Mutagenetix > Incidental Mutation

Incidental Mutation 'R4804:Rnf111'

370552

Institutional Source

Beutler Lab

Gene Symbol

Rnf111

Ensembl Gene

ENSMUSG00000032217

Gene Name

ring finger 111

Synonyms

Arkadia

MMRRC Submission

041998-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4804 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70332706-70411007 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70338239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 900 (C900S)

Ref Sequence

ENSEMBL: ENSMUSP00000149445 (fasta)

Gene Model

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

AlphaFold

Q99ML9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034739
AA Change: C900S

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034739
Gene: ENSMUSG00000032217
AA Change: C900S

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

possibly damaging
Transcript: ENSMUST00000113595
AA Change: C900S

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109225
Gene: ENSMUSG00000032217
AA Change: C900S

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

noncoding transcript
Transcript: ENSMUST00000213208

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213647
AA Change: C899S

PolyPhen 2 Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213996

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215848
AA Change: C900S

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.1664

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

99% (78/79)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930527J03Rik	T	C	1: 178,103,675 (GRCm39)		noncoding transcript	Het
Ap4e1	T	C	2: 126,885,678 (GRCm39)		probably null	Het
Apbb1ip	T	C	2: 22,713,610 (GRCm39)		probably null	Het
Apol11b	T	A	15: 77,519,466 (GRCm39)	I205F	probably damaging	Het
Arl6ip1	A	T	7: 117,728,775 (GRCm39)		probably null	Het
Barx2	A	G	9: 31,758,108 (GRCm39)	S277P	unknown	Het
BC035947	T	G	1: 78,474,513 (GRCm39)	D673A	probably damaging	Het
Cacna2d1	A	T	5: 16,564,206 (GRCm39)	I930F	probably damaging	Het
Cd226	T	C	18: 89,225,292 (GRCm39)	V63A	possibly damaging	Het
Cdk8	A	G	5: 146,233,209 (GRCm39)	K236E	probably damaging	Het
Cds1	T	C	5: 101,969,389 (GRCm39)	L449P	probably damaging	Het
Celsr1	T	C	15: 85,822,154 (GRCm39)	D1721G	possibly damaging	Het
Chtf18	T	C	17: 25,938,231 (GRCm39)	D934G	probably benign	Het
Clk4	T	A	11: 51,172,150 (GRCm39)	L271Q	probably damaging	Het
Cnnm1	C	A	19: 43,480,014 (GRCm39)	T853N	probably benign	Het
Col26a1	A	G	5: 136,865,579 (GRCm39)	V103A	probably damaging	Het
D5Ertd579e	C	T	5: 36,786,996 (GRCm39)		probably null	Het
Ddx39a	A	G	8: 84,447,724 (GRCm39)	K190E	probably damaging	Het
Dgkg	G	A	16: 22,393,943 (GRCm39)		probably benign	Het
Dnajc14	A	T	10: 128,649,926 (GRCm39)	H477L	probably benign	Het
Dytn	A	G	1: 63,682,525 (GRCm39)	V374A	probably benign	Het
Gfra2	T	C	14: 71,163,361 (GRCm39)	Y215H	possibly damaging	Het
Grik1	A	G	16: 87,754,457 (GRCm39)	I376T	probably damaging	Het
Gzmm	A	T	10: 79,530,890 (GRCm39)	T231S	probably benign	Het
Hecw1	A	G	13: 14,480,570 (GRCm39)	S499P	probably benign	Het
Hhla1	T	C	15: 65,794,948 (GRCm39)	I511V	probably benign	Het
Ifnlr1	A	G	4: 135,432,647 (GRCm39)	D361G	possibly damaging	Het
Ikzf3	A	G	11: 98,381,400 (GRCm39)	V60A	probably benign	Het
Ipo4	G	C	14: 55,868,313 (GRCm39)	R495G	possibly damaging	Het
Kat2b-ps	A	T	5: 93,540,392 (GRCm39)		noncoding transcript	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Mblac2	T	A	13: 81,898,428 (GRCm39)	L268*	probably null	Het
Mipep	C	T	14: 61,040,401 (GRCm39)	T307I	probably damaging	Het
Ms4a14	A	G	19: 11,281,404 (GRCm39)	S385P	possibly damaging	Het
Myh2	T	A	11: 67,077,328 (GRCm39)	I821N	possibly damaging	Het
Myo5c	A	T	9: 75,152,306 (GRCm39)	I65F	probably damaging	Het
Neurog1	A	G	13: 56,399,579 (GRCm39)	L56P	probably benign	Het
Nrsn1	C	A	13: 25,437,580 (GRCm39)	C116F	probably benign	Het
Nscme3l	A	T	19: 5,553,028 (GRCm39)	M251K	possibly damaging	Het
Nynrin	T	C	14: 56,102,326 (GRCm39)	V665A	probably benign	Het
Or10w1	A	G	19: 13,631,882 (GRCm39)	M30V	probably benign	Het
Or2w1b	T	A	13: 21,300,175 (GRCm39)	Y104*	probably null	Het
Or5ak20	T	C	2: 85,183,425 (GRCm39)	I282V	probably benign	Het
Pakap	T	C	4: 57,854,688 (GRCm39)	S67P	probably benign	Het
Pcdhac1	C	T	18: 37,224,231 (GRCm39)	S348L	possibly damaging	Het
Pcnx4	T	C	12: 72,620,976 (GRCm39)	I932T	probably benign	Het
Pfkl	G	A	10: 77,827,228 (GRCm39)	T486I	probably benign	Het
Pi4ka	A	T	16: 17,126,025 (GRCm39)	M1115K	possibly damaging	Het
Rilpl1	A	G	5: 124,631,828 (GRCm39)	W173R	probably damaging	Het
Ryr2	A	G	13: 11,731,983 (GRCm39)	V2319A	probably damaging	Het
Scnn1g	AATCCTGCAGGTGA	AA	7: 121,362,303 (GRCm39)		probably null	Het
Slc25a13	A	T	6: 6,109,213 (GRCm39)	L383H	probably damaging	Het
Slco2a1	C	T	9: 102,950,383 (GRCm39)	P325L	probably damaging	Het
Stoml2	T	C	4: 43,029,882 (GRCm39)	N162S	probably benign	Het
Syne1	G	T	10: 5,299,310 (GRCm39)	Q982K	possibly damaging	Het
Tbc1d31	C	T	15: 57,814,502 (GRCm39)	Q568*	probably null	Het
Tbc1d9	G	A	8: 83,982,554 (GRCm39)		probably null	Het
Tbx3	A	G	5: 119,818,577 (GRCm39)	D384G	possibly damaging	Het
Tecta	T	C	9: 42,309,533 (GRCm39)	I14V	probably benign	Het
Tgm1	A	T	14: 55,943,076 (GRCm39)	V588E	probably benign	Het
Tpk1	A	C	6: 43,570,012 (GRCm39)		probably benign	Het
Tspear	A	T	10: 77,612,791 (GRCm39)		probably null	Het
Ubxn10	G	T	4: 138,448,515 (GRCm39)	Q54K	possibly damaging	Het
Ubxn4	C	T	1: 128,194,141 (GRCm39)	R312*	probably null	Het
Vmn1r230	A	T	17: 21,067,345 (GRCm39)	K178M	probably damaging	Het
Zfp143	G	A	7: 109,687,976 (GRCm39)	V445I	probably damaging	Het
Zfp688	C	A	7: 127,021,057 (GRCm39)	W40C	probably damaging	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
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
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'- TGACTCCCTGTCTAAATCTGAAAACC -3'
(R):5'- GGTCACGCCCTTATTAACAACC -3'

Sequencing Primer
(F):5'- CCAGGGATTATGTGAAGAGATTTC -3'
(R):5'- CGCCCTTATTAACAACCACTTATG -3'

Posted On

2016-02-04