Mutagenetix > Incidental Mutations

Incidental Mutation 'R0409:Rnf10'

36512

Institutional Source

Beutler Lab

Gene Symbol

Rnf10

Ensembl Gene

ENSMUSG00000041740

Gene Name

ring finger protein 10

Synonyms

MMRRC Submission

038611-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.595) question?

Stock #

R0409 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

115241412-115272898 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 115255447 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040555] [ENSMUST00000112096] [ENSMUST00000112097]

Predicted Effect

probably benign
Transcript: ENSMUST00000040555

SMART Domains

Protein: ENSMUSP00000041778
Gene: ENSMUSG00000041740

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	18	31	N/A	INTRINSIC
low complexity region	78	90	N/A	INTRINSIC
low complexity region	100	114	N/A	INTRINSIC
low complexity region	152	166	N/A	INTRINSIC
RING	225	266	1.98e-8	SMART
low complexity region	379	400	N/A	INTRINSIC
low complexity region	439	461	N/A	INTRINSIC
low complexity region	591	618	N/A	INTRINSIC
low complexity region	660	671	N/A	INTRINSIC
low complexity region	781	792	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112096

SMART Domains

Protein: ENSMUSP00000107725
Gene: ENSMUSG00000041740

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	18	31	N/A	INTRINSIC
low complexity region	78	90	N/A	INTRINSIC
low complexity region	100	114	N/A	INTRINSIC
low complexity region	152	166	N/A	INTRINSIC
RING	225	266	1.98e-8	SMART
low complexity region	379	400	N/A	INTRINSIC
low complexity region	439	461	N/A	INTRINSIC
low complexity region	591	618	N/A	INTRINSIC
low complexity region	660	671	N/A	INTRINSIC
low complexity region	782	793	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112097

SMART Domains

Protein: ENSMUSP00000107726
Gene: ENSMUSG00000041740

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	18	31	N/A	INTRINSIC
low complexity region	78	90	N/A	INTRINSIC
low complexity region	100	114	N/A	INTRINSIC
low complexity region	152	166	N/A	INTRINSIC
RING	225	266	1.98e-8	SMART
low complexity region	379	400	N/A	INTRINSIC
low complexity region	440	462	N/A	INTRINSIC
low complexity region	592	619	N/A	INTRINSIC
low complexity region	661	672	N/A	INTRINSIC
low complexity region	783	794	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133276

Predicted Effect

probably benign
Transcript: ENSMUST00000139853

SMART Domains

Protein: ENSMUSP00000131696
Gene: ENSMUSG00000041740

Domain	Start	End	E-Value	Type
low complexity region	41	53	N/A	INTRINSIC
low complexity region	63	77	N/A	INTRINSIC
low complexity region	115	129	N/A	INTRINSIC
RING	188	229	1.98e-8	SMART
low complexity region	342	363	N/A	INTRINSIC
low complexity region	402	424	N/A	INTRINSIC
low complexity region	554	581	N/A	INTRINSIC
low complexity region	623	634	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202855

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.8%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: The protein encoding this gene is a member of the really interesting new gene finger protein family. Members of this family contain protein motifs similar to zinc finger domains and are involved in many processes that include transcriptional regulation, DNA repair and signal transduction. Expression of this gene is upregulated during neuronal differentiation of cultured cells, and inhibition of its expression impairs differentiation and cell cycle exit, providing evidence for a function in neuronal differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	C	4: 42,972,203	K512T	probably damaging	Het
1700113H08Rik	G	T	10: 87,225,954	A89S	probably damaging	Het
4933417A18Rik	A	T	13: 34,924,549	I5L	probably benign	Het
Alkbh3	T	A	2: 94,001,448	I146F	possibly damaging	Het
Aox2	A	T	1: 58,336,624	I871F	possibly damaging	Het
Birc2	A	C	9: 7,819,384	V509G	possibly damaging	Het
Car7	G	A	8: 104,548,424	A165T	probably damaging	Het
Ccdc81	A	G	7: 89,886,215	V271A	probably benign	Het
Cdc40	G	T	10: 40,847,168	H302N	probably damaging	Het
Cep104	C	T	4: 153,983,053		probably benign	Het
Cfap54	C	A	10: 92,776,213	S3161I	probably benign	Het
Chil5	A	G	3: 106,034,966		probably benign	Het
Chil6	C	T	3: 106,404,176	G96D	probably benign	Het
Cnot1	T	C	8: 95,748,855	K531E	probably damaging	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Disp3	T	G	4: 148,271,959	E148A	probably damaging	Het
Eps8l2	A	G	7: 141,342,980	Y52C	probably damaging	Het
Exph5	C	A	9: 53,374,343	T908K	probably benign	Het
Fat4	C	T	3: 38,977,413	S2449F	probably damaging	Het
Faxc	T	A	4: 21,948,751	N154K	probably benign	Het
Fbxo43	C	T	15: 36,162,357	A235T	probably benign	Het
Fnip1	A	G	11: 54,480,354		probably null	Het
Fsd1l	T	C	4: 53,679,932	L210P	probably benign	Het
Gm6420	A	C	1: 23,256,038	S123R	unknown	Het
Gm8801	T	G	17: 35,947,376		noncoding transcript	Het
Gmfb	T	C	14: 46,816,222	I36V	probably benign	Het
Gsap	G	A	5: 21,222,445		probably benign	Het
Hectd1	T	A	12: 51,782,556	I969L	possibly damaging	Het
Il21r	G	T	7: 125,629,840		probably benign	Het
Lrrc7	A	G	3: 158,161,426	F893L	possibly damaging	Het
Map2	A	G	1: 66,433,580	I1715V	probably damaging	Het
Mlh3	A	G	12: 85,240,854	I1339T	possibly damaging	Het
Nacad	T	C	11: 6,599,810	D1127G	probably benign	Het
Noc3l	A	G	19: 38,817,927		probably benign	Het
Nup93	A	G	8: 94,303,665	D384G	probably damaging	Het
Olfr1036	T	A	2: 86,075,302	C187*	probably null	Het
Olfr474	T	C	7: 107,955,226	I195T	probably benign	Het
Olfr889	C	T	9: 38,116,251	L152F	probably benign	Het
Pls1	A	T	9: 95,786,919		probably benign	Het
Prkcb	A	T	7: 122,424,977	H75L	probably damaging	Het
Rev1	A	T	1: 38,074,368	Y539*	probably null	Het
Rnpepl1	A	G	1: 92,915,860	Y234C	probably damaging	Het
Sdk2	T	C	11: 113,850,891		probably benign	Het
Sec23b	T	A	2: 144,567,912	M240K	probably benign	Het
Sema5a	A	T	15: 32,681,609	N945Y	probably damaging	Het
Snapc4	C	A	2: 26,367,216	R799L	probably benign	Het
Tctn3	T	C	19: 40,611,416		probably benign	Het
Tfpt	G	A	7: 3,620,899	Q50*	probably null	Het
Trim80	T	C	11: 115,441,213	V77A	probably damaging	Het
Trp73	T	A	4: 154,064,384	D256V	possibly damaging	Het
Utrn	G	T	10: 12,643,601	N2202K	probably benign	Het
Vps13c	T	A	9: 67,951,644	F2792Y	probably benign	Het

Other mutations in Rnf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Rnf10	APN	5	115256983	missense	probably damaging	1.00
IGL01995:Rnf10	APN	5	115251102	nonsense	probably null
IGL02291:Rnf10	APN	5	115260196	missense	probably damaging	1.00
IGL02751:Rnf10	APN	5	115242666	missense	probably benign	0.20
IGL02897:Rnf10	APN	5	115248641	missense	probably benign
IGL02968:Rnf10	APN	5	115245888	missense	probably benign	0.05
IGL03008:Rnf10	APN	5	115251296	missense	possibly damaging	0.92
IGL03098:Rnf10	UTSW	5	115272367	missense	probably damaging	1.00
R1083:Rnf10	UTSW	5	115260104	splice site	probably benign
R1754:Rnf10	UTSW	5	115245865	missense	probably damaging	0.99
R1957:Rnf10	UTSW	5	115260322	splice site	probably benign
R2398:Rnf10	UTSW	5	115247273	missense	probably benign	0.33
R2848:Rnf10	UTSW	5	115249112	missense	probably benign
R2849:Rnf10	UTSW	5	115249112	missense	probably benign
R4527:Rnf10	UTSW	5	115260151	missense	probably damaging	0.96
R4617:Rnf10	UTSW	5	115248703	missense	probably damaging	1.00
R4673:Rnf10	UTSW	5	115251089	missense	probably damaging	0.99
R4823:Rnf10	UTSW	5	115255442	critical splice acceptor site	probably null
R5560:Rnf10	UTSW	5	115249998	missense	probably damaging	1.00
R5805:Rnf10	UTSW	5	115244068	missense	probably benign
R6192:Rnf10	UTSW	5	115257077	missense	probably damaging	1.00
R7061:Rnf10	UTSW	5	115257090	missense	probably damaging	0.98
R7206:Rnf10	UTSW	5	115244121	missense	probably benign	0.04
R7213:Rnf10	UTSW	5	115242473	missense	probably damaging	1.00
R7213:Rnf10	UTSW	5	115242474	missense	probably damaging	1.00
R7429:Rnf10	UTSW	5	115248680	missense	probably damaging	1.00
R8098:Rnf10	UTSW	5	115251379	missense	probably damaging	0.98
R8179:Rnf10	UTSW	5	115260117	frame shift	probably null
R8252:Rnf10	UTSW	5	115260314	missense	probably benign	0.03
R8357:Rnf10	UTSW	5	115272261	missense	possibly damaging	0.54
R8457:Rnf10	UTSW	5	115272261	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- GTCAGAAAACATAGCCCACGTTTAACAG -3'
(R):5'- ACAGCTTTCTCCTGCCTTAAAGATGATG -3'

Sequencing Primer
(F):5'- CACTCACCACTTGTTCCACA -3'
(R):5'- CCTGCCTTAAAGATGATGAGCTG -3'

Posted On

2013-05-09