Incidental Mutation 'IGL02543:Chfr'
| ID |
298319 |
| 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 # |
IGL02543
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
110283708-110319838 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 110291413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014812]
[ENSMUST00000014812]
[ENSMUST00000112519]
[ENSMUST00000112519]
[ENSMUST00000198066]
[ENSMUST00000198633]
[ENSMUST00000198633]
[ENSMUST00000199283]
[ENSMUST00000199557]
[ENSMUST00000199811]
[ENSMUST00000199811]
[ENSMUST00000199672]
|
| AlphaFold |
Q810L3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000014812
|
| SMART Domains |
Protein: ENSMUSP00000014812
Gene: ENSMUSG00000014668
| 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 |
probably null
Transcript: ENSMUST00000014812
|
| SMART Domains |
Protein: ENSMUSP00000014812
Gene: ENSMUSG00000014668
| 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 |
probably null
Transcript: ENSMUST00000112519
|
| SMART Domains |
Protein: ENSMUSP00000108138
Gene: ENSMUSG00000014668
| 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 |
probably null
Transcript: ENSMUST00000112519
|
| SMART Domains |
Protein: ENSMUSP00000108138
Gene: ENSMUSG00000014668
| 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 |
probably null
Transcript: ENSMUST00000198633
|
| SMART Domains |
Protein: ENSMUSP00000143480
Gene: ENSMUSG00000014668
| 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 null
Transcript: ENSMUST00000198633
|
| SMART Domains |
Protein: ENSMUSP00000143480
Gene: ENSMUSG00000014668
| 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 |
probably null
Transcript: ENSMUST00000199811
|
| SMART Domains |
Protein: ENSMUSP00000143737
Gene: ENSMUSG00000014668
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
FHA
|
37 |
89 |
5.3e-9 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199811
|
| SMART Domains |
Protein: ENSMUSP00000143737
Gene: ENSMUSG00000014668
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
G |
T |
19: 31,895,495 (GRCm39) |
A193S |
probably damaging |
Het |
| Adcy4 |
T |
C |
14: 56,006,627 (GRCm39) |
T1069A |
probably benign |
Het |
| Arg2 |
A |
T |
12: 79,197,533 (GRCm39) |
I184F |
probably benign |
Het |
| Asb18 |
G |
A |
1: 89,942,113 (GRCm39) |
P63S |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 133,883,634 (GRCm39) |
H85R |
possibly damaging |
Het |
| Cog2 |
A |
G |
8: 125,256,698 (GRCm39) |
N148S |
probably benign |
Het |
| Csgalnact1 |
T |
C |
8: 68,913,720 (GRCm39) |
T162A |
probably damaging |
Het |
| Ddi1 |
C |
T |
9: 6,266,183 (GRCm39) |
G62D |
possibly damaging |
Het |
| Dhx33 |
T |
C |
11: 70,878,066 (GRCm39) |
Y435C |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,098,885 (GRCm39) |
C765S |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,722,529 (GRCm39) |
D362E |
probably benign |
Het |
| Gm28040 |
A |
T |
1: 133,247,069 (GRCm39) |
I26F |
possibly damaging |
Het |
| Gm28778 |
T |
C |
1: 53,338,202 (GRCm39) |
M22T |
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,799,303 (GRCm39) |
E98G |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,680,436 (GRCm39) |
I968T |
possibly damaging |
Het |
| Hlx |
T |
G |
1: 184,462,948 (GRCm39) |
S235R |
probably damaging |
Het |
| Jag1 |
T |
C |
2: 136,933,867 (GRCm39) |
|
probably benign |
Het |
| Kdr |
A |
G |
5: 76,125,607 (GRCm39) |
|
probably benign |
Het |
| Klhl3 |
T |
C |
13: 58,166,685 (GRCm39) |
E435G |
probably damaging |
Het |
| L3mbtl4 |
T |
C |
17: 68,768,607 (GRCm39) |
|
probably benign |
Het |
| Large1 |
T |
A |
8: 73,775,042 (GRCm39) |
M223L |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,760,413 (GRCm39) |
K2838E |
possibly damaging |
Het |
| Ncan |
T |
C |
8: 70,561,221 (GRCm39) |
D582G |
probably benign |
Het |
| Nedd9 |
T |
C |
13: 41,470,211 (GRCm39) |
D314G |
probably damaging |
Het |
| Nip7 |
T |
C |
8: 107,784,825 (GRCm39) |
|
probably benign |
Het |
| Or10j27 |
T |
G |
1: 172,957,901 (GRCm39) |
K294N |
probably damaging |
Het |
| Or52ae9 |
A |
T |
7: 103,389,710 (GRCm39) |
C246S |
possibly damaging |
Het |
| Or7a42 |
C |
A |
10: 78,791,773 (GRCm39) |
H245N |
probably damaging |
Het |
| P3h1 |
T |
C |
4: 119,095,053 (GRCm39) |
|
probably benign |
Het |
| Pcp4l1 |
C |
T |
1: 171,003,133 (GRCm39) |
|
probably benign |
Het |
| Plekhm2 |
C |
T |
4: 141,369,330 (GRCm39) |
G118D |
probably benign |
Het |
| Prkg1 |
T |
C |
19: 30,602,134 (GRCm39) |
D374G |
possibly damaging |
Het |
| Ptcd1 |
A |
G |
5: 145,091,497 (GRCm39) |
L534P |
possibly damaging |
Het |
| Rnf123 |
A |
G |
9: 107,943,547 (GRCm39) |
S563P |
probably damaging |
Het |
| Scart1 |
A |
G |
7: 139,800,491 (GRCm39) |
M91V |
probably benign |
Het |
| Sdk2 |
A |
T |
11: 113,759,747 (GRCm39) |
I418N |
possibly damaging |
Het |
| Slc26a4 |
A |
G |
12: 31,578,688 (GRCm39) |
I655T |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,993,618 (GRCm39) |
K524R |
probably damaging |
Het |
| Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
| Tbc1d22a |
C |
T |
15: 86,123,372 (GRCm39) |
A135V |
probably benign |
Het |
| Tenm3 |
A |
C |
8: 48,751,991 (GRCm39) |
W942G |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 130,092,840 (GRCm39) |
V1247I |
probably benign |
Het |
| Treml1 |
A |
G |
17: 48,667,459 (GRCm39) |
T115A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,540,306 (GRCm39) |
T34227A |
probably benign |
Het |
| Ugt2b38 |
T |
A |
5: 87,571,342 (GRCm39) |
D230V |
probably benign |
Het |
| Vmn1r203 |
G |
A |
13: 22,709,074 (GRCm39) |
G285D |
probably damaging |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,356 (GRCm39) |
S315P |
probably benign |
Het |
| Vmn2r98 |
T |
G |
17: 19,286,083 (GRCm39) |
S194A |
probably benign |
Het |
| Wdr1 |
G |
A |
5: 38,703,165 (GRCm39) |
S137F |
probably damaging |
Het |
| Wnt7b |
C |
T |
15: 85,443,097 (GRCm39) |
|
probably benign |
Het |
| Zfp668 |
A |
T |
7: 127,467,494 (GRCm39) |
C27* |
probably null |
Het |
|
| Other mutations in Chfr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01333:Chfr
|
APN |
5 |
110,291,439 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01479:Chfr
|
APN |
5 |
110,292,859 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation