Mutagenetix > Incidental Mutations

Incidental Mutation 'R1511:Rnf43'

168349

Institutional Source

Beutler Lab

Gene Symbol

Rnf43

Ensembl Gene

ENSMUSG00000034177

Gene Name

ring finger protein 43

Synonyms

MMRRC Submission

039558-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R1511 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

87662722-87735539 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87731347 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 384 (S384P)

Ref Sequence

ENSEMBL: ENSMUSP00000112748 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040089
AA Change: S298P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000044241
Gene: ENSMUSG00000034177
AA Change: S298P

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: S425P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000090476
Gene: ENSMUSG00000034177
AA Change: S425P

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: S384P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000112748
Gene: ENSMUSG00000034177
AA Change: S384P

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

noncoding transcript
Transcript: ENSMUST00000124625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162740

Predicted Effect

probably benign
Transcript: ENSMUST00000165679
AA Change: S425P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000130685
Gene: ENSMUSG00000034177
AA Change: S425P

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: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.7%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	C	A	5: 125,514,977	N576K	probably benign	Het
Abca5	G	T	11: 110,299,978	L769M	probably damaging	Het
Abca5	T	A	11: 110,299,986	H766L	possibly damaging	Het
Acvr1c	A	G	2: 58,287,884	I191T	probably damaging	Het
Agps	A	T	2: 75,866,779	E314D	probably damaging	Het
Agxt	G	A	1: 93,135,768	G131R	probably damaging	Het
Ak8	A	G	2: 28,742,746	T326A	probably benign	Het
Aldoart2	T	A	12: 55,566,277	I329N	probably benign	Het
Apaf1	T	C	10: 91,060,185	I342V	possibly damaging	Het
Arhgap40	T	C	2: 158,527,161	S68P	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
AU022252	C	T	4: 119,228,097	R71Q	possibly damaging	Het
Baz1b	T	C	5: 135,217,782	L695P	probably damaging	Het
Baz2b	A	T	2: 59,962,024	S587T	probably benign	Het
Cep76	T	C	18: 67,624,958	M421V	probably benign	Het
Clk2	A	G	3: 89,168,703	D60G	probably damaging	Het
Clstn3	G	T	6: 124,462,169	T6K	probably damaging	Het
Cluap1	T	A	16: 3,919,558	D180E	probably benign	Het
Col12a1	T	C	9: 79,699,552	I530V	probably benign	Het
Cpt1a	T	C	19: 3,365,788		probably benign	Het
Cr2	T	G	1: 195,155,272	K797Q	possibly damaging	Het
Crybg3	C	A	16: 59,554,112	V2260L	probably benign	Het
Csnk1a1	T	A	18: 61,585,250		probably benign	Het
Cxcr1	T	C	1: 74,192,770	D31G	probably benign	Het
Cyp2a5	G	T	7: 26,835,936	D108Y	probably damaging	Het
Dnajc1	A	G	2: 18,222,727	V376A	possibly damaging	Het
Eif4enif1	T	C	11: 3,236,278	V462A	probably benign	Het
Elmo1	A	G	13: 20,290,477	K357R	possibly damaging	Het
Eml6	T	A	11: 29,818,374	H771L	probably damaging	Het
Epb41l4a	A	G	18: 33,832,664	I370T	probably benign	Het
Esp36	A	T	17: 38,417,281	N79K	possibly damaging	Het
Fam229b	A	G	10: 39,118,919	*81Q	probably null	Het
Fat4	T	C	3: 38,983,076	Y3626H	probably damaging	Het
Fbn1	A	T	2: 125,306,285	F2681Y	probably benign	Het
Gad1-ps	A	G	10: 99,445,469		noncoding transcript	Het
Galm	C	A	17: 80,183,267	N284K	probably damaging	Het
Gtf3c2	A	T	5: 31,159,102	S735T	probably benign	Het
Hsph1	A	T	5: 149,630,383	S207T	probably benign	Het
Il33	C	T	19: 29,955,215	R159C	probably damaging	Het
Invs	A	G	4: 48,382,148	N106S	possibly damaging	Het
Kif21b	G	T	1: 136,169,324		probably null	Het
Kirrel2	A	G	7: 30,456,498	C42R	probably damaging	Het
Letm1	A	C	5: 33,752,555	C378W	probably damaging	Het
Lrrc71	T	A	3: 87,745,484	K160N	probably benign	Het
Lrrtm3	A	G	10: 64,089,025	I121T	probably damaging	Het
Lztr1	T	A	16: 17,509,670	V79E	probably damaging	Het
Mmp8	T	G	9: 7,566,278	D378E	probably damaging	Het
Mpzl3	A	G	9: 45,066,529	E145G	probably damaging	Het
Mrps2	C	T	2: 28,469,664	L178F	probably damaging	Het
Mzb1	A	G	18: 35,647,822		probably null	Het
Nckap1	T	C	2: 80,553,415	D135G	probably damaging	Het
Ndst1	A	G	18: 60,697,170	F623L	possibly damaging	Het
Nlrp5	A	T	7: 23,413,347	D143V	probably damaging	Het
Olfr1225	A	G	2: 89,170,937	S92P	probably damaging	Het
Olfr1241	T	C	2: 89,482,248	M296V	probably null	Het
Olfr1311	A	G	2: 112,021,404	V150A	probably benign	Het
Olfr146	T	C	9: 39,019,025	D172G	probably benign	Het
Olfr307	T	C	7: 86,336,345	D17G	possibly damaging	Het
Olfr32	A	G	2: 90,138,404	V245A	probably benign	Het
Olfr548-ps1	T	C	7: 102,542,125	L63P	probably damaging	Het
Olfr907	A	G	9: 38,498,818	I50V	probably benign	Het
Parp14	T	G	16: 35,857,224	E791D	probably benign	Het
Pcdh8	C	T	14: 79,769,389	R578H	possibly damaging	Het
Phrf1	T	A	7: 141,259,801		probably benign	Het
Polr3b	C	A	10: 84,680,385	H626N	probably benign	Het
Ppp1r12a	A	G	10: 108,251,859	T58A	probably benign	Het
Ppp4r3b	T	A	11: 29,182,460	V33D	probably damaging	Het
Ppp5c	A	G	7: 17,009,982	Y176H	probably damaging	Het
R3hdm1	A	G	1: 128,197,005	Y343C	probably damaging	Het
Rabac1	C	T	7: 24,972,130	V122M	probably damaging	Het
Rasef	G	T	4: 73,735,748	Q561K	probably damaging	Het
Rbl1	A	G	2: 157,195,634	S198P	probably damaging	Het
Rbm12	A	T	2: 156,097,536	M272K	probably damaging	Het
Rexo1	T	G	10: 80,550,050	K391N	possibly damaging	Het
Rpsa	A	T	9: 120,131,000	I210F	possibly damaging	Het
Rslcan18	A	G	13: 67,098,952	Y75H	possibly damaging	Het
Scn9a	T	A	2: 66,526,813	D1048V	probably benign	Het
Sec11a	T	C	7: 80,927,734		probably null	Het
Sidt2	A	G	9: 45,950,089	V19A	probably damaging	Het
Snx14	G	A	9: 88,398,364	Q522*	probably null	Het
Stx1b	A	G	7: 127,814,972	L74S	probably damaging	Het
Tm7sf3	A	T	6: 146,609,878	M371K	probably benign	Het
Tmem115	T	C	9: 107,534,975	V166A	probably benign	Het
Traf5	T	A	1: 191,999,951	T310S	probably benign	Het
Trdn	A	G	10: 33,466,452	K619E	probably benign	Het
Trmt10a	T	A	3: 138,152,184		probably null	Het
Txk	A	C	5: 72,707,671	I287R	probably damaging	Het
Txndc16	T	C	14: 45,151,887	D452G	probably damaging	Het
Ube2f	G	A	1: 91,262,301		probably null	Het
Ubtfl1	T	G	9: 18,410,193	I339R	probably benign	Het
Upf1	A	G	8: 70,338,505	I529T	probably damaging	Het
Vmn1r197	A	G	13: 22,328,653	D248G	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,786	T149S	probably benign	Het
Vmn1r83	C	T	7: 12,321,270	V287I	possibly damaging	Het
Vmn2r118	G	A	17: 55,608,496	R485*	probably null	Het
Vmn2r-ps130	A	G	17: 23,063,801	T152A	probably benign	Het
Vps13b	T	C	15: 35,839,975	F2448L	probably damaging	Het
Vps13b	A	G	15: 35,841,573	N2583S	probably benign	Het
Wscd1	C	T	11: 71,788,675	P458L	probably damaging	Het
Xylt2	T	A	11: 94,670,433	D168V	probably damaging	Het
Zdhhc2	A	G	8: 40,467,972	T306A	probably benign	Het
Zfp804b	A	T	5: 6,769,771	D1097E	possibly damaging	Het
Zfp93	T	A	7: 24,275,731	C380*	probably null	Het
Zfp960	T	A	17: 17,088,256	C411S	probably damaging	Het
Zmynd15	T	A	11: 70,464,793	V430E	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
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
R8029:Rnf43	UTSW	11	87731894	missense	probably benign	0.06
R8167:Rnf43	UTSW	11	87727406	missense	probably benign	0.03
R8174:Rnf43	UTSW	11	87731231	missense	probably benign	0.39
X0064:Rnf43	UTSW	11	87727342	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- TCTTACCAGGAACCAGGCAGAAGAC -3'
(R):5'- TTGACCACCGAGTCACTGGATGAG -3'

Sequencing Primer
(F):5'- GCCTTCCAGGACTTCAGTCG -3'
(R):5'- TCACTGGATGAGCCGTGAC -3'

Posted On

2014-04-13