Incidental Mutation 'R6012:Chfr'
ID |
479801 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chfr
|
Ensembl Gene |
ENSMUSG00000014668 |
Gene Name |
checkpoint with forkhead and ring finger domains |
Synonyms |
5730484M20Rik, RNF116 |
MMRRC Submission |
044188-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.201)
|
Stock # |
R6012 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
110283708-110319838 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to T
at 110292517 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143480
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014812]
[ENSMUST00000014812]
[ENSMUST00000112519]
[ENSMUST00000198066]
[ENSMUST00000198633]
[ENSMUST00000198633]
[ENSMUST00000199283]
[ENSMUST00000199557]
[ENSMUST00000199672]
[ENSMUST00000199811]
|
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 |
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 benign
Transcript: ENSMUST00000199672
|
Predicted Effect |
probably benign
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 |
|
Meta Mutation Damage Score |
0.9589 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.4%
|
Validation Efficiency |
100% (55/55) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
T |
A |
16: 8,400,691 (GRCm39) |
Y97N |
probably damaging |
Het |
Adrm1b |
C |
A |
3: 92,336,791 (GRCm39) |
|
probably null |
Het |
Akr1b10 |
A |
T |
6: 34,364,715 (GRCm39) |
I59F |
probably damaging |
Het |
Als2 |
A |
T |
1: 59,224,374 (GRCm39) |
D1076E |
probably damaging |
Het |
Bank1 |
T |
C |
3: 135,919,598 (GRCm39) |
D266G |
probably benign |
Het |
Bmp2k |
T |
A |
5: 97,211,467 (GRCm39) |
|
probably null |
Het |
Cdc42bpa |
A |
G |
1: 179,892,655 (GRCm39) |
Y273C |
probably damaging |
Het |
Dapk1 |
A |
T |
13: 60,909,476 (GRCm39) |
Q1363L |
probably benign |
Het |
Ddx23 |
A |
T |
15: 98,548,651 (GRCm39) |
D352E |
possibly damaging |
Het |
Ect2 |
T |
C |
3: 27,152,474 (GRCm39) |
|
probably benign |
Het |
Efcab10 |
A |
C |
12: 33,448,592 (GRCm39) |
D107A |
probably damaging |
Het |
Fcgr4 |
G |
A |
1: 170,853,233 (GRCm39) |
G146D |
possibly damaging |
Het |
Fgd5 |
A |
G |
6: 91,966,322 (GRCm39) |
T694A |
possibly damaging |
Het |
Ghr |
T |
C |
15: 3,370,409 (GRCm39) |
D152G |
probably damaging |
Het |
Gli2 |
A |
C |
1: 118,765,445 (GRCm39) |
L902R |
probably damaging |
Het |
Glis2 |
G |
A |
16: 4,429,172 (GRCm39) |
G125D |
possibly damaging |
Het |
Gmcl1 |
A |
G |
6: 86,698,394 (GRCm39) |
Y168H |
probably damaging |
Het |
Golga4 |
A |
G |
9: 118,388,764 (GRCm39) |
K1962R |
possibly damaging |
Het |
Hebp1 |
T |
A |
6: 135,145,055 (GRCm39) |
E14V |
probably damaging |
Het |
Hhla1 |
A |
C |
15: 65,820,339 (GRCm39) |
I137S |
probably damaging |
Het |
Hivep1 |
A |
G |
13: 42,337,934 (GRCm39) |
H2671R |
possibly damaging |
Het |
Hltf |
A |
G |
3: 20,113,098 (GRCm39) |
Y19C |
probably damaging |
Het |
Hsd3b2 |
A |
T |
3: 98,619,333 (GRCm39) |
M204K |
probably benign |
Het |
Hspa4l |
A |
T |
3: 40,736,031 (GRCm39) |
I551F |
probably benign |
Het |
Itpkc |
A |
T |
7: 26,927,490 (GRCm39) |
D141E |
probably damaging |
Het |
Kcnc3 |
A |
G |
7: 44,248,296 (GRCm39) |
D757G |
probably benign |
Het |
Mettl16 |
A |
T |
11: 74,678,474 (GRCm39) |
Y141F |
probably damaging |
Het |
Mfng |
G |
A |
15: 78,640,840 (GRCm39) |
R302C |
probably damaging |
Het |
Mogs |
T |
A |
6: 83,094,363 (GRCm39) |
S393R |
probably damaging |
Het |
Mrps28 |
A |
G |
3: 8,965,044 (GRCm39) |
|
probably null |
Het |
Nfat5 |
T |
C |
8: 108,093,765 (GRCm39) |
S150P |
probably benign |
Het |
Or2w1 |
T |
C |
13: 21,316,978 (GRCm39) |
V11A |
probably benign |
Het |
Or7d10 |
A |
T |
9: 19,832,237 (GRCm39) |
H244L |
probably damaging |
Het |
Pcdh12 |
A |
G |
18: 38,416,805 (GRCm39) |
S107P |
probably damaging |
Het |
Phf21a |
G |
A |
2: 92,182,120 (GRCm39) |
D463N |
probably damaging |
Het |
Picalm |
A |
C |
7: 89,844,908 (GRCm39) |
I567L |
probably benign |
Het |
Pla2g4a |
T |
A |
1: 149,808,428 (GRCm39) |
D5V |
possibly damaging |
Het |
Sspo |
C |
T |
6: 48,428,305 (GRCm39) |
T222M |
probably benign |
Het |
Stard9 |
T |
C |
2: 120,535,067 (GRCm39) |
S3775P |
probably damaging |
Het |
Stk31 |
A |
T |
6: 49,446,243 (GRCm39) |
D982V |
probably damaging |
Het |
Tas2r113 |
C |
T |
6: 132,870,644 (GRCm39) |
T224I |
probably damaging |
Het |
Tbc1d15 |
T |
C |
10: 115,055,112 (GRCm39) |
D310G |
probably damaging |
Het |
Tcf12 |
G |
T |
9: 71,766,229 (GRCm39) |
T468K |
possibly damaging |
Het |
Tenm4 |
A |
G |
7: 96,171,640 (GRCm39) |
|
probably benign |
Het |
Tet2 |
A |
G |
3: 133,172,542 (GRCm39) |
Y1907H |
possibly damaging |
Het |
Thsd7a |
T |
C |
6: 12,379,388 (GRCm39) |
|
probably null |
Het |
Tln1 |
T |
A |
4: 43,539,508 (GRCm39) |
T1605S |
probably benign |
Het |
Trp53bp1 |
T |
C |
2: 121,087,083 (GRCm39) |
Y191C |
probably benign |
Het |
Ugcg |
T |
A |
4: 59,220,272 (GRCm39) |
I355N |
probably damaging |
Het |
Vmn1r21 |
A |
T |
6: 57,820,891 (GRCm39) |
D184E |
probably damaging |
Het |
Vsig10l |
T |
A |
7: 43,117,439 (GRCm39) |
D575E |
probably damaging |
Het |
Zan |
G |
A |
5: 137,462,791 (GRCm39) |
T796I |
unknown |
Het |
Zfp639 |
A |
G |
3: 32,573,271 (GRCm39) |
D61G |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGAGACCATTTTCCCCTTTGG -3'
(R):5'- CTGGACCTGAGCAATCTTTGG -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- GCAATCTTTGGTCACATGGAAC -3'
|
Posted On |
2017-06-26 |