Mutagenetix > Incidental Mutation

Incidental Mutation 'R0226:Rnf43'

33949

Institutional Source

Beutler Lab

Gene Symbol

Rnf43

Ensembl Gene

ENSMUSG00000034177

Gene Name

ring finger protein 43

Synonyms

4732452J19Rik

MMRRC Submission

038471-MU

Accession Numbers

Essential gene?

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

Stock #

R0226 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

87553913-87626365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87622263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 455 (S455C)

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: S328C

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

SMART Domains

Protein: ENSMUSP00000044241
Gene: ENSMUSG00000034177
AA Change: S328C

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: S455C

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

SMART Domains

Protein: ENSMUSP00000090476
Gene: ENSMUSG00000034177
AA Change: S455C

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: S414C

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

SMART Domains

Protein: ENSMUSP00000112748
Gene: ENSMUSG00000034177
AA Change: S414C

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 damaging
Transcript: ENSMUST00000165679
AA Change: S455C

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

SMART Domains

Protein: ENSMUSP00000130685
Gene: ENSMUSG00000034177
AA Change: S455C

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

Meta Mutation Damage Score

0.1022

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (98/98)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	T	14: 59,379,569 (GRCm39)	T54K	possibly damaging	Het
2210408I21Rik	A	T	13: 77,451,544 (GRCm39)	E876V	possibly damaging	Het
Aasdh	A	T	5: 77,049,849 (GRCm39)	L49Q	probably damaging	Het
Abca8b	T	C	11: 109,847,844 (GRCm39)		probably null	Het
Ablim1	A	T	19: 57,032,302 (GRCm39)	L556Q	probably damaging	Het
Afdn	A	G	17: 14,119,408 (GRCm39)	T1700A	probably benign	Het
Agl	G	A	3: 116,545,720 (GRCm39)	R1359C	probably damaging	Het
Agpat3	T	A	10: 78,113,863 (GRCm39)	H275L	possibly damaging	Het
Ahcyl1	A	T	3: 107,577,586 (GRCm39)	C180*	probably null	Het
Aim2	A	G	1: 173,289,899 (GRCm39)		probably benign	Het
Angpt1	T	C	15: 42,331,631 (GRCm39)	N320S	probably benign	Het
Ankrd52	T	A	10: 128,225,727 (GRCm39)		probably null	Het
Ap1g1	C	T	8: 110,581,694 (GRCm39)	S654L	probably benign	Het
Bpifa1	T	A	2: 153,987,977 (GRCm39)	S173R	probably benign	Het
Brd8	T	C	18: 34,736,947 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C1qtnf2	A	G	11: 43,381,670 (GRCm39)	T161A	probably benign	Het
Car6	T	C	4: 150,271,965 (GRCm39)	Y228C	probably damaging	Het
Ccdc149	A	G	5: 52,557,559 (GRCm39)	L273P	probably damaging	Het
Cit	G	A	5: 116,122,899 (GRCm39)	R1405Q	probably damaging	Het
Cox17	T	C	16: 38,169,638 (GRCm39)	L48P	probably damaging	Het
Cttn	A	G	7: 143,995,589 (GRCm39)		probably benign	Het
Cyp4f18	T	C	8: 72,743,619 (GRCm39)		probably benign	Het
Dtnbp1	A	G	13: 45,076,669 (GRCm39)	L175P	probably damaging	Het
Efl1	T	C	7: 82,342,219 (GRCm39)		probably benign	Het
Fbn1	C	T	2: 125,162,830 (GRCm39)	R2152Q	possibly damaging	Het
Fignl1	A	T	11: 11,751,061 (GRCm39)	S665T	probably benign	Het
Gm9843	A	T	16: 76,200,449 (GRCm39)		noncoding transcript	Het
Gpr155	C	T	2: 73,197,936 (GRCm39)	V395I	probably benign	Het
Greb1l	T	C	18: 10,522,076 (GRCm39)		probably benign	Het
Hdgfl1	A	T	13: 26,953,979 (GRCm39)	H31Q	probably benign	Het
Heatr1	T	C	13: 12,425,443 (GRCm39)	S628P	probably damaging	Het
Hivep2	A	G	10: 14,005,456 (GRCm39)	T685A	probably benign	Het
Hmgcl	T	G	4: 135,686,039 (GRCm39)	V168G	probably damaging	Het
Itch	T	C	2: 155,041,314 (GRCm39)	I454T	probably benign	Het
Itih2	T	C	2: 10,120,110 (GRCm39)	D309G	possibly damaging	Het
Kcmf1	T	C	6: 72,819,935 (GRCm39)	I304V	probably benign	Het
Kcnh1	G	A	1: 191,959,112 (GRCm39)	W222*	probably null	Het
Kcnh1	G	T	1: 191,959,113 (GRCm39)	W222C	probably damaging	Het
Kif24	T	A	4: 41,414,939 (GRCm39)	K287*	probably null	Het
Lrig3	A	G	10: 125,807,986 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,367,907 (GRCm39)	C202S	probably null	Het
Lrrc37	A	T	11: 103,494,067 (GRCm39)	F663L	probably benign	Het
Lrrn2	A	G	1: 132,865,558 (GRCm39)	N208D	probably damaging	Het
Mcm5	C	T	8: 75,852,880 (GRCm39)	T664I	possibly damaging	Het
Mfsd10	A	G	5: 34,791,790 (GRCm39)	L365S	probably benign	Het
Mfsd6	A	G	1: 52,697,849 (GRCm39)		probably benign	Het
Mgat4e	A	G	1: 134,468,841 (GRCm39)	V401A	probably benign	Het
Mllt3	C	A	4: 87,758,969 (GRCm39)	V360L	probably benign	Het
Mrm1	G	A	11: 84,709,996 (GRCm39)	A68V	possibly damaging	Het
Myo19	A	G	11: 84,788,558 (GRCm39)		probably benign	Het
Myo3b	A	G	2: 70,047,510 (GRCm39)	T311A	probably benign	Het
Myo5b	T	C	18: 74,875,251 (GRCm39)	F1552L	probably benign	Het
Myo7b	C	T	18: 32,105,949 (GRCm39)	V1353I	probably benign	Het
Myo9b	T	C	8: 71,806,476 (GRCm39)	S1512P	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Osbpl3	A	G	6: 50,329,988 (GRCm39)	W63R	probably damaging	Het
Pcdh17	T	C	14: 84,685,641 (GRCm39)	S703P	probably damaging	Het
Pclo	T	C	5: 14,815,237 (GRCm39)	I1231T	probably damaging	Het
Pex16	A	C	2: 92,206,032 (GRCm39)		probably benign	Het
Pfkl	T	C	10: 77,828,368 (GRCm39)	N399S	probably benign	Het
Pkhd1l1	G	A	15: 44,390,180 (GRCm39)	R1432K	possibly damaging	Het
Prdm1	T	A	10: 44,332,692 (GRCm39)	T106S	probably benign	Het
Prrc1	A	G	18: 57,496,363 (GRCm39)	M105V	probably benign	Het
Psg26	A	G	7: 18,217,883 (GRCm39)	C12R	possibly damaging	Het
Ryr2	T	C	13: 11,787,442 (GRCm39)	K977R	probably damaging	Het
Sart1	C	T	19: 5,431,150 (GRCm39)		probably benign	Het
Sec14l5	A	G	16: 4,998,167 (GRCm39)	S509G	probably benign	Het
Sin3b	A	T	8: 73,471,136 (GRCm39)	E361V	probably benign	Het
Slc35e3	C	T	10: 117,576,795 (GRCm39)	E179K	possibly damaging	Het
Sntb2	T	C	8: 107,728,215 (GRCm39)	S388P	probably damaging	Het
Srms	A	G	2: 180,854,175 (GRCm39)	S131P	probably benign	Het
Sting1	A	T	18: 35,872,141 (GRCm39)	F120L	probably benign	Het
Stxbp5	T	C	10: 9,742,442 (GRCm39)		probably benign	Het
Taar2	T	C	10: 23,816,961 (GRCm39)	V167A	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Thsd7a	A	G	6: 12,321,899 (GRCm39)	Y1516H	possibly damaging	Het
Tlk1	T	A	2: 70,544,513 (GRCm39)		probably benign	Het
Tnfaip3	T	C	10: 18,878,495 (GRCm39)	K771R	probably damaging	Het
Treml1	C	T	17: 48,667,486 (GRCm39)	L124F	probably damaging	Het
Ttn	G	T	2: 76,611,141 (GRCm39)	Q9137K	possibly damaging	Het
Unkl	T	A	17: 25,449,685 (GRCm39)	I469N	probably damaging	Het
Vmn1r173	G	T	7: 23,402,508 (GRCm39)	V248L	possibly damaging	Het
Vps35	T	C	8: 86,000,204 (GRCm39)	Q474R	probably damaging	Het
Wdr17	T	A	8: 55,116,043 (GRCm39)	T580S	probably benign	Het
Xpnpep1	T	C	19: 52,998,583 (GRCm39)	K222E	probably benign	Het
Ylpm1	A	G	12: 85,096,511 (GRCm39)	T1446A	probably benign	Het
Zfp277	A	G	12: 40,414,161 (GRCm39)	L228S	possibly damaging	Het
Zfp941	T	A	7: 140,393,188 (GRCm39)	K57M	probably damaging	Het
Zmpste24	A	T	4: 120,938,406 (GRCm39)	S244R	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
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
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'- TCTTACCAGGAACCAGGCAGAAGAC -3'
(R):5'- AAGGGGTCAAAGTCACTGCTCAGG -3'

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

Posted On

2013-05-09