Incidental Mutation 'R1820:Chtf18'
ID |
204816 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chtf18
|
Ensembl Gene |
ENSMUSG00000019214 |
Gene Name |
CTF18, chromosome transmission fidelity factor 18 |
Synonyms |
CTF18, 6030457M03Rik |
MMRRC Submission |
039848-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.338)
|
Stock # |
R1820 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
25938004-25946409 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 25944913 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 211
(G211C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131366
(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 damaging
Transcript: ENSMUST00000048054
AA Change: G210C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043896 Gene: ENSMUSG00000019214 AA Change: G210C
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 |
noncoding transcript
Transcript: ENSMUST00000168914
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170070
AA Change: G211C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131768 Gene: ENSMUSG00000019214 AA Change: G211C
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 damaging
Transcript: ENSMUST00000170575
AA Change: G211C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131366 Gene: ENSMUSG00000019214 AA Change: G211C
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: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.5%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,197,018 (GRCm39) |
V197A |
possibly damaging |
Het |
9230109A22Rik |
T |
C |
15: 25,139,176 (GRCm39) |
|
noncoding transcript |
Het |
Acbd3 |
A |
G |
1: 180,572,703 (GRCm39) |
N321S |
probably benign |
Het |
Actr3b |
T |
C |
5: 26,054,156 (GRCm39) |
|
probably null |
Het |
Aldh5a1 |
T |
C |
13: 25,111,555 (GRCm39) |
D124G |
probably benign |
Het |
Arhgap35 |
G |
A |
7: 16,295,874 (GRCm39) |
R1064W |
possibly damaging |
Het |
Arhgef9 |
T |
A |
X: 94,125,142 (GRCm39) |
I225F |
probably damaging |
Het |
Arl16 |
T |
C |
11: 120,357,587 (GRCm39) |
T43A |
probably damaging |
Het |
Camsap3 |
T |
C |
8: 3,653,485 (GRCm39) |
W409R |
probably damaging |
Het |
Cfap43 |
T |
A |
19: 47,885,655 (GRCm39) |
H320L |
probably damaging |
Het |
Chac2 |
T |
A |
11: 30,927,496 (GRCm39) |
N141I |
probably damaging |
Het |
Cplane1 |
A |
G |
15: 8,299,129 (GRCm39) |
K3106E |
unknown |
Het |
Cwf19l1 |
T |
A |
19: 44,115,826 (GRCm39) |
Y201F |
probably benign |
Het |
Dcun1d1 |
A |
T |
3: 35,973,153 (GRCm39) |
L114* |
probably null |
Het |
Fdps |
A |
T |
3: 89,002,350 (GRCm39) |
H249Q |
probably benign |
Het |
Fhip1a |
T |
A |
3: 85,573,136 (GRCm39) |
T938S |
probably damaging |
Het |
Gabrg1 |
T |
A |
5: 70,931,756 (GRCm39) |
Y329F |
probably damaging |
Het |
Kctd8 |
T |
A |
5: 69,497,684 (GRCm39) |
I321F |
probably damaging |
Het |
Kdm5b |
G |
T |
1: 134,525,408 (GRCm39) |
R299L |
possibly damaging |
Het |
Kif23 |
T |
C |
9: 61,833,720 (GRCm39) |
T494A |
possibly damaging |
Het |
Kmt2e |
A |
G |
5: 23,678,545 (GRCm39) |
H208R |
probably damaging |
Het |
Lipo5 |
A |
T |
19: 33,441,995 (GRCm39) |
|
probably null |
Het |
Lrrc28 |
G |
T |
7: 67,290,859 (GRCm39) |
T54K |
probably damaging |
Het |
Luc7l2 |
G |
A |
6: 38,575,754 (GRCm39) |
|
probably null |
Het |
Man2a2 |
A |
G |
7: 80,008,681 (GRCm39) |
F899L |
probably benign |
Het |
Myo9b |
T |
C |
8: 71,786,002 (GRCm39) |
I633T |
probably damaging |
Het |
Nynrin |
A |
T |
14: 56,107,835 (GRCm39) |
I981F |
possibly damaging |
Het |
Or5an1c |
A |
T |
19: 12,218,612 (GRCm39) |
S138T |
probably damaging |
Het |
Or8g28 |
A |
G |
9: 39,169,695 (GRCm39) |
I91T |
possibly damaging |
Het |
Pank1 |
A |
G |
19: 34,855,084 (GRCm39) |
|
probably null |
Het |
Phc2 |
C |
T |
4: 128,637,336 (GRCm39) |
A47V |
probably damaging |
Het |
Plekhs1 |
A |
G |
19: 56,466,954 (GRCm39) |
R262G |
possibly damaging |
Het |
Pnp2 |
C |
A |
14: 51,201,914 (GRCm39) |
P300Q |
possibly damaging |
Het |
Polq |
T |
A |
16: 36,849,780 (GRCm39) |
S345T |
possibly damaging |
Het |
Prag1 |
A |
G |
8: 36,570,958 (GRCm39) |
T514A |
probably benign |
Het |
Psmd5 |
T |
C |
2: 34,760,758 (GRCm39) |
|
probably null |
Het |
Rfx6 |
T |
G |
10: 51,599,221 (GRCm39) |
|
probably null |
Het |
Rhbdd2 |
G |
A |
5: 135,664,903 (GRCm39) |
C78Y |
probably damaging |
Het |
Rnf157 |
G |
T |
11: 116,245,477 (GRCm39) |
P313T |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,602,202 (GRCm39) |
L4560P |
probably damaging |
Het |
Scai |
A |
T |
2: 38,996,990 (GRCm39) |
M268K |
possibly damaging |
Het |
Scd3 |
A |
T |
19: 44,230,245 (GRCm39) |
T343S |
probably benign |
Het |
Scimp |
A |
T |
11: 70,682,423 (GRCm39) |
S98T |
probably benign |
Het |
Sfrp2 |
A |
G |
3: 83,680,461 (GRCm39) |
N207S |
probably benign |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Sis |
T |
C |
3: 72,828,475 (GRCm39) |
Y1200C |
probably damaging |
Het |
Sp1 |
T |
A |
15: 102,317,511 (GRCm39) |
S343R |
possibly damaging |
Het |
Spata31d1a |
A |
T |
13: 59,849,069 (GRCm39) |
C1020S |
possibly damaging |
Het |
Spink5 |
A |
G |
18: 44,122,486 (GRCm39) |
N317S |
possibly damaging |
Het |
Sptbn2 |
A |
G |
19: 4,776,624 (GRCm39) |
D224G |
probably damaging |
Het |
St8sia3 |
T |
C |
18: 64,402,703 (GRCm39) |
I114T |
probably damaging |
Het |
Zscan5b |
C |
A |
7: 6,242,162 (GRCm39) |
H460Q |
probably 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 |
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 |
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'- TCTGAAAGCTGTTGGGCATC -3'
(R):5'- ACCTTAAAGCTGACTTCCCTTGG -3'
Sequencing Primer
(F):5'- GGCATCCTCCAGCAGTTGTTG -3'
(R):5'- TAAAGCTGACTTCCCTTGGACCAG -3'
|
Posted On |
2014-06-23 |