Incidental Mutation 'R8224:Chfr'
| ID |
636883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chfr
|
| Ensembl Gene |
ENSMUSG00000014668 |
| Gene Name |
checkpoint with forkhead and ring finger domains |
| Synonyms |
5730484M20Rik, RNF116 |
| MMRRC Submission |
067660-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R8224 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110283708-110319838 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 110308109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014812]
[ENSMUST00000112519]
[ENSMUST00000198066]
[ENSMUST00000198633]
[ENSMUST00000199557]
[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: 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 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 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.3%
|
| Validation Efficiency |
100% (49/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
T |
10: 29,094,249 (GRCm39) |
E45V |
probably damaging |
Het |
| Adamts9 |
A |
T |
6: 92,773,351 (GRCm39) |
V1754D |
probably damaging |
Het |
| Ankrd26 |
G |
A |
6: 118,502,716 (GRCm39) |
T818M |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,888,632 (GRCm39) |
E242G |
possibly damaging |
Het |
| Cdh20 |
G |
T |
1: 109,921,933 (GRCm39) |
L8F |
probably benign |
Het |
| Cenpa |
T |
C |
5: 30,830,699 (GRCm39) |
|
probably benign |
Het |
| Cfap61 |
T |
C |
2: 145,781,800 (GRCm39) |
V11A |
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,271,137 (GRCm39) |
Y630F |
unknown |
Het |
| Cst5 |
A |
G |
2: 149,251,902 (GRCm39) |
N126D |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,354,688 (GRCm39) |
T1903A |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Gon4l |
A |
G |
3: 88,802,449 (GRCm39) |
E1020G |
probably damaging |
Het |
| Gp1ba |
A |
G |
11: 70,530,683 (GRCm39) |
N150D |
unknown |
Het |
| Gstm2 |
T |
C |
3: 107,891,314 (GRCm39) |
I169V |
probably benign |
Het |
| Ighv1-75 |
A |
T |
12: 115,797,859 (GRCm39) |
V21D |
probably benign |
Het |
| Il7 |
T |
C |
3: 7,642,308 (GRCm39) |
M51V |
possibly damaging |
Het |
| Insm2 |
A |
T |
12: 55,646,763 (GRCm39) |
D169V |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,080,628 (GRCm39) |
D373G |
noncoding transcript |
Het |
| Kif16b |
T |
C |
2: 142,676,008 (GRCm39) |
N431D |
probably benign |
Het |
| Kmt2a |
A |
C |
9: 44,719,326 (GRCm39) |
I3925S |
unknown |
Het |
| Lgi4 |
G |
A |
7: 30,763,017 (GRCm39) |
C164Y |
probably damaging |
Het |
| Lrfn5 |
A |
T |
12: 61,890,192 (GRCm39) |
I494F |
possibly damaging |
Het |
| Map9 |
T |
C |
3: 82,266,370 (GRCm39) |
I5T |
probably benign |
Het |
| Ncf2 |
T |
C |
1: 152,706,144 (GRCm39) |
V252A |
possibly damaging |
Het |
| Nlrp4g |
A |
T |
9: 124,353,374 (GRCm38) |
I573F |
noncoding transcript |
Het |
| Nrn1 |
G |
A |
13: 36,918,258 (GRCm39) |
L3F |
probably damaging |
Het |
| Or1ab2 |
A |
G |
8: 72,864,223 (GRCm39) |
D271G |
noncoding transcript |
Het |
| Or2d2 |
T |
A |
7: 106,728,079 (GRCm39) |
I174F |
probably damaging |
Het |
| Or5h24 |
A |
T |
16: 58,919,117 (GRCm39) |
D79E |
unknown |
Het |
| Or6c8 |
A |
G |
10: 128,915,304 (GRCm39) |
F176S |
possibly damaging |
Het |
| Otop1 |
C |
A |
5: 38,457,846 (GRCm39) |
T535K |
possibly damaging |
Het |
| Pacs2 |
A |
G |
12: 113,023,380 (GRCm39) |
T333A |
probably damaging |
Het |
| Pax3 |
T |
C |
1: 78,098,327 (GRCm39) |
Y354C |
probably damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,320,348 (GRCm39) |
S1448P |
probably damaging |
Het |
| Pias4 |
C |
A |
10: 81,003,565 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12b |
T |
C |
1: 134,830,200 (GRCm39) |
N113S |
probably benign |
Het |
| Ptpn12 |
G |
T |
5: 21,203,656 (GRCm39) |
P374Q |
probably damaging |
Het |
| Reg4 |
A |
T |
3: 98,132,011 (GRCm39) |
|
probably benign |
Het |
| Sh3bp5 |
T |
C |
14: 31,099,473 (GRCm39) |
D256G |
probably damaging |
Het |
| Slc25a32 |
C |
G |
15: 38,976,015 (GRCm39) |
|
probably benign |
Het |
| Tnip2 |
C |
T |
5: 34,671,003 (GRCm39) |
R80Q |
possibly damaging |
Het |
| Uroc1 |
A |
G |
6: 90,321,049 (GRCm39) |
|
probably null |
Het |
| Washc2 |
A |
C |
6: 116,218,457 (GRCm39) |
K634T |
probably damaging |
Het |
| Xpot |
A |
T |
10: 121,443,513 (GRCm39) |
Y405N |
probably damaging |
Het |
| Yes1 |
T |
C |
5: 32,816,417 (GRCm39) |
Y365H |
probably benign |
Het |
| Zfp607a |
A |
T |
7: 27,577,536 (GRCm39) |
E202V |
probably damaging |
Het |
| Zfp932 |
T |
C |
5: 110,144,480 (GRCm39) |
|
probably benign |
Het |
| Zfp947 |
A |
C |
17: 22,364,363 (GRCm39) |
M437R |
probably benign |
Het |
| Zscan10 |
A |
G |
17: 23,828,366 (GRCm39) |
T303A |
probably benign |
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 |
|
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 |
|
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'- CTTGAGTCTGGTGCTAAATGTC -3'
(R):5'- TTTCTCCAGTATAGGAAAACCAGG -3'
Sequencing Primer
(F):5'- AGTCTGGTGCTAAATGTCCTCAG -3'
(R):5'- AGCAATGTGGGTTTGAGAATTTCAAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation