Incidental Mutation 'R6113:Chtf18'
| ID |
484983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chtf18
|
| Ensembl Gene |
ENSMUSG00000019214 |
| Gene Name |
CTF18, chromosome transmission fidelity factor 18 |
| Synonyms |
CTF18, 6030457M03Rik |
| MMRRC Submission |
044262-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.353)
|
| Stock # |
R6113 (G1)
|
| Quality Score |
182.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25938004-25946409 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25941841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 544
(R544C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047273]
[ENSMUST00000048054]
[ENSMUST00000115108]
[ENSMUST00000167940]
[ENSMUST00000170070]
[ENSMUST00000172002]
[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 damaging
Transcript: ENSMUST00000048054
AA Change: R544C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043896
Gene: ENSMUSG00000019214
AA Change: R544C
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
A |
16: 8,390,764 (GRCm39) |
T7N |
probably benign |
Het |
| Aldh1l2 |
G |
T |
10: 83,343,998 (GRCm39) |
C359* |
probably null |
Het |
| Atpsckmt |
T |
C |
15: 31,608,308 (GRCm39) |
Y120H |
probably damaging |
Het |
| Bpifb6 |
G |
A |
2: 153,752,651 (GRCm39) |
E384K |
probably benign |
Het |
| Cilp2 |
T |
C |
8: 70,335,009 (GRCm39) |
D663G |
probably benign |
Het |
| Cplx3 |
T |
A |
9: 57,509,723 (GRCm39) |
I92F |
probably damaging |
Het |
| Cr1l |
T |
C |
1: 194,813,719 (GRCm39) |
|
probably benign |
Het |
| Cyp1a1 |
T |
A |
9: 57,609,174 (GRCm39) |
F323I |
probably damaging |
Het |
| Dclk1 |
T |
C |
3: 55,397,240 (GRCm39) |
Y186H |
probably benign |
Het |
| Dclre1c |
T |
C |
2: 3,453,900 (GRCm39) |
L261P |
probably damaging |
Het |
| Dcst2 |
T |
C |
3: 89,275,192 (GRCm39) |
S312P |
possibly damaging |
Het |
| Dnah17 |
A |
G |
11: 118,017,101 (GRCm39) |
L213P |
probably damaging |
Het |
| Dnd1 |
T |
A |
18: 36,898,448 (GRCm39) |
Y102F |
probably damaging |
Het |
| Dnm1l |
T |
C |
16: 16,158,867 (GRCm39) |
N121S |
probably benign |
Het |
| Dsp |
T |
A |
13: 38,376,023 (GRCm39) |
N1269K |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,586,848 (GRCm39) |
V943A |
probably benign |
Het |
| Eml5 |
T |
A |
12: 98,790,933 (GRCm39) |
K1322* |
probably null |
Het |
| Fgf23 |
A |
G |
6: 127,055,117 (GRCm39) |
T76A |
probably benign |
Het |
| Fgf6 |
T |
C |
6: 126,992,900 (GRCm39) |
|
probably null |
Het |
| Fkbp15 |
G |
A |
4: 62,258,884 (GRCm39) |
T124I |
probably benign |
Het |
| Gm12185 |
A |
T |
11: 48,806,167 (GRCm39) |
H341Q |
possibly damaging |
Het |
| Gm20647 |
A |
G |
5: 72,487,143 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
G |
C |
2: 69,313,901 (GRCm39) |
R2277G |
possibly damaging |
Het |
| Lrrc69 |
T |
C |
4: 14,708,673 (GRCm39) |
T224A |
probably benign |
Het |
| Ly75 |
T |
G |
2: 60,199,217 (GRCm39) |
I175L |
probably benign |
Het |
| Morc2b |
G |
T |
17: 33,357,042 (GRCm39) |
Y243* |
probably null |
Het |
| Myo18b |
C |
G |
5: 113,014,251 (GRCm39) |
D764H |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,435,794 (GRCm39) |
S910G |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,261,422 (GRCm39) |
I21N |
possibly damaging |
Het |
| P3h2 |
A |
T |
16: 25,799,903 (GRCm39) |
I430K |
probably benign |
Het |
| Pcdh9 |
A |
G |
14: 94,124,544 (GRCm39) |
V542A |
probably damaging |
Het |
| Pkp3 |
T |
A |
7: 140,662,569 (GRCm39) |
N60K |
probably damaging |
Het |
| Pold1 |
C |
A |
7: 44,187,124 (GRCm39) |
G686C |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,606,673 (GRCm39) |
L58Q |
probably damaging |
Het |
| Rab13 |
C |
A |
3: 90,132,173 (GRCm39) |
R86S |
probably benign |
Het |
| Rad21l |
A |
C |
2: 151,499,398 (GRCm39) |
L265V |
probably damaging |
Het |
| Rec8 |
G |
A |
14: 55,859,935 (GRCm39) |
A228T |
probably damaging |
Het |
| Rgs12 |
C |
A |
5: 35,177,667 (GRCm39) |
R76S |
probably damaging |
Het |
| Sfmbt1 |
A |
G |
14: 30,537,141 (GRCm39) |
N670D |
possibly damaging |
Het |
| Slc17a7 |
A |
G |
7: 44,824,175 (GRCm39) |
T464A |
possibly damaging |
Het |
| Srcap |
C |
A |
7: 127,159,453 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
A |
T |
1: 131,283,243 (GRCm39) |
|
probably null |
Het |
| Tenm1 |
C |
T |
X: 41,916,072 (GRCm39) |
G404E |
probably damaging |
Het |
| Thpo |
C |
A |
16: 20,547,597 (GRCm39) |
|
probably benign |
Het |
| Tle4 |
A |
T |
19: 14,572,952 (GRCm39) |
|
probably null |
Het |
| Tnfrsf14 |
T |
C |
4: 155,008,949 (GRCm39) |
Q74R |
possibly damaging |
Het |
| Trav15-2-dv6-2 |
T |
G |
14: 53,887,182 (GRCm39) |
V34G |
probably benign |
Het |
| Trbv13-1 |
C |
T |
6: 41,093,313 (GRCm39) |
A82V |
probably benign |
Het |
| Trib1 |
C |
T |
15: 59,523,487 (GRCm39) |
R174* |
probably null |
Het |
| Trpv3 |
G |
A |
11: 73,176,844 (GRCm39) |
V408I |
probably benign |
Het |
| Tyk2 |
A |
T |
9: 21,019,218 (GRCm39) |
V1068E |
probably damaging |
Het |
| Usp35 |
A |
G |
7: 96,973,533 (GRCm39) |
S230P |
probably damaging |
Het |
| Utp25 |
T |
C |
1: 192,811,810 (GRCm39) |
I46V |
probably null |
Het |
| Vav1 |
T |
A |
17: 57,608,884 (GRCm39) |
D349E |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,805,655 (GRCm39) |
R114* |
probably null |
Het |
| Vmn1r25 |
T |
C |
6: 57,955,557 (GRCm39) |
E244G |
probably benign |
Het |
| Vmn2r5 |
T |
C |
3: 64,398,820 (GRCm39) |
T720A |
probably benign |
Het |
| Wdr72 |
T |
A |
9: 74,059,923 (GRCm39) |
D444E |
probably benign |
Het |
| Zfhx3 |
T |
A |
8: 109,674,053 (GRCm39) |
M1701K |
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 |
|
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'- AGACCTCTTGCCACACAGAG -3'
(R):5'- CGGGTTGTAGTATAGTCCTATCACG -3'
Sequencing Primer
(F):5'- TCTTGCCACACAGAGAATAGC -3'
(R):5'- ACAGAGCTGTTTACCGGC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation