Incidental Mutation 'R8433:Chtf18'
| ID |
653866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chtf18
|
| Ensembl Gene |
ENSMUSG00000019214 |
| Gene Name |
CTF18, chromosome transmission fidelity factor 18 |
| Synonyms |
CTF18, 6030457M03Rik |
| MMRRC Submission |
067823-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.353)
|
| Stock # |
R8433 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25938004-25946409 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25945918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 90
(S90P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047273]
[ENSMUST00000048054]
[ENSMUST00000170070]
[ENSMUST00000170575]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047273
|
| SMART Domains |
Protein: ENSMUSP00000043825
Gene: ENSMUSG00000041199
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PseudoU_synth_2
|
17 |
182 |
4.1e-27 |
PFAM |
|
low complexity region
|
271 |
287 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048054
AA Change: S90P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043896
Gene: ENSMUSG00000019214
AA Change: S90P
| 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: ENSMUST00000170070
AA Change: S91P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131768
Gene: ENSMUSG00000019214
AA Change: S91P
| 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: ENSMUST00000170575
AA Change: S91P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131366
Gene: ENSMUSG00000019214
AA Change: S91P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh1 |
A |
G |
4: 117,085,535 (GRCm39) |
V227A |
probably benign |
Het |
| Cfhr1 |
A |
T |
1: 139,485,276 (GRCm39) |
Y57N |
probably damaging |
Het |
| Eral1 |
A |
G |
11: 77,966,309 (GRCm39) |
S290P |
probably benign |
Het |
| Foxk1 |
T |
C |
5: 142,434,539 (GRCm39) |
F268L |
probably benign |
Het |
| Gsta3 |
A |
G |
1: 21,335,172 (GRCm39) |
K218E |
probably benign |
Het |
| Mapk8ip2 |
G |
A |
15: 89,342,069 (GRCm39) |
A427T |
probably benign |
Het |
| Mtch2 |
T |
A |
2: 90,677,505 (GRCm39) |
|
probably benign |
Het |
| Ndufc1 |
A |
G |
3: 51,316,311 (GRCm39) |
L14P |
probably damaging |
Het |
| Or55b4 |
A |
T |
7: 102,133,991 (GRCm39) |
I112N |
probably benign |
Het |
| Or56a3b |
T |
C |
7: 104,770,931 (GRCm39) |
F89S |
probably damaging |
Het |
| Or8k53 |
G |
A |
2: 86,177,144 (GRCm39) |
P322L |
unknown |
Het |
| Parn |
C |
A |
16: 13,485,413 (GRCm39) |
D28Y |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,627,759 (GRCm39) |
G229R |
probably damaging |
Het |
| Prpf3 |
A |
G |
3: 95,758,963 (GRCm39) |
V63A |
probably damaging |
Het |
| Ptger3 |
A |
C |
3: 157,349,592 (GRCm39) |
*363C |
probably null |
Het |
| Rnf6 |
A |
G |
5: 146,148,088 (GRCm39) |
V310A |
probably damaging |
Het |
| Scarf1 |
G |
A |
11: 75,411,858 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
G |
A |
5: 31,194,806 (GRCm39) |
A530V |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Svop |
A |
G |
5: 114,170,822 (GRCm39) |
C406R |
probably benign |
Het |
| Tnn |
G |
A |
1: 159,924,790 (GRCm39) |
S1452L |
possibly damaging |
Het |
| Tpx2 |
A |
G |
2: 152,722,056 (GRCm39) |
E216G |
probably damaging |
Het |
| Trim39 |
A |
G |
17: 36,571,597 (GRCm39) |
V387A |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,677,187 (GRCm39) |
K2039* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,718,600 (GRCm39) |
L464I |
possibly damaging |
Het |
| Wdr35 |
G |
A |
12: 9,058,495 (GRCm39) |
D562N |
probably damaging |
Het |
| Zfp541 |
C |
T |
7: 15,805,999 (GRCm39) |
L45F |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zswim5 |
A |
G |
4: 116,844,007 (GRCm39) |
Y1015C |
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 |
|
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 |
|
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 |
|
R9386:Chtf18
|
UTSW |
17 |
25,942,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATCCAACATCTCAGGGAAG -3'
(R):5'- CTCTGTCTCAGCAGGAACAC -3'
Sequencing Primer
(F):5'- GGAATCTGGATATAAGAGCTCCTCC -3'
(R):5'- TCTCAGCAGGAACACGGGAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation