Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02567:Rnf111'

298848

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf111

Ensembl Gene

ENSMUSG00000032217

Gene Name

ring finger 111

Synonyms

Arkadia

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02567

Quality Score

Status

Chromosome

Chromosomal Location

70425424-70503725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70459005 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 384 (T384A)

Ref Sequence

ENSEMBL: ENSMUSP00000149501 (fasta)

Gene Model

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

AlphaFold

Q99ML9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034739
AA Change: T384A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034739
Gene: ENSMUSG00000032217
AA Change: T384A

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: T384A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109225
Gene: ENSMUSG00000032217
AA Change: T384A

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

probably damaging
Transcript: ENSMUST00000213647
AA Change: T384A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213694

Predicted Effect

probably damaging
Transcript: ENSMUST00000215848
AA Change: T384A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

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 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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	C	A	11: 53,372,751	S199R	possibly damaging	Het
Ano1	A	G	7: 144,611,625	L621P	probably damaging	Het
Calcr	C	T	6: 3,691,564	V404M	probably damaging	Het
Carmil3	A	G	14: 55,498,882	S635G	possibly damaging	Het
Ccl12	C	A	11: 82,102,621	S28R	possibly damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdhr3	T	C	12: 33,038,901	N761D	probably benign	Het
Col14a1	T	C	15: 55,344,961		probably null	Het
Col28a1	T	C	6: 8,014,819	K862R	possibly damaging	Het
Cyp2c66	C	T	19: 39,186,640		probably benign	Het
D5Ertd615e	T	C	5: 45,163,416		noncoding transcript	Het
Deup1	T	C	9: 15,575,283	E367G	probably damaging	Het
Dpp8	T	G	9: 65,078,776	Y849*	probably null	Het
Efhc1	T	A	1: 20,972,964	V369E	probably damaging	Het
Epg5	A	G	18: 78,033,073	Y2562C	probably damaging	Het
Fam189a1	T	A	7: 64,786,731	M101L	possibly damaging	Het
Fbln5	A	G	12: 101,761,800		probably null	Het
Frem1	A	T	4: 83,000,055	M551K	probably damaging	Het
Gba2	T	C	4: 43,567,281	S889G	probably benign	Het
Golph3	C	T	15: 12,349,421	R176*	probably null	Het
Got2	A	T	8: 95,872,201	F191Y	probably benign	Het
Gtf2ird2	G	T	5: 134,213,048		probably benign	Het
Hist4h4	G	A	6: 136,804,274	R36W	probably damaging	Het
Hivep3	A	G	4: 120,133,956	T2218A	probably damaging	Het
Htr1f	C	T	16: 64,926,248	G227D	probably benign	Het
Ifi202b	C	T	1: 173,963,804	S436N	possibly damaging	Het
Nf1	T	A	11: 79,547,143	V2109D	probably damaging	Het
Opa1	C	A	16: 29,588,286	D29E	probably benign	Het
Papln	C	T	12: 83,778,837	P631S	probably benign	Het
Pde4c	T	A	8: 70,747,921	M352K	probably benign	Het
Pigu	T	C	2: 155,331,192	T129A	possibly damaging	Het
Pla2g4c	T	A	7: 13,346,040	H424Q	probably damaging	Het
Ptpn13	T	G	5: 103,562,291	L1564R	probably damaging	Het
Rbm5	T	C	9: 107,744,274	D642G	probably damaging	Het
Scn11a	T	C	9: 119,804,489	T393A	probably damaging	Het
Sned1	A	T	1: 93,274,347	K619M	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Syt9	A	G	7: 107,436,661	Y295C	probably damaging	Het
Taar7f	T	A	10: 24,050,425	Y306N	probably damaging	Het
Tmem107	T	G	11: 69,071,019	L25V	possibly damaging	Het
Wdr24	T	G	17: 25,824,348	I48S	probably damaging	Het
Zc3hc1	T	C	6: 30,374,849	D231G	probably benign	Het
Zfp142	T	A	1: 74,578,147	S342C	possibly damaging	Het
Zfp142	T	G	1: 74,578,149	K341T	possibly damaging	Het
Zfp142	T	C	1: 74,578,150	K341E	possibly damaging	Het
Zfp804b	T	A	5: 6,769,989	I989L	probably benign	Het
Zfyve9	A	C	4: 108,674,523	V1095G	probably damaging	Het

Other mutations in Rnf111

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02473:Rnf111	APN	9	70440858	missense	probably damaging	1.00
R0052:Rnf111	UTSW	9	70476389	missense	probably benign	0.00
R0245:Rnf111	UTSW	9	70453831	splice site	probably benign
R0760:Rnf111	UTSW	9	70429678	missense	probably damaging	1.00
R1327:Rnf111	UTSW	9	70453816	missense	possibly damaging	0.60
R1778:Rnf111	UTSW	9	70476112	missense	probably benign	0.00
R1884:Rnf111	UTSW	9	70476238	missense	probably damaging	0.99
R1892:Rnf111	UTSW	9	70476374	missense	probably damaging	1.00
R2261:Rnf111	UTSW	9	70476391	missense	probably benign
R2762:Rnf111	UTSW	9	70476045	missense	possibly damaging	0.82
R3980:Rnf111	UTSW	9	70442325	missense	probably damaging	1.00
R4577:Rnf111	UTSW	9	70429584	nonsense	probably null
R4631:Rnf111	UTSW	9	70450396	missense	probably benign	0.07
R4804:Rnf111	UTSW	9	70430957	missense	possibly damaging	0.70
R5153:Rnf111	UTSW	9	70476140	missense	probably benign	0.35
R5500:Rnf111	UTSW	9	70476043	missense	possibly damaging	0.94
R5546:Rnf111	UTSW	9	70459096	missense	probably benign	0.05
R5975:Rnf111	UTSW	9	70429580	missense	probably damaging	1.00
R6395:Rnf111	UTSW	9	70476410	missense	possibly damaging	0.95
R6482:Rnf111	UTSW	9	70429607	missense	probably damaging	1.00
R7056:Rnf111	UTSW	9	70453675	missense	possibly damaging	0.60
R7239:Rnf111	UTSW	9	70469373	missense	probably damaging	1.00
R7444:Rnf111	UTSW	9	70440843	missense	probably damaging	1.00
R7618:Rnf111	UTSW	9	70503332	start gained	probably benign
R8068:Rnf111	UTSW	9	70457941	missense	probably benign	0.00
R8323:Rnf111	UTSW	9	70475922	missense	probably benign	0.03
R8444:Rnf111	UTSW	9	70457941	missense	probably benign	0.00
R8997:Rnf111	UTSW	9	70476263	missense	probably damaging	0.98
R9108:Rnf111	UTSW	9	70429564	missense	probably damaging	1.00

Posted On

2015-04-16