Incidental Mutation 'IGL03344:Chtf8'
| ID |
417379 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chtf8
|
| Ensembl Gene |
ENSMUSG00000046691 |
| Gene Name |
CTF8, chromosome transmission fidelity factor 8 |
| Synonyms |
5830457O10Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.430)
|
| Stock # |
IGL03344
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
107610495-107620225 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107612904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 12
(P12S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034385]
[ENSMUST00000169312]
[ENSMUST00000175940]
[ENSMUST00000175987]
[ENSMUST00000176090]
[ENSMUST00000176437]
[ENSMUST00000176515]
[ENSMUST00000177068]
|
| AlphaFold |
P0CG15 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034385
|
| SMART Domains |
Protein: ENSMUSP00000034385
Gene: ENSMUSG00000031910
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
transmembrane domain
|
42 |
64 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
85 |
361 |
4e-22 |
PFAM |
|
Pfam:Glycos_transf_2
|
183 |
300 |
4.5e-7 |
PFAM |
|
Pfam:Glyco_transf_21
|
188 |
360 |
5.7e-8 |
PFAM |
|
Pfam:Chitin_synth_2
|
198 |
451 |
7.7e-17 |
PFAM |
|
Pfam:Glyco_trans_2_3
|
211 |
538 |
1.7e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169312
AA Change: P12S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129823
Gene: ENSMUSG00000046691
AA Change: P12S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
37 |
246 |
5.18e-7 |
PROSPERO |
|
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
339 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
344 |
520 |
5.18e-7 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175940
|
| SMART Domains |
Protein: ENSMUSP00000135077
Gene: ENSMUSG00000046691
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ctf8
|
3 |
113 |
4.3e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175987
|
| SMART Domains |
Protein: ENSMUSP00000135596
Gene: ENSMUSG00000031910
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
11 |
33 |
N/A |
INTRINSIC |
|
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
85 |
251 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176090
|
| SMART Domains |
Protein: ENSMUSP00000135221
Gene: ENSMUSG00000046691
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ctf8
|
1 |
94 |
8e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176437
AA Change: P12S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134860
Gene: ENSMUSG00000046691
AA Change: P12S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176515
|
| SMART Domains |
Protein: ENSMUSP00000135688
Gene: ENSMUSG00000046691
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ctf8
|
1 |
94 |
8e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177068
|
| SMART Domains |
Protein: ENSMUSP00000135029
Gene: ENSMUSG00000046691
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ctf8
|
3 |
113 |
4.3e-26 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternatively spliced transcript variants have been described. This gene has a pseudogene on chromosome X. [provided by RefSeq, Jan 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
T |
8: 79,975,005 (GRCm39) |
I26N |
probably damaging |
Het |
| Atxn7l1 |
A |
G |
12: 33,376,065 (GRCm39) |
N47D |
probably damaging |
Het |
| Cer1 |
A |
T |
4: 82,803,062 (GRCm39) |
W87R |
probably damaging |
Het |
| Chrna2 |
A |
G |
14: 66,388,415 (GRCm39) |
K477E |
probably damaging |
Het |
| Cplane1 |
C |
A |
15: 8,216,942 (GRCm39) |
P720Q |
possibly damaging |
Het |
| Deaf1 |
A |
T |
7: 140,877,461 (GRCm39) |
H555Q |
probably benign |
Het |
| Dop1a |
T |
G |
9: 86,418,197 (GRCm39) |
I1975M |
probably damaging |
Het |
| Ecpas |
A |
C |
4: 58,828,538 (GRCm39) |
V965G |
probably damaging |
Het |
| Fsd2 |
C |
A |
7: 81,209,657 (GRCm39) |
V62L |
probably benign |
Het |
| Fxyd6 |
T |
G |
9: 45,303,548 (GRCm39) |
L81R |
probably benign |
Het |
| Htt |
T |
A |
5: 35,064,810 (GRCm39) |
S3008T |
probably benign |
Het |
| Htt |
T |
A |
5: 35,037,172 (GRCm39) |
S2086T |
probably benign |
Het |
| Mybbp1a |
G |
T |
11: 72,336,028 (GRCm39) |
R447L |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 90,998,411 (GRCm39) |
V792A |
possibly damaging |
Het |
| Odad2 |
C |
A |
18: 7,129,434 (GRCm39) |
G915* |
probably null |
Het |
| Odr4 |
T |
C |
1: 150,239,295 (GRCm39) |
E386G |
probably damaging |
Het |
| Or1e32 |
T |
A |
11: 73,705,003 (GRCm39) |
I302L |
probably benign |
Het |
| Or1j14 |
T |
C |
2: 36,418,140 (GRCm39) |
S239P |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,482 (GRCm39) |
D121G |
possibly damaging |
Het |
| Puf60 |
A |
G |
15: 75,942,229 (GRCm39) |
V548A |
possibly damaging |
Het |
| Serpina3c |
T |
C |
12: 104,113,523 (GRCm39) |
I408V |
probably benign |
Het |
| Ska2 |
A |
G |
11: 87,000,139 (GRCm39) |
|
probably benign |
Het |
| Slc4a9 |
T |
A |
18: 36,668,654 (GRCm39) |
Y745N |
probably damaging |
Het |
| Spart |
T |
C |
3: 55,029,106 (GRCm39) |
M299T |
probably benign |
Het |
| Speer4f1 |
A |
G |
5: 17,685,332 (GRCm39) |
E209G |
possibly damaging |
Het |
| Tmem202 |
T |
C |
9: 59,426,351 (GRCm39) |
T272A |
possibly damaging |
Het |
| Vegfc |
T |
A |
8: 54,610,186 (GRCm39) |
I114N |
possibly damaging |
Het |
| Vmn1r61 |
T |
A |
7: 5,613,493 (GRCm39) |
T274S |
possibly damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,170 (GRCm39) |
N753S |
probably benign |
Het |
| Zmym6 |
A |
G |
4: 127,014,314 (GRCm39) |
T624A |
probably damaging |
Het |
|
| Other mutations in Chtf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0751:Chtf8
|
UTSW |
8 |
107,613,109 (GRCm39) |
splice site |
probably null |
|
|
R0927:Chtf8
|
UTSW |
8 |
107,612,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2087:Chtf8
|
UTSW |
8 |
107,612,568 (GRCm39) |
nonsense |
probably null |
|
|
R2359:Chtf8
|
UTSW |
8 |
107,612,048 (GRCm39) |
splice site |
probably null |
|
|
R3938:Chtf8
|
UTSW |
8 |
107,612,537 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4902:Chtf8
|
UTSW |
8 |
107,612,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7105:Chtf8
|
UTSW |
8 |
107,611,883 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8092:Chtf8
|
UTSW |
8 |
107,612,938 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8512:Chtf8
|
UTSW |
8 |
107,612,066 (GRCm39) |
missense |
probably benign |
|
|
R8704:Chtf8
|
UTSW |
8 |
107,612,672 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8987:Chtf8
|
UTSW |
8 |
107,612,735 (GRCm39) |
missense |
probably benign |
|
|
R9114:Chtf8
|
UTSW |
8 |
107,612,481 (GRCm39) |
missense |
probably benign |
|
|
R9127:Chtf8
|
UTSW |
8 |
107,613,640 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2016-08-02 |
Incidental Mutation