Mutagenetix > Incidental Mutation

Incidental Mutation 'R5236:Rnf130'

486781

Institutional Source

Beutler Lab

Gene Symbol

Rnf130

Ensembl Gene

ENSMUSG00000020376

Gene Name

ring finger protein 130

Synonyms

G1RP, 2510042A13Rik, G1RZFP

MMRRC Submission

044393-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R5236 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49916173-50016546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49986805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 383 (T383I)

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: T383I

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056345
Gene: ENSMUSG00000020376
AA Change: T383I

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 damaging
Transcript: ENSMUST00000102776
AA Change: T383I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099837
Gene: ENSMUSG00000020376
AA Change: T383I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143607

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	T	A	9: 101,820,120 (GRCm39)	I180N	possibly damaging	Het
Actl9	T	C	17: 33,653,073 (GRCm39)	S378P	probably damaging	Het
Agrn	A	T	4: 156,263,315 (GRCm39)	C263S	possibly damaging	Het
Ahnak	A	G	19: 8,978,048 (GRCm39)	I56V	possibly damaging	Het
Arid4b	A	G	13: 14,301,034 (GRCm39)		probably null	Het
Bin2	T	C	15: 100,560,415 (GRCm39)	N49D	probably damaging	Het
Ccdc39	T	C	3: 33,884,251 (GRCm39)	T364A	probably damaging	Het
Cdcp1	A	T	9: 123,014,258 (GRCm39)	V172D	probably damaging	Het
Cdh23	A	G	10: 60,148,351 (GRCm39)	L2670P	probably damaging	Het
Cmtm4	G	C	8: 105,084,378 (GRCm39)	F105L	probably damaging	Het
Cspg4b	A	G	13: 113,502,754 (GRCm39)	Y153C	probably benign	Het
Ctsa	G	A	2: 164,680,831 (GRCm39)	V453M	probably damaging	Het
Cyp3a59	A	G	5: 146,039,635 (GRCm39)	I303V	probably benign	Het
Cyp4f17	T	C	17: 32,739,606 (GRCm39)		probably null	Het
Dst	C	T	1: 34,203,498 (GRCm39)	R447C	probably damaging	Het
E2f7	C	T	10: 110,603,070 (GRCm39)	P362S	probably damaging	Het
Fbxw9	A	G	8: 85,792,974 (GRCm39)	T407A	probably damaging	Het
Fyb2	T	C	4: 104,805,957 (GRCm39)	S346P	probably benign	Het
Git2	T	A	5: 114,905,233 (GRCm39)	I75L	probably damaging	Het
H2-DMa	T	A	17: 34,356,913 (GRCm39)	L137Q	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hrg	T	C	16: 22,780,263 (GRCm39)		probably benign	Het
Htr7	A	T	19: 36,034,169 (GRCm39)	I162N	probably damaging	Het
Itpripl1	A	T	2: 126,983,770 (GRCm39)	F117L	probably damaging	Het
Kri1	T	C	9: 21,187,237 (GRCm39)	Y392C	probably damaging	Het
Krt27	A	C	11: 99,241,641 (GRCm39)	S87A	possibly damaging	Het
Lama1	T	C	17: 68,111,487 (GRCm39)	V2246A	probably benign	Het
Lcn2	A	T	2: 32,275,973 (GRCm39)	M119K	probably benign	Het
Lrp2	T	C	2: 69,287,163 (GRCm39)		probably null	Het
Lrp6	T	C	6: 134,488,227 (GRCm39)	N290D	probably damaging	Het
Macf1	T	C	4: 123,291,614 (GRCm39)	E2517G	probably damaging	Het
Melk	G	A	4: 44,344,959 (GRCm39)	C363Y	probably benign	Het
Mettl22	T	A	16: 8,306,597 (GRCm39)	L351*	probably null	Het
Mms22l	A	G	4: 24,588,347 (GRCm39)	Q953R	probably benign	Het
Ndufaf7	T	C	17: 79,247,060 (GRCm39)	S107P	probably benign	Het
Opa3	A	G	7: 18,978,682 (GRCm39)	Y49C	probably damaging	Het
Or2a12	A	C	6: 42,904,715 (GRCm39)	R183S	probably benign	Het
Or9a2	C	A	6: 41,749,045 (GRCm39)	G63C	probably benign	Het
Pabpn1	T	A	14: 55,132,399 (GRCm39)	M145K	possibly damaging	Het
Plce1	A	C	19: 38,758,791 (GRCm39)	M1982L	probably benign	Het
Ppcdc	A	C	9: 57,321,937 (GRCm39)	I201S	probably benign	Het
Rag2	A	T	2: 101,460,005 (GRCm39)	D105V	probably damaging	Het
Sgip1	T	G	4: 102,784,784 (GRCm39)		probably null	Het
Slc23a2	T	A	2: 131,917,504 (GRCm39)	I245F	probably damaging	Het
Slc4a9	A	G	18: 36,663,900 (GRCm39)	Y308C	probably benign	Het
Slc7a15	C	T	12: 8,589,005 (GRCm39)	V181M	probably benign	Het
Sprr2b	G	A	3: 92,224,943 (GRCm39)	C63Y	unknown	Het
Stpg2	A	T	3: 138,937,984 (GRCm39)	Y181F	probably damaging	Het
Sult2a5	A	T	7: 13,398,974 (GRCm39)	T194S	probably benign	Het
Tbx15	A	T	3: 99,259,362 (GRCm39)	Q411L	possibly damaging	Het
Tln2	T	A	9: 67,273,205 (GRCm39)	E427V	probably damaging	Het
Trpv4	A	C	5: 114,760,856 (GRCm39)	V825G	possibly damaging	Het
Trrap	A	G	5: 144,754,596 (GRCm39)	I1968V	probably benign	Het
Ttn	G	A	2: 76,619,146 (GRCm39)	L16078F	probably damaging	Het
Unc45b	T	A	11: 82,805,888 (GRCm39)	F132I	possibly damaging	Het
Unc79	T	A	12: 103,060,654 (GRCm39)		probably null	Het
Vmn2r71	A	T	7: 85,272,877 (GRCm39)	N564Y	probably damaging	Het
Zfp638	G	T	6: 83,953,557 (GRCm39)	E1221*	probably null	Het
Zfp934	A	T	13: 62,665,527 (GRCm39)	H371Q	probably damaging	Het
Zranb3	A	G	1: 127,968,726 (GRCm39)	L63P	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
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'- CCTTTGATATGGAAAGGCTGACC -3'
(R):5'- CACACCAACATTGCTGCCTG -3'

Sequencing Primer
(F):5'- TATGGAAAGGCTGACCAGAACCC -3'
(R):5'- AGTGCCTCCCTTAACATGACTATATG -3'

Posted On

2017-08-17