Mutagenetix > Incidental Mutation

Incidental Mutation 'R8209:Rnf130'

636076

Institutional Source

Beutler Lab

Gene Symbol

Rnf130

Ensembl Gene

ENSMUSG00000020376

Gene Name

ring finger protein 130

Synonyms

G1RP, 2510042A13Rik, G1RZFP

MMRRC Submission

067632-MU

Accession Numbers

Essential gene?

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

Stock #

R8209 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49916173-50016546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49962097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 181 (V181A)

Ref Sequence

ENSEMBL: ENSMUSP00000099837 (fasta)

Gene Model

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

AlphaFold

Q8VEM1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054684
AA Change: V181A

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000056345
Gene: ENSMUSG00000020376
AA Change: V181A

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: V181A

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099837
Gene: ENSMUSG00000020376
AA Change: V181A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,094,195 (GRCm39)	N27S	probably damaging	Het
Akr1b1	G	C	6: 34,288,867 (GRCm39)	T114R	probably damaging	Het
Alx4	T	C	2: 93,505,696 (GRCm39)	M266T	possibly damaging	Het
Arhgap21	C	T	2: 20,876,556 (GRCm39)	D820N	probably damaging	Het
Clec4a1	A	G	6: 122,907,773 (GRCm39)	S154G	probably damaging	Het
Col11a2	T	C	17: 34,266,253 (GRCm39)		probably null	Het
Dnaaf2	A	T	12: 69,244,866 (GRCm39)	V65E	probably damaging	Het
Dnah14	A	G	1: 181,623,110 (GRCm39)	E3996G	possibly damaging	Het
Dsg1b	A	G	18: 20,541,947 (GRCm39)	Y818C	probably benign	Het
Dzip3	C	T	16: 48,798,307 (GRCm39)	G133S	probably damaging	Het
Efcab6	T	C	15: 83,788,456 (GRCm39)	Y946C	probably benign	Het
Eprs1	A	G	1: 185,139,812 (GRCm39)	E967G	possibly damaging	Het
F5	T	C	1: 164,021,959 (GRCm39)	V1478A	probably benign	Het
Fchsd2	C	T	7: 100,931,679 (GRCm39)	P745L	probably damaging	Het
Gart	T	C	16: 91,425,041 (GRCm39)	I661V	possibly damaging	Het
Gm14295	T	A	2: 176,502,970 (GRCm39)	I820K	unknown	Het
Grb10	G	T	11: 11,901,533 (GRCm39)	L214M	probably damaging	Het
Gria2	A	G	3: 80,616,764 (GRCm39)	V396A	probably benign	Het
Il17rc	C	A	6: 113,449,771 (GRCm39)	Q126K	probably benign	Het
Ipo8	A	G	6: 148,698,176 (GRCm39)	I615T	possibly damaging	Het
Irak4	T	A	15: 94,456,244 (GRCm39)	L277Q	probably damaging	Het
Islr	T	C	9: 58,065,340 (GRCm39)	S56G	probably damaging	Het
Krt78	A	T	15: 101,855,480 (GRCm39)	M777K	possibly damaging	Het
Lrch4	A	G	5: 137,637,997 (GRCm39)	H93R		Het
Muc21	T	C	17: 35,930,599 (GRCm39)		probably benign	Het
Nbeal1	A	T	1: 60,316,336 (GRCm39)	K1846N	probably damaging	Het
Nedd1	T	A	10: 92,527,797 (GRCm39)	M466L	probably benign	Het
Nup107	T	C	10: 117,593,836 (GRCm39)	K786E	probably benign	Het
Or51f23b	T	C	7: 102,402,950 (GRCm39)	Y62C	probably benign	Het
Or5ak25	T	A	2: 85,268,981 (GRCm39)	I174F	probably damaging	Het
Or5m12	T	C	2: 85,734,547 (GRCm39)	I284V	probably benign	Het
Phc2	T	C	4: 128,603,299 (GRCm39)	L143P	probably benign	Het
Pkhd1l1	A	G	15: 44,437,803 (GRCm39)	N3533D	possibly damaging	Het
Plpp1	A	T	13: 113,003,465 (GRCm39)	T230S	probably benign	Het
Prokr2	C	A	2: 132,215,961 (GRCm39)	A167S	probably damaging	Het
Qser1	C	T	2: 104,619,070 (GRCm39)	A491T	probably benign	Het
Rc3h2	T	A	2: 37,267,001 (GRCm39)	Y1040F	possibly damaging	Het
Rgl2	C	T	17: 34,151,501 (GRCm39)	L182F	possibly damaging	Het
Scn7a	T	G	2: 66,531,204 (GRCm39)	I558L	possibly damaging	Het
Shtn1	T	C	19: 58,992,328 (GRCm39)	I417V	possibly damaging	Het
Slco1a5	T	G	6: 142,208,408 (GRCm39)	N128H	probably damaging	Het
Smg5	C	T	3: 88,258,838 (GRCm39)	A603V	probably benign	Het
Svs3b	T	A	2: 164,098,140 (GRCm39)	E60D	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Timm44	A	T	8: 4,316,844 (GRCm39)	M263K	probably benign	Het
Tmem150b	A	G	7: 4,723,691 (GRCm39)	L162P	probably damaging	Het
Tmprss11f	A	G	5: 86,687,566 (GRCm39)	V114A	probably damaging	Het
Trak1	C	T	9: 121,280,793 (GRCm39)	T394I	probably benign	Het
Tram2	A	C	1: 21,075,801 (GRCm39)	Y206D	probably damaging	Het
Trhde	C	T	10: 114,403,133 (GRCm39)	V497M	probably damaging	Het
Trpc2	A	G	7: 101,737,482 (GRCm39)	M425V	possibly damaging	Het
Tuba1b	C	T	15: 98,829,591 (GRCm39)	G410S	probably benign	Het
Vmn2r1	A	G	3: 63,997,199 (GRCm39)	D285G	possibly damaging	Het
Zfp536	A	T	7: 37,268,080 (GRCm39)	S445R	probably benign	Het
Zfp606	A	T	7: 12,227,234 (GRCm39)	T452S	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
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
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'- AGCCTCATGTCAGTTGAACTGG -3'
(R):5'- GTACTGGTTAGCTCACCTGG -3'

Sequencing Primer
(F):5'- GTCAGTTGAACTGGAATCTATAAACC -3'
(R):5'- GGTTAGCTCACCTGGTTCCTG -3'

Posted On

2020-07-13