Mutagenetix > Incidental Mutation

Incidental Mutation 'R4398:Rnf130'

325594

Institutional Source

Beutler Lab

Gene Symbol

Rnf130

Ensembl Gene

ENSMUSG00000020376

Gene Name

ring finger protein 130

Synonyms

G1RP, 2510042A13Rik, G1RZFP

MMRRC Submission

041130-MU

Accession Numbers

Essential gene?

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

Stock #

R4398 (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 49962205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 217 (F217Y)

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: F217Y

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000056345
Gene: ENSMUSG00000020376
AA Change: F217Y

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: F217Y

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000099837
Gene: ENSMUSG00000020376
AA Change: F217Y

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

0.0603

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

96% (53/55)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	C	A	15: 94,231,576 (GRCm39)	R871L	possibly damaging	Het
Adcy5	G	A	16: 35,089,363 (GRCm39)	C520Y	probably damaging	Het
AI661453	G	A	17: 47,779,042 (GRCm39)		probably benign	Het
Bptf	T	C	11: 107,001,670 (GRCm39)	K481E	probably damaging	Het
Cnot10	T	A	9: 114,460,949 (GRCm39)	K74*	probably null	Het
Ctc1	C	T	11: 68,913,697 (GRCm39)	P200S	probably damaging	Het
Dact1	T	C	12: 71,363,959 (GRCm39)	Y210H	probably damaging	Het
Dbn1	T	C	13: 55,623,194 (GRCm39)	T430A	probably benign	Het
Dmd	A	C	X: 82,765,624 (GRCm39)	T657P	probably benign	Het
Efnb2	C	T	8: 8,670,832 (GRCm39)	R256H	possibly damaging	Het
Eif4a1	T	C	11: 69,560,070 (GRCm39)	I116M	possibly damaging	Het
F730035P03Rik	A	T	7: 99,429,475 (GRCm39)		noncoding transcript	Het
Fbn1	C	T	2: 125,239,701 (GRCm39)	V329I	probably benign	Het
Gpr20	G	A	15: 73,568,125 (GRCm39)	T88I	probably benign	Het
Herc1	T	G	9: 66,386,735 (GRCm39)	V3783G	probably benign	Het
Khdc1a	A	G	1: 21,420,617 (GRCm39)	D79G	possibly damaging	Het
Klk1b16	A	T	7: 43,790,851 (GRCm39)	I218F	probably damaging	Het
Malrd1	C	T	2: 16,155,594 (GRCm39)	T2001I	unknown	Het
Mia3	A	G	1: 183,111,733 (GRCm39)	S556P	probably damaging	Het
Myo3a	T	A	2: 22,467,854 (GRCm39)	D369E	probably benign	Het
Nelfa	T	C	5: 34,058,623 (GRCm39)	D279G	possibly damaging	Het
Ntrk3	A	T	7: 77,900,517 (GRCm39)	C607*	probably null	Het
Or13a20	T	C	7: 140,232,741 (GRCm39)	V283A	possibly damaging	Het
Pclo	A	T	5: 14,825,380 (GRCm39)	Q1371L	probably damaging	Het
Pdzd2	A	T	15: 12,376,061 (GRCm39)	V1358E	probably benign	Het
Pgr	T	C	9: 8,903,750 (GRCm39)		probably null	Het
Prag1	A	G	8: 36,570,809 (GRCm39)	D464G	probably damaging	Het
Prickle4	A	G	17: 48,001,456 (GRCm39)		probably benign	Het
Prim2	A	G	1: 33,551,192 (GRCm39)	Y309H	probably damaging	Het
Prkaa1	A	G	15: 5,206,642 (GRCm39)	Q464R	possibly damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rint1	T	A	5: 23,999,445 (GRCm39)	I78K	possibly damaging	Het
Smad7	T	C	18: 75,527,234 (GRCm39)	V360A	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Stag1	A	G	9: 100,838,659 (GRCm39)		probably benign	Het
Tlr12	T	A	4: 128,509,988 (GRCm39)	D754V	probably benign	Het
Tmf1	G	A	6: 97,155,857 (GRCm39)	P43L	probably damaging	Het
Togaram1	A	G	12: 65,027,630 (GRCm39)	N873S	probably benign	Het
Tsn	C	T	1: 118,238,799 (GRCm39)		probably benign	Het
Ubn1	A	G	16: 4,882,289 (GRCm39)	K250R	probably damaging	Het
Vmn1r25	A	T	6: 57,955,812 (GRCm39)	V159D	probably damaging	Het
Vmn2r89	T	C	14: 51,689,551 (GRCm39)	L18P	probably damaging	Het
Vps8	T	G	16: 21,323,216 (GRCm39)	N689K	probably damaging	Het
Ythdc1	T	A	5: 86,963,513 (GRCm39)	D30E	possibly damaging	Het
Ythdc1	G	T	5: 86,983,679 (GRCm39)		probably benign	Het
Zfp407	G	A	18: 84,580,856 (GRCm39)	Q86*	probably null	Het
Zfp521	C	T	18: 13,979,601 (GRCm39)	E271K	probably benign	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
R0358:Rnf130	UTSW	11	49,962,109 (GRCm39)	missense	probably benign	0.01
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
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'- CAGGCACGGGAGATATTATTGC -3'
(R):5'- CGAGTGCAGGTATTACAGGGTAC -3'

Sequencing Primer
(F):5'- CACGGGAGATATTATTGCTGTCATG -3'
(R):5'- TGCAGGTATTACAGGGTACAGCAC -3'

Posted On

2015-07-06