Incidental Mutation 'R7166:Chfr'
ID |
557931 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chfr
|
Ensembl Gene |
ENSMUSG00000014668 |
Gene Name |
checkpoint with forkhead and ring finger domains |
Synonyms |
5730484M20Rik, RNF116 |
MMRRC Submission |
045227-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.201)
|
Stock # |
R7166 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
110283708-110319838 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 110306671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 472
(P472Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108138
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014812]
[ENSMUST00000112519]
[ENSMUST00000198066]
[ENSMUST00000198633]
[ENSMUST00000199557]
[ENSMUST00000199672]
|
AlphaFold |
Q810L3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014812
AA Change: P471Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000014812 Gene: ENSMUSG00000014668 AA Change: P471Q
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: P472Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108138 Gene: ENSMUSG00000014668 AA Change: P472Q
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 benign
Transcript: ENSMUST00000198633
AA Change: P400Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000143480 Gene: ENSMUSG00000014668 AA Change: P400Q
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199672
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (52/53) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ambn |
T |
C |
5: 88,615,387 (GRCm39) |
L272P |
possibly damaging |
Het |
Ash2l |
C |
A |
8: 26,317,348 (GRCm39) |
G335V |
probably damaging |
Het |
Atp13a1 |
T |
A |
8: 70,251,966 (GRCm39) |
|
probably null |
Het |
Atp13a2 |
G |
A |
4: 140,734,295 (GRCm39) |
R1139Q |
possibly damaging |
Het |
Atxn2 |
T |
A |
5: 121,934,460 (GRCm39) |
N886K |
possibly damaging |
Het |
Celsr3 |
G |
T |
9: 108,720,150 (GRCm39) |
C2512F |
probably damaging |
Het |
Cfap221 |
A |
G |
1: 119,875,843 (GRCm39) |
V449A |
probably benign |
Het |
Cfhr2 |
A |
T |
1: 139,758,839 (GRCm39) |
C70* |
probably null |
Het |
Crybg2 |
G |
A |
4: 133,788,193 (GRCm39) |
R22Q |
probably damaging |
Het |
Eef2k |
T |
C |
7: 120,483,995 (GRCm39) |
F244L |
probably damaging |
Het |
Efcab11 |
A |
T |
12: 99,849,614 (GRCm39) |
M23K |
|
Het |
Eif4a3l2 |
A |
G |
6: 116,528,329 (GRCm39) |
I69V |
probably benign |
Het |
Ercc8 |
T |
A |
13: 108,305,967 (GRCm39) |
M114K |
possibly damaging |
Het |
Fam217a |
T |
C |
13: 35,094,298 (GRCm39) |
Y487C |
probably benign |
Het |
Farsb |
T |
C |
1: 78,447,821 (GRCm39) |
N205S |
probably benign |
Het |
Glra1 |
A |
G |
11: 55,405,904 (GRCm39) |
F370S |
probably benign |
Het |
Gm12258 |
T |
A |
11: 58,749,299 (GRCm39) |
M158K |
|
Het |
Gm14305 |
T |
A |
2: 176,412,736 (GRCm39) |
H209Q |
probably damaging |
Het |
Gm4924 |
A |
T |
10: 82,214,035 (GRCm39) |
Q611L |
unknown |
Het |
H4c11 |
A |
G |
13: 21,919,321 (GRCm39) |
H19R |
unknown |
Het |
Haus6 |
T |
C |
4: 86,501,924 (GRCm39) |
E649G |
possibly damaging |
Het |
Hlcs |
C |
T |
16: 94,063,585 (GRCm39) |
D345N |
possibly damaging |
Het |
Htt |
C |
A |
5: 35,010,238 (GRCm39) |
Q1564K |
probably benign |
Het |
Itpr1 |
G |
A |
6: 108,355,151 (GRCm39) |
V481I |
probably benign |
Het |
Jak3 |
T |
C |
8: 72,134,960 (GRCm39) |
I531T |
probably damaging |
Het |
Kng1 |
T |
A |
16: 22,898,428 (GRCm39) |
H609Q |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,746,446 (GRCm39) |
S4131T |
probably damaging |
Het |
Npnt |
A |
G |
3: 132,653,889 (GRCm39) |
S31P |
probably damaging |
Het |
Or1r1 |
A |
T |
11: 73,875,121 (GRCm39) |
F104L |
possibly damaging |
Het |
Or4c100 |
A |
T |
2: 88,355,990 (GRCm39) |
Q21L |
possibly damaging |
Het |
Or8h8 |
T |
A |
2: 86,753,092 (GRCm39) |
K261N |
probably damaging |
Het |
Paxx |
A |
T |
2: 25,350,238 (GRCm39) |
L123Q |
probably damaging |
Het |
Prdm13 |
C |
T |
4: 21,683,528 (GRCm39) |
R144Q |
unknown |
Het |
Rab2b |
C |
A |
14: 52,516,802 (GRCm39) |
|
probably benign |
Het |
Rnf207 |
A |
G |
4: 152,396,237 (GRCm39) |
I509T |
probably damaging |
Het |
Ropn1l |
T |
C |
15: 31,453,655 (GRCm39) |
Q12R |
|
Het |
Ryr3 |
T |
G |
2: 112,705,373 (GRCm39) |
Y847S |
probably damaging |
Het |
Slc1a6 |
A |
T |
10: 78,648,646 (GRCm39) |
T456S |
possibly damaging |
Het |
Slc26a2 |
A |
T |
18: 61,331,901 (GRCm39) |
M510K |
possibly damaging |
Het |
Slc5a9 |
T |
C |
4: 111,741,036 (GRCm39) |
T537A |
probably benign |
Het |
Slc9b2 |
T |
C |
3: 135,031,939 (GRCm39) |
Y132H |
unknown |
Het |
Sltm |
T |
C |
9: 70,492,132 (GRCm39) |
L725S |
probably damaging |
Het |
Spz1 |
A |
G |
13: 92,712,435 (GRCm39) |
C14R |
probably benign |
Het |
Srrm4 |
T |
A |
5: 116,609,301 (GRCm39) |
Q172L |
unknown |
Het |
Synj2bp |
T |
C |
12: 81,551,289 (GRCm39) |
D92G |
probably benign |
Het |
Tmem169 |
A |
C |
1: 72,340,229 (GRCm39) |
T220P |
probably benign |
Het |
Ttn |
T |
A |
2: 76,718,372 (GRCm39) |
I7270F |
unknown |
Het |
Txndc16 |
T |
G |
14: 45,420,611 (GRCm39) |
N137H |
probably benign |
Het |
Ubr5 |
A |
G |
15: 37,976,389 (GRCm39) |
Y2499H |
|
Het |
Ugt2b38 |
T |
C |
5: 87,558,305 (GRCm39) |
D452G |
probably damaging |
Het |
Zfp12 |
T |
A |
5: 143,231,257 (GRCm39) |
I560N |
possibly damaging |
Het |
Zfp60 |
A |
G |
7: 27,448,937 (GRCm39) |
K535R |
possibly damaging |
Het |
Zfp960 |
T |
A |
17: 17,308,761 (GRCm39) |
C492S |
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 |
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 |
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'- AGCTGGCCTGAATTCTTGTG -3'
(R):5'- AGAAGAGCTCCATGTGTGTTGC -3'
Sequencing Primer
(F):5'- GCCTGAATTCTTGTGTTTCAAATAGC -3'
(R):5'- GTTTTGCAGCACTAGGAATGAAACC -3'
|
Posted On |
2019-06-26 |