Incidental Mutation 'R4371:Chfr'
| ID |
325992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chfr
|
| Ensembl Gene |
ENSMUSG00000014668 |
| Gene Name |
checkpoint with forkhead and ring finger domains |
| Synonyms |
RNF116, 5730484M20Rik |
| MMRRC Submission |
041117-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R4371 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110135842-110171972 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110136168 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 36
(R36H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014812]
[ENSMUST00000112519]
[ENSMUST00000198066]
[ENSMUST00000198633]
[ENSMUST00000199283]
[ENSMUST00000199557]
[ENSMUST00000199672]
[ENSMUST00000199811]
[ENSMUST00000200038]
|
| AlphaFold |
Q810L3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014812
AA Change: R36H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000014812
Gene: ENSMUSG00000014668
AA Change: R36H
| 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: R36H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108138
Gene: ENSMUSG00000014668
AA Change: R36H
| 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 |
possibly damaging
Transcript: ENSMUST00000198066
AA Change: R36H
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198633
AA Change: R36H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143480
Gene: ENSMUSG00000014668
AA Change: R36H
| 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 |
possibly damaging
Transcript: ENSMUST00000199283
AA Change: R36H
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143389
Gene: ENSMUSG00000014668
AA Change: R36H
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lgpa_
|
14 |
50 |
7e-6 |
SMART |
|
PDB:1LGQ|B
|
16 |
50 |
8e-12 |
PDB |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000199557
AA Change: R36H
|
| SMART Domains |
Protein: ENSMUSP00000143113
Gene: ENSMUSG00000014668
AA Change: R36H
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lgpa_
|
14 |
44 |
4e-5 |
SMART |
|
PDB:1LGQ|B
|
16 |
44 |
1e-10 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199672
AA Change: R36H
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199811
AA Change: R36H
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143737
Gene: ENSMUSG00000014668
AA Change: R36H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
FHA
|
37 |
89 |
5.3e-9 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000200038
AA Change: R36H
|
| SMART Domains |
Protein: ENSMUSP00000142354
Gene: ENSMUSG00000014668
AA Change: R36H
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lgpa_
|
14 |
44 |
5e-5 |
SMART |
|
PDB:1LGQ|B
|
16 |
46 |
2e-11 |
PDB |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg11 |
C |
A |
8: 22,068,079 |
A469E |
probably benign |
Het |
| Alox12b |
G |
A |
11: 69,169,616 |
R666H |
possibly damaging |
Het |
| Atp9a |
T |
C |
2: 168,649,615 |
T677A |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,274,043 |
H196N |
probably damaging |
Het |
| Bckdk |
C |
T |
7: 127,906,419 |
A238V |
probably benign |
Het |
| Brpf3 |
C |
T |
17: 28,836,620 |
A1181V |
probably damaging |
Het |
| C9 |
A |
G |
15: 6,491,484 |
D470G |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,287,963 |
F337L |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,613,047 |
R278W |
probably damaging |
Het |
| Cfb |
T |
C |
17: 34,860,314 |
K287R |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 32,909,258 |
N261S |
probably benign |
Het |
| Drp2 |
A |
T |
X: 134,435,135 |
|
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,943,455 |
|
probably null |
Het |
| Emb |
A |
T |
13: 117,268,930 |
D296V |
probably damaging |
Het |
| Epha1 |
T |
C |
6: 42,365,457 |
Y319C |
probably damaging |
Het |
| Flcn |
C |
T |
11: 59,803,784 |
V121I |
possibly damaging |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,503,275 |
|
probably benign |
Het |
| Gm6177 |
A |
T |
1: 160,893,171 |
|
noncoding transcript |
Het |
| Hepacam2 |
A |
T |
6: 3,486,988 |
V123E |
probably damaging |
Het |
| Iqsec1 |
A |
G |
6: 90,694,606 |
S194P |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 22,911,929 |
I438T |
possibly damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,156,102 |
|
probably null |
Het |
| Nbeal1 |
A |
T |
1: 60,289,946 |
K2174N |
possibly damaging |
Het |
| Ncapg |
G |
A |
5: 45,678,455 |
M409I |
probably benign |
Het |
| Ocstamp |
A |
G |
2: 165,397,313 |
S318P |
possibly damaging |
Het |
| Olfr507 |
C |
T |
7: 108,621,889 |
L26F |
probably benign |
Het |
| Phactr2 |
A |
G |
10: 13,253,820 |
S235P |
probably damaging |
Het |
| Pom121l2 |
T |
C |
13: 21,982,239 |
S227P |
probably benign |
Het |
| Sdf2 |
C |
T |
11: 78,251,037 |
T66I |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 120,065,994 |
C729R |
probably damaging |
Het |
| Sys1 |
T |
C |
2: 164,461,395 |
W10R |
probably damaging |
Het |
| Tfap4 |
A |
G |
16: 4,551,999 |
I4T |
probably damaging |
Het |
| Thrb |
C |
A |
14: 18,030,275 |
Q340K |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,970,351 |
Y1735C |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,895,066 |
|
probably null |
Het |
|
| Other mutations in Chfr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01333:Chfr
|
APN |
5 |
110143573 |
missense |
possibly damaging |
0.94 |
|
IGL01479:Chfr
|
APN |
5 |
110144993 |
unclassified |
probably benign |
|
|
IGL02543:Chfr
|
APN |
5 |
110143547 |
splice site |
probably null |
|
|
IGL02657:Chfr
|
APN |
5 |
110154839 |
missense |
probably damaging |
1.00 |
|
IGL03057:Chfr
|
APN |
5 |
110143609 |
missense |
probably benign |
0.14 |
|
PIT4445001:Chfr
|
UTSW |
5 |
110151677 |
missense |
possibly damaging |
0.88 |
|
R0938:Chfr
|
UTSW |
5 |
110164058 |
missense |
probably damaging |
1.00 |
|
R1346:Chfr
|
UTSW |
5 |
110140447 |
missense |
probably damaging |
1.00 |
|
R1561:Chfr
|
UTSW |
5 |
110158808 |
missense |
probably benign |
0.05 |
|
R1602:Chfr
|
UTSW |
5 |
110151665 |
missense |
probably benign |
0.26 |
|
R1658:Chfr
|
UTSW |
5 |
110153169 |
missense |
probably damaging |
1.00 |
|
R2134:Chfr
|
UTSW |
5 |
110144761 |
splice site |
probably null |
|
|
R2234:Chfr
|
UTSW |
5 |
110170863 |
missense |
probably damaging |
1.00 |
|
R4420:Chfr
|
UTSW |
5 |
110170880 |
nonsense |
probably null |
|
|
R4666:Chfr
|
UTSW |
5 |
110144867 |
nonsense |
probably null |
|
|
R4742:Chfr
|
UTSW |
5 |
110143598 |
missense |
probably benign |
0.04 |
|
R4809:Chfr
|
UTSW |
5 |
110158834 |
missense |
probably damaging |
1.00 |
|
R5490:Chfr
|
UTSW |
5 |
110153129 |
missense |
possibly damaging |
0.88 |
|
R5581:Chfr
|
UTSW |
5 |
110153282 |
critical splice donor site |
probably null |
|
|
R5820:Chfr
|
UTSW |
5 |
110162739 |
missense |
possibly damaging |
0.94 |
|
R6012:Chfr
|
UTSW |
5 |
110144651 |
critical splice donor site |
probably null |
|
|
R7128:Chfr
|
UTSW |
5 |
110143636 |
missense |
probably benign |
0.33 |
|
R7166:Chfr
|
UTSW |
5 |
110158805 |
missense |
probably benign |
|
|
R7278:Chfr
|
UTSW |
5 |
110140360 |
missense |
probably benign |
0.23 |
|
R7393:Chfr
|
UTSW |
5 |
110152358 |
missense |
probably damaging |
0.98 |
|
R7422:Chfr
|
UTSW |
5 |
110162705 |
splice site |
probably null |
|
|
R7499:Chfr
|
UTSW |
5 |
110151683 |
missense |
probably benign |
0.40 |
|
R8224:Chfr
|
UTSW |
5 |
110160243 |
critical splice donor site |
probably null |
|
|
R8264:Chfr
|
UTSW |
5 |
110152434 |
missense |
possibly damaging |
0.86 |
|
R8325:Chfr
|
UTSW |
5 |
110162763 |
nonsense |
probably null |
|
|
R8333:Chfr
|
UTSW |
5 |
110154937 |
missense |
probably benign |
0.05 |
|
R8823:Chfr
|
UTSW |
5 |
110152392 |
missense |
probably damaging |
0.96 |
|
R9024:Chfr
|
UTSW |
5 |
110158832 |
missense |
probably benign |
0.26 |
|
R9419:Chfr
|
UTSW |
5 |
110169190 |
missense |
probably damaging |
1.00 |
|
X0013:Chfr
|
UTSW |
5 |
110151579 |
missense |
probably benign |
0.19 |
|
Z1176:Chfr
|
UTSW |
5 |
110144895 |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTACCCGAGATGTCTGTTG -3'
(R):5'- TCTAAACCCACTCTGACTAGGTC -3'
Sequencing Primer
(F):5'- ACTGTAAGGCCGGTTCCG -3'
(R):5'- GACTAGGTCTTCGATCCTGTTCTAG -3'
|
| Posted On |
2015-07-06 |
