Incidental Mutation 'R6118:Chtf18'
ID |
485228 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chtf18
|
Ensembl Gene |
ENSMUSG00000019214 |
Gene Name |
CTF18, chromosome transmission fidelity factor 18 |
Synonyms |
CTF18, 6030457M03Rik |
MMRRC Submission |
044267-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.353)
|
Stock # |
R6118 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
25938004-25946409 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 25938133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 967
(D967N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043896
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048054]
[ENSMUST00000115108]
[ENSMUST00000167940]
[ENSMUST00000170575]
[ENSMUST00000172002]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048054
AA Change: D967N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043896 Gene: ENSMUSG00000019214 AA Change: D967N
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
30 |
N/A |
INTRINSIC |
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
low complexity region
|
117 |
130 |
N/A |
INTRINSIC |
low complexity region
|
154 |
168 |
N/A |
INTRINSIC |
coiled coil region
|
228 |
255 |
N/A |
INTRINSIC |
low complexity region
|
299 |
310 |
N/A |
INTRINSIC |
low complexity region
|
343 |
354 |
N/A |
INTRINSIC |
AAA
|
361 |
518 |
1.99e-11 |
SMART |
low complexity region
|
646 |
661 |
N/A |
INTRINSIC |
Blast:AAA
|
728 |
850 |
7e-9 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115108
|
SMART Domains |
Protein: ENSMUSP00000110760 Gene: ENSMUSG00000025739
Domain | Start | End | E-Value | Type |
G_gamma
|
3 |
67 |
1.32e-16 |
SMART |
GGL
|
6 |
67 |
2.09e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167940
|
SMART Domains |
Protein: ENSMUSP00000131349 Gene: ENSMUSG00000019214
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
Blast:AAA
|
21 |
107 |
9e-11 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168060
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168914
|
Predicted Effect |
unknown
Transcript: ENSMUST00000169767
AA Change: D106N
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170575
|
SMART Domains |
Protein: ENSMUSP00000131366 Gene: ENSMUSG00000019214
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
31 |
N/A |
INTRINSIC |
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
low complexity region
|
155 |
169 |
N/A |
INTRINSIC |
coiled coil region
|
229 |
256 |
N/A |
INTRINSIC |
low complexity region
|
300 |
311 |
N/A |
INTRINSIC |
low complexity region
|
344 |
355 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172002
|
SMART Domains |
Protein: ENSMUSP00000131648 Gene: ENSMUSG00000025739
Domain | Start | End | E-Value | Type |
G_gamma
|
3 |
67 |
1.32e-16 |
SMART |
GGL
|
6 |
67 |
2.09e-9 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a component of a replication factor C (RFC) complex, which loads proliferating cell nuclear antigen (PCNA) on to DNA during the S phase of cell cycle. The encoded protein may interact with other proteins, including RFC complex 3, to form a clamp loader complex that plays a role in sister chromatid cohesion during metaphase-anaphase transition. [provided by RefSeq, Jan 2016] PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial prenatal lethality, reduced body and testis weight, defective male meiosis, impaired spermatogenesis, oligozoospermia, and reduced male fertility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
T |
G |
10: 10,307,035 (GRCm39) |
K316N |
probably damaging |
Het |
Als2 |
A |
T |
1: 59,242,228 (GRCm39) |
V609E |
possibly damaging |
Het |
Ank3 |
A |
G |
10: 69,830,231 (GRCm39) |
I71V |
probably damaging |
Het |
Antxr2 |
T |
A |
5: 98,097,060 (GRCm39) |
D351V |
probably damaging |
Het |
Arel1 |
A |
G |
12: 84,988,713 (GRCm39) |
V12A |
possibly damaging |
Het |
Atad1 |
C |
T |
19: 32,664,697 (GRCm39) |
R239H |
possibly damaging |
Het |
B3galnt2 |
A |
G |
13: 14,166,094 (GRCm39) |
T330A |
probably damaging |
Het |
Bag6 |
T |
A |
17: 35,362,600 (GRCm39) |
I636N |
probably damaging |
Het |
C1qtnf6 |
T |
C |
15: 78,409,595 (GRCm39) |
D84G |
probably damaging |
Het |
Ceacam20 |
T |
C |
7: 19,705,654 (GRCm39) |
V215A |
possibly damaging |
Het |
Cntnap2 |
T |
A |
6: 47,170,011 (GRCm39) |
I1159K |
possibly damaging |
Het |
Col2a1 |
T |
C |
15: 97,896,448 (GRCm39) |
D67G |
unknown |
Het |
Csde1 |
T |
A |
3: 102,962,070 (GRCm39) |
V627E |
probably benign |
Het |
Epb41l1 |
G |
A |
2: 156,364,397 (GRCm39) |
E969K |
probably benign |
Het |
Fam53c |
A |
C |
18: 34,901,743 (GRCm39) |
E220A |
probably damaging |
Het |
Gabbr2 |
C |
T |
4: 46,736,459 (GRCm39) |
R474Q |
probably damaging |
Het |
H2bc18 |
T |
A |
3: 96,177,267 (GRCm39) |
V67E |
probably damaging |
Het |
Hap1 |
G |
T |
11: 100,246,620 (GRCm39) |
T95N |
probably benign |
Het |
Jmjd1c |
A |
G |
10: 67,075,791 (GRCm39) |
K1886R |
probably damaging |
Het |
Kndc1 |
A |
G |
7: 139,503,717 (GRCm39) |
D1007G |
probably damaging |
Het |
Mcm2 |
C |
T |
6: 88,864,818 (GRCm39) |
A553T |
probably damaging |
Het |
Memo1 |
T |
C |
17: 74,509,302 (GRCm39) |
Y239C |
possibly damaging |
Het |
Meox2 |
GCACCACCACCACCACCACCA |
GCACCACCACCACCACCA |
12: 37,159,030 (GRCm39) |
|
probably benign |
Het |
Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
Obsl1 |
A |
G |
1: 75,468,722 (GRCm39) |
|
probably benign |
Het |
Or4c107 |
T |
A |
2: 88,789,462 (GRCm39) |
Y217* |
probably null |
Het |
Or8k35 |
T |
A |
2: 86,424,758 (GRCm39) |
H138L |
probably benign |
Het |
Pold3 |
A |
G |
7: 99,745,614 (GRCm39) |
S180P |
possibly damaging |
Het |
Rbm12b2 |
T |
C |
4: 12,095,135 (GRCm39) |
S665P |
probably benign |
Het |
Rfc4 |
A |
T |
16: 22,939,693 (GRCm39) |
S86T |
probably damaging |
Het |
Rfx6 |
T |
A |
10: 51,587,962 (GRCm39) |
N277K |
possibly damaging |
Het |
Ryr2 |
C |
A |
13: 11,807,575 (GRCm39) |
V865F |
possibly damaging |
Het |
Skint4 |
T |
A |
4: 111,977,019 (GRCm39) |
|
probably null |
Het |
Slc38a10 |
T |
C |
11: 120,023,669 (GRCm39) |
Y249C |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,603,236 (GRCm39) |
T206A |
probably benign |
Het |
Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
Tbc1d1 |
C |
T |
5: 64,441,380 (GRCm39) |
L655F |
probably damaging |
Het |
Tpp2 |
A |
T |
1: 43,979,306 (GRCm39) |
I68F |
probably damaging |
Het |
Trim30c |
G |
T |
7: 104,031,288 (GRCm39) |
T509K |
probably benign |
Het |
Zfp827 |
G |
T |
8: 79,803,067 (GRCm39) |
K546N |
possibly damaging |
Het |
|
Other mutations in Chtf18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00973:Chtf18
|
APN |
17 |
25,941,090 (GRCm39) |
missense |
probably benign |
0.32 |
IGL02117:Chtf18
|
APN |
17 |
25,941,177 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL03034:Chtf18
|
APN |
17 |
25,946,320 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL03051:Chtf18
|
APN |
17 |
25,939,938 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03164:Chtf18
|
APN |
17 |
25,945,816 (GRCm39) |
missense |
probably benign |
0.24 |
R0046:Chtf18
|
UTSW |
17 |
25,942,434 (GRCm39) |
missense |
probably benign |
0.06 |
R0129:Chtf18
|
UTSW |
17 |
25,946,285 (GRCm39) |
nonsense |
probably null |
|
R1122:Chtf18
|
UTSW |
17 |
25,943,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R1302:Chtf18
|
UTSW |
17 |
25,938,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R1487:Chtf18
|
UTSW |
17 |
25,939,583 (GRCm39) |
missense |
probably benign |
0.00 |
R1614:Chtf18
|
UTSW |
17 |
25,946,064 (GRCm39) |
missense |
probably benign |
0.00 |
R1820:Chtf18
|
UTSW |
17 |
25,944,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R4051:Chtf18
|
UTSW |
17 |
25,938,168 (GRCm39) |
missense |
probably damaging |
0.98 |
R4357:Chtf18
|
UTSW |
17 |
25,938,106 (GRCm39) |
missense |
probably benign |
0.09 |
R4529:Chtf18
|
UTSW |
17 |
25,939,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R4804:Chtf18
|
UTSW |
17 |
25,938,231 (GRCm39) |
missense |
probably benign |
|
R4975:Chtf18
|
UTSW |
17 |
25,943,540 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5154:Chtf18
|
UTSW |
17 |
25,942,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R6113:Chtf18
|
UTSW |
17 |
25,941,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R6446:Chtf18
|
UTSW |
17 |
25,940,218 (GRCm39) |
missense |
probably benign |
0.01 |
R7057:Chtf18
|
UTSW |
17 |
25,940,100 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7095:Chtf18
|
UTSW |
17 |
25,941,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R7482:Chtf18
|
UTSW |
17 |
25,938,963 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7641:Chtf18
|
UTSW |
17 |
25,941,249 (GRCm39) |
splice site |
probably null |
|
R7729:Chtf18
|
UTSW |
17 |
25,942,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R7939:Chtf18
|
UTSW |
17 |
25,941,111 (GRCm39) |
missense |
probably damaging |
0.99 |
R8007:Chtf18
|
UTSW |
17 |
25,944,508 (GRCm39) |
missense |
probably damaging |
0.96 |
R8051:Chtf18
|
UTSW |
17 |
25,942,453 (GRCm39) |
missense |
probably benign |
0.05 |
R8296:Chtf18
|
UTSW |
17 |
25,941,165 (GRCm39) |
missense |
probably benign |
0.00 |
R8321:Chtf18
|
UTSW |
17 |
25,939,865 (GRCm39) |
missense |
probably benign |
0.32 |
R8433:Chtf18
|
UTSW |
17 |
25,945,918 (GRCm39) |
missense |
probably benign |
|
R9386:Chtf18
|
UTSW |
17 |
25,942,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGAACCCAGACCTGATG -3'
(R):5'- CAGAGGTGTGTATGGGTCAC -3'
Sequencing Primer
(F):5'- CCTGATGAAGAACAACCCTTGGG -3'
(R):5'- GGTGTGTATGGGTCACAGAAG -3'
|
Posted On |
2017-08-16 |