Incidental Mutation 'R9419:Chfr'
| ID |
712219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chfr
|
| Ensembl Gene |
ENSMUSG00000014668 |
| Gene Name |
checkpoint with forkhead and ring finger domains |
| Synonyms |
RNF116, 5730484M20Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.244)
|
| Stock # |
R9419 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110135842-110171972 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110169190 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 643
(T643I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014812]
[ENSMUST00000112519]
[ENSMUST00000198066]
[ENSMUST00000198633]
[ENSMUST00000199557]
|
| AlphaFold |
Q810L3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014812
AA Change: T642I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014812
Gene: ENSMUSG00000014668
AA Change: T642I
| 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: T643I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108138
Gene: ENSMUSG00000014668
AA Change: T643I
| 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 damaging
Transcript: ENSMUST00000198633
AA Change: T571I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143480
Gene: ENSMUSG00000014668
AA Change: T571I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700064H15Rik |
T |
C |
3: 19,628,521 (GRCm38) |
T30A |
unknown |
Het |
| A430089I19Rik |
G |
T |
5: 94,303,142 (GRCm38) |
P375H |
probably damaging |
Het |
| Abca12 |
A |
G |
1: 71,303,490 (GRCm38) |
Y944H |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,508,768 (GRCm38) |
N2869S |
probably benign |
Het |
| Ank1 |
C |
A |
8: 23,084,809 (GRCm38) |
Q140K |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,457,185 (GRCm38) |
M189K |
probably benign |
Het |
| Atp2b1 |
G |
T |
10: 99,001,316 (GRCm38) |
R539L |
possibly damaging |
Het |
| Camsap1 |
A |
G |
2: 25,955,292 (GRCm38) |
S152P |
|
Het |
| Catsperd |
A |
T |
17: 56,651,821 (GRCm38) |
I276L |
probably benign |
Het |
| Cbarp |
A |
G |
10: 80,132,027 (GRCm38) |
V460A |
probably damaging |
Het |
| Cd40 |
A |
T |
2: 165,062,242 (GRCm38) |
|
probably benign |
Het |
| Cdk11b |
A |
T |
4: 155,639,845 (GRCm38) |
T307S |
unknown |
Het |
| Cnbd1 |
T |
C |
4: 19,098,156 (GRCm38) |
Q88R |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm38) |
|
probably benign |
Het |
| Dusp27 |
T |
C |
1: 166,100,186 (GRCm38) |
Q619R |
probably damaging |
Het |
| Ghdc |
G |
T |
11: 100,770,255 (GRCm38) |
A28D |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,408,116 (GRCm38) |
H693R |
possibly damaging |
Het |
| Gm8251 |
T |
C |
1: 44,057,775 (GRCm38) |
I1388V |
probably benign |
Het |
| H2-M1 |
G |
T |
17: 36,670,339 (GRCm38) |
A268E |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,638,109 (GRCm38) |
N557D |
probably benign |
Het |
| Ighg2c |
A |
G |
12: 113,287,395 (GRCm38) |
|
probably benign |
Het |
| Il17ra |
C |
A |
6: 120,481,294 (GRCm38) |
Q469K |
possibly damaging |
Het |
| Ipo8 |
T |
A |
6: 148,784,566 (GRCm38) |
N809Y |
probably benign |
Het |
| Klra10 |
T |
A |
6: 130,279,472 (GRCm38) |
Q73L |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,479,760 (GRCm38) |
V3A |
unknown |
Het |
| Map3k9 |
T |
C |
12: 81,780,567 (GRCm38) |
Y103C |
probably damaging |
Het |
| Map4 |
T |
C |
9: 110,052,961 (GRCm38) |
S298P |
possibly damaging |
Het |
| Mtus2 |
T |
A |
5: 148,306,641 (GRCm38) |
N1254K |
probably damaging |
Het |
| Nap1l5 |
T |
A |
6: 58,906,967 (GRCm38) |
M1L |
probably benign |
Het |
| Nfxl1 |
G |
A |
5: 72,559,298 (GRCm38) |
|
probably benign |
Het |
| Nmd3 |
T |
C |
3: 69,736,016 (GRCm38) |
I227T |
probably benign |
Het |
| Olfr250 |
T |
G |
9: 38,367,866 (GRCm38) |
C97G |
probably damaging |
Het |
| Ptchd3 |
G |
A |
11: 121,841,530 (GRCm38) |
M415I |
possibly damaging |
Het |
| Rab28 |
A |
T |
5: 41,635,839 (GRCm38) |
S154R |
possibly damaging |
Het |
| Rin1 |
A |
G |
19: 5,053,707 (GRCm38) |
E567G |
probably damaging |
Het |
| Rrbp1 |
A |
C |
2: 143,969,516 (GRCm38) |
V806G |
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,803,905 (GRCm38) |
L326Q |
probably damaging |
Het |
| Serinc2 |
T |
C |
4: 130,255,522 (GRCm38) |
T296A |
probably damaging |
Het |
| Skint10 |
G |
A |
4: 112,715,784 (GRCm38) |
L272F |
probably damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,691,744 (GRCm38) |
A100T |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,929,914 (GRCm38) |
Q815R |
probably benign |
Het |
| Stat3 |
A |
G |
11: 100,893,912 (GRCm38) |
I576T |
probably benign |
Het |
| Stat3 |
A |
G |
11: 100,889,531 (GRCm38) |
M735T |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,205,071 (GRCm38) |
K5623E |
probably benign |
Het |
| Tas1r2 |
T |
C |
4: 139,659,725 (GRCm38) |
V165A |
possibly damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,596,782 (GRCm38) |
D165E |
probably benign |
Het |
| Tex2 |
G |
A |
11: 106,567,009 (GRCm38) |
Q532* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,688,381 (GRCm38) |
E1245G |
probably damaging |
Het |
|
| Other mutations in Chfr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01333:Chfr
|
APN |
5 |
110,143,573 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01479:Chfr
|
APN |
5 |
110,144,993 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02543:Chfr
|
APN |
5 |
110,143,547 (GRCm38) |
splice site |
probably null |
|
|
IGL02657:Chfr
|
APN |
5 |
110,154,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03057:Chfr
|
APN |
5 |
110,143,609 (GRCm38) |
missense |
probably benign |
0.14 |
|
PIT4445001:Chfr
|
UTSW |
5 |
110,151,677 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0938:Chfr
|
UTSW |
5 |
110,164,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1346:Chfr
|
UTSW |
5 |
110,140,447 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1561:Chfr
|
UTSW |
5 |
110,158,808 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1602:Chfr
|
UTSW |
5 |
110,151,665 (GRCm38) |
missense |
probably benign |
0.26 |
|
R1658:Chfr
|
UTSW |
5 |
110,153,169 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2134:Chfr
|
UTSW |
5 |
110,144,761 (GRCm38) |
splice site |
probably null |
|
|
R2234:Chfr
|
UTSW |
5 |
110,170,863 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4371:Chfr
|
UTSW |
5 |
110,136,168 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4420:Chfr
|
UTSW |
5 |
110,170,880 (GRCm38) |
nonsense |
probably null |
|
|
R4666:Chfr
|
UTSW |
5 |
110,144,867 (GRCm38) |
nonsense |
probably null |
|
|
R4742:Chfr
|
UTSW |
5 |
110,143,598 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4809:Chfr
|
UTSW |
5 |
110,158,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5490:Chfr
|
UTSW |
5 |
110,153,129 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5581:Chfr
|
UTSW |
5 |
110,153,282 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5820:Chfr
|
UTSW |
5 |
110,162,739 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6012:Chfr
|
UTSW |
5 |
110,144,651 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7128:Chfr
|
UTSW |
5 |
110,143,636 (GRCm38) |
missense |
probably benign |
0.33 |
|
R7166:Chfr
|
UTSW |
5 |
110,158,805 (GRCm38) |
missense |
probably benign |
|
|
R7278:Chfr
|
UTSW |
5 |
110,140,360 (GRCm38) |
missense |
probably benign |
0.23 |
|
R7393:Chfr
|
UTSW |
5 |
110,152,358 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7422:Chfr
|
UTSW |
5 |
110,162,705 (GRCm38) |
splice site |
probably null |
|
|
R7499:Chfr
|
UTSW |
5 |
110,151,683 (GRCm38) |
missense |
probably benign |
0.40 |
|
R8224:Chfr
|
UTSW |
5 |
110,160,243 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8264:Chfr
|
UTSW |
5 |
110,152,434 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8325:Chfr
|
UTSW |
5 |
110,162,763 (GRCm38) |
nonsense |
probably null |
|
|
R8333:Chfr
|
UTSW |
5 |
110,154,937 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8823:Chfr
|
UTSW |
5 |
110,152,392 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9024:Chfr
|
UTSW |
5 |
110,158,832 (GRCm38) |
missense |
probably benign |
0.26 |
|
X0013:Chfr
|
UTSW |
5 |
110,151,579 (GRCm38) |
missense |
probably benign |
0.19 |
|
Z1176:Chfr
|
UTSW |
5 |
110,144,895 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTACGTGGCAACTTATCTGAC -3'
(R):5'- TGAAGCCAGAACTTTGCATTTC -3'
Sequencing Primer
(F):5'- AAGCAGATCCCTAGGTTTGC -3'
(R):5'- AGCCAGAACTTTGCATTTCTACTAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation