Incidental Mutation 'R3965:Ctc1'
| ID |
312317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctc1
|
| Ensembl Gene |
ENSMUSG00000020898 |
| Gene Name |
CTS telomere maintenance complex component 1 |
| Synonyms |
1500010J02Rik |
| MMRRC Submission |
040934-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3965 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
68906737-68927299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 68921954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 800
(V800D)
|
| 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: V800D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021278
Gene: ENSMUSG00000020898
AA Change: V800D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTC1
|
60 |
1195 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116359
AA Change: V800D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112063
Gene: ENSMUSG00000020898
AA Change: V800D
| 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 |
possibly damaging
Transcript: ENSMUST00000161455
AA Change: V554D
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124702
Gene: ENSMUSG00000020898
AA Change: V554D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTC1
|
1 |
949 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162256
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161384
|
| Meta Mutation Damage Score |
0.4374 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (49/49) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C1galt1c1 |
A |
T |
X: 37,720,453 (GRCm39) |
V181E |
probably benign |
Het |
| Ccdc121 |
T |
A |
5: 31,645,335 (GRCm39) |
C363S |
probably benign |
Het |
| Cep70 |
T |
A |
9: 99,180,587 (GRCm39) |
F581I |
probably damaging |
Het |
| Cfap74 |
T |
A |
4: 155,531,174 (GRCm39) |
M809K |
probably damaging |
Het |
| Clic6 |
T |
C |
16: 92,295,732 (GRCm39) |
S131P |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dlec1 |
A |
G |
9: 118,957,649 (GRCm39) |
I878V |
probably benign |
Het |
| Elapor1 |
T |
C |
3: 108,365,765 (GRCm39) |
D998G |
probably damaging |
Het |
| Esyt3 |
T |
A |
9: 99,202,375 (GRCm39) |
D512V |
probably damaging |
Het |
| Ewsr1 |
T |
C |
11: 5,033,476 (GRCm39) |
Y232C |
unknown |
Het |
| Exoc2 |
G |
A |
13: 31,061,565 (GRCm39) |
S492L |
probably benign |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Grin2c |
G |
A |
11: 115,151,820 (GRCm39) |
R47W |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,895,557 (GRCm39) |
T1670A |
probably benign |
Het |
| Med31 |
C |
T |
11: 72,102,755 (GRCm39) |
A118T |
probably benign |
Het |
| Mia2 |
T |
A |
12: 59,223,158 (GRCm39) |
S489T |
probably damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,896,366 (GRCm39) |
I737V |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,286,233 (GRCm39) |
R120H |
probably benign |
Het |
| Nckap1l |
T |
A |
15: 103,373,016 (GRCm39) |
C276* |
probably null |
Het |
| Nrap |
T |
C |
19: 56,330,576 (GRCm39) |
S1126G |
probably damaging |
Het |
| Oas1c |
A |
G |
5: 120,946,783 (GRCm39) |
F16L |
probably damaging |
Het |
| Or10g9 |
A |
T |
9: 39,911,767 (GRCm39) |
V252E |
possibly damaging |
Het |
| Or1ab2 |
G |
A |
8: 72,864,108 (GRCm39) |
G233R |
probably damaging |
Het |
| Or5b123 |
T |
C |
19: 13,596,565 (GRCm39) |
L13P |
probably damaging |
Het |
| Or8b51 |
G |
A |
9: 38,569,023 (GRCm39) |
L222F |
probably benign |
Het |
| Pik3c2g |
A |
G |
6: 139,801,018 (GRCm39) |
M388V |
possibly damaging |
Het |
| Pls1 |
T |
C |
9: 95,667,665 (GRCm39) |
Q81R |
probably benign |
Het |
| Pole |
A |
G |
5: 110,460,648 (GRCm39) |
K1143E |
probably damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,143,317 (GRCm39) |
K155E |
probably benign |
Het |
| Rxra |
T |
A |
2: 27,642,318 (GRCm39) |
|
probably benign |
Het |
| Susd5 |
A |
G |
9: 113,925,260 (GRCm39) |
E381G |
possibly damaging |
Het |
| Svs5 |
T |
C |
2: 164,079,662 (GRCm39) |
T82A |
possibly damaging |
Het |
| Syt14 |
A |
T |
1: 192,584,175 (GRCm39) |
H413Q |
probably benign |
Het |
| Tg |
T |
A |
15: 66,556,039 (GRCm39) |
D910E |
probably benign |
Het |
| Timd5 |
T |
A |
11: 46,426,340 (GRCm39) |
V149D |
possibly damaging |
Het |
| Tpcn1 |
G |
T |
5: 120,694,640 (GRCm39) |
T143K |
probably damaging |
Het |
| Trbv5 |
G |
T |
6: 41,039,342 (GRCm39) |
|
probably benign |
Het |
| Trhr |
T |
A |
15: 44,061,095 (GRCm39) |
I205N |
possibly damaging |
Het |
| Trp73 |
A |
G |
4: 154,146,493 (GRCm39) |
V422A |
probably benign |
Het |
| Trpc6 |
G |
A |
9: 8,626,622 (GRCm39) |
C324Y |
probably damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Zfhx4 |
G |
T |
3: 5,468,907 (GRCm39) |
V3022F |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,763,141 (GRCm39) |
V347I |
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 |
|
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 |
|
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'- TCCACGTGTCAGGAACTTGG -3'
(R):5'- AGACAGACGATTCAGTCCCC -3'
Sequencing Primer
(F):5'- CACGTGTCAGGAACTTGGCTTTG -3'
(R):5'- AGACGATTCAGTCCCCCTAAATTCTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation