Incidental Mutation 'IGL03057:Chfr'
ID |
409290 |
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 # |
IGL03057
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
110283708-110319838 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 110291475 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 98
(Q98K)
|
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 |
probably benign
Transcript: ENSMUST00000014812
AA Change: Q98K
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000014812 Gene: ENSMUSG00000014668 AA Change: Q98K
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 benign
Transcript: ENSMUST00000112519
AA Change: Q98K
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000108138 Gene: ENSMUSG00000014668 AA Change: Q98K
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 benign
Transcript: ENSMUST00000198633
AA Change: Q98K
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000143480 Gene: ENSMUSG00000014668 AA Change: Q98K
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 benign
Transcript: ENSMUST00000199811
AA Change: Q98K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000143737 Gene: ENSMUSG00000014668 AA Change: Q98K
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
C |
T |
16: 56,488,754 (GRCm39) |
A1295V |
possibly damaging |
Het |
Adgre4 |
T |
C |
17: 56,106,602 (GRCm39) |
|
probably benign |
Het |
Atp8b2 |
A |
T |
3: 89,851,493 (GRCm39) |
Y901N |
probably damaging |
Het |
Bud31 |
A |
G |
5: 145,083,378 (GRCm39) |
T74A |
probably benign |
Het |
C4b |
C |
A |
17: 34,956,738 (GRCm39) |
|
probably benign |
Het |
Ccdc92 |
G |
A |
5: 124,912,753 (GRCm39) |
Q259* |
probably null |
Het |
Ccn4 |
T |
C |
15: 66,763,489 (GRCm39) |
|
probably benign |
Het |
Ciita |
T |
A |
16: 10,338,823 (GRCm39) |
|
probably benign |
Het |
Cnbd2 |
A |
T |
2: 156,209,592 (GRCm39) |
I512F |
possibly damaging |
Het |
Cpa2 |
A |
G |
6: 30,557,726 (GRCm39) |
Y346C |
probably damaging |
Het |
Cpxm1 |
A |
G |
2: 130,235,109 (GRCm39) |
L570P |
probably damaging |
Het |
Cylc1 |
G |
A |
X: 110,166,370 (GRCm39) |
G217D |
unknown |
Het |
Dennd2a |
T |
C |
6: 39,485,182 (GRCm39) |
I366V |
probably damaging |
Het |
Dis3 |
A |
T |
14: 99,327,426 (GRCm39) |
M359K |
possibly damaging |
Het |
Dock10 |
T |
C |
1: 80,545,088 (GRCm39) |
N848S |
probably damaging |
Het |
Dyrk3 |
C |
T |
1: 131,056,815 (GRCm39) |
V453I |
probably benign |
Het |
Ercc5 |
A |
G |
1: 44,206,161 (GRCm39) |
E358G |
probably damaging |
Het |
Fam167b |
C |
A |
4: 129,471,960 (GRCm39) |
C70F |
possibly damaging |
Het |
Flt1 |
G |
T |
5: 147,618,734 (GRCm39) |
Y200* |
probably null |
Het |
Garin4 |
A |
T |
1: 190,895,141 (GRCm39) |
S501T |
probably benign |
Het |
Ggh |
T |
C |
4: 20,065,770 (GRCm39) |
V288A |
probably benign |
Het |
Glb1l2 |
T |
C |
9: 26,717,586 (GRCm39) |
|
probably benign |
Het |
Gm28042 |
A |
G |
2: 119,862,637 (GRCm39) |
Y302C |
probably damaging |
Het |
Gsta2 |
A |
G |
9: 78,241,192 (GRCm39) |
|
probably benign |
Het |
Idh3b |
T |
A |
2: 130,126,321 (GRCm39) |
N6I |
probably benign |
Het |
Irs4 |
A |
G |
X: 140,505,524 (GRCm39) |
S891P |
unknown |
Het |
Kcmf1 |
G |
T |
6: 72,820,010 (GRCm39) |
R330S |
probably benign |
Het |
Kif26a |
G |
T |
12: 112,142,208 (GRCm39) |
E821* |
probably null |
Het |
L3mbtl1 |
A |
G |
2: 162,809,303 (GRCm39) |
E670G |
probably damaging |
Het |
Met |
A |
T |
6: 17,558,765 (GRCm39) |
D1131V |
probably damaging |
Het |
Neo1 |
T |
C |
9: 58,785,342 (GRCm39) |
E1428G |
probably damaging |
Het |
Odf2 |
A |
G |
2: 29,813,657 (GRCm39) |
|
probably benign |
Het |
Ogfod1 |
T |
A |
8: 94,782,766 (GRCm39) |
L294H |
possibly damaging |
Het |
Or8d1b |
G |
T |
9: 38,887,514 (GRCm39) |
V181F |
probably benign |
Het |
Pcdhb20 |
A |
T |
18: 37,637,851 (GRCm39) |
I126L |
possibly damaging |
Het |
Pcdhb9 |
A |
T |
18: 37,534,330 (GRCm39) |
Q108L |
probably benign |
Het |
Prdm10 |
G |
T |
9: 31,260,481 (GRCm39) |
R645L |
probably damaging |
Het |
Psmb11 |
T |
A |
14: 54,863,236 (GRCm39) |
C151* |
probably null |
Het |
Reep1 |
T |
A |
6: 71,784,765 (GRCm39) |
|
probably benign |
Het |
Reg3a |
G |
A |
6: 78,358,939 (GRCm39) |
A46T |
possibly damaging |
Het |
Rnf213 |
T |
A |
11: 119,331,913 (GRCm39) |
I2374N |
probably damaging |
Het |
Slc17a7 |
T |
C |
7: 44,820,363 (GRCm39) |
Y273H |
probably damaging |
Het |
Smg6 |
T |
A |
11: 74,826,260 (GRCm39) |
Y238* |
probably null |
Het |
Sorcs1 |
T |
A |
19: 50,248,194 (GRCm39) |
K411* |
probably null |
Het |
Spta1 |
G |
T |
1: 174,008,624 (GRCm39) |
A243S |
probably benign |
Het |
Tas2r135 |
A |
T |
6: 42,378,061 (GRCm39) |
|
probably benign |
Het |
Tbx18 |
T |
C |
9: 87,612,882 (GRCm39) |
R6G |
probably damaging |
Het |
Timp3 |
A |
G |
10: 86,136,815 (GRCm39) |
D33G |
possibly damaging |
Het |
Ttf1 |
A |
G |
2: 28,961,357 (GRCm39) |
K582E |
probably damaging |
Het |
Ubr5 |
C |
A |
15: 38,041,150 (GRCm39) |
|
probably benign |
Het |
Ugt2b1 |
A |
G |
5: 87,074,200 (GRCm39) |
V53A |
possibly damaging |
Het |
Ush2a |
G |
T |
1: 188,530,035 (GRCm39) |
G3275W |
probably damaging |
Het |
Usp19 |
G |
A |
9: 108,376,329 (GRCm39) |
V1023M |
probably benign |
Het |
Usp26 |
T |
C |
X: 50,846,135 (GRCm39) |
I47V |
possibly damaging |
Het |
Vapa |
A |
G |
17: 65,901,902 (GRCm39) |
V76A |
probably damaging |
Het |
Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,646,058 (GRCm39) |
N1993S |
probably damaging |
Het |
Wdr59 |
G |
A |
8: 112,202,750 (GRCm39) |
R598C |
probably damaging |
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 |
|
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 |
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 |
2016-08-02 |