Mutagenetix > Incidental Mutations

Incidental Mutation 'R6031:Rnf113a2'

480420

Institutional Source

Beutler Lab

Gene Symbol

Rnf113a2

Ensembl Gene

ENSMUSG00000098134

Gene Name

ring finger protein 113A2

Synonyms

2310020H19Rik

MMRRC Submission

044203-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R6031 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84417196-84418578 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84417990 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 219 (F219L)

Ref Sequence

ENSEMBL: ENSMUSP00000138536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081828] [ENSMUST00000151789] [ENSMUST00000153540] [ENSMUST00000183146]

AlphaFold

Q14B01

Predicted Effect

probably benign
Transcript: ENSMUST00000081828

SMART Domains

Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265

Domain	Start	End	E-Value	Type
low complexity region	4	29	N/A	INTRINSIC
Pfam:DUF4515	83	276	1.8e-44	PFAM
coiled coil region	277	308	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151789

SMART Domains

Protein: ENSMUSP00000115708
Gene: ENSMUSG00000057265

Domain	Start	End	E-Value	Type
Pfam:DUF4515	1	138	6.7e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153540

SMART Domains

Protein: ENSMUSP00000114625
Gene: ENSMUSG00000057265

Domain	Start	End	E-Value	Type
Pfam:DUF4515	1	105	3.9e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000183146
AA Change: F219L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138536
Gene: ENSMUSG00000098134
AA Change: F219L

Domain	Start	End	E-Value	Type
low complexity region	39	52	N/A	INTRINSIC
ZnF_C3H1	196	223	1.8e-7	SMART
RING	262	299	4.05e-5	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 96.7%
20x: 88.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is identified in various tumor suppressors, DNA repair genes and cytokine receptor-associated molecules, and is probably involved in mediating protein-protein interactions. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 8,995,252	Y304H	possibly damaging	Het
Add2	A	G	6: 86,098,673	E268G	probably damaging	Het
Akr1b3	A	C	6: 34,312,674	V67G	probably benign	Het
Alms1	A	T	6: 85,622,955	N1588Y	probably damaging	Het
Arhgap23	A	T	11: 97,476,139	D1082V	probably damaging	Het
Asb6	A	G	2: 30,824,195	V301A	probably benign	Het
Ascc3	C	T	10: 50,842,183	R1991*	probably null	Het
Atg7	T	A	6: 114,671,233	C31S	probably benign	Het
Camsap2	A	T	1: 136,280,438	N1105K	possibly damaging	Het
Ccdc109b	A	G	3: 129,926,389	Y152H	probably damaging	Het
Ccdc125	C	T	13: 100,684,369		probably null	Het
Ccdc63	T	C	5: 122,129,736	I56V	possibly damaging	Het
Cpd	T	C	11: 76,790,888	E1143G	probably benign	Het
Cpt1a	T	A	19: 3,371,556		probably null	Het
Creb3l2	A	T	6: 37,334,434	D473E	probably benign	Het
Crocc	A	T	4: 141,034,357		probably null	Het
Ctsd	A	T	7: 142,376,714	C364S	probably damaging	Het
Disp2	G	T	2: 118,789,794	V336L	probably benign	Het
Efr3b	A	G	12: 3,967,106	I782T	possibly damaging	Het
Fam98a	A	G	17: 75,539,432	V230A	probably damaging	Het
Fat3	T	A	9: 15,988,492	T3082S	probably benign	Het
Frmd3	T	C	4: 74,187,451	Y445H	probably damaging	Het
Galt	G	A	4: 41,757,202	R185Q	probably benign	Het
Gatb	T	C	3: 85,613,511	I309T	possibly damaging	Het
Gfi1b	G	A	2: 28,613,808	Q127*	probably null	Het
Gfpt1	C	A	6: 87,086,320	T563N	probably damaging	Het
Gria1	A	G	11: 57,217,782	D237G	probably damaging	Het
Hspbp1	A	T	7: 4,663,466	V305D	probably benign	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Iars	T	C	13: 49,705,831	V9A	probably damaging	Het
Ipo4	G	A	14: 55,632,139	P355S	probably damaging	Het
Jade2	G	T	11: 51,826,586	C314*	probably null	Het
Kri1	T	C	9: 21,275,269	E597G	probably benign	Het
Med23	C	T	10: 24,903,748	R542*	probably null	Het
Ndc80	T	C	17: 71,511,488	N291S	probably benign	Het
Nop2	T	C	6: 125,133,566		probably null	Het
Nrxn1	T	C	17: 90,588,790	N984S	probably damaging	Het
Ntm	A	C	9: 29,009,375	L86R	probably damaging	Het
Numa1	T	A	7: 102,012,012	D1847E	possibly damaging	Het
Odf2l	A	G	3: 145,139,863	Q334R	probably damaging	Het
Olfr1238	T	A	2: 89,406,972	T36S	probably damaging	Het
Olfr1333	A	T	4: 118,830,391		probably null	Het
Olfr199	T	C	16: 59,215,933	R227G	probably benign	Het
Olfr522	A	T	7: 140,162,809	V47E	possibly damaging	Het
Olfr706	C	T	7: 106,885,927	V297I	possibly damaging	Het
Olfr772	A	G	10: 129,174,355	V222A	probably benign	Het
Pcdhb19	A	T	18: 37,497,723	K190N	probably damaging	Het
Pdik1l	A	G	4: 134,279,041	F197L	probably damaging	Het
Rnf208	A	C	2: 25,243,764	T157P	probably damaging	Het
Scn8a	A	T	15: 100,983,984	D644V	probably damaging	Het
Thbs3	T	A	3: 89,218,094	C204S	probably damaging	Het
Tlr3	A	G	8: 45,398,528	I444T	probably damaging	Het
Tmem206	A	G	1: 191,340,840	R153G	probably benign	Het
Trpm8	A	T	1: 88,354,469	I696F	possibly damaging	Het
Ttn	A	T	2: 76,830,597	V7422D	possibly damaging	Het
Ufl1	A	G	4: 25,278,038	V139A	probably benign	Het
Uggt2	A	T	14: 119,070,826	V381D	probably benign	Het
Vgll3	T	A	16: 65,839,481	Y173N	probably damaging	Het
Vmn1r9	A	G	6: 57,071,173	T78A	probably benign	Het
Vps13b	T	A	15: 35,471,968	L806M	probably damaging	Het
Vps13d	A	C	4: 145,168,509	H394Q	probably benign	Het
Wdr53	T	A	16: 32,256,718	V247D	probably damaging	Het
Wdr81	A	T	11: 75,447,869	L1488Q	probably damaging	Het
Zc3h6	A	G	2: 128,967,812	D3G	possibly damaging	Het
Zfp93	G	T	7: 24,276,300	C570F	probably damaging	Het
Zfp943	C	T	17: 21,993,376	T481I	probably benign	Het

Other mutations in Rnf113a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03059:Rnf113a2	APN	12	84417476	missense	possibly damaging	0.69
IGL03123:Rnf113a2	APN	12	84418276	missense	probably benign	0.21
R4826:Rnf113a2	UTSW	12	84417614	missense	probably benign
R5194:Rnf113a2	UTSW	12	84417337	start codon destroyed	probably null	0.08
R6031:Rnf113a2	UTSW	12	84417990	missense	probably damaging	1.00
R7102:Rnf113a2	UTSW	12	84417771	missense	probably damaging	1.00
R7246:Rnf113a2	UTSW	12	84417677	missense	possibly damaging	0.81
R7307:Rnf113a2	UTSW	12	84418179	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-06-26