Incidental Mutation 'R7482:Chtf18'
| ID |
579879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chtf18
|
| Ensembl Gene |
ENSMUSG00000019214 |
| Gene Name |
CTF18, chromosome transmission fidelity factor 18 |
| Synonyms |
CTF18, 6030457M03Rik |
| MMRRC Submission |
045556-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
R7482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25938004-25946409 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 25938963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 820
(R820L)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000048054
AA Change: R820L
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000043896
Gene: ENSMUSG00000019214
AA Change: R820L
| 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
AA Change: R77L
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000131349
Gene: ENSMUSG00000019214
AA Change: R77L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
|
Blast:AAA
|
21 |
107 |
9e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169767
|
| 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 |
|
| Meta Mutation Damage Score |
0.2464 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
G |
A |
13: 111,392,673 (GRCm39) |
R336H |
probably damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Ap2a2 |
C |
T |
7: 141,182,210 (GRCm39) |
P180S |
possibly damaging |
Het |
| Arfgef2 |
T |
C |
2: 166,693,199 (GRCm39) |
|
probably null |
Het |
| Arhgef25 |
A |
T |
10: 127,021,540 (GRCm39) |
M226K |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,088,254 (GRCm39) |
D45G |
probably damaging |
Het |
| Bsn |
C |
A |
9: 107,990,728 (GRCm39) |
V1675F |
probably damaging |
Het |
| Cldn7 |
A |
G |
11: 69,856,865 (GRCm39) |
D38G |
possibly damaging |
Het |
| Clpb |
T |
C |
7: 101,435,926 (GRCm39) |
V615A |
possibly damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,460,194 (GRCm39) |
|
probably null |
Het |
| Dchs2 |
T |
A |
3: 83,156,032 (GRCm39) |
S798T |
possibly damaging |
Het |
| Ect2l |
A |
T |
10: 18,044,202 (GRCm39) |
M311K |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,501,941 (GRCm39) |
C4225S |
possibly damaging |
Het |
| Hecw2 |
T |
C |
1: 54,079,629 (GRCm39) |
H8R |
probably damaging |
Het |
| Hif3a |
G |
A |
7: 16,776,560 (GRCm39) |
T462I |
possibly damaging |
Het |
| Itgb2l |
T |
C |
16: 96,228,033 (GRCm39) |
E490G |
probably benign |
Het |
| Jakmip3 |
T |
A |
7: 138,627,228 (GRCm39) |
C411S |
possibly damaging |
Het |
| Klhl24 |
A |
G |
16: 19,933,405 (GRCm39) |
T339A |
possibly damaging |
Het |
| Mctp1 |
A |
T |
13: 76,889,579 (GRCm39) |
|
probably null |
Het |
| Mlf1 |
T |
A |
3: 67,300,227 (GRCm39) |
H81Q |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,587,324 (GRCm39) |
Y652N |
|
Het |
| Myo9b |
A |
G |
8: 71,795,442 (GRCm39) |
S804G |
probably benign |
Het |
| Or8b1 |
T |
G |
9: 38,399,747 (GRCm39) |
C141G |
probably damaging |
Het |
| Pramel58 |
T |
C |
5: 94,830,739 (GRCm39) |
I79T |
possibly damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,317,760 (GRCm39) |
E1043G |
probably benign |
Het |
| Radil |
A |
G |
5: 142,472,518 (GRCm39) |
V941A |
probably benign |
Het |
| Senp8 |
A |
G |
9: 59,644,943 (GRCm39) |
V71A |
probably damaging |
Het |
| Sh2d4a |
G |
A |
8: 68,749,328 (GRCm39) |
A121T |
probably benign |
Het |
| Stx17 |
A |
G |
4: 48,181,722 (GRCm39) |
D297G |
possibly damaging |
Het |
| Tas2r105 |
A |
T |
6: 131,663,972 (GRCm39) |
M152K |
probably benign |
Het |
| Tlr11 |
G |
T |
14: 50,600,456 (GRCm39) |
C814F |
probably damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,655,927 (GRCm39) |
V802A |
probably benign |
Het |
| Vmn1r234 |
A |
G |
17: 21,449,637 (GRCm39) |
N184D |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,510,468 (GRCm39) |
K671E |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,201,220 (GRCm39) |
F246L |
probably damaging |
Het |
| Xpo1 |
T |
G |
11: 23,232,544 (GRCm39) |
L355V |
probably benign |
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 |
|
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 |
|
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'- TCCACCTGAATGGAAGCATGAG -3'
(R):5'- TTGTCAGGACCTTGCCCTAC -3'
Sequencing Primer
(F):5'- AGCATGAGAGTCGGCTAGCC -3'
(R):5'- CCTACACCCAAGATCTTGAATTTGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation