Mutagenetix > Incidental Mutation

Incidental Mutation 'R7204:Ctc1'

560463

Institutional Source

Beutler Lab

Gene Symbol

Ctc1

Ensembl Gene

ENSMUSG00000020898

Gene Name

CTS telomere maintenance complex component 1

Synonyms

1500010J02Rik

MMRRC Submission

045282-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7204 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68906737-68927299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68920567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 623 (D623G)

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: D623G

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

SMART Domains

Protein: ENSMUSP00000021278
Gene: ENSMUSG00000020898
AA Change: D623G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000116359
AA Change: D623G

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

SMART Domains

Protein: ENSMUSP00000112063
Gene: ENSMUSG00000020898
AA Change: D623G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152979

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161455
AA Change: D377G

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

SMART Domains

Protein: ENSMUSP00000124702
Gene: ENSMUSG00000020898
AA Change: D377G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (75/76)

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
1700067K01Rik	T	C	8: 84,730,636 (GRCm39)	S227P	probably damaging	Het
Acot6	A	G	12: 84,153,301 (GRCm39)	H181R	probably benign	Het
Adam15	A	T	3: 89,254,244 (GRCm39)	H184Q	probably benign	Het
Agl	A	G	3: 116,587,469 (GRCm39)	F29L	probably benign	Het
Ak7	A	G	12: 105,708,502 (GRCm39)	Y319C	probably benign	Het
Ano8	C	A	8: 71,931,669 (GRCm39)	V813L	probably benign	Het
Apbb2	T	G	5: 66,608,946 (GRCm39)	K234Q	probably damaging	Het
Arfgef3	A	T	10: 18,522,210 (GRCm39)	D605E	probably damaging	Het
Bfsp2	C	A	9: 103,309,865 (GRCm39)	R340L	probably damaging	Het
Birc6	C	A	17: 74,947,103 (GRCm39)	P2956T	probably damaging	Het
C1rb	T	C	6: 124,554,386 (GRCm39)	I389T	probably benign	Het
Ccdc146	A	G	5: 21,513,624 (GRCm39)	F498S	probably benign	Het
Cdc14b	A	C	13: 64,358,012 (GRCm39)	V361G	possibly damaging	Het
Cdc25b	A	T	2: 131,033,552 (GRCm39)	I164F	probably damaging	Het
Col18a1	A	G	10: 76,921,110 (GRCm39)	S297P	unknown	Het
Col3a1	A	T	1: 45,361,578 (GRCm39)	I117F	unknown	Het
Cox4i2	AG	A	2: 152,602,618 (GRCm39)		probably null	Het
Crybg3	C	A	16: 59,379,253 (GRCm39)	G667V	probably benign	Het
Dennd1a	A	T	2: 37,929,215 (GRCm39)	H152Q	probably damaging	Het
Dgke	G	A	11: 88,932,306 (GRCm39)	P495S	probably damaging	Het
Dll3	A	T	7: 27,998,330 (GRCm39)	C212S	possibly damaging	Het
Dll4	A	T	2: 119,159,054 (GRCm39)	S235C	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah12	A	T	14: 26,503,442 (GRCm39)	T1599S	probably damaging	Het
Elavl1	G	A	8: 4,361,712 (GRCm39)	T20M	probably damaging	Het
Epha3	T	C	16: 63,472,695 (GRCm39)	T397A	probably benign	Het
Fanca	A	T	8: 124,013,216 (GRCm39)	I859N	probably damaging	Het
Fzd1	A	T	5: 4,805,980 (GRCm39)	V534D	probably damaging	Het
Glmp	A	G	3: 88,233,917 (GRCm39)	Y258C	probably damaging	Het
Gm9195	G	A	14: 72,711,626 (GRCm39)	P329S	probably damaging	Het
Gpt	A	G	15: 76,583,199 (GRCm39)	R379G	probably benign	Het
Gsdmc2	T	C	15: 63,696,903 (GRCm39)	T423A	probably damaging	Het
Hemgn	T	C	4: 46,397,054 (GRCm39)	K61E	possibly damaging	Het
Ikzf4	A	T	10: 128,479,759 (GRCm39)	S56T	possibly damaging	Het
Jak1	T	C	4: 101,032,332 (GRCm39)	T425A	probably benign	Het
Jsrp1	T	C	10: 80,646,319 (GRCm39)	T80A	probably benign	Het
Klra9	T	A	6: 130,165,643 (GRCm39)	D124V	possibly damaging	Het
Lama5	A	T	2: 179,843,970 (GRCm39)	V397D	probably damaging	Het
Lrp2	A	G	2: 69,302,877 (GRCm39)	S2951P	probably benign	Het
Map7d1	A	G	4: 126,149,808 (GRCm39)		probably null	Het
Mcm6	A	T	1: 128,265,864 (GRCm39)	C636S	probably damaging	Het
Mia	T	C	7: 26,880,358 (GRCm39)	E39G	possibly damaging	Het
Mpeg1	T	A	19: 12,440,258 (GRCm39)	I572N	probably damaging	Het
Muc21	AGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCAGTGCTGGATACAGTGGTGGTC	AGCTGGATACAGTGGTGGTC	17: 35,932,105 (GRCm39)		probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Mup5	A	G	4: 61,751,992 (GRCm39)	Y86H	probably damaging	Het
Nckap5	A	T	1: 125,954,104 (GRCm39)	V816D	probably benign	Het
Nfib	T	C	4: 82,215,052 (GRCm39)		probably null	Het
Nlrc5	T	A	8: 95,218,153 (GRCm39)	V1056D	possibly damaging	Het
Nynrin	G	C	14: 56,110,190 (GRCm39)	E1766Q	probably damaging	Het
Or7d9	A	T	9: 20,197,100 (GRCm39)	Y43F	probably benign	Het
Oxct1	T	A	15: 4,123,524 (GRCm39)	L328Q	probably damaging	Het
Pax5	T	A	4: 44,679,485 (GRCm39)	I187F	possibly damaging	Het
Pcdhb4	A	T	18: 37,442,292 (GRCm39)	D534V	probably damaging	Het
Pebp4	C	T	14: 70,085,046 (GRCm39)	P35S	probably benign	Het
Pkhd1l1	T	A	15: 44,386,949 (GRCm39)	V1274E	possibly damaging	Het
Plcz1	A	T	6: 139,956,150 (GRCm39)	V373D	probably benign	Het
Plxnb1	C	T	9: 108,929,243 (GRCm39)	T33I	probably damaging	Het
Prag1	T	C	8: 36,613,915 (GRCm39)	C1156R	probably benign	Het
Ptprc	T	A	1: 138,045,600 (GRCm39)	I87F	probably benign	Het
Rbp4	G	A	19: 38,112,551 (GRCm39)	T138I	possibly damaging	Het
Semp2l2b	A	G	10: 21,943,785 (GRCm39)	L65P	probably damaging	Het
Slc12a1	A	T	2: 125,042,542 (GRCm39)	N733Y	possibly damaging	Het
Slc27a3	A	G	3: 90,297,033 (GRCm39)	V22A	probably benign	Het
Tcaf1	T	C	6: 42,651,973 (GRCm39)		probably null	Het
Tnc	T	C	4: 63,889,392 (GRCm39)		probably null	Het
Tspan31	A	T	10: 126,903,987 (GRCm39)	*211R	probably null	Het
Ttc17	A	T	2: 94,192,773 (GRCm39)	V86D	possibly damaging	Het
Ubr1	T	A	2: 120,734,558 (GRCm39)	N1114I	possibly damaging	Het
Ulk2	C	T	11: 61,674,457 (GRCm39)	G850R	probably benign	Het
Vmn1r13	T	A	6: 57,187,141 (GRCm39)	I100N	probably benign	Het
Zan	T	C	5: 137,426,240 (GRCm39)	D2512G	unknown	Het
Zc3h14	A	T	12: 98,737,615 (GRCm39)	N34I	probably damaging	Het
Zcwpw1	T	G	5: 137,810,346 (GRCm39)	L374R	probably damaging	Het
Zfp747l1	A	T	7: 126,983,518 (GRCm39)	I528K	possibly 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
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'- TACACGTGTGAGTGCTTGC -3'
(R):5'- TCATTAAGGAAGCCCAGCAG -3'

Sequencing Primer
(F):5'- CTAGCTGGCCTGGAACTCATAATG -3'
(R):5'- AGGCGCTCCCTCTCTCAC -3'

Posted On

2019-06-26