Incidental Mutation 'R8092:Chtf8'
| ID |
629940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chtf8
|
| Ensembl Gene |
ENSMUSG00000046691 |
| Gene Name |
CTF8, chromosome transmission fidelity factor 8 |
| Synonyms |
5830457O10Rik |
| MMRRC Submission |
067524-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.405)
|
| Stock # |
R8092 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
107610495-107620225 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107612938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 121
(V121A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135029
(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 benign
Transcript: ENSMUST00000169312
|
| SMART Domains |
Protein: ENSMUSP00000129823
Gene: ENSMUSG00000046691
| 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 |
possibly damaging
Transcript: ENSMUST00000175940
AA Change: V121A
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135077
Gene: ENSMUSG00000046691
AA Change: V121A
| 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 |
possibly damaging
Transcript: ENSMUST00000176090
AA Change: V102A
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135221
Gene: ENSMUSG00000046691
AA Change: V102A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ctf8
|
1 |
94 |
8e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176437
|
| SMART Domains |
Protein: ENSMUSP00000134860
Gene: ENSMUSG00000046691
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176515
AA Change: V102A
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135688
Gene: ENSMUSG00000046691
AA Change: V102A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ctf8
|
1 |
94 |
8e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177068
AA Change: V121A
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135029
Gene: ENSMUSG00000046691
AA Change: V121A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ctf8
|
3 |
113 |
4.3e-26 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
100% (40/40) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
T |
C |
12: 88,427,831 (GRCm39) |
S483P |
possibly damaging |
Het |
| Agr3 |
T |
A |
12: 35,997,593 (GRCm39) |
|
probably null |
Het |
| Anxa4 |
T |
C |
6: 86,718,873 (GRCm39) |
D282G |
probably damaging |
Het |
| Aplp2 |
A |
C |
9: 31,074,640 (GRCm39) |
|
probably null |
Het |
| Arfgef2 |
G |
A |
2: 166,701,754 (GRCm39) |
V714M |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,244,278 (GRCm39) |
F1393I |
probably benign |
Het |
| Cfap206 |
G |
A |
4: 34,728,897 (GRCm39) |
P3S |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,463,261 (GRCm39) |
D1410E |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,455,184 (GRCm39) |
Y1101C |
probably damaging |
Het |
| Dnajc3 |
A |
T |
14: 119,207,994 (GRCm39) |
|
probably null |
Het |
| Dpys |
C |
T |
15: 39,710,010 (GRCm39) |
D140N |
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,415,029 (GRCm39) |
Y642C |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,272,513 (GRCm39) |
V901I |
probably damaging |
Het |
| Gm45861 |
T |
C |
8: 28,057,823 (GRCm39) |
M1127T |
unknown |
Het |
| Gnpnat1 |
A |
G |
14: 45,618,388 (GRCm39) |
|
probably null |
Het |
| Hsd3b6 |
T |
A |
3: 98,713,456 (GRCm39) |
D281V |
possibly damaging |
Het |
| Kng2 |
T |
A |
16: 22,806,672 (GRCm39) |
Q509L |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,726,880 (GRCm39) |
D52E |
probably benign |
Het |
| Ly6g6c |
A |
G |
17: 35,287,867 (GRCm39) |
Y27C |
probably damaging |
Het |
| Mcc |
G |
A |
18: 44,892,299 (GRCm39) |
T105I |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,801,891 (GRCm39) |
K1279E |
probably benign |
Het |
| Ntmt2 |
A |
G |
1: 163,544,819 (GRCm39) |
Y55H |
probably damaging |
Het |
| Ntn4 |
A |
C |
10: 93,576,918 (GRCm39) |
K529Q |
probably damaging |
Het |
| Or4f57 |
C |
A |
2: 111,790,652 (GRCm39) |
M255I |
probably benign |
Het |
| P2ry14 |
C |
T |
3: 59,022,867 (GRCm39) |
V198M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,727,560 (GRCm39) |
D2139E |
unknown |
Het |
| Plxnb1 |
T |
A |
9: 108,929,573 (GRCm39) |
V143E |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,097,357 (GRCm39) |
D954Y |
probably damaging |
Het |
| Qrsl1 |
G |
A |
10: 43,760,749 (GRCm39) |
P278L |
probably damaging |
Het |
| Rnf17 |
C |
T |
14: 56,724,479 (GRCm39) |
R1108C |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,145,907 (GRCm39) |
S1716G |
probably benign |
Het |
| Slfn4 |
A |
T |
11: 83,079,831 (GRCm39) |
H507L |
probably benign |
Het |
| Snx18 |
T |
C |
13: 113,753,685 (GRCm39) |
E416G |
probably damaging |
Het |
| Srp9 |
T |
C |
1: 181,959,001 (GRCm39) |
V81A |
probably benign |
Het |
| Tex101 |
G |
A |
7: 24,369,778 (GRCm39) |
T62M |
probably damaging |
Het |
| Utp25 |
G |
A |
1: 192,802,671 (GRCm39) |
L349F |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Zbtb42 |
G |
T |
12: 112,646,275 (GRCm39) |
C150F |
probably damaging |
Het |
|
| Other mutations in Chtf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03344:Chtf8
|
APN |
8 |
107,612,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCTGCATTCCTTGGAAATGG -3'
(R):5'- CTGATCGTGGGCCATCATATCC -3'
Sequencing Primer
(F):5'- AATGGAGCCAGGTTTCCAC -3'
(R):5'- GGCCATCATATCCTGTATGGGAAAAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation