Incidental Mutation 'IGL01333:Chfr'
| ID |
74551 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chfr
|
| Ensembl Gene |
ENSMUSG00000014668 |
| Gene Name |
checkpoint with forkhead and ring finger domains |
| Synonyms |
5730484M20Rik, RNF116 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
IGL01333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
110283708-110319838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110291439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 86
(K86E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014812]
[ENSMUST00000112519]
[ENSMUST00000198066]
[ENSMUST00000198633]
[ENSMUST00000199283]
[ENSMUST00000199557]
[ENSMUST00000199811]
[ENSMUST00000199672]
|
| AlphaFold |
Q810L3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014812
AA Change: K86E
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000014812
Gene: ENSMUSG00000014668
AA Change: K86E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
FHA
|
37 |
89 |
1.09e-6 |
SMART |
|
low complexity region
|
203 |
215 |
N/A |
INTRINSIC |
|
RING
|
303 |
341 |
2.63e-4 |
SMART |
|
low complexity region
|
396 |
421 |
N/A |
INTRINSIC |
|
RING
|
443 |
512 |
3.53e0 |
SMART |
|
Blast:VWA
|
593 |
655 |
3e-12 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112519
AA Change: K86E
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108138
Gene: ENSMUSG00000014668
AA Change: K86E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
FHA
|
37 |
89 |
1.09e-6 |
SMART |
|
low complexity region
|
203 |
215 |
N/A |
INTRINSIC |
|
RING
|
303 |
341 |
2.63e-4 |
SMART |
|
low complexity region
|
396 |
421 |
N/A |
INTRINSIC |
|
RING
|
443 |
513 |
3.63e0 |
SMART |
|
Blast:VWA
|
594 |
656 |
3e-12 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197010
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198066
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198633
AA Change: K86E
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143480
Gene: ENSMUSG00000014668
AA Change: K86E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
FHA
|
37 |
89 |
1.09e-6 |
SMART |
|
RING
|
231 |
269 |
2.63e-4 |
SMART |
|
low complexity region
|
324 |
349 |
N/A |
INTRINSIC |
|
RING
|
371 |
441 |
3.63e0 |
SMART |
|
Blast:VWA
|
522 |
584 |
2e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199283
|
| SMART Domains |
Protein: ENSMUSP00000143389
Gene: ENSMUSG00000014668
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lgpa_
|
14 |
50 |
7e-6 |
SMART |
|
PDB:1LGQ|B
|
16 |
50 |
8e-12 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199557
|
| SMART Domains |
Protein: ENSMUSP00000143113
Gene: ENSMUSG00000014668
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lgpa_
|
14 |
44 |
4e-5 |
SMART |
|
PDB:1LGQ|B
|
16 |
44 |
1e-10 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199811
AA Change: K86E
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143737
Gene: ENSMUSG00000014668
AA Change: K86E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
FHA
|
37 |
89 |
5.3e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199672
|
| 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 an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous null mice and MEFs display increased tumor incidence and inducibility, premature death, increased chromosomal instability, and cell cycle abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
G |
T |
7: 119,981,531 (GRCm39) |
C995F |
probably damaging |
Het |
| Adamts7 |
G |
T |
9: 90,069,032 (GRCm39) |
G525C |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,736,431 (GRCm39) |
E110G |
probably damaging |
Het |
| Ankrd7 |
A |
G |
6: 18,879,345 (GRCm39) |
H263R |
probably damaging |
Het |
| Cav3 |
T |
C |
6: 112,436,888 (GRCm39) |
|
probably null |
Het |
| Ccdc66 |
T |
C |
14: 27,215,272 (GRCm39) |
R423G |
possibly damaging |
Het |
| Cep76 |
C |
T |
18: 67,773,187 (GRCm39) |
R37Q |
probably benign |
Het |
| Eif2b3 |
T |
A |
4: 116,927,887 (GRCm39) |
S369T |
probably benign |
Het |
| Hgf |
A |
T |
5: 16,781,939 (GRCm39) |
R221* |
probably null |
Het |
| Hspg2 |
T |
C |
4: 137,267,625 (GRCm39) |
Y2078H |
probably damaging |
Het |
| Kif22 |
A |
C |
7: 126,633,367 (GRCm39) |
V55G |
probably damaging |
Het |
| Mme |
T |
C |
3: 63,253,512 (GRCm39) |
I452T |
probably damaging |
Het |
| Mrpl41 |
T |
C |
2: 24,864,453 (GRCm39) |
N73S |
probably benign |
Het |
| Mup6 |
T |
C |
4: 60,005,529 (GRCm39) |
F112S |
probably damaging |
Het |
| Nktr |
A |
G |
9: 121,560,630 (GRCm39) |
I125V |
possibly damaging |
Het |
| Nup205 |
T |
C |
6: 35,217,998 (GRCm39) |
F1784L |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,393,439 (GRCm39) |
D275G |
possibly damaging |
Het |
| Or4d11 |
G |
A |
19: 12,013,305 (GRCm39) |
T267I |
probably benign |
Het |
| Or5h19 |
T |
C |
16: 58,856,269 (GRCm39) |
Y277C |
probably damaging |
Het |
| Pde6c |
G |
A |
19: 38,164,143 (GRCm39) |
E666K |
probably benign |
Het |
| Pth2r |
A |
T |
1: 65,427,884 (GRCm39) |
D519V |
probably benign |
Het |
| Reln |
A |
T |
5: 22,376,249 (GRCm39) |
I169N |
probably damaging |
Het |
| Shoc1 |
T |
C |
4: 59,047,870 (GRCm39) |
N1250D |
possibly damaging |
Het |
| Slc25a13 |
A |
G |
6: 6,042,739 (GRCm39) |
|
probably null |
Het |
| Smg1 |
A |
G |
7: 117,762,601 (GRCm39) |
|
probably benign |
Het |
| Sp1 |
A |
G |
15: 102,339,364 (GRCm39) |
E434G |
probably damaging |
Het |
| Stt3b |
A |
T |
9: 115,086,612 (GRCm39) |
Y336N |
probably damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,263,055 (GRCm39) |
R135S |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,464,387 (GRCm39) |
T1515I |
probably damaging |
Het |
| Zfp280d |
A |
G |
9: 72,242,396 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Chfr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01479:Chfr
|
APN |
5 |
110,292,859 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02543:Chfr
|
APN |
5 |
110,291,413 (GRCm39) |
splice site |
probably null |
|
|
IGL02657:Chfr
|
APN |
5 |
110,302,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03057:Chfr
|
APN |
5 |
110,291,475 (GRCm39) |
missense |
probably benign |
0.14 |
|
PIT4445001:Chfr
|
UTSW |
5 |
110,299,543 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0938:Chfr
|
UTSW |
5 |
110,311,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1346:Chfr
|
UTSW |
5 |
110,288,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1561:Chfr
|
UTSW |
5 |
110,306,674 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1602:Chfr
|
UTSW |
5 |
110,299,531 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1658:Chfr
|
UTSW |
5 |
110,301,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2134:Chfr
|
UTSW |
5 |
110,292,627 (GRCm39) |
splice site |
probably null |
|
|
R2234:Chfr
|
UTSW |
5 |
110,318,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4371:Chfr
|
UTSW |
5 |
110,284,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4420:Chfr
|
UTSW |
5 |
110,318,746 (GRCm39) |
nonsense |
probably null |
|
|
R4666:Chfr
|
UTSW |
5 |
110,292,733 (GRCm39) |
nonsense |
probably null |
|
|
R4742:Chfr
|
UTSW |
5 |
110,291,464 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4809:Chfr
|
UTSW |
5 |
110,306,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5490:Chfr
|
UTSW |
5 |
110,300,995 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5581:Chfr
|
UTSW |
5 |
110,301,148 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5820:Chfr
|
UTSW |
5 |
110,310,605 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6012:Chfr
|
UTSW |
5 |
110,292,517 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7128:Chfr
|
UTSW |
5 |
110,291,502 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7166:Chfr
|
UTSW |
5 |
110,306,671 (GRCm39) |
missense |
probably benign |
|
|
R7278:Chfr
|
UTSW |
5 |
110,288,226 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7393:Chfr
|
UTSW |
5 |
110,300,224 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7422:Chfr
|
UTSW |
5 |
110,310,571 (GRCm39) |
splice site |
probably null |
|
|
R7499:Chfr
|
UTSW |
5 |
110,299,549 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8224:Chfr
|
UTSW |
5 |
110,308,109 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8264:Chfr
|
UTSW |
5 |
110,300,300 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8325:Chfr
|
UTSW |
5 |
110,310,629 (GRCm39) |
nonsense |
probably null |
|
|
R8333:Chfr
|
UTSW |
5 |
110,302,803 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8823:Chfr
|
UTSW |
5 |
110,300,258 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9024:Chfr
|
UTSW |
5 |
110,306,698 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9419:Chfr
|
UTSW |
5 |
110,317,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0013:Chfr
|
UTSW |
5 |
110,299,445 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1176:Chfr
|
UTSW |
5 |
110,292,761 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation