Mutagenetix > Incidental Mutations

Incidental Mutation 'R7422:Chfr'

605572

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

Is this an essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R7422 (G1)

Quality Score

163.009

Status

Validated

Chromosome

Chromosomal Location

110135842-110171972 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 110162705 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143480 (fasta)

Gene Model

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

AlphaFold

Q810L3

Predicted Effect

probably null
Transcript: ENSMUST00000014812

SMART Domains

Protein: ENSMUSP00000014812
Gene: ENSMUSG00000014668

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 null
Transcript: ENSMUST00000014812

SMART Domains

Protein: ENSMUSP00000014812
Gene: ENSMUSG00000014668

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 null
Transcript: ENSMUST00000112519

SMART Domains

Protein: ENSMUSP00000108138
Gene: ENSMUSG00000014668

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 null
Transcript: ENSMUST00000112519

SMART Domains

Protein: ENSMUSP00000108138
Gene: ENSMUSG00000014668

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 null
Transcript: ENSMUST00000198633

SMART Domains

Protein: ENSMUSP00000143480
Gene: ENSMUSG00000014668

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 null
Transcript: ENSMUST00000198633

SMART Domains

Protein: ENSMUSP00000143480
Gene: ENSMUSG00000014668

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

97% (98/101)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,881,059	C456S	probably damaging	Het
4930524J08Rik	T	C	5: 99,979,209		probably benign	Het
Adam28	T	G	14: 68,626,877	R492S	probably damaging	Het
Adarb2	G	A	13: 8,757,277	A705T	possibly damaging	Het
Adprhl1	T	C	8: 13,222,873	D1295G	probably benign	Het
Aldh3b3	A	G	19: 3,966,476	I365V	probably benign	Het
Aldh8a1	T	C	10: 21,389,097	F208L	possibly damaging	Het
Ap3b1	G	A	13: 94,528,165	V871I	unknown	Het
Apol7e	A	T	15: 77,714,352	R6*	probably null	Het
Arfgap3	T	C	15: 83,306,949	E456G	probably damaging	Het
Arhgef1	T	C	7: 24,916,036	L285P	probably benign	Het
Arhgef7	T	A	8: 11,800,861	C315S	probably benign	Het
Atp9a	A	T	2: 168,648,593	L829Q	probably damaging	Het
Babam2	T	A	5: 31,731,049		probably null	Het
Bptf	C	T	11: 107,060,558	R2185H	probably damaging	Het
Brd9	A	C	13: 73,954,578	M473L	probably benign	Het
C7	T	C	15: 5,012,056	H456R	probably benign	Het
Cabp7	C	A	11: 4,738,856	A205S	probably damaging	Het
Catsperb	A	G	12: 101,588,034	I662M	probably damaging	Het
Ccl21a	T	C	4: 42,773,906	M5V	probably benign	Het
Cdyl	G	T	13: 35,858,194	R405L	possibly damaging	Het
Cep89	T	C	7: 35,428,247	L538P	probably damaging	Het
Cercam	A	G	2: 29,872,880	M209V	possibly damaging	Het
Cntnap5c	T	A	17: 58,410,231	Y1269*	probably null	Het
Col6a2	G	T	10: 76,603,336	C833*	probably null	Het
Cpeb3	T	A	19: 37,174,500	I159F	probably benign	Het
Cplx2	G	A	13: 54,378,850	E24K	possibly damaging	Het
Ctsb	A	G	14: 63,142,303	T332A	probably benign	Het
Cyp2j12	T	A	4: 96,140,985	T20S	probably benign	Het
Dcst2	T	A	3: 89,366,686	H181Q	probably damaging	Het
Dnm1l	T	C	16: 16,318,474	I411V	probably benign	Het
Dock5	T	A	14: 67,809,030	I768F	probably benign	Het
Dpcr1	T	A	17: 35,638,420	T96S	probably benign	Het
Ecel1	A	G	1: 87,149,612	Y625H	probably damaging	Het
Efl1	T	G	7: 82,681,379	S253R	probably damaging	Het
Elmod1	T	A	9: 53,912,843	D287V	probably damaging	Het
Fam171a2	T	C	11: 102,438,665	S423G	probably benign	Het
Fbxo8	A	T	8: 56,569,282		probably null	Het
Flnc	G	T	6: 29,455,471	G2040W	probably damaging	Het
Fras1	C	T	5: 96,673,599	A1405V	probably benign	Het
Frem3	A	C	8: 80,615,763	I1562L	probably benign	Het
Fxr1	C	T	3: 34,049,220	A233V	probably damaging	Het
Helb	A	G	10: 120,108,894	F246L	probably damaging	Het
Hils1	A	G	11: 94,968,358	R160G	possibly damaging	Het
Hoxb6	G	T	11: 96,292,684		probably benign	Het
Hspa2	A	G	12: 76,406,110	E526G	probably damaging	Het
Hyal5	A	T	6: 24,875,984		probably benign	Het
Ints6	A	T	14: 62,704,775	V503E	probably benign	Het
Ints9	C	T	14: 65,032,298	T479I	possibly damaging	Het
Jag1	C	T	2: 137,085,055	R928H	probably benign	Het
Lman2	A	T	13: 55,351,525	I179N	probably damaging	Het
Lta	T	C	17: 35,203,829	S173G	probably benign	Het
Mki67	G	A	7: 135,698,370	P1645L	probably damaging	Het
Mrc2	A	T	11: 105,292,783		probably benign	Het
Muc4	T	A	16: 32,754,689	M1521K	probably benign	Het
Mylk3	T	G	8: 85,355,244	D438A	probably benign	Het
Myo7a	T	A	7: 98,051,626		probably null	Het
Nsmce4a	G	T	7: 130,533,817	Q342K	probably benign	Het
Olfr1232	T	A	2: 89,326,079	I34F	probably benign	Het
Olfr455	A	G	6: 42,538,119	I301T	possibly damaging	Het
Olfr484	A	G	7: 108,124,861	L134P	probably damaging	Het
Olfr808	A	T	10: 129,768,267	Y257F	possibly damaging	Het
Osbpl6	T	A	2: 76,593,386	F864L	probably damaging	Het
Pla2g4a	A	G	1: 149,932,687	S2P	probably benign	Het
Plce1	T	C	19: 38,651,885	L525P	probably damaging	Het
Por	A	T	5: 135,734,919	M667L	probably benign	Het
Psma4	T	C	9: 54,954,882	Y97H	probably benign	Het
Qtrt1	A	T	9: 21,412,457	H126L	probably benign	Het
Rab3a	A	T	8: 70,756,523	Y102F	possibly damaging	Het
Rnf212	T	A	5: 108,731,689	H87L	probably benign	Het
Rnf216	A	G	5: 143,090,836	S98P	probably benign	Het
Ryr1	G	T	7: 29,085,870	R1806S	probably benign	Het
Scgb1b3	A	T	7: 31,375,837	L37F	probably benign	Het
Sds	T	C	5: 120,479,189	S37P	probably damaging	Het
Senp6	A	G	9: 80,113,877	R280G	probably damaging	Het
She	T	A	3: 89,854,557	I441K	possibly damaging	Het
Slc6a20b	A	G	9: 123,607,617	S244P	possibly damaging	Het
Slc9a3	A	T	13: 74,150,885	Y141F	probably damaging	Het
Slco6c1	A	T	1: 97,081,482	H426Q	probably benign	Het
Smc2	C	A	4: 52,440,301	Q16K	probably benign	Het
Sphkap	A	C	1: 83,263,826	V1535G	probably benign	Het
Stard9	C	A	2: 120,702,152	N2963K	probably benign	Het
Sycp2	C	T	2: 178,394,151	A248T	probably damaging	Het
Taar8a	T	C	10: 24,076,864	L122P	probably damaging	Het
Tab1	T	A	15: 80,160,244	V491E	probably benign	Het
Tanc1	T	C	2: 59,806,344	M857T	probably benign	Het
Tcirg1	C	A	19: 3,899,008	R427L	possibly damaging	Het
Tmem109	A	C	19: 10,871,760	*244G	probably null	Het
Tox2	A	G	2: 163,321,515	Y136C		Het
Tubb1	T	C	2: 174,457,032	V169A	possibly damaging	Het
Ubr3	T	C	2: 69,953,542		probably null	Het
Vmn1r225	T	A	17: 20,502,797	F167I	probably benign	Het
Vmn2r65	A	C	7: 84,946,361	W372G	probably damaging	Het
Vps13a	A	T	19: 16,750,173	D188E	probably damaging	Het
Vsnl1	G	T	12: 11,326,438	Q149K	probably benign	Het
Wdr35	A	G	12: 9,004,105	N466S	probably benign	Het
Ywhae	T	A	11: 75,759,343	S210R	probably damaging	Het
Zfp28	T	A	7: 6,394,749	S728T	probably damaging	Het
Zfpm1	A	G	8: 122,336,959	D919G	unknown	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
R4371:Chfr	UTSW	5	110136168	missense	probably damaging	0.99
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
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
X0013:Chfr	UTSW	5	110151579	missense	probably benign	0.19
Z1176:Chfr	UTSW	5	110144895	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGATGCAGGGGCTGAAAC -3'
(R):5'- TTGGTCAGAAAATACAGTGTGTGG -3'

Sequencing Primer
(F):5'- CAGGGGCTGAAACTTGGGTC -3'
(R):5'- TTGACAGTATACATTTGCAGGC -3'

Posted On

2019-12-20