A	6: 8,426,995 (GRCm39)	V57M	probably damaging	Het
Usp30	T	A	5: 114,240,506 (GRCm39)	I49N	probably damaging	Het
Usp7	G	A	16: 8,519,907 (GRCm39)	T398I	probably benign	Het
Vmn2r65	A	G	7: 84,590,261 (GRCm39)	Y552H	probably damaging	Het
Zfp616	A	G	11: 73,974,013 (GRCm39)	N185S	possibly damaging	Het
Zfp804b	T	A	5: 6,819,458 (GRCm39)	T1202S	probably damaging	Het
Zfyve28	A	T	5: 34,400,539 (GRCm39)	V53D	probably damaging	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
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
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'- GGCAGCATTATGGTTAAGGGC -3'
(R):5'- CCTTAGGAGGCTCACATTGCAG -3'

Sequencing Primer
(F):5'- GGGGTCTCATGTTTAATGTTACCTCC -3'
(R):5'- TTGCAGGTGTCACAACCTCTAAG -3'

Posted On

2019-11-12