Mutagenetix > Incidental Mutation

Incidental Mutation 'R5546:Rnf111'

436291

Institutional Source

Beutler Lab

Gene Symbol

Rnf111

Ensembl Gene

ENSMUSG00000032217

Gene Name

ring finger 111

Synonyms

Arkadia

MMRRC Submission

043104-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5546 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70332706-70411007 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70366378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 353 (H353Q)

Ref Sequence

ENSEMBL: ENSMUSP00000149501 (fasta)

Gene Model

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

AlphaFold

Q99ML9

Predicted Effect

probably benign
Transcript: ENSMUST00000034739
AA Change: H353Q

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000034739
Gene: ENSMUSG00000032217
AA Change: H353Q

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 benign
Transcript: ENSMUST00000113595
AA Change: H353Q

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109225
Gene: ENSMUSG00000032217
AA Change: H353Q

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 benign
Transcript: ENSMUST00000213647
AA Change: H353Q

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213694

Predicted Effect

probably benign
Transcript: ENSMUST00000215848
AA Change: H353Q

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,806,832 (GRCm39)	N385S	probably benign	Het
Ahctf1	A	T	1: 179,581,633 (GRCm39)	I1523N	probably benign	Het
Akna	C	T	4: 63,313,196 (GRCm39)	G309E	probably benign	Het
Akna	T	C	4: 63,313,803 (GRCm39)	N107D	probably benign	Het
Arhgef15	G	A	11: 68,844,877 (GRCm39)	P240L	probably benign	Het
Brd1	T	A	15: 88,585,325 (GRCm39)	E836D	probably benign	Het
Brf2	A	G	8: 27,614,311 (GRCm39)	S292P	possibly damaging	Het
C3	A	G	17: 57,529,976 (GRCm39)	L500P	probably damaging	Het
Cblif	T	C	19: 11,725,859 (GRCm39)	S50P	possibly damaging	Het
Ccdc107	T	C	4: 43,495,685 (GRCm39)	L196P	probably damaging	Het
Cdcp1	G	T	9: 123,007,094 (GRCm39)	P551Q	probably damaging	Het
Ckap5	T	C	2: 91,425,161 (GRCm39)	L1224P	probably damaging	Het
Csnk1g2	C	A	10: 80,474,232 (GRCm39)	T178K	probably benign	Het
Ctsq	A	T	13: 61,185,702 (GRCm39)	C146*	probably null	Het
Cyp2ab1	T	A	16: 20,132,507 (GRCm39)	I264F	probably damaging	Het
Daxx	TGATGATGACGATGATGACGATGATGA	TGATGATGACGATGATGA	17: 34,131,615 (GRCm39)		probably benign	Het
Dnah11	G	A	12: 117,939,583 (GRCm39)	T3179M	possibly damaging	Het
Dnah7c	A	T	1: 46,705,477 (GRCm39)	T2497S	probably damaging	Het
Eif4enif1	T	C	11: 3,193,989 (GRCm39)	V776A	probably damaging	Het
Erbb4	G	T	1: 68,337,452 (GRCm39)	T622N	probably damaging	Het
Erich6	A	G	3: 58,526,218 (GRCm39)	Y595H	probably benign	Het
Fam107a	C	T	14: 8,298,764 (GRCm38)	A121T	probably benign	Het
Gpatch11	C	T	17: 79,149,548 (GRCm39)	Q183*	probably null	Het
Gpr161	C	A	1: 165,133,982 (GRCm39)	F81L	possibly damaging	Het
Hook1	G	T	4: 95,890,765 (GRCm39)	E291D	probably benign	Het
Hsf2bp	T	A	17: 32,165,669 (GRCm39)	I309F	probably damaging	Het
Hspg2	T	C	4: 137,275,485 (GRCm39)		probably null	Het
Ide	T	G	19: 37,249,623 (GRCm39)	M910L	unknown	Het
Igdcc4	A	G	9: 65,036,077 (GRCm39)	Y712C	probably damaging	Het
Kmt2d	T	C	15: 98,750,949 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,581,518 (GRCm39)	Y768H	probably damaging	Het
Mageb3	A	G	2: 121,784,868 (GRCm39)	V278A	probably damaging	Het
Mapkbp1	G	A	2: 119,849,724 (GRCm39)	R732H	probably damaging	Het
Marveld2	T	C	13: 100,737,446 (GRCm39)	I148V	probably benign	Het
Mast1	G	C	8: 85,642,889 (GRCm39)	P969A	probably damaging	Het
Myh10	T	G	11: 68,689,206 (GRCm39)	V1261G	possibly damaging	Het
Nlrp1b	A	T	11: 71,108,102 (GRCm39)	H466Q	probably benign	Het
Npr2	T	G	4: 43,650,150 (GRCm39)	V905G	probably damaging	Het
Oip5	T	A	2: 119,440,808 (GRCm39)	I240F	unknown	Het
Or4c12	A	G	2: 89,773,929 (GRCm39)	C177R	probably damaging	Het
Or5k8	G	T	16: 58,644,516 (GRCm39)	Y185*	probably null	Het
Or8b12	T	A	9: 37,657,820 (GRCm39)	M130K	probably benign	Het
Pcsk2	G	A	2: 143,388,480 (GRCm39)	A24T	probably benign	Het
Plxnb1	G	T	9: 108,929,818 (GRCm39)	G225W	probably damaging	Het
Polr1a	T	C	6: 71,906,350 (GRCm39)	S389P	possibly damaging	Het
Prkca	A	G	11: 107,944,806 (GRCm39)	V175A	probably benign	Het
Rassf7	C	A	7: 140,796,973 (GRCm39)		probably null	Het
Rbl2	A	G	8: 91,805,560 (GRCm39)	I206V	probably benign	Het
Rpn1	T	G	6: 88,070,841 (GRCm39)	V237G	probably damaging	Het
Sec61a2	T	A	2: 5,881,351 (GRCm39)	I267F	possibly damaging	Het
Spop	G	T	11: 95,376,669 (GRCm39)	V241F	probably damaging	Het
Sptbn2	C	T	19: 4,775,978 (GRCm39)	A178V	probably damaging	Het
Stard13	A	G	5: 150,969,366 (GRCm39)	Y791H	probably benign	Het
Susd2	T	A	10: 75,478,052 (GRCm39)	I113L	probably benign	Het
Tcof1	T	C	18: 60,964,628 (GRCm39)	E666G	possibly damaging	Het
Tekt5	G	T	16: 10,179,254 (GRCm39)	A371E	possibly damaging	Het
Thap11	G	A	8: 106,582,548 (GRCm39)	E186K	probably damaging	Het
Tk2	A	T	8: 104,974,315 (GRCm39)	D45E	possibly damaging	Het
Tuba8	C	A	6: 121,199,872 (GRCm39)	Y185*	probably null	Het
Usp24	T	A	4: 106,273,244 (GRCm39)	Y2210N	probably damaging	Het
Wfdc8	A	T	2: 164,439,239 (GRCm39)		probably benign	Het
Zar1l	T	C	5: 150,436,365 (GRCm39)	N237S	probably damaging	Het
Zfp607b	A	T	7: 27,402,032 (GRCm39)	T163S	probably benign	Het
Zfp619	C	A	7: 39,184,577 (GRCm39)	H202Q	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
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'- CACTGGATCACAAAATGGTCACTTAAG -3'
(R):5'- GCCTGACATTGCATTGGTC -3'

Sequencing Primer
(F):5'- CCACAACTTCTGCTGCAT -3'
(R):5'- CTTGGGAAAGGTCTTGCATGAAG -3'

Posted On

2016-10-24