Incidental Mutation 'R6446:Chtf18'
ID |
519210 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chtf18
|
Ensembl Gene |
ENSMUSG00000019214 |
Gene Name |
CTF18, chromosome transmission fidelity factor 18 |
Synonyms |
CTF18, 6030457M03Rik |
MMRRC Submission |
044583-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.353)
|
Stock # |
R6446 (G1)
|
Quality Score |
213.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
25938004-25946409 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25940218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 658
(S658P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043896
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048054]
[ENSMUST00000115108]
[ENSMUST00000167940]
[ENSMUST00000170070]
[ENSMUST00000172002]
[ENSMUST00000170575]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048054
AA Change: S658P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000043896 Gene: ENSMUSG00000019214 AA Change: S658P
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 |
probably benign
Transcript: ENSMUST00000169767
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170070
|
SMART Domains |
Protein: ENSMUSP00000131768 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 |
|
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 |
|
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 |
|
Meta Mutation Damage Score |
0.0917 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
Validation Efficiency |
97% (36/37) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp13a3 |
A |
G |
16: 30,180,687 (GRCm39) |
L114P |
probably benign |
Het |
Blm |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,652 (GRCm39) |
|
probably benign |
Het |
Catsperg1 |
T |
C |
7: 28,905,992 (GRCm39) |
I196V |
probably benign |
Het |
Cbx2 |
T |
A |
11: 118,918,752 (GRCm39) |
S106T |
probably benign |
Het |
Ccar2 |
T |
A |
14: 70,380,518 (GRCm39) |
E354V |
probably benign |
Het |
Ccr1 |
A |
G |
9: 123,764,143 (GRCm39) |
I129T |
probably damaging |
Het |
Cdkl2 |
T |
A |
5: 92,181,076 (GRCm39) |
I188F |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,737,900 (GRCm39) |
N2648D |
probably benign |
Het |
Csnka2ip |
G |
A |
16: 64,299,744 (GRCm39) |
Q207* |
probably null |
Het |
Dennd5a |
A |
G |
7: 109,493,873 (GRCm39) |
L1253P |
probably damaging |
Het |
Dennd6a |
T |
A |
14: 26,350,689 (GRCm39) |
I374K |
probably damaging |
Het |
Dut |
T |
C |
2: 125,092,939 (GRCm39) |
|
probably null |
Het |
Gcm1 |
T |
C |
9: 77,967,065 (GRCm39) |
Y95H |
probably benign |
Het |
Grid2 |
A |
T |
6: 64,322,577 (GRCm39) |
I526F |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,472,438 (GRCm39) |
Y2725N |
possibly damaging |
Het |
Helq |
A |
T |
5: 100,916,250 (GRCm39) |
N907K |
possibly damaging |
Het |
Hpse |
G |
A |
5: 100,843,435 (GRCm39) |
Q246* |
probably null |
Het |
Iigp1c |
A |
G |
18: 60,378,840 (GRCm39) |
D125G |
probably damaging |
Het |
Kcnj15 |
C |
T |
16: 95,097,118 (GRCm39) |
H247Y |
probably benign |
Het |
Kif27 |
C |
A |
13: 58,493,530 (GRCm39) |
V138F |
probably damaging |
Het |
Map7 |
T |
G |
10: 20,153,979 (GRCm39) |
D698E |
unknown |
Het |
Mtmr11 |
A |
T |
3: 96,078,504 (GRCm39) |
S687C |
probably benign |
Het |
Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
Nup210l |
G |
A |
3: 90,079,375 (GRCm39) |
G953E |
probably damaging |
Het |
Or14c45 |
T |
A |
7: 86,176,310 (GRCm39) |
I115N |
possibly damaging |
Het |
Piezo2 |
G |
T |
18: 63,219,678 (GRCm39) |
P792T |
probably damaging |
Het |
Pld3 |
T |
C |
7: 27,237,156 (GRCm39) |
D241G |
probably damaging |
Het |
Prss35 |
G |
T |
9: 86,637,706 (GRCm39) |
V159F |
probably damaging |
Het |
Rimbp3 |
A |
T |
16: 17,030,793 (GRCm39) |
M1406L |
probably benign |
Het |
Serpina3g |
T |
C |
12: 104,205,341 (GRCm39) |
F27L |
probably damaging |
Het |
Setd1b |
G |
A |
5: 123,299,862 (GRCm39) |
|
probably benign |
Het |
Sh3glb1 |
T |
C |
3: 144,411,366 (GRCm39) |
K13E |
probably damaging |
Het |
Slc29a1 |
A |
T |
17: 45,900,171 (GRCm39) |
I217N |
possibly damaging |
Het |
Spag17 |
A |
T |
3: 100,010,448 (GRCm39) |
T1981S |
probably benign |
Het |
Svil |
A |
C |
18: 5,057,323 (GRCm39) |
E590D |
probably benign |
Het |
Synm |
A |
G |
7: 67,384,714 (GRCm39) |
S541P |
probably damaging |
Het |
Vmn2r108 |
A |
T |
17: 20,692,609 (GRCm39) |
Y82* |
probably null |
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 |
R6118:Chtf18
|
UTSW |
17 |
25,938,133 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GGGAAAGTGATTCGTGGCAC -3'
(R):5'- AGGGCCTTCATTAGACTAGTAGG -3'
Sequencing Primer
(F):5'- TGGCACATGGCTGGAGG -3'
(R):5'- AGACTAGTAGGTCCTTCCCTGG -3'
|
Posted On |
2018-05-24 |