Incidental Mutation 'R5820:Chfr'
| ID |
449850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chfr
|
| Ensembl Gene |
ENSMUSG00000014668 |
| Gene Name |
checkpoint with forkhead and ring finger domains |
| Synonyms |
5730484M20Rik, RNF116 |
| MMRRC Submission |
043400-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R5820 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
110283708-110319838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110310605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 475
(D475E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014812]
[ENSMUST00000112519]
[ENSMUST00000198633]
[ENSMUST00000198066]
[ENSMUST00000199672]
[ENSMUST00000199557]
|
| AlphaFold |
Q810L3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014812
AA Change: D546E
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000014812
Gene: ENSMUSG00000014668
AA Change: D546E
| 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: D547E
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108138
Gene: ENSMUSG00000014668
AA Change: D547E
| 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: ENSMUST00000152014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197010
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198633
AA Change: D475E
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143480
Gene: ENSMUSG00000014668
AA Change: D475E
| 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: ENSMUST00000198066
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
G |
14: 118,841,607 (GRCm39) |
Y596H |
probably benign |
Het |
| Adgrg3 |
A |
T |
8: 95,766,221 (GRCm39) |
M351L |
possibly damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arhgef38 |
A |
T |
3: 132,866,560 (GRCm39) |
D192E |
probably benign |
Het |
| Arhgef40 |
T |
C |
14: 52,224,953 (GRCm39) |
F33L |
possibly damaging |
Het |
| Arid1b |
A |
G |
17: 5,046,529 (GRCm39) |
Y439C |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,093,675 (GRCm39) |
V875A |
probably benign |
Het |
| Bop1 |
G |
A |
15: 76,339,041 (GRCm39) |
P386S |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,007,342 (GRCm39) |
H453R |
probably damaging |
Het |
| Canx |
A |
G |
11: 50,199,210 (GRCm39) |
V153A |
probably damaging |
Het |
| Clcn7 |
A |
C |
17: 25,368,026 (GRCm39) |
K208T |
probably damaging |
Het |
| Cmya5 |
G |
T |
13: 93,229,288 (GRCm39) |
N1933K |
probably benign |
Het |
| CN725425 |
A |
G |
15: 91,144,900 (GRCm39) |
T588A |
possibly damaging |
Het |
| Cwh43 |
G |
A |
5: 73,585,975 (GRCm39) |
W358* |
probably null |
Het |
| Cyfip2 |
A |
T |
11: 46,091,531 (GRCm39) |
W1130R |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,409,155 (GRCm39) |
D397V |
possibly damaging |
Het |
| Disp1 |
T |
C |
1: 182,917,151 (GRCm39) |
S92G |
probably benign |
Het |
| Dusp6 |
A |
G |
10: 99,099,864 (GRCm39) |
D104G |
possibly damaging |
Het |
| Dzank1 |
C |
T |
2: 144,355,408 (GRCm39) |
V96M |
probably damaging |
Het |
| Ecscr |
C |
A |
18: 35,850,320 (GRCm39) |
V52F |
possibly damaging |
Het |
| Epha7 |
A |
T |
4: 28,949,365 (GRCm39) |
N712I |
probably damaging |
Het |
| Eva1a |
C |
T |
6: 82,048,154 (GRCm39) |
P11S |
probably benign |
Het |
| Fam187b |
T |
C |
7: 30,676,577 (GRCm39) |
C29R |
probably damaging |
Het |
| Fau |
T |
C |
19: 6,109,452 (GRCm39) |
V117A |
probably benign |
Het |
| Fbxw11 |
A |
G |
11: 32,685,374 (GRCm39) |
D369G |
probably damaging |
Het |
| Fkbp15 |
A |
G |
4: 62,263,783 (GRCm39) |
F95L |
probably benign |
Het |
| Fkbp6 |
A |
T |
5: 135,368,774 (GRCm39) |
|
probably null |
Het |
| Fmo9 |
T |
C |
1: 166,492,170 (GRCm39) |
K367E |
possibly damaging |
Het |
| Gad2 |
T |
C |
2: 22,580,261 (GRCm39) |
V554A |
probably benign |
Het |
| Gm18025 |
T |
C |
12: 34,340,631 (GRCm39) |
D154G |
probably benign |
Het |
| Gm4353 |
A |
G |
7: 115,683,693 (GRCm39) |
F34S |
possibly damaging |
Het |
| Gucy2e |
A |
G |
11: 69,123,522 (GRCm39) |
I459T |
probably benign |
Het |
| Hpx |
A |
G |
7: 105,240,995 (GRCm39) |
I426T |
possibly damaging |
Het |
| Hspa9 |
T |
C |
18: 35,076,227 (GRCm39) |
T362A |
possibly damaging |
Het |
| Insr |
G |
A |
8: 3,205,976 (GRCm39) |
P1271L |
probably damaging |
Het |
| Jarid2 |
G |
A |
13: 45,055,777 (GRCm39) |
V328I |
possibly damaging |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kif18b |
A |
G |
11: 102,803,874 (GRCm39) |
S429P |
probably benign |
Het |
| Lats1 |
A |
T |
10: 7,581,672 (GRCm39) |
H819L |
probably damaging |
Het |
| Lmnb1 |
T |
A |
18: 56,873,858 (GRCm39) |
D421E |
possibly damaging |
Het |
| Lrp4 |
T |
C |
2: 91,322,960 (GRCm39) |
I1148T |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,569,332 (GRCm39) |
M1130L |
unknown |
Het |
| Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,196,137 (GRCm39) |
Y554C |
probably damaging |
Het |
| Myl4 |
T |
C |
11: 104,474,806 (GRCm39) |
F52L |
probably damaging |
Het |
| Nol12 |
C |
T |
15: 78,824,680 (GRCm39) |
T169I |
probably benign |
Het |
| Nrde2 |
C |
T |
12: 100,098,546 (GRCm39) |
R707H |
probably benign |
Het |
| Oasl1 |
G |
A |
5: 115,075,037 (GRCm39) |
V366M |
possibly damaging |
Het |
| Or8b47 |
T |
C |
9: 38,435,895 (GRCm39) |
I289T |
possibly damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Polrmt |
C |
T |
10: 79,574,157 (GRCm39) |
|
probably null |
Het |
| Ppil4 |
A |
G |
10: 7,686,174 (GRCm39) |
D344G |
probably null |
Het |
| Ppp2r3d |
C |
T |
9: 124,422,765 (GRCm38) |
A69T |
possibly damaging |
Het |
| Prmt3 |
C |
T |
7: 49,498,554 (GRCm39) |
P487S |
probably damaging |
Het |
| Ptprm |
A |
T |
17: 66,996,460 (GRCm39) |
L1209H |
probably damaging |
Het |
| Rnf115 |
G |
A |
3: 96,635,164 (GRCm39) |
|
probably benign |
Het |
| Sec63 |
A |
G |
10: 42,672,241 (GRCm39) |
D185G |
possibly damaging |
Het |
| Sema4b |
T |
C |
7: 79,874,706 (GRCm39) |
S699P |
probably damaging |
Het |
| Serpinb3d |
T |
G |
1: 107,006,089 (GRCm39) |
E333A |
probably damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,274,112 (GRCm39) |
L426P |
possibly damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,427,503 (GRCm39) |
I611M |
probably damaging |
Het |
| Stk31 |
T |
A |
6: 49,394,219 (GRCm39) |
Y194N |
probably damaging |
Het |
| Tlr9 |
G |
A |
9: 106,099,906 (GRCm39) |
|
probably null |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Vmn1r188 |
G |
A |
13: 22,272,256 (GRCm39) |
G70D |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,723,699 (GRCm39) |
M1901V |
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,578,649 (GRCm39) |
D821E |
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 |
|
|
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'- ATATTGATGCAGGGGCTGAAAC -3'
(R):5'- TTGGTCAGAAAATACAGTGTGTGG -3'
Sequencing Primer
(F):5'- TGCATGGCAGGCATTTTACAGAAC -3'
(R):5'- GTTTTGACAGTATACATTTGCAGGC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation