Mutagenetix > Incidental Mutation

Incidental Mutation 'R8029:Rnf43'

617841

Institutional Source

Beutler Lab

Gene Symbol

Rnf43

Ensembl Gene

ENSMUSG00000034177

Gene Name

ring finger protein 43

Synonyms

4732452J19Rik

MMRRC Submission

067468-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87553913-87626365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87622720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 480 (L480H)

Ref Sequence

ENSEMBL: ENSMUSP00000044241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040089] [ENSMUST00000092800] [ENSMUST00000121782] [ENSMUST00000165679]

AlphaFold

Q5NCP0

Predicted Effect

probably benign
Transcript: ENSMUST00000040089
AA Change: L480H

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000044241
Gene: ENSMUSG00000034177
AA Change: L480H

Domain	Start	End	E-Value	Type
PDB:4KNG\|F	1	71	7e-32	PDB
transmembrane domain	72	91	N/A	INTRINSIC
RING	145	185	6.43e-8	SMART
low complexity region	337	351	N/A	INTRINSIC
low complexity region	366	376	N/A	INTRINSIC
low complexity region	420	431	N/A	INTRINSIC
low complexity region	491	516	N/A	INTRINSIC
low complexity region	646	654	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092800
AA Change: L607H

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000090476
Gene: ENSMUSG00000034177
AA Change: L607H

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
PDB:4KNG\|F	44	198	6e-93	PDB
transmembrane domain	199	218	N/A	INTRINSIC
RING	272	312	6.43e-8	SMART
low complexity region	464	478	N/A	INTRINSIC
low complexity region	493	503	N/A	INTRINSIC
low complexity region	547	558	N/A	INTRINSIC
low complexity region	618	643	N/A	INTRINSIC
low complexity region	773	781	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121782
AA Change: L566H

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112748
Gene: ENSMUSG00000034177
AA Change: L566H

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
PDB:4KNG\|F	44	157	6e-54	PDB
transmembrane domain	158	177	N/A	INTRINSIC
RING	231	271	6.43e-8	SMART
low complexity region	423	437	N/A	INTRINSIC
low complexity region	452	462	N/A	INTRINSIC
low complexity region	506	517	N/A	INTRINSIC
low complexity region	577	602	N/A	INTRINSIC
low complexity region	732	740	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165679
AA Change: L607H

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000130685
Gene: ENSMUSG00000034177
AA Change: L607H

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
PDB:4KNG\|F	44	198	6e-93	PDB
transmembrane domain	199	218	N/A	INTRINSIC
RING	272	312	6.43e-8	SMART
low complexity region	464	478	N/A	INTRINSIC
low complexity region	493	503	N/A	INTRINSIC
low complexity region	547	558	N/A	INTRINSIC
low complexity region	618	643	N/A	INTRINSIC
low complexity region	773	781	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This protein is thought to negatively regulate Wnt signaling, and expression of this gene results in an increase in ubiquitination of frizzled receptors, an alteration in their subcellular distribution, resulting in reduced surface levels of these receptors. Mutations in this gene have been reported in multiple tumor cells, including colorectal and endometrial cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,186,129 (GRCm39)	I118T	possibly damaging	Het
Alpk1	T	C	3: 127,522,934 (GRCm39)	D36G	possibly damaging	Het
Aox1	G	A	1: 58,382,827 (GRCm39)	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,619,163 (GRCm39)	L468P	probably damaging	Het
Armc2	A	T	10: 41,802,996 (GRCm39)	L559Q	probably damaging	Het
Asb3	A	T	11: 31,051,180 (GRCm39)	R506*	probably null	Het
Aspm	A	G	1: 139,399,370 (GRCm39)	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,300,564 (GRCm39)	R2099S	probably benign	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Cd34	A	C	1: 194,640,860 (GRCm39)	M242L	probably benign	Het
Cdh24	T	A	14: 54,876,856 (GRCm39)	N49I	probably damaging	Het
Ces2b	A	G	8: 105,561,482 (GRCm39)	N192S	probably damaging	Het
Chsy3	A	G	18: 59,312,519 (GRCm39)	I331V	possibly damaging	Het
Disp1	A	G	1: 182,870,852 (GRCm39)	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,653,897 (GRCm39)	H44R	probably benign	Het
Dnajc30	G	T	5: 135,093,186 (GRCm39)	A28S	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Exd1	A	T	2: 119,359,204 (GRCm39)	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944 (GRCm39)	V291E	possibly damaging	Het
Get3	T	C	8: 85,746,456 (GRCm39)	M131V	probably benign	Het
Gfi1b	A	T	2: 28,503,687 (GRCm39)		probably null	Het
Grk3	T	A	5: 113,109,508 (GRCm39)	I150L	probably benign	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Idua	T	C	5: 108,817,278 (GRCm39)	F17S	probably benign	Het
Ighg1	T	C	12: 113,292,765 (GRCm39)	K268R		Het
Lama1	G	T	17: 68,124,589 (GRCm39)	R2883M		Het
Lpar3	T	C	3: 145,946,718 (GRCm39)	M132T	probably benign	Het
Macf1	T	C	4: 123,338,685 (GRCm39)	T4351A	possibly damaging	Het
Marchf6	A	G	15: 31,496,148 (GRCm39)		probably null	Het
Mbtps1	C	A	8: 120,274,544 (GRCm39)		probably benign	Het
Mctp1	T	C	13: 77,178,005 (GRCm39)	Y931H	probably damaging	Het
Mug2	A	G	6: 122,058,504 (GRCm39)		probably null	Het
Myh1	G	T	11: 67,102,066 (GRCm39)		probably null	Het
Mylk2	T	C	2: 152,762,219 (GRCm39)	S497P	probably damaging	Het
Nectin4	A	G	1: 171,214,255 (GRCm39)	D470G	probably benign	Het
Nop2	C	T	6: 125,121,383 (GRCm39)	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,583,036 (GRCm39)	T626A	probably benign	Het
Nudt9	C	T	5: 104,198,477 (GRCm39)		probably benign	Het
Oplah	T	C	15: 76,189,896 (GRCm39)	Y143C	probably benign	Het
Or10a3m	T	A	7: 108,313,037 (GRCm39)	F159Y	possibly damaging	Het
Or12e10	A	G	2: 87,640,376 (GRCm39)	T71A	probably benign	Het
Or7e178	A	G	9: 20,225,643 (GRCm39)	F191S	possibly damaging	Het
Or7g20	T	C	9: 18,947,090 (GRCm39)	S224P	probably damaging	Het
Osbpl1a	T	G	18: 13,047,578 (GRCm39)	E125D	probably benign	Het
P2ry1	C	A	3: 60,910,943 (GRCm39)	N27K	possibly damaging	Het
Palld	A	T	8: 62,330,346 (GRCm39)	I177N	probably damaging	Het
Plcl1	A	T	1: 55,735,237 (GRCm39)	I193L	probably benign	Het
Polr1a	T	A	6: 71,889,940 (GRCm39)	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518 (GRCm39)	E531G	possibly damaging	Het
Prex1	C	A	2: 166,417,523 (GRCm39)	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,006,197 (GRCm39)	E795G	probably damaging	Het
Rars1	C	T	11: 35,711,992 (GRCm39)	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,590,997 (GRCm39)	V116A	possibly damaging	Het
Rttn	A	G	18: 89,108,598 (GRCm39)	T1601A	not run	Het
Setd1a	C	G	7: 127,385,386 (GRCm39)	Q698E	probably benign	Het
Sh3gl3	T	C	7: 81,920,091 (GRCm39)	Y100H	probably benign	Het
Sis	T	C	3: 72,828,475 (GRCm39)	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,169,885 (GRCm39)	H610P	probably damaging	Het
Spata31d1e	T	C	13: 59,890,191 (GRCm39)	H543R	possibly damaging	Het
Spdl1	T	C	11: 34,713,419 (GRCm39)	R217G	probably benign	Het
Spop	G	A	11: 95,365,193 (GRCm39)	E113K	probably benign	Het
Sult2a3	G	A	7: 13,855,553 (GRCm39)	P101L	probably damaging	Het
Tbl1xr1	C	T	3: 22,254,600 (GRCm39)	H348Y	probably damaging	Het
Tmie	T	C	9: 110,696,555 (GRCm39)	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,381,551 (GRCm39)	V140A	possibly damaging	Het
Ube2m	A	G	7: 12,770,524 (GRCm39)	L58P	probably damaging	Het
Urb1	A	G	16: 90,576,040 (GRCm39)	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,696,744 (GRCm39)	D221V	probably benign	Het
Vps41	C	T	13: 19,007,955 (GRCm39)	Q263*	probably null	Het
Zfand3	A	T	17: 30,354,407 (GRCm39)	T75S	probably benign	Het
Zscan26	A	G	13: 21,629,520 (GRCm39)	C202R	probably damaging	Het

Other mutations in Rnf43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:Rnf43	APN	11	87,622,718 (GRCm39)	missense	probably benign	0.15
IGL01520:Rnf43	APN	11	87,555,542 (GRCm39)	missense	probably damaging	1.00
IGL01541:Rnf43	APN	11	87,621,046 (GRCm39)	missense	probably null	1.00
IGL01784:Rnf43	APN	11	87,622,632 (GRCm39)	missense	possibly damaging	0.56
IGL02037:Rnf43	APN	11	87,622,479 (GRCm39)	missense	probably benign	0.00
IGL02725:Rnf43	APN	11	87,622,411 (GRCm39)	missense	probably damaging	1.00
IGL03062:Rnf43	APN	11	87,623,130 (GRCm39)	nonsense	probably null
R0226:Rnf43	UTSW	11	87,622,263 (GRCm39)	missense	probably damaging	1.00
R0391:Rnf43	UTSW	11	87,622,108 (GRCm39)	missense	possibly damaging	0.86
R0834:Rnf43	UTSW	11	87,622,077 (GRCm39)	missense	probably benign
R1163:Rnf43	UTSW	11	87,620,339 (GRCm39)	missense	probably damaging	0.98
R1203:Rnf43	UTSW	11	87,618,301 (GRCm39)	splice site	probably benign
R1314:Rnf43	UTSW	11	87,623,145 (GRCm39)	missense	probably benign
R1404:Rnf43	UTSW	11	87,625,003 (GRCm39)	missense	possibly damaging	0.82
R1404:Rnf43	UTSW	11	87,625,003 (GRCm39)	missense	possibly damaging	0.82
R1469:Rnf43	UTSW	11	87,622,233 (GRCm39)	missense	probably damaging	1.00
R1469:Rnf43	UTSW	11	87,622,233 (GRCm39)	missense	probably damaging	1.00
R1511:Rnf43	UTSW	11	87,622,173 (GRCm39)	missense	probably benign	0.00
R1513:Rnf43	UTSW	11	87,620,257 (GRCm39)	missense	probably damaging	1.00
R1614:Rnf43	UTSW	11	87,622,485 (GRCm39)	nonsense	probably null
R1615:Rnf43	UTSW	11	87,622,485 (GRCm39)	nonsense	probably null
R2341:Rnf43	UTSW	11	87,622,851 (GRCm39)	missense	probably damaging	0.96
R2410:Rnf43	UTSW	11	87,623,085 (GRCm39)	missense	possibly damaging	0.94
R2847:Rnf43	UTSW	11	87,623,093 (GRCm39)	missense	probably benign	0.04
R2849:Rnf43	UTSW	11	87,623,093 (GRCm39)	missense	probably benign	0.04
R5567:Rnf43	UTSW	11	87,618,271 (GRCm39)	missense	probably damaging	1.00
R5943:Rnf43	UTSW	11	87,622,561 (GRCm39)	missense	probably damaging	1.00
R6135:Rnf43	UTSW	11	87,622,951 (GRCm39)	missense	probably damaging	1.00
R6452:Rnf43	UTSW	11	87,623,079 (GRCm39)	missense	probably damaging	1.00
R6511:Rnf43	UTSW	11	87,622,989 (GRCm39)	missense	probably benign	0.01
R7426:Rnf43	UTSW	11	87,622,678 (GRCm39)	missense	probably benign	0.03
R7528:Rnf43	UTSW	11	87,622,954 (GRCm39)	missense	probably benign	0.00
R8167:Rnf43	UTSW	11	87,618,232 (GRCm39)	missense	probably benign	0.03
R8174:Rnf43	UTSW	11	87,622,057 (GRCm39)	missense	probably benign	0.39
R8498:Rnf43	UTSW	11	87,618,267 (GRCm39)	missense	probably damaging	1.00
R8905:Rnf43	UTSW	11	87,621,951 (GRCm39)	missense	probably damaging	1.00
R9214:Rnf43	UTSW	11	87,622,111 (GRCm39)	missense	probably benign	0.17
R9562:Rnf43	UTSW	11	87,618,891 (GRCm39)	missense	probably benign	0.03
X0064:Rnf43	UTSW	11	87,618,168 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- GGTTTCCAGCCACATACACTATCAC -3'
(R):5'- AGTGTGCACAGTCAAGTCCG -3'

Sequencing Primer
(F):5'- TACACTATCACCGGCACCG -3'
(R):5'- TCAAGTCCGGGGGCAGAG -3'

Posted On

2020-01-23