Mutagenetix > Incidental Mutation

Incidental Mutation 'R9108:Rnf111'

692085

Institutional Source

Beutler Lab

Gene Symbol

Rnf111

Ensembl Gene

ENSMUSG00000032217

Gene Name

ring finger 111

Synonyms

Arkadia

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9108 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70332706-70411007 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70336846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 947 (G947D)

Ref Sequence

ENSEMBL: ENSMUSP00000034739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034739] [ENSMUST00000113595] [ENSMUST00000213647] [ENSMUST00000215848]

AlphaFold

Q99ML9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034739
AA Change: G947D

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

SMART Domains

Protein: ENSMUSP00000034739
Gene: ENSMUSG00000032217
AA Change: G947D

Domain	Start	End	E-Value	Type
Pfam:RNF111_N	18	290	2.5e-112	PFAM
low complexity region	340	355	N/A	INTRINSIC
low complexity region	503	518	N/A	INTRINSIC
low complexity region	623	632	N/A	INTRINSIC
low complexity region	692	707	N/A	INTRINSIC
low complexity region	744	758	N/A	INTRINSIC
low complexity region	759	776	N/A	INTRINSIC
low complexity region	820	837	N/A	INTRINSIC
low complexity region	924	935	N/A	INTRINSIC
RING	937	977	3e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113595
AA Change: G947D

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

SMART Domains

Protein: ENSMUSP00000109225
Gene: ENSMUSG00000032217
AA Change: G947D

Domain	Start	End	E-Value	Type
Pfam:RNF111_N	18	290	1.8e-97	PFAM
low complexity region	340	355	N/A	INTRINSIC
low complexity region	503	518	N/A	INTRINSIC
low complexity region	623	632	N/A	INTRINSIC
low complexity region	692	707	N/A	INTRINSIC
low complexity region	744	758	N/A	INTRINSIC
low complexity region	759	776	N/A	INTRINSIC
low complexity region	820	837	N/A	INTRINSIC
low complexity region	924	935	N/A	INTRINSIC
RING	937	977	3e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213647
AA Change: G938D

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215848
AA Change: G939D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (65/65)

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 nuclear RING-domain containing E3 ubiquitin ligase. This protein interacts with the transforming growth factor (TGF) -beta/NODAL signaling pathway by promoting the ubiquitination and proteosomal degradation of negative regulators, like SMAD proteins, and thereby enhances TGF-beta target-gene transcription. As a modulator of the nodal signaling cascade, this gene plays a critical role in the induction of mesoderm during embryonic development. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele fail to develop anterior structures and midline with failure to develop anterior endoderm, node and mesendoderm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	A	18: 6,638,794 (GRCm39)	V398M	probably benign	Het
4930568D16Rik	G	A	2: 35,244,942 (GRCm39)	P137S	probably damaging	Het
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Abcg8	A	C	17: 85,000,243 (GRCm39)	I268L	probably benign	Het
Acvrl1	A	G	15: 101,039,038 (GRCm39)	Q445R	probably damaging	Het
Adam17	T	C	12: 21,380,132 (GRCm39)	N625D	probably benign	Het
Adamts9	C	T	6: 92,857,721 (GRCm39)	V856M	probably damaging	Het
Adar	T	C	3: 89,643,474 (GRCm39)	C452R	probably damaging	Het
Adgra3	G	T	5: 50,136,295 (GRCm39)	A730D	probably damaging	Het
Adnp2	C	T	18: 80,185,925 (GRCm39)	R16Q	probably damaging	Het
Aox1	T	C	1: 58,321,851 (GRCm39)	C48R	probably damaging	Het
Cabin1	T	C	10: 75,492,973 (GRCm39)	E1774G	possibly damaging	Het
Capsl	A	T	15: 9,465,910 (GRCm39)	I199F	possibly damaging	Het
Ccdc191	T	A	16: 43,718,512 (GRCm39)	D36E	possibly damaging	Het
Cep170	T	A	1: 176,616,051 (GRCm39)	K86*	probably null	Het
Cnnm1	T	C	19: 43,464,649 (GRCm39)	F736S	possibly damaging	Het
Col11a2	T	A	17: 34,276,634 (GRCm39)	V532E	probably benign	Het
Dnmt3l	T	C	10: 77,892,756 (GRCm39)		probably null	Het
Dync1h1	T	A	12: 110,622,706 (GRCm39)		probably benign	Het
Dzank1	C	A	2: 144,364,391 (GRCm39)	V69L	probably benign	Het
Epor	T	G	9: 21,870,875 (GRCm39)	E335A	probably damaging	Het
Fbxo46	A	T	7: 18,870,308 (GRCm39)	Y309F	probably damaging	Het
Fra10ac1	A	T	19: 38,202,779 (GRCm39)		probably benign	Het
Gid8	G	T	2: 180,352,132 (GRCm39)		probably benign	Het
Gm57858	T	G	3: 36,080,036 (GRCm39)	*240C	probably null	Het
Gnptab	C	T	10: 88,269,400 (GRCm39)	S701L		Het
Ifnl3	T	C	7: 28,223,704 (GRCm39)	L180P	probably benign	Het
Ikzf2	T	A	1: 69,577,956 (GRCm39)	I518F	probably damaging	Het
Ildr1	A	G	16: 36,535,919 (GRCm39)	T145A	probably benign	Het
Kiss1r	A	T	10: 79,754,336 (GRCm39)		probably benign	Het
Lhpp	A	G	7: 132,252,018 (GRCm39)	D219G	probably damaging	Het
Lrp1	A	T	10: 127,390,206 (GRCm39)	M3071K	probably damaging	Het
Map6	T	C	7: 98,986,103 (GRCm39)	L872P	probably damaging	Het
Mgst2	T	A	3: 51,589,233 (GRCm39)	L82Q	probably damaging	Het
Mier2	A	T	10: 79,377,756 (GRCm39)	V399E	probably benign	Het
Nms	T	C	1: 38,985,147 (GRCm39)	V91A	possibly damaging	Het
Nt5dc2	T	A	14: 30,857,016 (GRCm39)	Y145*	probably null	Het
Olfml2a	A	T	2: 38,831,753 (GRCm39)	M111L	probably benign	Het
Or5p63	T	C	7: 107,810,846 (GRCm39)	N297D	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,779 (GRCm39)	L172Q	unknown	Het
Plod3	T	C	5: 137,018,017 (GRCm39)	I221T	probably damaging	Het
Polm	T	C	11: 5,779,872 (GRCm39)	Q342R	probably benign	Het
Ppp2r5c	A	T	12: 110,521,303 (GRCm39)	L275F	probably damaging	Het
Prdm12	C	T	2: 31,533,929 (GRCm39)	T182M	possibly damaging	Het
Rasgrp2	G	A	19: 6,458,890 (GRCm39)	V440M	probably damaging	Het
Runx3	A	T	4: 134,882,692 (GRCm39)	M143L	probably damaging	Het
Samd9l	T	C	6: 3,373,104 (GRCm39)	S1386G	possibly damaging	Het
Saxo2	C	T	7: 82,284,082 (GRCm39)	V259I	probably benign	Het
Shroom3	T	C	5: 93,087,975 (GRCm39)	S242P	probably damaging	Het
Slc35e1	G	A	8: 73,246,030 (GRCm39)	P134L		Het
Spata31d1a	A	G	13: 59,850,982 (GRCm39)	V382A	probably benign	Het
Tanc2	T	A	11: 105,810,580 (GRCm39)		probably benign	Het
Tenm3	A	T	8: 48,766,271 (GRCm39)		probably null	Het
Trip10	C	T	17: 57,560,519 (GRCm39)	A123V	probably damaging	Het
Trmt13	A	G	3: 116,375,129 (GRCm39)	S460P	probably damaging	Het
Trpd52l3	A	G	19: 29,981,329 (GRCm39)	N28S	probably benign	Het
Tubb4a	A	G	17: 57,388,232 (GRCm39)	F265L	probably benign	Het
Uba6	A	T	5: 86,282,934 (GRCm39)	C581S	possibly damaging	Het
Uckl1	A	G	2: 181,211,293 (GRCm39)	V512A	probably damaging	Het
Usp34	A	T	11: 23,320,528 (GRCm39)	M957L		Het
Vmn2r57	T	C	7: 41,078,192 (GRCm39)	I89V	possibly damaging	Het
Zfp1005	T	A	2: 150,109,969 (GRCm39)	C220S	possibly damaging	Het
Zfp322a	T	C	13: 23,541,437 (GRCm39)	I102V	probably benign	Het
Zzef1	A	G	11: 72,790,604 (GRCm39)	D2186G	probably benign	Het

Other mutations in Rnf111

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02473:Rnf111	APN	9	70,348,140 (GRCm39)	missense	probably damaging	1.00
IGL02567:Rnf111	APN	9	70,366,287 (GRCm39)	missense	probably damaging	1.00
R0052:Rnf111	UTSW	9	70,383,671 (GRCm39)	missense	probably benign	0.00
R0245:Rnf111	UTSW	9	70,361,113 (GRCm39)	splice site	probably benign
R0760:Rnf111	UTSW	9	70,336,960 (GRCm39)	missense	probably damaging	1.00
R1327:Rnf111	UTSW	9	70,361,098 (GRCm39)	missense	possibly damaging	0.60
R1778:Rnf111	UTSW	9	70,383,394 (GRCm39)	missense	probably benign	0.00
R1884:Rnf111	UTSW	9	70,383,520 (GRCm39)	missense	probably damaging	0.99
R1892:Rnf111	UTSW	9	70,383,656 (GRCm39)	missense	probably damaging	1.00
R2261:Rnf111	UTSW	9	70,383,673 (GRCm39)	missense	probably benign
R2762:Rnf111	UTSW	9	70,383,327 (GRCm39)	missense	possibly damaging	0.82
R3980:Rnf111	UTSW	9	70,349,607 (GRCm39)	missense	probably damaging	1.00
R4577:Rnf111	UTSW	9	70,336,866 (GRCm39)	nonsense	probably null
R4631:Rnf111	UTSW	9	70,357,678 (GRCm39)	missense	probably benign	0.07
R4804:Rnf111	UTSW	9	70,338,239 (GRCm39)	missense	possibly damaging	0.70
R5153:Rnf111	UTSW	9	70,383,422 (GRCm39)	missense	probably benign	0.35
R5500:Rnf111	UTSW	9	70,383,325 (GRCm39)	missense	possibly damaging	0.94
R5546:Rnf111	UTSW	9	70,366,378 (GRCm39)	missense	probably benign	0.05
R5975:Rnf111	UTSW	9	70,336,862 (GRCm39)	missense	probably damaging	1.00
R6395:Rnf111	UTSW	9	70,383,692 (GRCm39)	missense	possibly damaging	0.95
R6482:Rnf111	UTSW	9	70,336,889 (GRCm39)	missense	probably damaging	1.00
R7056:Rnf111	UTSW	9	70,360,957 (GRCm39)	missense	possibly damaging	0.60
R7239:Rnf111	UTSW	9	70,376,655 (GRCm39)	missense	probably damaging	1.00
R7444:Rnf111	UTSW	9	70,348,125 (GRCm39)	missense	probably damaging	1.00
R7618:Rnf111	UTSW	9	70,410,614 (GRCm39)	start gained	probably benign
R8068:Rnf111	UTSW	9	70,365,223 (GRCm39)	missense	probably benign	0.00
R8323:Rnf111	UTSW	9	70,383,204 (GRCm39)	missense	probably benign	0.03
R8444:Rnf111	UTSW	9	70,365,223 (GRCm39)	missense	probably benign	0.00
R8997:Rnf111	UTSW	9	70,383,545 (GRCm39)	missense	probably damaging	0.98
R9774:Rnf111	UTSW	9	70,334,303 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCGTGACCAGTTGATCCATTTG -3'
(R):5'- CTTCCAGGAGTCAGTAATTAATTGG -3'

Sequencing Primer
(F):5'- GTGACCAGTTGATCCATTTGTGAATC -3'
(R):5'- CATGACAGTGTTGTGTAGGAATTAAG -3'

Posted On

2021-12-30