Mutagenetix > Incidental Mutation

Incidental Mutation 'R5567:Rnf43'

436946

Institutional Source

Beutler Lab

Gene Symbol

Rnf43

Ensembl Gene

ENSMUSG00000034177

Gene Name

ring finger protein 43

Synonyms

4732452J19Rik

MMRRC Submission

043124-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R5567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87553913-87626365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87618271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 187 (E187G)

Ref Sequence

ENSEMBL: ENSMUSP00000130685 (fasta)

Gene Model

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

AlphaFold

Q5NCP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040089
AA Change: E60G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044241
Gene: ENSMUSG00000034177
AA Change: E60G

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 damaging
Transcript: ENSMUST00000092800
AA Change: E187G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090476
Gene: ENSMUSG00000034177
AA Change: E187G

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 damaging
Transcript: ENSMUST00000121782
AA Change: E146G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112748
Gene: ENSMUSG00000034177
AA Change: E146G

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: ENSMUST00000162740

Predicted Effect

probably damaging
Transcript: ENSMUST00000165679
AA Change: E187G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130685
Gene: ENSMUSG00000034177
AA Change: E187G

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	C	T	6: 86,932,150 (GRCm39)	Q374*	probably null	Het
Adam19	A	G	11: 46,027,077 (GRCm39)	D570G	probably damaging	Het
Aqr	G	A	2: 113,979,451 (GRCm39)	T328M	probably damaging	Het
Bltp3b	T	A	10: 89,644,383 (GRCm39)	M29K	probably benign	Het
Boc	G	A	16: 44,313,187 (GRCm39)	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497 (GRCm38)	I876N	possibly damaging	Het
Cdh9	A	G	15: 16,855,930 (GRCm39)	T657A	probably damaging	Het
Cep104	T	C	4: 154,086,734 (GRCm39)	S794P	possibly damaging	Het
Cep72	T	C	13: 74,188,260 (GRCm39)	Q211R	probably benign	Het
Coq6	T	A	12: 84,415,413 (GRCm39)	D145E	probably benign	Het
Crym	T	C	7: 119,801,116 (GRCm39)	E11G	probably benign	Het
Csmd3	A	T	15: 47,508,864 (GRCm39)	M2907K	possibly damaging	Het
Cspg4	A	C	9: 56,793,932 (GRCm39)	I556L	probably benign	Het
Cwf19l2	T	A	9: 3,456,831 (GRCm39)	D721E	probably damaging	Het
Defb36	T	A	2: 152,454,503 (GRCm39)	V54E	probably damaging	Het
Dlg5	C	A	14: 24,242,981 (GRCm39)	E55*	probably null	Het
Dna2	G	T	10: 62,802,452 (GRCm39)	A857S	possibly damaging	Het
E330034G19Rik	A	G	14: 24,346,892 (GRCm39)	K60E	possibly damaging	Het
Eps8l2	G	A	7: 140,934,920 (GRCm39)	R76Q	possibly damaging	Het
Fbxl18	A	G	5: 142,881,022 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,444,044 (GRCm39)	C619*	probably null	Het
Ftcd	A	G	10: 76,423,967 (GRCm39)	K503E	probably benign	Het
Gbp2b	C	T	3: 142,317,126 (GRCm39)	A494V	possibly damaging	Het
Gfral	C	T	9: 76,115,900 (GRCm39)	A25T	probably benign	Het
Gins2	T	A	8: 121,315,684 (GRCm39)	D24V	possibly damaging	Het
Gm10985	T	C	3: 53,752,683 (GRCm39)	I22T	probably damaging	Het
Golga4	T	A	9: 118,387,251 (GRCm39)	S1458T	probably damaging	Het
Gpatch1	T	C	7: 35,006,640 (GRCm39)	K176R	probably damaging	Het
Gsto1	T	C	19: 47,846,338 (GRCm39)	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gxylt1	A	G	15: 93,152,180 (GRCm39)		probably null	Het
Hs6st1	C	T	1: 36,142,719 (GRCm39)	P218L	probably benign	Het
Itpr3	C	T	17: 27,322,880 (GRCm39)	T1119M	possibly damaging	Het
Kif5c	A	G	2: 49,620,211 (GRCm39)	D226G	possibly damaging	Het
Klk1b1	T	A	7: 43,620,593 (GRCm39)	S228T	probably damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Large1	A	G	8: 73,564,081 (GRCm39)	S562P	possibly damaging	Het
Lpxn	T	A	19: 12,810,023 (GRCm39)	M265K	possibly damaging	Het
Lrriq1	G	A	10: 103,006,457 (GRCm39)	P1223S	possibly damaging	Het
Map3k9	A	G	12: 81,778,798 (GRCm39)	L505P	possibly damaging	Het
Morn2	A	G	17: 80,604,709 (GRCm39)	D128G	probably damaging	Het
Msl2	A	G	9: 100,978,936 (GRCm39)	K437E	possibly damaging	Het
Msr1	T	C	8: 40,064,760 (GRCm39)	I305V	probably benign	Het
Muc4	A	G	16: 32,598,066 (GRCm39)	E3237G	possibly damaging	Het
Mxra8	T	C	4: 155,925,465 (GRCm39)	M58T	probably damaging	Het
Myo16	A	G	8: 10,372,676 (GRCm39)	D125G	probably damaging	Het
Myom2	A	G	8: 15,152,546 (GRCm39)	Q631R	probably benign	Het
Nlrp1b	T	A	11: 71,072,229 (GRCm39)	H538L	probably benign	Het
Nme3	T	A	17: 25,115,823 (GRCm39)		probably null	Het
Nop2	T	C	6: 125,110,726 (GRCm39)	S68P	probably benign	Het
Nploc4	C	T	11: 120,275,440 (GRCm39)	V499M	probably benign	Het
Nub1	A	G	5: 24,913,814 (GRCm39)	E565G	possibly damaging	Het
Or1e19	C	T	11: 73,316,272 (GRCm39)	C179Y	probably damaging	Het
Or6e1	A	G	14: 54,519,825 (GRCm39)	F176L	probably damaging	Het
Or7e168	A	G	9: 19,719,674 (GRCm39)	D20G	probably damaging	Het
Or9g3	G	A	2: 85,589,994 (GRCm39)	S242F	probably damaging	Het
Parl	A	G	16: 20,101,762 (GRCm39)	M90T	probably damaging	Het
Pelo	T	C	13: 115,226,152 (GRCm39)	I102V	probably benign	Het
Pigt	T	A	2: 164,343,482 (GRCm39)	Y319*	probably null	Het
Plb1	A	G	5: 32,521,543 (GRCm39)	T1465A	unknown	Het
Plxna4	T	C	6: 32,134,915 (GRCm39)	N1763D	possibly damaging	Het
Pmpca	A	G	2: 26,280,553 (GRCm39)	E133G	probably damaging	Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Qsox2	A	G	2: 26,115,230 (GRCm39)	M1T	probably null	Het
Ralb	C	T	1: 119,411,265 (GRCm39)	V25I	probably damaging	Het
Rbbp6	A	G	7: 122,601,057 (GRCm39)		probably benign	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Scap	A	G	9: 110,206,712 (GRCm39)	S386G	probably damaging	Het
Skint10	T	C	4: 112,573,067 (GRCm39)	Y243C	probably damaging	Het
Stpg2	A	G	3: 139,125,547 (GRCm39)	T447A	probably benign	Het
Tas1r1	G	A	4: 152,122,782 (GRCm39)	A21V	probably damaging	Het
Tas2r122	C	T	6: 132,688,335 (GRCm39)	G186E	probably benign	Het
Tenm4	C	A	7: 96,545,416 (GRCm39)	Y2477*	probably null	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Tmcc2	A	C	1: 132,285,543 (GRCm39)	S608A	probably benign	Het
Ttc41	T	C	10: 86,596,784 (GRCm39)		probably null	Het
Ttk	T	A	9: 83,744,588 (GRCm39)	N593K	possibly damaging	Het
Tulp1	A	G	17: 28,578,172 (GRCm39)	V289A	possibly damaging	Het
Unc93a2	T	C	17: 7,631,202 (GRCm39)	T456A	probably benign	Het
Usp34	A	C	11: 23,438,336 (GRCm39)	Q278P	probably damaging	Het
Vmn2r78	T	A	7: 86,570,737 (GRCm39)	D418E	probably benign	Het
Vmn2r90	C	T	17: 17,932,336 (GRCm39)	A81V	probably damaging	Het
Xpc	T	A	6: 91,475,117 (GRCm39)	N636I	probably damaging	Het
Zfp563	A	T	17: 33,308,431 (GRCm39)		probably benign	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
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
R8029:Rnf43	UTSW	11	87,622,720 (GRCm39)	missense	probably benign	0.06
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'- AGGATCGATCAGCTGCTGAG -3'
(R):5'- CAATCCCTTTGTGAGGTGGG -3'

Sequencing Primer
(F):5'- TGCTGAGCAGGTGCCTAG -3'
(R):5'- GTGCCATTAAACCACAGAGCTG -3'

Posted On

2016-10-24