Mutagenetix > Incidental Mutations

Incidental Mutation 'R8029:Rnf43'

617841

Institutional Source

Beutler Lab

Gene Symbol

Rnf43

Ensembl Gene

ENSMUSG00000034177

Gene Name

ring finger protein 43

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87662722-87735539 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87731894 bp

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]

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
1700014D04Rik	T	C	13: 59,742,377	H543R	possibly damaging	Het
Acvr1c	A	G	2: 58,296,117	I118T	possibly damaging	Het
Alpk1	T	C	3: 127,729,285	D36G	possibly damaging	Het
Aox2	G	A	1: 58,343,668	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,919,738	L468P	probably damaging	Het
Armc2	A	T	10: 41,927,000	L559Q	probably damaging	Het
Asb3	A	T	11: 31,101,180	R506*	probably null	Het
Asna1	T	C	8: 85,019,827	M131V	probably benign	Het
Aspm	A	G	1: 139,471,632	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,409,738	R2099S	probably benign	Het
Cd177	C	T	7: 24,756,169	W309*	probably null	Het
Cd34	A	C	1: 194,958,552	M242L	probably benign	Het
Cdh24	T	A	14: 54,639,399	N49I	probably damaging	Het
Ces2b	A	G	8: 104,834,850	N192S	probably damaging	Het
Chsy3	A	G	18: 59,179,447	I331V	possibly damaging	Het
Disp1	A	G	1: 183,089,288	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,416,440	H44R	probably benign	Het
Dnajc30	G	T	5: 135,064,332	A28S	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Exd1	A	T	2: 119,528,723	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944	V291E	possibly damaging	Het
Gfi1b	A	T	2: 28,613,675		probably null	Het
Grk3	T	A	5: 112,961,642	I150L	probably benign	Het
Gstcd	C	T	3: 133,082,107	V277M	probably damaging	Het
Idua	T	C	5: 108,669,412	F17S	probably benign	Het
Ighg1	T	C	12: 113,329,145	K268R		Het
Lama1	G	T	17: 67,817,594	R2883M		Het
Lpar3	T	C	3: 146,240,963	M132T	probably benign	Het
Macf1	T	C	4: 123,444,892	T4351A	possibly damaging	Het
March6	A	G	15: 31,496,002		probably null	Het
Mbtps1	C	A	8: 119,547,805		probably benign	Het
Mctp1	T	C	13: 77,029,886	Y931H	probably damaging	Het
Mug2	A	G	6: 122,081,545		probably null	Het
Myh1	G	T	11: 67,211,240		probably null	Het
Mylk2	T	C	2: 152,920,299	S497P	probably damaging	Het
Nectin4	A	G	1: 171,386,687	D470G	probably benign	Het
Nop2	C	T	6: 125,144,420	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,741,116	T626A	probably benign	Het
Nudt9	C	T	5: 104,050,611		probably benign	Het
Olfr1145	A	G	2: 87,810,032	T71A	probably benign	Het
Olfr18	A	G	9: 20,314,347	F191S	possibly damaging	Het
Olfr512	T	A	7: 108,713,830	F159Y	possibly damaging	Het
Olfr835	T	C	9: 19,035,794	S224P	probably damaging	Het
Oplah	T	C	15: 76,305,696	Y143C	probably benign	Het
Osbpl1a	T	G	18: 12,914,521	E125D	probably benign	Het
P2ry1	C	A	3: 61,003,522	N27K	possibly damaging	Het
Palld	A	T	8: 61,877,312	I177N	probably damaging	Het
Plcl1	A	T	1: 55,696,078	I193L	probably benign	Het
Polr1a	T	A	6: 71,912,956	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518	E531G	possibly damaging	Het
Prex1	C	A	2: 166,575,603	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,078,459	E795G	probably damaging	Het
Rars	C	T	11: 35,821,165	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,353,548	V116A	possibly damaging	Het
Rttn	A	G	18: 89,090,474	T1601A	not run	Het
Setd1a	C	G	7: 127,786,214	Q698E	probably benign	Het
Sh3gl3	T	C	7: 82,270,883	Y100H	probably benign	Het
Sis	T	C	3: 72,921,142	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,119,886	H610P	probably damaging	Het
Spdl1	T	C	11: 34,822,592	R217G	probably benign	Het
Spop	G	A	11: 95,474,367	E113K	probably benign	Het
Sult2a3	G	A	7: 14,121,628	P101L	probably damaging	Het
Tbl1xr1	C	T	3: 22,200,436	H348Y	probably damaging	Het
Tmie	T	C	9: 110,867,487	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,470,251	V140A	possibly damaging	Het
Ube2m	A	G	7: 13,036,597	L58P	probably damaging	Het
Urb1	A	G	16: 90,779,152	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,477,770	D221V	probably benign	Het
Vps41	C	T	13: 18,823,785	Q263*	probably null	Het
Zfand3	A	T	17: 30,135,433	T75S	probably benign	Het
Zscan26	A	G	13: 21,445,350	C202R	probably damaging	Het

Other mutations in Rnf43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:Rnf43	APN	11	87731892	missense	probably benign	0.15
IGL01520:Rnf43	APN	11	87664716	missense	probably damaging	1.00
IGL01541:Rnf43	APN	11	87730220	missense	probably null	1.00
IGL01784:Rnf43	APN	11	87731806	missense	possibly damaging	0.56
IGL02037:Rnf43	APN	11	87731653	missense	probably benign	0.00
IGL02725:Rnf43	APN	11	87731585	missense	probably damaging	1.00
IGL03062:Rnf43	APN	11	87732304	nonsense	probably null
R0226:Rnf43	UTSW	11	87731437	missense	probably damaging	1.00
R0391:Rnf43	UTSW	11	87731282	missense	possibly damaging	0.86
R0834:Rnf43	UTSW	11	87731251	missense	probably benign
R1163:Rnf43	UTSW	11	87729513	missense	probably damaging	0.98
R1203:Rnf43	UTSW	11	87727475	splice site	probably benign
R1314:Rnf43	UTSW	11	87732319	missense	probably benign
R1404:Rnf43	UTSW	11	87734177	missense	possibly damaging	0.82
R1404:Rnf43	UTSW	11	87734177	missense	possibly damaging	0.82
R1469:Rnf43	UTSW	11	87731407	missense	probably damaging	1.00
R1469:Rnf43	UTSW	11	87731407	missense	probably damaging	1.00
R1511:Rnf43	UTSW	11	87731347	missense	probably benign	0.00
R1513:Rnf43	UTSW	11	87729431	missense	probably damaging	1.00
R1614:Rnf43	UTSW	11	87731659	nonsense	probably null
R1615:Rnf43	UTSW	11	87731659	nonsense	probably null
R2341:Rnf43	UTSW	11	87732025	missense	probably damaging	0.96
R2410:Rnf43	UTSW	11	87732259	missense	possibly damaging	0.94
R2847:Rnf43	UTSW	11	87732267	missense	probably benign	0.04
R2849:Rnf43	UTSW	11	87732267	missense	probably benign	0.04
R5567:Rnf43	UTSW	11	87727445	missense	probably damaging	1.00
R5943:Rnf43	UTSW	11	87731735	missense	probably damaging	1.00
R6135:Rnf43	UTSW	11	87732125	missense	probably damaging	1.00
R6452:Rnf43	UTSW	11	87732253	missense	probably damaging	1.00
R6511:Rnf43	UTSW	11	87732163	missense	probably benign	0.01
R7426:Rnf43	UTSW	11	87731852	missense	probably benign	0.03
R7528:Rnf43	UTSW	11	87732128	missense	probably benign	0.00
R8167:Rnf43	UTSW	11	87727406	missense	probably benign	0.03
R8174:Rnf43	UTSW	11	87731231	missense	probably benign	0.39
R8498:Rnf43	UTSW	11	87727441	missense	probably damaging	1.00
R8905:Rnf43	UTSW	11	87731125	missense	probably damaging	1.00
X0064:Rnf43	UTSW	11	87727342	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