Mutagenetix > Incidental Mutation

Incidental Mutation 'R8997:Rnf111'

684778

Institutional Source

Beutler Lab

Gene Symbol

Rnf111

Ensembl Gene

ENSMUSG00000032217

Gene Name

ring finger 111

Synonyms

Arkadia

MMRRC Submission

068828-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70332706-70411007 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70383545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 129 (N129K)

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: N129K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034739
Gene: ENSMUSG00000032217
AA Change: N129K

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: N129K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109225
Gene: ENSMUSG00000032217
AA Change: N129K

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: N129K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215848
AA Change: N129K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 98.1%

Validation Efficiency

98% (52/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	T	1: 11,615,491 (GRCm39)	E155*	probably null	Het
Abhd17a	T	C	10: 80,422,470 (GRCm39)	T71A	probably benign	Het
Adgrv1	GTT	GT	13: 81,553,457 (GRCm39)		probably null	Het
Adra2a	T	C	19: 54,035,729 (GRCm39)	S362P	probably benign	Het
Arid1a	T	A	4: 133,421,343 (GRCm39)	N436Y	unknown	Het
Cma2	T	A	14: 56,210,201 (GRCm39)	C85S	probably benign	Het
Cntn1	G	A	15: 92,132,347 (GRCm39)	V148M	probably damaging	Het
Cntn3	A	G	6: 102,181,023 (GRCm39)	V724A	probably damaging	Het
Dennd1a	C	T	2: 37,690,497 (GRCm39)	G868R	probably benign	Het
Disp2	C	T	2: 118,617,467 (GRCm39)	P154S	probably damaging	Het
Dlgap1	A	G	17: 70,823,528 (GRCm39)	D171G	possibly damaging	Het
Dpp4	A	C	2: 62,164,958 (GRCm39)	I697S	probably damaging	Het
Dync2h1	A	T	9: 7,129,003 (GRCm39)	D1837E	probably benign	Het
Fbxo39	T	A	11: 72,208,466 (GRCm39)	S273T	probably damaging	Het
Fgf5	A	T	5: 98,423,411 (GRCm39)	*265C	probably null	Het
Fscb	A	G	12: 64,520,758 (GRCm39)	V236A	possibly damaging	Het
Greb1l	A	T	18: 10,510,747 (GRCm39)	T614S	probably damaging	Het
Gtdc1	A	T	2: 44,715,386 (GRCm39)	N52K	probably benign	Het
Il6ra	T	C	3: 89,794,418 (GRCm39)	D181G	probably damaging	Het
Inhba	T	G	13: 16,201,107 (GRCm39)	V223G	possibly damaging	Het
Kcnma1	T	C	14: 23,513,037 (GRCm39)		probably benign	Het
Kdm2b	C	A	5: 123,018,236 (GRCm39)	W1068L	probably null	Het
Mdn1	T	C	4: 32,773,275 (GRCm39)	L5485P	probably damaging	Het
Muc16	T	C	9: 18,518,763 (GRCm39)		probably benign	Het
Ncapd3	T	C	9: 26,959,577 (GRCm39)	F338L	probably damaging	Het
Negr1	T	A	3: 156,721,918 (GRCm39)	I164N	probably damaging	Het
Nek9	A	T	12: 85,367,565 (GRCm39)	C369S	probably benign	Het
Ninl	C	T	2: 150,801,816 (GRCm39)	E151K	probably damaging	Het
Nphp1	A	T	2: 127,595,982 (GRCm39)	S494R	possibly damaging	Het
Nphp4	G	A	4: 152,623,345 (GRCm39)	R673H	probably damaging	Het
Obscn	C	T	11: 58,934,629 (GRCm39)		probably benign	Het
Osbpl8	T	C	10: 111,091,575 (GRCm39)	S82P	probably benign	Het
Pcdhgb1	C	A	18: 37,814,133 (GRCm39)	P208Q	probably damaging	Het
Pik3c2b	A	G	1: 133,018,517 (GRCm39)	E988G	possibly damaging	Het
Rfc1	A	T	5: 65,433,064 (GRCm39)	M722K	probably damaging	Het
Sdccag8	C	A	1: 176,783,374 (GRCm39)	L628I	probably damaging	Het
Sgcz	G	T	8: 39,127,894 (GRCm39)	D8E	probably benign	Het
Sgip1	T	A	4: 102,790,781 (GRCm39)	F254L		Het
Shf	A	G	2: 122,187,728 (GRCm39)	L26P	probably damaging	Het
Slc39a5	G	A	10: 128,232,348 (GRCm39)	A484V	probably damaging	Het
Slco4c1	T	A	1: 96,795,672 (GRCm39)	I129F	probably damaging	Het
Tbck	A	T	3: 132,440,106 (GRCm39)		probably null	Het
Tcstv7b	A	T	13: 120,702,515 (GRCm39)	M104L	probably benign	Het
Teddm3	A	T	16: 20,971,687 (GRCm39)	V294E	probably damaging	Het
Tent4b	T	A	8: 88,979,023 (GRCm39)	V508D	probably benign	Het
Treml1	A	T	17: 48,667,466 (GRCm39)	H117L	probably damaging	Het
Trip12	G	T	1: 84,771,596 (GRCm39)	T184N	probably benign	Het
Tuba3b	G	T	6: 145,566,954 (GRCm39)	M398I	possibly damaging	Het
Vcam1	T	C	3: 115,910,977 (GRCm39)	I474V	probably benign	Het
Wdsub1	A	C	2: 59,688,977 (GRCm39)	M415R	probably damaging	Het
Zfp14	A	T	7: 29,737,600 (GRCm39)	F462I	probably damaging	Het
Zfp846	G	A	9: 20,505,726 (GRCm39)	V529I	probably benign	Het
Zfp873	A	G	10: 81,896,990 (GRCm39)	T574A	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
R9108:Rnf111	UTSW	9	70,336,846 (GRCm39)	missense	probably damaging	1.00
R9774:Rnf111	UTSW	9	70,334,303 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGATCTGCCTCAGTTCGAG -3'
(R):5'- GCAAAGTGGGGAATGAATTCTC -3'

Sequencing Primer
(F):5'- AGTTCGAGGCCACTTGTGAGAC -3'
(R):5'- AGTGGGGAATGAATTCTCTCATC -3'

Posted On

2021-10-11