Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01545:Rnf122'

90292

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf122

Ensembl Gene

ENSMUSG00000039328

Gene Name

ring finger protein 122

Synonyms

1110063C11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01545

Quality Score

Status

Chromosome

Chromosomal Location

31601848-31621510 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31618630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 126 (V126A)

Ref Sequence

ENSEMBL: ENSMUSP00000150893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046941] [ENSMUST00000217278]

AlphaFold

Q8BP31

Predicted Effect

probably damaging
Transcript: ENSMUST00000046941
AA Change: V125A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040478
Gene: ENSMUSG00000039328
AA Change: V125A

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
RING	92	132	3.64e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000217278
AA Change: V126A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. The encoded protein is localized to the endoplasmic reticulum and golgi apparatus, and may be associated with cell viability. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	G	A	11: 30,376,228 (GRCm39)	S213L	probably benign	Het
Adgrv1	A	G	13: 81,614,303 (GRCm39)	I4030T	possibly damaging	Het
Ap4b1	G	A	3: 103,720,143 (GRCm39)	R55H	probably benign	Het
Arap3	G	A	18: 38,123,889 (GRCm39)	R377C	probably damaging	Het
Atp6v1h	T	A	1: 5,159,282 (GRCm39)	M55K	probably benign	Het
B3galt4	A	C	17: 34,170,187 (GRCm39)	V17G	probably benign	Het
Cd79a	A	T	7: 24,600,691 (GRCm39)	M172L	probably benign	Het
Cry1	A	T	10: 85,020,226 (GRCm39)	L37H	possibly damaging	Het
D5Ertd615e	A	T	5: 45,326,755 (GRCm39)		noncoding transcript	Het
Dnah17	A	T	11: 118,010,394 (GRCm39)	L308Q	probably damaging	Het
Dnah7a	C	T	1: 53,557,941 (GRCm39)	A2158T	probably benign	Het
Dusp2	A	G	2: 127,179,695 (GRCm39)	T313A	probably benign	Het
Fam110c	T	C	12: 31,124,982 (GRCm39)	S315P	probably damaging	Het
Fcer2a	G	A	8: 3,733,598 (GRCm39)	R198*	probably null	Het
Fryl	G	A	5: 73,211,940 (GRCm39)	T2359M	probably damaging	Het
Gm14221	G	A	2: 160,410,303 (GRCm39)		noncoding transcript	Het
Gpc6	T	G	14: 118,202,242 (GRCm39)	L484R	probably damaging	Het
Igdcc3	G	A	9: 65,087,355 (GRCm39)	V298M	probably damaging	Het
Impg2	T	A	16: 56,046,080 (GRCm39)		probably benign	Het
Iqca1	T	A	1: 89,973,364 (GRCm39)	M803L	probably benign	Het
Itga4	T	C	2: 79,146,314 (GRCm39)		probably benign	Het
Katnip	A	G	7: 125,352,143 (GRCm39)		probably null	Het
Kidins220	T	C	12: 25,090,459 (GRCm39)	F1141S	possibly damaging	Het
Kif7	A	G	7: 79,352,026 (GRCm39)	I912T	probably damaging	Het
Klhl38	G	A	15: 58,185,854 (GRCm39)	R292W	probably damaging	Het
Lama3	A	G	18: 12,574,188 (GRCm39)	D590G	probably benign	Het
Map4k4	T	C	1: 40,053,389 (GRCm39)		probably benign	Het
Mbd4	A	T	6: 115,827,758 (GRCm39)	D39E	probably damaging	Het
Mrm2	A	G	5: 140,317,010 (GRCm39)	V8A	probably benign	Het
Myod1	A	T	7: 46,026,539 (GRCm39)	E148V	probably damaging	Het
Or5d47	A	C	2: 87,804,895 (GRCm39)	I38S	probably benign	Het
Pdcd10	A	T	3: 75,448,475 (GRCm39)	F30I	possibly damaging	Het
Ptcd1	T	A	5: 145,096,346 (GRCm39)	H249L	probably damaging	Het
Ptcd3	A	T	6: 71,865,561 (GRCm39)	D451E	probably benign	Het
Rab44	C	A	17: 29,366,351 (GRCm39)	S680R	unknown	Het
Rad21l	A	T	2: 151,497,084 (GRCm39)	D340E	probably benign	Het
Ranbp2	T	C	10: 58,314,703 (GRCm39)	F1808L	possibly damaging	Het
Slc25a47	G	T	12: 108,820,142 (GRCm39)	V49L	probably benign	Het
Slc36a2	T	C	11: 55,075,633 (GRCm39)		probably null	Het
Sorl1	G	A	9: 41,955,252 (GRCm39)	R668W	probably damaging	Het
Tbx19	T	A	1: 164,966,725 (GRCm39)	N383I	possibly damaging	Het
Tenm4	A	G	7: 96,523,510 (GRCm39)	H1676R	probably benign	Het
Tgm5	G	T	2: 120,883,289 (GRCm39)	R351S	probably damaging	Het
Tmem106b	A	G	6: 13,071,842 (GRCm39)	S34G	probably benign	Het
Trmo	C	T	4: 46,386,169 (GRCm39)	G119R	probably damaging	Het
Ubr4	G	A	4: 139,170,140 (GRCm39)		probably benign	Het
Wfdc11	A	G	2: 164,507,365 (GRCm39)		probably null	Het
Xrn2	T	A	2: 146,880,099 (GRCm39)	I474K	probably benign	Het
Zfp827	A	G	8: 79,797,063 (GRCm39)	K383R	probably damaging	Het

Other mutations in Rnf122

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01352:Rnf122	APN	8	31,614,908 (GRCm39)	nonsense	probably null
R0109:Rnf122	UTSW	8	31,614,877 (GRCm39)	splice site	probably benign
R1263:Rnf122	UTSW	8	31,602,177 (GRCm39)	start codon destroyed	probably null	0.01
R1961:Rnf122	UTSW	8	31,614,874 (GRCm39)	splice site	probably benign
R2164:Rnf122	UTSW	8	31,602,192 (GRCm39)	nonsense	probably null
R4369:Rnf122	UTSW	8	31,602,177 (GRCm39)	start codon destroyed	probably null	0.00
R4488:Rnf122	UTSW	8	31,618,283 (GRCm39)	missense	probably damaging	0.98
R4964:Rnf122	UTSW	8	31,602,177 (GRCm39)	start codon destroyed	probably null	0.00
R6983:Rnf122	UTSW	8	31,608,488 (GRCm39)	missense	probably benign
R7445:Rnf122	UTSW	8	31,608,528 (GRCm39)	missense	possibly damaging	0.89
R8049:Rnf122	UTSW	8	31,618,608 (GRCm39)	missense	probably damaging	0.98

Posted On

2013-12-03