Mutagenetix > Incidental Mutation

Incidental Mutation 'R7278:Chfr'

571541

Institutional Source

Beutler Lab

Gene Symbol

Chfr

Ensembl Gene

ENSMUSG00000014668

Gene Name

checkpoint with forkhead and ring finger domains

Synonyms

5730484M20Rik, RNF116

MMRRC Submission

045360-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R7278 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110283708-110319838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110288226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 47 (D47G)

Ref Sequence

ENSEMBL: ENSMUSP00000108138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014812] [ENSMUST00000112519] [ENSMUST00000198066] [ENSMUST00000198633] [ENSMUST00000199283] [ENSMUST00000199557] [ENSMUST00000199672] [ENSMUST00000199811] [ENSMUST00000200038]

AlphaFold

Q810L3

Predicted Effect

probably benign
Transcript: ENSMUST00000014812
AA Change: D47G

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000014812
Gene: ENSMUSG00000014668
AA Change: D47G

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: D47G

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108138
Gene: ENSMUSG00000014668
AA Change: D47G

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

possibly damaging
Transcript: ENSMUST00000198633
AA Change: D47G

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143480
Gene: ENSMUSG00000014668
AA Change: D47G

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: ENSMUST00000199283

SMART Domains

Protein: ENSMUSP00000143389
Gene: ENSMUSG00000014668

Domain	Start	End	E-Value	Type
SCOP:d1lgpa_	14	50	7e-6	SMART
PDB:1LGQ\|B	16	50	8e-12	PDB

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199811
AA Change: D47G

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143737
Gene: ENSMUSG00000014668
AA Change: D47G

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
FHA	37	89	5.3e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200038

SMART Domains

Protein: ENSMUSP00000142354
Gene: ENSMUSG00000014668

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

0.1507

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (78/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,771,237 (GRCm39)	L142P	probably benign	Het
Abca13	A	T	11: 9,241,126 (GRCm39)	R996S	possibly damaging	Het
Abcb6	A	G	1: 75,151,017 (GRCm39)	F558L	possibly damaging	Het
Acp7	T	A	7: 28,330,307 (GRCm39)	D2V	unknown	Het
Acvr1c	T	C	2: 58,174,948 (GRCm39)	D280G	probably damaging	Het
Atp8a1	A	G	5: 67,781,380 (GRCm39)	S1124P		Het
B4galnt1	A	T	10: 127,003,657 (GRCm39)	T207S	probably benign	Het
C2cd4d	C	A	3: 94,271,445 (GRCm39)	T237N	probably benign	Het
C8b	T	C	4: 104,637,824 (GRCm39)	C99R	probably damaging	Het
Ccnk	C	A	12: 108,159,964 (GRCm39)	Q149K	possibly damaging	Het
Chid1	A	T	7: 141,109,401 (GRCm39)		probably null	Het
Cibar2	T	A	8: 120,895,342 (GRCm39)	T187S	possibly damaging	Het
Cmya5	T	A	13: 93,232,208 (GRCm39)	E960V	probably damaging	Het
Col18a1	A	G	10: 76,932,118 (GRCm39)	S112P	unknown	Het
Cps1	G	A	1: 67,210,080 (GRCm39)	V637I	probably damaging	Het
Crispld1	A	G	1: 17,823,102 (GRCm39)	T390A	probably benign	Het
Cyp2c54	A	T	19: 40,058,697 (GRCm39)	L245*	probably null	Het
Ddr2	G	T	1: 169,812,530 (GRCm39)	T654K	probably damaging	Het
Dnah10	T	C	5: 124,868,855 (GRCm39)		probably null	Het
Elavl4	C	T	4: 110,068,622 (GRCm39)		probably null	Het
Emilin1	T	C	5: 31,078,004 (GRCm39)	V921A	probably benign	Het
Evpl	T	A	11: 116,113,939 (GRCm39)	E1250D	probably damaging	Het
Fam228a	C	T	12: 4,782,790 (GRCm39)	G101E	probably benign	Het
Gemin4	T	C	11: 76,102,932 (GRCm39)	T610A	probably damaging	Het
Glis1	T	C	4: 107,292,880 (GRCm39)	M1T	probably null	Het
Gm14399	C	T	2: 174,972,252 (GRCm39)		probably benign	Het
Gorasp2	C	T	2: 70,509,849 (GRCm39)	T170I	probably damaging	Het
Gpr37	A	G	6: 25,669,341 (GRCm39)	V501A	possibly damaging	Het
Grik4	T	A	9: 42,533,356 (GRCm39)	Q388L	probably benign	Het
Hspg2	T	A	4: 137,278,436 (GRCm39)	D3035E	probably damaging	Het
Htr4	A	T	18: 62,545,247 (GRCm39)	N11Y	probably benign	Het
Itgb2l	A	G	16: 96,230,243 (GRCm39)	S356P	probably damaging	Het
Klk1b22	A	G	7: 43,764,173 (GRCm39)	N34D	probably benign	Het
Lmcd1	A	G	6: 112,287,500 (GRCm39)	D62G	possibly damaging	Het
Lrp2	C	T	2: 69,316,696 (GRCm39)	G2095E	probably damaging	Het
Macf1	T	A	4: 123,334,536 (GRCm39)	E4407V	possibly damaging	Het
Mcm5	T	C	8: 75,851,487 (GRCm39)	F631L	probably benign	Het
Mov10l1	A	G	15: 88,878,071 (GRCm39)	S170G	probably benign	Het
Muc5b	A	T	7: 141,411,239 (GRCm39)	D1395V	unknown	Het
Muc6	G	A	7: 141,226,842 (GRCm39)	T1395M	probably benign	Het
Myh15	A	G	16: 48,911,468 (GRCm39)	D300G	probably damaging	Het
Naa80	T	C	9: 107,460,498 (GRCm39)	L131P	probably damaging	Het
Ndst4	A	G	3: 125,231,952 (GRCm39)	T174A	probably benign	Het
Nek5	T	A	8: 22,580,500 (GRCm39)	N406I	probably benign	Het
Nr2c2	G	A	6: 92,136,359 (GRCm39)	V400I	probably damaging	Het
Or1l4	T	C	2: 37,092,092 (GRCm39)	Y280H	probably damaging	Het
Or1l4b	G	T	2: 37,037,021 (GRCm39)	V266L	probably benign	Het
Or51aa2	A	T	7: 103,187,935 (GRCm39)	Y169N	probably benign	Het
Or52m1	T	C	7: 102,290,190 (GRCm39)	S246P	probably damaging	Het
Or6b1	G	A	6: 42,811,330 (GRCm39)		probably null	Het
Or6c5c	T	A	10: 129,298,620 (GRCm39)	I25N	probably damaging	Het
Parn	T	C	16: 13,443,927 (GRCm39)		probably null	Het
Pfkl	T	C	10: 77,827,857 (GRCm39)	T468A	probably damaging	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Plce1	T	C	19: 38,768,340 (GRCm39)	I2205T	possibly damaging	Het
Prss16	A	T	13: 22,187,317 (GRCm39)	N442K	probably damaging	Het
Pus7	A	G	5: 23,957,342 (GRCm39)	S370P	probably damaging	Het
Ripk3	G	T	14: 56,024,741 (GRCm39)	Y210*	probably null	Het
Rps6ka2	C	A	17: 7,539,034 (GRCm39)	F317L	probably damaging	Het
Slc13a3	G	A	2: 165,287,448 (GRCm39)	R169W	possibly damaging	Het
Slc6a21	T	A	7: 44,931,904 (GRCm39)	I256N	possibly damaging	Het
Slc6a9	G	A	4: 117,725,303 (GRCm39)	R589Q	probably benign	Het
Slc8a2	T	C	7: 15,875,077 (GRCm39)	S442P	probably damaging	Het
Snupn	T	A	9: 56,890,028 (GRCm39)	M283K	probably damaging	Het
Steap3	A	T	1: 120,162,087 (GRCm39)	M395K	probably damaging	Het
Sv2b	G	A	7: 74,797,402 (GRCm39)	P331S	probably damaging	Het
Tlr1	A	G	5: 65,084,115 (GRCm39)	V154A	probably benign	Het
Tmem131	A	G	1: 36,835,382 (GRCm39)	S1580P	probably damaging	Het
Tmem51	TCCCC	TCCC	4: 141,764,996 (GRCm39)		probably null	Het
Trav14d-3-dv8	G	A	14: 53,316,218 (GRCm39)	R26H	probably benign	Het
Trp53	C	T	11: 69,482,081 (GRCm39)	L365F	probably benign	Het
Trp53bp1	A	T	2: 121,029,516 (GRCm39)	I1838N	probably damaging	Het
Ugt1a5	A	T	1: 88,094,608 (GRCm39)	K279*	probably null	Het
Unc80	A	G	1: 66,591,368 (GRCm39)	E1141G	possibly damaging	Het
Vti1b	T	C	12: 79,213,153 (GRCm39)	D49G	probably benign	Het
Wnt10a	A	T	1: 74,832,641 (GRCm39)	H78L	possibly damaging	Het
Zfp869	G	A	8: 70,159,128 (GRCm39)	H482Y	probably damaging	Het
Zfyve1	A	G	12: 83,598,314 (GRCm39)	V638A	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
R7166:Chfr	UTSW	5	110,306,671 (GRCm39)	missense	probably benign
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'- TACGATGAGATCTCCCAGGTG -3'
(R):5'- CAGATTAGATGTGGCTTCAGATGGG -3'

Sequencing Primer
(F):5'- TGACTGGGGTGAAGAAGGTTG -3'
(R):5'- TACAGGCTGAGAAAACCATAAGC -3'

Posted On

2019-09-13