Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02253:Rnf222'

286517

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf222

Ensembl Gene

ENSMUSG00000046490

Gene Name

ring finger protein 222

Synonyms

9930039A11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL02253

Quality Score

Status

Chromosome

Chromosomal Location

68779379-68786603 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68783862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 143 (I143N)

Ref Sequence

ENSEMBL: ENSMUSP00000067364 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065213]

AlphaFold

Q8CEF8

Predicted Effect

probably damaging
Transcript: ENSMUST00000065213
AA Change: I143N

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

SMART Domains

Protein: ENSMUSP00000067364
Gene: ENSMUSG00000046490
AA Change: I143N

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
RING	14	64	1.5e-10	SMART
low complexity region	161	174	N/A	INTRINSIC
transmembrane domain	185	207	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,807,182 (GRCm39)	E76G	probably benign	Het
Adamtsl2	A	T	2: 26,988,709 (GRCm39)	T587S	possibly damaging	Het
Adgre4	T	A	17: 56,067,573 (GRCm39)	M9K	probably benign	Het
Aff2	T	A	X: 68,874,397 (GRCm39)	V447E	probably benign	Het
Arhgef10l	G	T	4: 140,271,595 (GRCm39)	S425*	probably null	Het
Cabcoco1	T	C	10: 68,272,107 (GRCm39)		probably null	Het
Calcr	T	A	6: 3,707,523 (GRCm39)	H259L	probably benign	Het
Cdc42bpa	T	A	1: 179,859,161 (GRCm39)		probably benign	Het
Cntnap5b	C	T	1: 100,091,936 (GRCm39)	H540Y	possibly damaging	Het
Cyp2a22	A	T	7: 26,637,662 (GRCm39)		probably benign	Het
Ddx3x	T	C	X: 13,151,207 (GRCm39)		probably benign	Het
Dnajc11	T	A	4: 152,034,976 (GRCm39)	Y28*	probably null	Het
Dock11	T	C	X: 35,304,781 (GRCm39)	F1472S	probably damaging	Het
Dusp18	T	C	11: 3,847,576 (GRCm39)	*189Q	probably null	Het
Dzip3	A	T	16: 48,765,287 (GRCm39)	Y476N	probably benign	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Evc2	T	A	5: 37,535,771 (GRCm39)		probably benign	Het
Fam151b	A	T	13: 92,614,435 (GRCm39)	Y18N	probably damaging	Het
Gk5	T	C	9: 96,019,824 (GRCm39)	F120S	probably damaging	Het
Itprid2	A	G	2: 79,490,788 (GRCm39)	T969A	probably damaging	Het
Kcna3	T	C	3: 106,944,727 (GRCm39)	L330P	probably damaging	Het
Kctd20	A	G	17: 29,180,460 (GRCm39)	N7S	probably benign	Het
Kmt2b	G	T	7: 30,281,152 (GRCm39)	R1276S	probably damaging	Het
Kmt2d	C	T	15: 98,756,056 (GRCm39)		probably benign	Het
L2hgdh	G	A	12: 69,752,534 (GRCm39)		probably benign	Het
Lifr	T	G	15: 7,220,085 (GRCm39)	V905G	probably damaging	Het
Mcm3ap	T	A	10: 76,305,899 (GRCm39)	V4E	probably benign	Het
Nrip3	A	C	7: 109,360,951 (GRCm39)		probably null	Het
Nsun2	T	G	13: 69,767,658 (GRCm39)	V204G	possibly damaging	Het
Nup54	A	G	5: 92,565,310 (GRCm39)		probably null	Het
Or5p69	T	A	7: 107,967,261 (GRCm39)	V188E	possibly damaging	Het
Or8c16	T	A	9: 38,131,031 (GRCm39)	M304K	probably benign	Het
Pdcl3	A	G	1: 39,034,011 (GRCm39)	D51G	probably benign	Het
Pdlim1	T	C	19: 40,218,974 (GRCm39)	E219G	probably damaging	Het
Pld4	A	C	12: 112,733,141 (GRCm39)	K239T	probably damaging	Het
Rgsl1	T	C	1: 153,669,513 (GRCm39)	Y291C	probably damaging	Het
Rnf213	C	A	11: 119,331,476 (GRCm39)	H2228Q	probably benign	Het
Sirt7	A	G	11: 120,511,693 (GRCm39)	I13T	probably benign	Het
Slfn10-ps	A	G	11: 82,919,890 (GRCm39)		noncoding transcript	Het
Slx4ip	T	C	2: 136,842,195 (GRCm39)		probably null	Het
Spata18	G	T	5: 73,825,939 (GRCm39)	S164I	possibly damaging	Het
Spmip2	C	A	3: 79,356,741 (GRCm39)		probably benign	Het
Spmip2	C	A	3: 79,356,742 (GRCm39)		probably benign	Het
Stk26	T	C	X: 49,975,565 (GRCm39)	L212P	probably damaging	Het
Tmsb15a	T	C	X: 134,620,451 (GRCm39)	I56V	probably benign	Het
Tnrc6b	T	A	15: 80,760,742 (GRCm39)	S150T	probably damaging	Het
Tubb3	T	C	8: 124,147,559 (GRCm39)	M164T	probably benign	Het
Zfp516	A	G	18: 83,012,622 (GRCm39)	D1125G	probably benign	Het
Zyg11a	A	C	4: 108,040,892 (GRCm39)	V685G	probably null	Het

Other mutations in Rnf222

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3418:Rnf222	UTSW	11	68,783,982 (GRCm39)	missense	probably damaging	0.99
R4791:Rnf222	UTSW	11	68,783,845 (GRCm39)	missense	probably damaging	1.00
R4792:Rnf222	UTSW	11	68,783,845 (GRCm39)	missense	probably damaging	1.00
R5694:Rnf222	UTSW	11	68,783,723 (GRCm39)	missense	probably benign	0.00
R5806:Rnf222	UTSW	11	68,783,789 (GRCm39)	missense	possibly damaging	0.69

Posted On

2015-04-16