Incidental Mutation 'R2359:Chtf8'
| ID |
247071 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chtf8
|
| Ensembl Gene |
ENSMUSG00000046691 |
| Gene Name |
CTF8, chromosome transmission fidelity factor 8 |
| Synonyms |
5830457O10Rik |
| MMRRC Submission |
040341-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.405)
|
| Stock # |
R2359 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
107610495-107620225 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4219 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 107612048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034385]
[ENSMUST00000169312]
[ENSMUST00000175940]
[ENSMUST00000175987]
[ENSMUST00000176090]
[ENSMUST00000176144]
[ENSMUST00000176437]
[ENSMUST00000177068]
[ENSMUST00000176515]
|
| AlphaFold |
P0CG15 |
| Predicted Effect |
probably null
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: S297Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129823
Gene: ENSMUSG00000046691
AA Change: S297Y
| 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 null
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 null
Transcript: ENSMUST00000176144
|
| SMART Domains |
Protein: ENSMUSP00000135303
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 |
4.5e-24 |
PFAM |
|
Pfam:Glyco_transf_21
|
189 |
360 |
7e-8 |
PFAM |
|
Pfam:Chitin_synth_2
|
197 |
457 |
3.2e-16 |
PFAM |
|
Pfam:Glyco_trans_2_3
|
211 |
537 |
5e-12 |
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 |
probably benign
Transcript: ENSMUST00000177068
|
| SMART Domains |
Protein: ENSMUSP00000135029
Gene: ENSMUSG00000046691
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ctf8
|
3 |
113 |
4.3e-26 |
PFAM |
|
| 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 |
|
| Meta Mutation Damage Score |
0.9347 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
95% (41/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
G |
8: 41,133,984 (GRCm39) |
E484G |
possibly damaging |
Het |
| Akr1c20 |
C |
T |
13: 4,573,276 (GRCm39) |
G13D |
probably damaging |
Het |
| Alkbh3 |
T |
C |
2: 93,838,458 (GRCm39) |
T38A |
probably benign |
Het |
| Anxa9 |
A |
C |
3: 95,210,062 (GRCm39) |
L99R |
probably damaging |
Het |
| Arfgef2 |
A |
T |
2: 166,702,539 (GRCm39) |
Y826F |
probably damaging |
Het |
| Arid2 |
G |
T |
15: 96,259,759 (GRCm39) |
L306F |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 77,000,746 (GRCm39) |
V29M |
probably damaging |
Het |
| Cd55b |
A |
G |
1: 130,345,858 (GRCm39) |
S187P |
probably damaging |
Het |
| Cep63 |
A |
C |
9: 102,471,763 (GRCm39) |
L526V |
possibly damaging |
Het |
| Clca4b |
T |
A |
3: 144,631,003 (GRCm39) |
S286C |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,481,873 (GRCm39) |
V1080A |
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,176,976 (GRCm39) |
V165I |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,766,398 (GRCm39) |
V399E |
probably damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,951,599 (GRCm39) |
S659P |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,630,106 (GRCm39) |
S967P |
possibly damaging |
Het |
| Efr3b |
G |
A |
12: 4,030,136 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
A |
G |
4: 136,673,343 (GRCm39) |
I147T |
probably damaging |
Het |
| Fbxo48 |
G |
A |
11: 16,903,602 (GRCm39) |
W76* |
probably null |
Het |
| Ggt6 |
A |
T |
11: 72,328,377 (GRCm39) |
L254F |
possibly damaging |
Het |
| Gm4204 |
T |
A |
1: 135,159,927 (GRCm39) |
|
noncoding transcript |
Het |
| Golph3l |
A |
G |
3: 95,499,275 (GRCm39) |
|
probably null |
Het |
| Gtf2h3 |
A |
G |
5: 124,728,939 (GRCm39) |
K166R |
probably damaging |
Het |
| Hsp90aa1 |
A |
G |
12: 110,661,003 (GRCm39) |
|
probably null |
Het |
| Hyi |
A |
G |
4: 118,217,538 (GRCm39) |
R79G |
probably benign |
Het |
| Igbp1b |
G |
A |
6: 138,634,713 (GRCm39) |
P244S |
probably damaging |
Het |
| Ipo8 |
G |
A |
6: 148,717,975 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
C |
A |
13: 9,208,199 (GRCm39) |
T391K |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,256,057 (GRCm39) |
V1133A |
probably benign |
Het |
| Med13 |
C |
T |
11: 86,181,861 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,156,379 (GRCm39) |
|
probably benign |
Het |
| Neurl1b |
T |
C |
17: 26,660,569 (GRCm39) |
F299L |
probably benign |
Het |
| Nosip |
G |
A |
7: 44,723,450 (GRCm39) |
A39T |
possibly damaging |
Het |
| Nsd1 |
A |
G |
13: 55,361,524 (GRCm39) |
D164G |
possibly damaging |
Het |
| Ntn1 |
G |
A |
11: 68,276,438 (GRCm39) |
T170M |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,572,396 (GRCm39) |
L1079Q |
probably damaging |
Het |
| Prxl2c |
A |
T |
13: 64,460,465 (GRCm39) |
C12S |
probably benign |
Het |
| Rab30 |
A |
G |
7: 92,485,005 (GRCm39) |
D129G |
possibly damaging |
Het |
| Rwdd2b |
C |
T |
16: 87,233,809 (GRCm39) |
S97N |
probably benign |
Het |
| Slitrk3 |
T |
G |
3: 72,956,678 (GRCm39) |
D698A |
possibly damaging |
Het |
| Smarcd2 |
T |
C |
11: 106,157,990 (GRCm39) |
M93V |
probably benign |
Het |
| Tmprss4 |
A |
G |
9: 45,097,130 (GRCm39) |
V45A |
probably benign |
Het |
| Vmn1r22 |
A |
T |
6: 57,877,974 (GRCm39) |
M1K |
probably null |
Het |
| Vps13a |
A |
G |
19: 16,630,043 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAAGACTCCAGCATTTACCC -3'
(R):5'- ATGTGGCTTAGGACCAGGTC -3'
Sequencing Primer
(F):5'- GCCACCTGGTCTTGAGAAATG -3'
(R):5'- AGGTCTTGGGCCCAACC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation