Mutagenetix > Incidental Mutation

Incidental Mutation 'R8293:Rnf130'

638809

Institutional Source

Beutler Lab

Gene Symbol

Rnf130

Ensembl Gene

ENSMUSG00000020376

Gene Name

ring finger protein 130

Synonyms

G1RP, 2510042A13Rik, G1RZFP

MMRRC Submission

067783-MU

Accession Numbers

Essential gene?

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

Stock #

R8293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49916173-50016546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49986623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 322 (D322E)

Ref Sequence

ENSEMBL: ENSMUSP00000099837 (fasta)

Gene Model

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

AlphaFold

Q8VEM1

Predicted Effect

probably benign
Transcript: ENSMUST00000054684
AA Change: D322E

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000056345
Gene: ENSMUSG00000020376
AA Change: D322E

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

probably benign
Transcript: ENSMUST00000102776
AA Change: D322E

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099837
Gene: ENSMUSG00000020376
AA Change: D322E

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

0.0708

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (58/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,864 (GRCm39)	S105P	possibly damaging	Het
Acsm1	T	G	7: 119,237,319 (GRCm39)	S211A	possibly damaging	Het
Adam4	T	A	12: 81,467,185 (GRCm39)	R479*	probably null	Het
Agap3	A	C	5: 24,692,883 (GRCm39)	S439R	probably damaging	Het
Arap1	A	T	7: 101,050,141 (GRCm39)	H1075L	probably benign	Het
Arhgef28	T	C	13: 98,079,029 (GRCm39)	E1299G	probably benign	Het
Bnip5	T	C	17: 29,121,864 (GRCm39)	K468E	probably benign	Het
Cc2d2a	A	T	5: 43,845,570 (GRCm39)	I329F	probably damaging	Het
Ccdc9b	T	A	2: 118,591,796 (GRCm39)	T115S	probably damaging	Het
Cd200r1	A	G	16: 44,610,084 (GRCm39)	N101S	probably benign	Het
Ces2b	A	C	8: 105,559,258 (GRCm39)	T40P	unknown	Het
Cfap221	A	G	1: 119,909,504 (GRCm39)	V156A	possibly damaging	Het
Chrm4	C	T	2: 91,758,563 (GRCm39)	P324S	probably benign	Het
Chrna1	T	A	2: 73,400,850 (GRCm39)	M227L	probably benign	Het
Cntln	A	G	4: 84,952,075 (GRCm39)	D639G	probably damaging	Het
Cts8	A	G	13: 61,401,882 (GRCm39)	V5A	probably benign	Het
Cxcl2	A	T	5: 91,052,088 (GRCm39)	T65S	probably damaging	Het
Cyp2c39	G	T	19: 39,552,411 (GRCm39)	R368L	probably benign	Het
D630023F18Rik	A	T	1: 65,147,939 (GRCm39)	S205T	probably benign	Het
Dagla	A	T	19: 10,229,401 (GRCm39)		probably null	Het
Dtnbp1	G	A	13: 45,084,615 (GRCm39)	T175I	probably benign	Het
Dtx3	A	G	10: 127,026,882 (GRCm39)	L332P	probably damaging	Het
E2f4	A	G	8: 106,024,451 (GRCm39)	T27A	probably damaging	Het
Ep400	A	G	5: 110,856,758 (GRCm39)	F1163L	unknown	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 75,874,624 (GRCm39)		probably benign	Het
Fbxo40	T	C	16: 36,790,387 (GRCm39)	D241G	probably benign	Het
Fus	T	C	7: 127,571,749 (GRCm39)	S184P	unknown	Het
Gabarap	C	A	11: 69,883,498 (GRCm39)	T87N	possibly damaging	Het
Gbp10	A	C	5: 105,372,235 (GRCm39)	V175G	probably damaging	Het
Gcm2	A	G	13: 41,256,646 (GRCm39)	Y368H	probably damaging	Het
Heca	A	G	10: 17,778,011 (GRCm39)	Y529H	probably damaging	Het
Incenp	G	A	19: 9,852,497 (GRCm39)	R714*	probably null	Het
Lvrn	C	A	18: 46,983,632 (GRCm39)	T125K	possibly damaging	Het
Ms4a6c	T	A	19: 11,455,660 (GRCm39)	S156R	probably benign	Het
Nab2	C	A	10: 127,502,266 (GRCm39)	R21L	possibly damaging	Het
Neb	A	T	2: 52,136,827 (GRCm39)	M3218K	probably benign	Het
Nwd2	A	G	5: 63,962,663 (GRCm39)	D749G	probably benign	Het
Nxpe5	A	T	5: 138,228,804 (GRCm39)	Q7L	probably benign	Het
Or10ak12	T	A	4: 118,666,939 (GRCm39)	T41S	probably benign	Het
Or4f62	A	T	2: 111,986,598 (GRCm39)	M101L	probably benign	Het
Or5p4	A	T	7: 107,680,269 (GRCm39)	E89D	probably benign	Het
Or8g26	A	G	9: 39,095,689 (GRCm39)	I72V	possibly damaging	Het
Pla2g5	A	G	4: 138,531,917 (GRCm39)	I29T	probably damaging	Het
Prpf31	C	T	7: 3,643,917 (GRCm39)	T499I	probably damaging	Het
Ros1	T	C	10: 51,964,014 (GRCm39)	N1770D	probably damaging	Het
Sacs	T	A	14: 61,428,548 (GRCm39)	D202E	probably damaging	Het
Simc1	A	G	13: 54,674,359 (GRCm39)	I902M	probably damaging	Het
Slc12a8	A	T	16: 33,361,348 (GRCm39)	M77L	probably benign	Het
Slc35f2	G	A	9: 53,724,224 (GRCm39)	G366D	probably benign	Het
Slc44a2	A	G	9: 21,264,984 (GRCm39)	D674G	probably damaging	Het
Smok2a	A	C	17: 13,445,791 (GRCm39)	E456A	probably benign	Het
Stip1	T	C	19: 7,011,618 (GRCm39)	N139S	probably benign	Het
Taar8c	C	T	10: 23,977,015 (GRCm39)	V266M	probably benign	Het
Tank	T	A	2: 61,474,758 (GRCm39)	I204N	possibly damaging	Het
Tcerg1	A	G	18: 42,694,020 (GRCm39)	T714A	probably benign	Het
Tenm3	A	T	8: 48,820,457 (GRCm39)	F334I	possibly damaging	Het
Ubr1	T	C	2: 120,693,202 (GRCm39)	I1735V	probably benign	Het
Vps13a	A	T	19: 16,645,969 (GRCm39)	S2023T	possibly damaging	Het
Wdfy4	T	C	14: 32,696,218 (GRCm39)	H2741R		Het
Wnt10a	G	T	1: 74,842,376 (GRCm39)	R284L	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
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
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
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'- TACAGTGGCCAGTTTGGAGC -3'
(R):5'- TACTGCAATGTTGATTTCACCCG -3'

Sequencing Primer
(F):5'- AGTGGCCAGTTTGGAGCTATGG -3'
(R):5'- TGATTTCACCCGTGCGAG -3'

Posted On

2020-07-28