Mutagenetix > Incidental Mutation

Incidental Mutation 'R4617:Rnf10'

351108

Institutional Source

Beutler Lab

Gene Symbol

Rnf10

Ensembl Gene

ENSMUSG00000041740

Gene Name

ring finger protein 10

Synonyms

MMRRC Submission

041828-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.682) question?

Stock #

R4617 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

115241412-115272898 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115248703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 508 (Q508L)

Ref Sequence

ENSEMBL: ENSMUSP00000107725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040555] [ENSMUST00000112096] [ENSMUST00000112097] [ENSMUST00000135455]

AlphaFold

Q3UIW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000040555
AA Change: Q508L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041778
Gene: ENSMUSG00000041740
AA Change: Q508L

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 damaging
Transcript: ENSMUST00000112096
AA Change: Q508L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107725
Gene: ENSMUSG00000041740
AA Change: Q508L

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 damaging
Transcript: ENSMUST00000112097
AA Change: Q509L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107726
Gene: ENSMUSG00000041740
AA Change: Q509L

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: ENSMUST00000128954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133276

Predicted Effect

probably benign
Transcript: ENSMUST00000135455

SMART Domains

Protein: ENSMUSP00000118408
Gene: ENSMUSG00000060152

Domain	Start	End	E-Value	Type
Pfam:RNase_P_Rpp14	7	117	3.7e-31	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000139853
AA Change: Q470L

SMART Domains

Protein: ENSMUSP00000131696
Gene: ENSMUSG00000041740
AA Change: Q470L

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: ENSMUST00000152613

Meta Mutation Damage Score

0.5809

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

96% (66/69)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,330,334	I363V	probably benign	Het
Acaa1a	T	A	9: 119,348,940	S279R	probably damaging	Het
Akr1cl	A	G	1: 65,021,391	C156R	probably damaging	Het
Als2cr12	A	T	1: 58,661,442	D301E	probably benign	Het
Arhgap11a	G	A	2: 113,834,078	T620M	probably benign	Het
Brinp1	A	G	4: 68,762,961	I444T	possibly damaging	Het
Ccdc150	A	G	1: 54,355,754	I760V	probably benign	Het
Cdh26	G	A	2: 178,460,642		probably benign	Het
Cpd	A	G	11: 76,840,615	L255P	probably damaging	Het
Cyfip2	A	G	11: 46,254,018	Y670H	probably damaging	Het
Disp2	G	A	2: 118,790,162	M458I	probably benign	Het
Dot1l	T	C	10: 80,785,084	I563T	probably damaging	Het
Egf	A	T	3: 129,690,793	S1001T	probably benign	Het
Elfn1	A	G	5: 139,972,009	Y256C	probably damaging	Het
Exoc4	C	T	6: 33,862,204	T725I	probably benign	Het
Fam168b	A	G	1: 34,819,982	V72A	possibly damaging	Het
Fbxw20	C	T	9: 109,217,563	S443N	probably damaging	Het
Flrt2	T	C	12: 95,780,229	V447A	possibly damaging	Het
Gm4846	A	G	1: 166,495,981	S58P	probably damaging	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gm8906	T	C	5: 11,503,831	S7P	probably benign	Het
Gpr20	T	C	15: 73,695,736	N268S	probably benign	Het
Kdelc1	A	C	1: 44,110,020	F453V	probably damaging	Het
Lpcat2b	T	C	5: 107,433,999	L398P	possibly damaging	Het
Mapk8ip3	G	A	17: 24,904,787	P587L	probably damaging	Het
Mfap4	C	A	11: 61,485,509		probably benign	Het
Mrpl38	T	C	11: 116,132,452	D325G	probably damaging	Het
Mtmr12	A	G	15: 12,270,046	E430G	probably damaging	Het
Mup18	T	A	4: 61,671,917	I125F	possibly damaging	Het
Ogdhl	A	G	14: 32,325,885	R31G	probably benign	Het
Olfr275	A	T	4: 52,825,399	M1L	probably benign	Het
Pcdh1	C	A	18: 38,197,860	V697L	probably benign	Het
Pcdhga9	T	C	18: 37,738,500	Y461H	probably damaging	Het
Pdzrn4	A	G	15: 92,769,842	Y625C	probably damaging	Het
Pkd2l1	C	A	19: 44,154,134	A490S	probably damaging	Het
Ptprn	T	A	1: 75,252,287	D828V	possibly damaging	Het
Rgs12	T	A	5: 35,020,356	W97R	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sec24b	A	T	3: 130,040,764	S126T	possibly damaging	Het
Slc6a5	A	G	7: 49,912,020	N100S	probably benign	Het
Stam2	A	T	2: 52,715,704	D167E	probably benign	Het
Stambp	G	A	6: 83,561,978	Q147*	probably null	Het
Tbc1d32	A	G	10: 56,170,904	V556A	possibly damaging	Het
Tll2	T	C	19: 41,098,636	D592G	probably benign	Het
Tmem199	A	T	11: 78,509,682		probably benign	Het
Traip	T	A	9: 107,970,019	N352K	probably benign	Het
Trmt1l	C	T	1: 151,454,048	Q581*	probably null	Het
Usp54	C	A	14: 20,550,338	A1444S	probably benign	Het
Vsig1	G	T	X: 140,926,386	A95S	probably benign	Het
Xdh	G	A	17: 73,918,394	T471I	probably damaging	Het
Zdhhc19	A	G	16: 32,497,676	D83G	probably damaging	Het
Zfp352	A	G	4: 90,225,081	K486R	probably benign	Het
Zfp451	A	G	1: 33,802,671		probably benign	Het
Zfp963	A	T	8: 69,743,294	S170T	probably benign	Het
Zfp970	A	G	2: 177,476,168	I512V	probably benign	Het
Zfp990	A	G	4: 145,537,046	I205V	possibly damaging	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
R0409:Rnf10	UTSW	5	115255447	splice site	probably benign
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
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
R9160:Rnf10	UTSW	5	115260190	missense	probably benign	0.06
R9274:Rnf10	UTSW	5	115247263	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AATGAGCACATTGAGGCCTC -3'
(R):5'- GCCTCAGGTATTTGAAGGAGAG -3'

Sequencing Primer
(F):5'- TTGAGGCCTCAACAGTTGCAG -3'
(R):5'- CCTCAGGTATTTGAAGGAGAGGGATG -3'

Posted On

2015-10-08