Incidental Mutation 'R4051:Chtf18'
| ID |
314179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chtf18
|
| Ensembl Gene |
ENSMUSG00000019214 |
| Gene Name |
CTF18, chromosome transmission fidelity factor 18 |
| Synonyms |
CTF18, 6030457M03Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.353)
|
| Stock # |
R4051 ()
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25938004-25946409 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25938168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 955
(V955A)
|
| 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: V955A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043896
Gene: ENSMUSG00000019214
AA Change: V955A
| 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: V94A
|
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
C |
7: 45,635,987 (GRCm39) |
L1020R |
probably damaging |
Het |
| Ahnak |
A |
C |
19: 8,991,691 (GRCm39) |
D4325A |
probably damaging |
Het |
| Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
| Disc1 |
A |
G |
8: 125,875,164 (GRCm39) |
T547A |
possibly damaging |
Het |
| Eif4b |
A |
G |
15: 101,995,039 (GRCm39) |
Y211C |
probably benign |
Het |
| Fli1 |
T |
G |
9: 32,363,458 (GRCm39) |
D176A |
probably benign |
Het |
| Hcn2 |
A |
C |
10: 79,569,521 (GRCm39) |
|
probably null |
Het |
| Ice1 |
A |
G |
13: 70,751,646 (GRCm39) |
V1480A |
probably damaging |
Het |
| Ier5l |
A |
C |
2: 30,363,324 (GRCm39) |
S234A |
probably benign |
Het |
| Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
| Itga11 |
C |
T |
9: 62,662,933 (GRCm39) |
Q550* |
probably null |
Het |
| Kdr |
T |
A |
5: 76,129,068 (GRCm39) |
M193L |
probably benign |
Het |
| Kif3b |
G |
A |
2: 153,165,477 (GRCm39) |
R628Q |
probably damaging |
Het |
| Ldlrad3 |
C |
T |
2: 101,783,507 (GRCm39) |
D240N |
probably damaging |
Het |
| Met |
T |
C |
6: 17,548,728 (GRCm39) |
V924A |
possibly damaging |
Het |
| Or52m1 |
T |
C |
7: 102,290,233 (GRCm39) |
V260A |
possibly damaging |
Het |
| Peg10 |
T |
C |
6: 4,754,534 (GRCm39) |
L105P |
probably benign |
Het |
| Phtf1 |
A |
G |
3: 103,912,824 (GRCm39) |
T717A |
possibly damaging |
Het |
| Ptafr |
T |
C |
4: 132,307,305 (GRCm39) |
W232R |
probably benign |
Het |
| Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
| Slamf7 |
T |
C |
1: 171,464,951 (GRCm39) |
K261E |
possibly damaging |
Het |
| Slc9c1 |
T |
A |
16: 45,363,593 (GRCm39) |
Y120N |
probably damaging |
Het |
| Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,030,404 (GRCm39) |
Y420C |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,062,070 (GRCm39) |
C1210R |
probably benign |
Het |
| Tnfsf10 |
T |
A |
3: 27,389,503 (GRCm39) |
I188N |
probably damaging |
Het |
| Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
| Usp46 |
T |
C |
5: 74,163,416 (GRCm39) |
N283S |
probably benign |
Het |
| Vmn2r84 |
T |
G |
10: 130,226,767 (GRCm39) |
N357T |
probably damaging |
Het |
| Zfp217 |
T |
C |
2: 169,954,536 (GRCm39) |
|
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 |
|
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 |
|
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'- TAGAGAAGGCCAAGTGCACC -3'
(R):5'- CGTGTGGTCATCAGGAAAGTGG -3'
Sequencing Primer
(F):5'- AGTGCACCATCCTATGAGCCTG -3'
(R):5'- TCATCAGGAAAGTGGCAGTCCC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation