Mutagenetix > Incidental Mutation

Incidental Mutation 'R0358:Rnf130'

29951

Institutional Source

Beutler Lab

Gene Symbol

Rnf130

Ensembl Gene

ENSMUSG00000020376

Gene Name

ring finger protein 130

Synonyms

G1RP, 2510042A13Rik, G1RZFP

MMRRC Submission

038564-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R0358 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49916173-50016546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49962109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 185 (M185K)

Ref Sequence

ENSEMBL: ENSMUSP00000056345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054684] [ENSMUST00000102776]

AlphaFold

Q8VEM1

Predicted Effect

probably benign
Transcript: ENSMUST00000054684
AA Change: M185K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000056345
Gene: ENSMUSG00000020376
AA Change: M185K

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
Pfam:PA	65	169	4.6e-13	PFAM
transmembrane domain	195	217	N/A	INTRINSIC
RING	264	304	5.51e-7	SMART
low complexity region	341	354	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083483

Predicted Effect

probably benign
Transcript: ENSMUST00000102776
AA Change: M185K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099837
Gene: ENSMUSG00000020376
AA Change: M185K

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
Pfam:PA	69	167	8.1e-14	PFAM
transmembrane domain	195	217	N/A	INTRINSIC
RING	264	304	5.51e-7	SMART
low complexity region	341	354	N/A	INTRINSIC
transmembrane domain	387	409	N/A	INTRINSIC

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.5%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth factor withdrawal-induced apoptosis of myeloid precursor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	G	A	17: 79,935,585 (GRCm39)		probably benign	Het
Abca16	A	T	7: 120,143,939 (GRCm39)	K1651N	probably benign	Het
Abcb1b	T	C	5: 8,871,423 (GRCm39)	S326P	probably benign	Het
Ache	A	G	5: 137,288,635 (GRCm39)	T114A	probably benign	Het
Akap3	T	A	6: 126,843,775 (GRCm39)	V798D	probably damaging	Het
Ankle1	A	G	8: 71,860,189 (GRCm39)	T256A	probably damaging	Het
Aqp4	T	C	18: 15,531,302 (GRCm39)	N153S	probably benign	Het
Arhgap23	G	A	11: 97,354,414 (GRCm39)	V265M	probably damaging	Het
Arhgef25	A	T	10: 127,020,322 (GRCm39)	M326K	probably damaging	Het
Atp6v1c2	T	C	12: 17,334,961 (GRCm39)		probably benign	Het
Cars1	A	T	7: 143,142,219 (GRCm39)		probably benign	Het
Cep83	A	T	10: 94,555,593 (GRCm39)	M96L	probably benign	Het
Cfap46	A	G	7: 139,231,449 (GRCm39)		probably benign	Het
Cnnm3	T	A	1: 36,560,303 (GRCm39)	S608T	probably damaging	Het
Cul7	G	A	17: 46,974,670 (GRCm39)		probably null	Het
Dhrs2	G	A	14: 55,473,574 (GRCm39)	V78M	probably damaging	Het
Dhx38	A	T	8: 110,279,094 (GRCm39)	D1051E	probably benign	Het
Eftud2	A	G	11: 102,755,627 (GRCm39)		probably benign	Het
Egln3	T	C	12: 54,250,082 (GRCm39)	E89G	possibly damaging	Het
Eif2ak4	A	G	2: 118,294,410 (GRCm39)		probably null	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Fsip2	A	T	2: 82,813,677 (GRCm39)	N3332I	possibly damaging	Het
Gbp2b	A	T	3: 142,312,550 (GRCm39)	E311V	probably damaging	Het
Gcnt2	G	T	13: 41,014,329 (GRCm39)	A167S	probably damaging	Het
Gm9797	A	T	10: 11,485,088 (GRCm39)		noncoding transcript	Het
Gpatch3	A	G	4: 133,305,215 (GRCm39)		probably null	Het
Gpr22	T	C	12: 31,759,981 (GRCm39)	N47S	probably benign	Het
Il18rap	A	T	1: 40,588,202 (GRCm39)	H600L	possibly damaging	Het
Larp7	A	G	3: 127,340,737 (GRCm39)		probably null	Het
Mep1a	A	G	17: 43,789,841 (GRCm39)	Y490H	possibly damaging	Het
Mrgprh	T	A	17: 13,096,237 (GRCm39)	V159D	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nrbp1	T	A	5: 31,402,231 (GRCm39)	I64N	probably damaging	Het
Nup214	G	A	2: 31,894,312 (GRCm39)		probably null	Het
Or10d1b	A	G	9: 39,613,297 (GRCm39)	I256T	possibly damaging	Het
Or13a21	G	T	7: 139,998,856 (GRCm39)	L277M	probably damaging	Het
Or2o1	T	A	11: 49,051,071 (GRCm39)	C77S	probably benign	Het
Or4k15b	A	T	14: 50,272,743 (GRCm39)	L39Q	probably damaging	Het
Pef1	A	G	4: 130,021,180 (GRCm39)	T245A	probably damaging	Het
Phrf1	A	G	7: 140,838,217 (GRCm39)		probably benign	Het
Ppig	A	G	2: 69,573,942 (GRCm39)		probably benign	Het
Ppp1r8	G	T	4: 132,562,039 (GRCm39)	F60L	probably damaging	Het
Psmd11	G	A	11: 80,353,510 (GRCm39)		probably benign	Het
Ptk6	G	T	2: 180,840,315 (GRCm39)	H230Q	probably benign	Het
Ptprd	T	C	4: 75,863,226 (GRCm39)	Y1496C	probably damaging	Het
Rhbdl3	G	T	11: 80,244,457 (GRCm39)	W388L	probably damaging	Het
S100a13	A	T	3: 90,423,299 (GRCm39)	I97F	probably damaging	Het
Slc22a16	T	G	10: 40,463,488 (GRCm39)		probably null	Het
Tcte1	A	T	17: 45,846,211 (GRCm39)	T272S	probably benign	Het
Terf1	T	C	1: 15,876,062 (GRCm39)	V54A	possibly damaging	Het
Tmem63a	T	A	1: 180,783,988 (GRCm39)	N189K	probably benign	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Trim66	G	A	7: 109,059,383 (GRCm39)	Q954*	probably null	Het
Trpv4	A	G	5: 114,768,493 (GRCm39)	F525S	probably damaging	Het
Ttll7	A	G	3: 146,649,871 (GRCm39)	T634A	probably benign	Het
Tut7	T	C	13: 59,929,918 (GRCm39)	D47G	probably damaging	Het
Ush2a	T	G	1: 188,269,977 (GRCm39)	N1741K	possibly damaging	Het
Wdr87-ps	A	T	7: 29,231,636 (GRCm39)		noncoding transcript	Het
Zfp451	T	A	1: 33,816,810 (GRCm39)	H163L	probably damaging	Het

Other mutations in Rnf130

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Rnf130	APN	11	49,984,623 (GRCm39)	missense	probably damaging	1.00
IGL02364:Rnf130	APN	11	49,986,667 (GRCm39)	missense	probably benign
IGL02948:Rnf130	APN	11	49,943,598 (GRCm39)	splice site	probably benign
R0145:Rnf130	UTSW	11	49,962,046 (GRCm39)	missense	possibly damaging	0.89
R0570:Rnf130	UTSW	11	49,986,703 (GRCm39)	missense	possibly damaging	0.66
R0786:Rnf130	UTSW	11	49,978,264 (GRCm39)	missense	probably damaging	1.00
R1709:Rnf130	UTSW	11	49,978,213 (GRCm39)	missense	possibly damaging	0.80
R2312:Rnf130	UTSW	11	49,978,290 (GRCm39)	critical splice donor site	probably null
R2972:Rnf130	UTSW	11	49,984,627 (GRCm39)	nonsense	probably null
R4353:Rnf130	UTSW	11	49,978,267 (GRCm39)	missense	possibly damaging	0.83
R4398:Rnf130	UTSW	11	49,962,205 (GRCm39)	missense	probably benign	0.08
R5162:Rnf130	UTSW	11	49,943,722 (GRCm39)	missense	probably damaging	1.00
R5236:Rnf130	UTSW	11	49,986,805 (GRCm39)	missense	probably damaging	0.99
R5869:Rnf130	UTSW	11	49,976,642 (GRCm39)	splice site	probably null
R6432:Rnf130	UTSW	11	49,986,617 (GRCm39)	nonsense	probably null
R6865:Rnf130	UTSW	11	49,962,091 (GRCm39)	missense	probably damaging	1.00
R8209:Rnf130	UTSW	11	49,962,097 (GRCm39)	missense	probably benign	0.44
R8226:Rnf130	UTSW	11	49,962,097 (GRCm39)	missense	probably benign	0.44
R8293:Rnf130	UTSW	11	49,986,623 (GRCm39)	missense	probably benign	0.06
R8508:Rnf130	UTSW	11	49,978,264 (GRCm39)	missense	probably damaging	1.00
R9666:Rnf130	UTSW	11	49,986,618 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCACTGTACATGTTCTCATGCCTG -3'
(R):5'- ACTGGTTAGCTCACCTGGTTCCTG -3'

Sequencing Primer
(F):5'- ATGCCTGTCAGTTTACACAGC -3'
(R):5'- GTCCCGAGCATTTGTGTACC -3'

Posted On

2013-04-24