Mutagenetix > Incidental Mutation

Incidental Mutation 'R1163:Rnf43'

100665

Institutional Source

Beutler Lab

Gene Symbol

Rnf43

Ensembl Gene

ENSMUSG00000034177

Gene Name

ring finger protein 43

Synonyms

4732452J19Rik

MMRRC Submission

039236-MU

Accession Numbers

Essential gene?

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

Stock #

R1163 (G1)

Quality Score

162

Status

Not validated

Chromosome

Chromosomal Location

87553913-87626365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 87620339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 226 (S226R)

Ref Sequence

ENSEMBL: ENSMUSP00000112748 (fasta)

Gene Model

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

AlphaFold

Q5NCP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040089
AA Change: S140R

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044241
Gene: ENSMUSG00000034177
AA Change: S140R

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: S267R

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090476
Gene: ENSMUSG00000034177
AA Change: S267R

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: S226R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112748
Gene: ENSMUSG00000034177
AA Change: S226R

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: S267R

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130685
Gene: ENSMUSG00000034177
AA Change: S267R

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: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	A	10: 86,957,284 (GRCm39)	Y7N	probably damaging	Het
4930579F01Rik	T	G	3: 137,882,271 (GRCm39)	D18A	probably damaging	Het
Abca8a	T	C	11: 109,962,356 (GRCm39)	D499G	probably benign	Het
Adamts1	G	C	16: 85,599,525 (GRCm39)	A25G	probably benign	Het
Adamts2	A	T	11: 50,670,541 (GRCm39)	I552F	probably damaging	Het
Akap3	A	G	6: 126,841,750 (GRCm39)	D123G	probably damaging	Het
Ankar	C	T	1: 72,727,864 (GRCm39)	V350I	possibly damaging	Het
Apob	A	G	12: 8,061,654 (GRCm39)	T3379A	probably damaging	Het
Ash1l	G	T	3: 88,942,570 (GRCm39)		probably null	Het
Atp2b1	T	C	10: 98,815,713 (GRCm39)	I119T	possibly damaging	Het
B3gnt2	A	T	11: 22,786,558 (GRCm39)	M210K	probably benign	Het
Bcl11a	A	G	11: 24,115,143 (GRCm39)	N829D	probably benign	Het
Btnl4	T	C	17: 34,689,049 (GRCm39)	E337G	possibly damaging	Het
Casr	A	T	16: 36,315,169 (GRCm39)	V967D	probably damaging	Het
Cd200	A	T	16: 45,212,715 (GRCm39)	V244D	probably damaging	Het
Cd200r4	A	G	16: 44,658,383 (GRCm39)	N256D	probably benign	Het
Cep68	A	G	11: 20,190,539 (GRCm39)	S158P	probably damaging	Het
Chst10	A	T	1: 38,910,783 (GRCm39)	V123D	probably damaging	Het
Cobll1	T	C	2: 64,928,623 (GRCm39)	H938R	probably damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dmkn	T	G	7: 30,464,476 (GRCm39)	C205G	probably damaging	Het
Dock8	A	G	19: 25,028,867 (GRCm39)	I24V	probably benign	Het
Dpp3	C	T	19: 4,964,951 (GRCm39)	W488*	probably null	Het
Dpp9	C	A	17: 56,506,426 (GRCm39)	A365S	possibly damaging	Het
Egfr	A	T	11: 16,833,546 (GRCm39)	T605S	probably benign	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Fam83g	T	C	11: 61,594,262 (GRCm39)	S599P	probably damaging	Het
Fscn1	G	T	5: 142,946,598 (GRCm39)	W132L	probably damaging	Het
Gbp2b	A	G	3: 142,304,857 (GRCm39)	T98A	probably damaging	Het
Gm4922	C	T	10: 18,659,469 (GRCm39)	A418T	possibly damaging	Het
Golgb1	G	T	16: 36,736,488 (GRCm39)	V1912L	possibly damaging	Het
Gon4l	T	C	3: 88,799,842 (GRCm39)	L829P	probably damaging	Het
Grm3	T	A	5: 9,620,738 (GRCm39)	I169L	probably benign	Het
Gsdma2	A	G	11: 98,541,684 (GRCm39)	D137G	probably damaging	Het
Hhip	T	C	8: 80,719,105 (GRCm39)	Y474C	probably damaging	Het
Hsph1	A	T	5: 149,554,266 (GRCm39)	V163E	probably damaging	Het
Ifi203	T	C	1: 173,751,703 (GRCm39)	K373E	probably damaging	Het
Itsn2	A	G	12: 4,762,009 (GRCm39)	T1540A	probably benign	Het
Kdm1b	T	C	13: 47,225,398 (GRCm39)	V527A	probably benign	Het
Kdm5d	G	A	Y: 898,029 (GRCm39)	A22T	probably benign	Het
Khdrbs1	A	T	4: 129,619,379 (GRCm39)	F254Y	possibly damaging	Het
Kif26a	T	C	12: 112,146,379 (GRCm39)	F1822L	probably benign	Het
Krt1	C	A	15: 101,756,600 (GRCm39)	E308*	probably null	Het
Lrrc47	T	A	4: 154,096,274 (GRCm39)	M1K	probably null	Het
Mrgpra4	A	T	7: 47,631,224 (GRCm39)	W126R	probably damaging	Het
Nlrp4e	G	A	7: 23,020,397 (GRCm39)	V295I	probably benign	Het
Or1l4b	A	T	2: 37,037,039 (GRCm39)	T272S	probably damaging	Het
Or2f1	G	A	6: 42,721,057 (GRCm39)	V29I	probably benign	Het
Or4c10	G	T	2: 89,760,449 (GRCm39)	V99F	possibly damaging	Het
Or5ac19	A	G	16: 59,089,518 (GRCm39)	S171P	probably benign	Het
Or5ac24	A	T	16: 59,165,425 (GRCm39)	I213N	probably damaging	Het
Or5b96	T	A	19: 12,867,513 (GRCm39)	T143S	probably benign	Het
Or6c66	A	G	10: 129,461,516 (GRCm39)	V138A	possibly damaging	Het
Or8h10	A	G	2: 86,809,020 (GRCm39)	L40P	probably damaging	Het
Or8k41	A	T	2: 86,313,582 (GRCm39)	F168Y	probably damaging	Het
Plec	G	T	15: 76,068,038 (GRCm39)	N1190K	possibly damaging	Het
Plin1	T	C	7: 79,379,719 (GRCm39)	T44A	probably damaging	Het
Pou3f2	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	4: 22,487,697 (GRCm39)		probably benign	Het
Pramel22	A	G	4: 143,383,204 (GRCm39)	L5P	probably damaging	Het
Psg27	A	G	7: 18,299,234 (GRCm39)	L29P	probably damaging	Het
Psmd13	C	A	7: 140,477,367 (GRCm39)	T292N	probably damaging	Het
Rab1b	A	T	19: 5,154,684 (GRCm39)	Y88*	probably null	Het
Reln	T	A	5: 22,104,027 (GRCm39)	I3315L	probably benign	Het
Rmdn2	A	T	17: 79,966,880 (GRCm39)	M257L	probably benign	Het
Rnd1	A	T	15: 98,574,435 (GRCm39)	F47L	probably damaging	Het
Rnf41	G	A	10: 128,274,076 (GRCm39)	V243I	probably benign	Het
Scn5a	A	T	9: 119,362,993 (GRCm39)	D542E	probably damaging	Het
Sema5b	A	T	16: 35,448,466 (GRCm39)	I81F	probably benign	Het
Serinc5	G	A	13: 92,819,285 (GRCm39)	C73Y	probably damaging	Het
Serpina3g	A	T	12: 104,205,551 (GRCm39)	N97Y	possibly damaging	Het
Shq1	A	G	6: 100,614,033 (GRCm39)	S262P	probably damaging	Het
Smad4	A	T	18: 73,781,978 (GRCm39)	I428N	probably damaging	Het
Snip1	G	T	4: 124,966,613 (GRCm39)	G348W	probably damaging	Het
Spg11	A	G	2: 121,901,422 (GRCm39)	L1506P	probably damaging	Het
Stard9	G	A	2: 120,526,694 (GRCm39)	V984I	possibly damaging	Het
Svopl	A	T	6: 38,006,635 (GRCm39)	F121I	possibly damaging	Het
Tjp1	A	T	7: 64,972,802 (GRCm39)	V546E	probably damaging	Het
Tmem116	T	A	5: 121,631,819 (GRCm39)	F110L	probably damaging	Het
Ttyh2	C	T	11: 114,601,714 (GRCm39)	T446M	probably benign	Het
Tubb1	A	T	2: 174,299,532 (GRCm39)	I405L	probably benign	Het
Uba5	A	T	9: 103,933,025 (GRCm39)	F155L	possibly damaging	Het
Ubd	C	T	17: 37,506,212 (GRCm39)	H33Y	probably damaging	Het
Ube3d	A	T	9: 86,322,648 (GRCm39)	D175E	probably benign	Het
Usp24	A	G	4: 106,278,157 (GRCm39)	Q2293R	probably benign	Het
Vmn1r175	T	A	7: 23,507,937 (GRCm39)	H230L	probably benign	Het
Vmn1r88	A	G	7: 12,912,060 (GRCm39)	I139V	probably benign	Het
Vmn2r1	T	C	3: 63,994,046 (GRCm39)	F131L	probably benign	Het
Yipf3	T	C	17: 46,562,155 (GRCm39)		probably null	Het
Zdhhc19	A	G	16: 32,325,258 (GRCm39)	K192R	probably benign	Het
Zfy1	G	A	Y: 725,611 (GRCm39)	T718I	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
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

Posted On

2014-01-15