Incidental Mutation 'R0938:Chfr'
ID |
81236 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chfr
|
Ensembl Gene |
ENSMUSG00000014668 |
Gene Name |
checkpoint with forkhead and ring finger domains |
Synonyms |
5730484M20Rik, RNF116 |
MMRRC Submission |
039077-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.201)
|
Stock # |
R0938 (G1)
|
Quality Score |
207 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
110283708-110319838 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110311924 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 579
(L579P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108138
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014812]
[ENSMUST00000112519]
[ENSMUST00000198633]
[ENSMUST00000199672]
[ENSMUST00000199557]
[ENSMUST00000198066]
|
AlphaFold |
Q810L3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000014812
AA Change: L578P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000014812 Gene: ENSMUSG00000014668 AA Change: L578P
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 damaging
Transcript: ENSMUST00000112519
AA Change: L579P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108138 Gene: ENSMUSG00000014668 AA Change: L579P
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: ENSMUST00000130630
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130892
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135366
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141008
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152014
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198633
AA Change: L507P
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000143480 Gene: ENSMUSG00000014668 AA Change: L507P
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 |
noncoding transcript
Transcript: ENSMUST00000197005
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156579
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197010
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197968
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199672
|
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: ENSMUST00000198066
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.7%
- 20x: 88.1%
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcan |
A |
G |
3: 87,900,461 (GRCm39) |
S591P |
possibly damaging |
Het |
Dab2 |
C |
T |
15: 6,464,865 (GRCm39) |
T439I |
probably benign |
Het |
Dazap1 |
T |
C |
10: 80,116,795 (GRCm39) |
S165P |
possibly damaging |
Het |
Dlx2 |
C |
A |
2: 71,375,012 (GRCm39) |
W284L |
possibly damaging |
Het |
Dync2h1 |
A |
T |
9: 7,002,658 (GRCm39) |
N3803K |
probably benign |
Het |
Dynlrb2 |
A |
C |
8: 117,241,707 (GRCm39) |
|
probably null |
Het |
Fhl2 |
A |
G |
1: 43,180,866 (GRCm39) |
I108T |
possibly damaging |
Het |
Fntb |
A |
G |
12: 76,963,214 (GRCm39) |
Y399C |
probably damaging |
Het |
Galnt18 |
T |
C |
7: 111,119,206 (GRCm39) |
I438M |
possibly damaging |
Het |
Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
Ifi204 |
A |
T |
1: 173,579,311 (GRCm39) |
N511K |
possibly damaging |
Het |
Klhl1 |
A |
T |
14: 96,389,476 (GRCm39) |
Y559* |
probably null |
Het |
Mob1b |
T |
A |
5: 88,897,452 (GRCm39) |
I120N |
probably damaging |
Het |
Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
Oosp2 |
G |
A |
19: 11,628,904 (GRCm39) |
Q66* |
probably null |
Het |
P4ha2 |
A |
G |
11: 54,010,148 (GRCm39) |
K302E |
possibly damaging |
Het |
Pard6g |
C |
T |
18: 80,123,259 (GRCm39) |
R98* |
probably null |
Het |
Pkdrej |
G |
A |
15: 85,702,364 (GRCm39) |
P1191S |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Smim29 |
T |
C |
17: 27,783,368 (GRCm39) |
K43R |
possibly damaging |
Het |
Ubap2 |
A |
C |
4: 41,202,304 (GRCm39) |
L708R |
probably damaging |
Het |
Zfp638 |
G |
A |
6: 83,961,023 (GRCm39) |
V1204I |
probably benign |
Het |
Zfp865 |
G |
T |
7: 5,034,403 (GRCm39) |
C796F |
possibly damaging |
Het |
Zmiz2 |
A |
T |
11: 6,347,185 (GRCm39) |
M237L |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCAAAAGCCACTCAAGGACAG -3'
(R):5'- AGGTGCTGGAACATGACATACAGGT -3'
Sequencing Primer
(F):5'- AGCTGTGTTCTGGCTGTGTC -3'
(R):5'- gccctcttccagtgtgtc -3'
|
Posted On |
2013-11-07 |