Incidental Mutation 'R5490:Chfr'
| ID |
432035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chfr
|
| Ensembl Gene |
ENSMUSG00000014668 |
| Gene Name |
checkpoint with forkhead and ring finger domains |
| Synonyms |
5730484M20Rik, RNF116 |
| MMRRC Submission |
043051-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R5490 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
110283708-110319838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110300995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 299
(S299G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014812]
[ENSMUST00000112519]
[ENSMUST00000198066]
[ENSMUST00000198633]
[ENSMUST00000199557]
[ENSMUST00000199672]
|
| AlphaFold |
Q810L3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014812
AA Change: S371G
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000014812
Gene: ENSMUSG00000014668
AA Change: S371G
| 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 |
possibly damaging
Transcript: ENSMUST00000112519
AA Change: S371G
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000108138
Gene: ENSMUSG00000014668
AA Change: S371G
| 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: ENSMUST00000135366
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197010
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197968
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198066
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198633
AA Change: S299G
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143480
Gene: ENSMUSG00000014668
AA Change: S299G
| 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: ENSMUST00000200403
|
| 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: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.8%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
C |
T |
11: 84,401,099 (GRCm39) |
G174D |
probably damaging |
Het |
| Abcc1 |
G |
T |
16: 14,228,781 (GRCm39) |
G343C |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 80,780,646 (GRCm39) |
N370S |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,060,395 (GRCm39) |
E451G |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,994,733 (GRCm39) |
H658R |
possibly damaging |
Het |
| Cdca2 |
T |
C |
14: 67,917,733 (GRCm39) |
E555G |
possibly damaging |
Het |
| Eea1 |
A |
G |
10: 95,861,916 (GRCm39) |
E741G |
probably benign |
Het |
| Gapvd1 |
T |
C |
2: 34,583,445 (GRCm39) |
D1057G |
probably benign |
Het |
| Glyat |
C |
T |
19: 12,627,645 (GRCm39) |
T80M |
probably benign |
Het |
| Gpr87 |
T |
C |
3: 59,086,747 (GRCm39) |
S253G |
probably damaging |
Het |
| Hapstr1 |
T |
A |
16: 8,673,721 (GRCm39) |
V216E |
probably damaging |
Het |
| Hmgxb3 |
A |
G |
18: 61,296,049 (GRCm39) |
S320P |
probably damaging |
Het |
| Kcnq5 |
C |
T |
1: 21,549,692 (GRCm39) |
G345D |
probably damaging |
Het |
| Kif5c |
T |
C |
2: 49,648,870 (GRCm39) |
V938A |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Madd |
G |
T |
2: 91,000,980 (GRCm39) |
T467K |
possibly damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,455,890 (GRCm39) |
D706G |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,452,292 (GRCm39) |
H476R |
probably damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,666 (GRCm39) |
D146G |
probably damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,439,057 (GRCm39) |
S172P |
probably damaging |
Het |
| Nkx2-3 |
A |
T |
19: 43,601,093 (GRCm39) |
T52S |
probably benign |
Het |
| Nup210 |
C |
T |
6: 91,062,970 (GRCm39) |
V230I |
probably damaging |
Het |
| Or1j19 |
T |
A |
2: 36,677,193 (GRCm39) |
Y219N |
probably damaging |
Het |
| Or51f2 |
T |
C |
7: 102,527,100 (GRCm39) |
S258P |
probably damaging |
Het |
| Or5g9 |
G |
T |
2: 85,552,666 (GRCm39) |
A306S |
probably benign |
Het |
| Pepd |
A |
G |
7: 34,642,115 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
T |
A |
12: 76,484,760 (GRCm39) |
W238R |
probably damaging |
Het |
| Ppp1r36 |
G |
T |
12: 76,484,761 (GRCm39) |
W238L |
possibly damaging |
Het |
| Prpf6 |
T |
G |
2: 181,249,958 (GRCm39) |
D39E |
probably benign |
Het |
| Rassf5 |
T |
A |
1: 131,108,932 (GRCm39) |
Q163L |
possibly damaging |
Het |
| Rbm43 |
T |
A |
2: 51,815,607 (GRCm39) |
T205S |
probably benign |
Het |
| Relch |
T |
A |
1: 105,647,226 (GRCm39) |
V672D |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sds |
C |
A |
5: 120,621,715 (GRCm39) |
Q286K |
possibly damaging |
Het |
| Slc35a3 |
A |
T |
3: 116,474,839 (GRCm39) |
C184* |
probably null |
Het |
| Smg1 |
G |
A |
7: 117,738,659 (GRCm39) |
T3530I |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,470,214 (GRCm39) |
V591A |
probably benign |
Het |
| Stam2 |
T |
C |
2: 52,610,929 (GRCm39) |
D31G |
probably damaging |
Het |
| Star |
A |
G |
8: 26,299,945 (GRCm39) |
K96E |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,921,931 (GRCm39) |
L495P |
probably damaging |
Het |
| Tceanc2 |
A |
T |
4: 107,022,846 (GRCm39) |
M47K |
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,881,118 (GRCm39) |
L85P |
probably damaging |
Het |
| Tmem241 |
C |
T |
18: 12,176,320 (GRCm39) |
R116K |
probably benign |
Het |
| Yipf2 |
G |
A |
9: 21,503,487 (GRCm39) |
A20V |
probably benign |
Het |
| Zc3h4 |
T |
A |
7: 16,162,930 (GRCm39) |
D443E |
unknown |
Het |
| Zfp184 |
T |
A |
13: 22,142,747 (GRCm39) |
V151D |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,916,695 (GRCm39) |
Y517C |
probably damaging |
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 |
|
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'- ATGCCCTGAGCCATCATCTC -3'
(R):5'- TTTTCAGCCAGGCACAGGTC -3'
Sequencing Primer
(F):5'- TTCCTGGATGTAAGGCACACACAG -3'
(R):5'- GGTCTAACCTGATATCTGAGGATTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation