Mutagenetix > Incidental Mutation

Incidental Mutation 'R7061:Rnf10'

548257

Institutional Source

Beutler Lab

Gene Symbol

Rnf10

Ensembl Gene

ENSMUSG00000041740

Gene Name

ring finger protein 10

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.681) question?

Stock #

R7061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115241412-115272898 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 115257090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 146 (F146L)

Ref Sequence

ENSEMBL: ENSMUSP00000107726 (fasta)

Gene Model

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

AlphaFold

Q3UIW5

Predicted Effect

probably benign
Transcript: ENSMUST00000040555
AA Change: F146L

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041778
Gene: ENSMUSG00000041740
AA Change: F146L

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
AA Change: F146L

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107725
Gene: ENSMUSG00000041740
AA Change: F146L

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: F146L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107726
Gene: ENSMUSG00000041740
AA Change: F146L

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

SMART Domains

Protein: ENSMUSP00000131696
Gene: ENSMUSG00000041740
AA Change: F108L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (68/69)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,545,065	M660T	probably benign	Het
Aard	G	A	15: 52,040,221	M13I	probably benign	Het
Abcb5	A	C	12: 118,877,774	Y979D	probably damaging	Het
Adgrb1	G	C	15: 74,569,881	V4L	probably benign	Het
Ap3b2	C	T	7: 81,461,009	R1006Q	unknown	Het
Bpifa6	A	T	2: 153,992,316	T343S	probably benign	Het
Celsr3	T	A	9: 108,847,594	C2957*	probably null	Het
Chd6	G	A	2: 161,025,965	Q428*	probably null	Het
Col5a1	C	A	2: 28,025,678	C191*	probably null	Het
Cpox	A	G	16: 58,670,860	I145V	possibly damaging	Het
Csnk2a1	C	T	2: 152,274,171	R268C	probably benign	Het
Dclk2	A	G	3: 86,831,731		probably null	Het
Dennd5a	T	C	7: 109,905,179	E909G	probably benign	Het
Depdc1a	T	A	3: 159,522,852	S414T	possibly damaging	Het
Dock5	A	G	14: 67,770,254	F1502S	probably damaging	Het
Dopey2	G	T	16: 93,762,063	A448S	probably benign	Het
Dsg1c	C	A	18: 20,277,009	N511K	probably benign	Het
Epc2	G	T	2: 49,535,322	R108L	probably damaging	Het
Erp44	T	A	4: 48,219,375	I147F	probably benign	Het
Evc	T	C	5: 37,319,102	T368A	possibly damaging	Het
Fbxo41	G	T	6: 85,475,466	R738S	probably benign	Het
Fli1	T	C	9: 32,424,222	T305A	probably damaging	Het
Gm4969	A	T	7: 19,100,128		probably benign	Het
Gm8897	T	C	5: 11,419,104	V74A	possibly damaging	Het
Grk5	A	G	19: 61,046,092	T93A	probably benign	Het
Grm2	A	T	9: 106,651,225	N153K	probably damaging	Het
Helz	A	G	11: 107,649,177	T1007A	possibly damaging	Het
Helz2	A	G	2: 181,240,514	L162P	probably damaging	Het
Hmgcr	T	A	13: 96,666,148	Q81L	possibly damaging	Het
Hnrnpu	T	C	1: 178,336,126	K218E	unknown	Het
Hydin	A	T	8: 110,603,288	I4885F	possibly damaging	Het
Ibsp	A	G	5: 104,309,902		probably null	Het
Igfals	T	C	17: 24,880,307	L124P	probably damaging	Het
Il24	T	A	1: 130,883,371	H142L	possibly damaging	Het
Kcnh2	A	T	5: 24,331,922	H221Q	probably benign	Het
Man1a	A	G	10: 53,920,235	S454P	probably damaging	Het
Mfsd4b1	C	T	10: 40,003,386	V172M	possibly damaging	Het
Mical2	T	A	7: 112,346,801	I763K	probably benign	Het
Mybpc3	A	G	2: 91,125,404	I594M	possibly damaging	Het
Neo1	T	A	9: 58,990,441	R77S	possibly damaging	Het
Nlrp6	A	G	7: 140,922,867	I265M	probably benign	Het
Olfr1350	A	G	7: 6,570,783	Y264C	probably damaging	Het
Olfr669	T	C	7: 104,938,676	L50P	probably damaging	Het
Olfr877	T	A	9: 37,855,646	V276D	possibly damaging	Het
Pcdhgb5	C	A	18: 37,731,923	P257Q	probably benign	Het
Phactr1	A	G	13: 43,132,981	D586G	probably damaging	Het
Pkn3	T	A	2: 30,083,536		probably null	Het
Prob1	A	T	18: 35,654,500	S234T	probably benign	Het
Rab14	A	T	2: 35,183,417	L131*	probably null	Het
Rab5c	G	A	11: 100,719,963	R40C	probably damaging	Het
Rhebl1	A	G	15: 98,879,283	L103P	probably damaging	Het
Rrbp1	T	C	2: 143,989,167	K360R	possibly damaging	Het
Slc6a9	C	T	4: 117,868,064	T575I	probably benign	Het
Smo	A	G	6: 29,760,230	H776R	probably damaging	Het
Tns2	A	G	15: 102,104,479	M1V	probably null	Het
Ttn	C	A	2: 76,894,692		probably benign	Het
Ugt3a1	A	T	15: 9,306,154	M130L	probably benign	Het
Urb2	C	T	8: 124,028,297	H248Y	probably benign	Het
Vit	A	T	17: 78,625,156	N564I	probably damaging	Het
Vmn1r60	A	T	7: 5,544,311	Y263*	probably null	Het
Vmn2r16	A	T	5: 109,363,754	Y609F	probably damaging	Het
Xpo7	T	C	14: 70,671,072	I876V	probably benign	Het
Zfp442	A	G	2: 150,408,017	I655T	probably benign	Het
Zfp574	T	A	7: 25,080,197	C215S	possibly damaging	Het
Zfp608	T	C	18: 54,987,997	T173A	probably benign	Het
Zfp69	A	T	4: 120,931,401	V239D	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
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
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'- CTCCCTCAGAAAATGTGACAGG -3'
(R):5'- AGGTTCAGTTCTCAGCCATG -3'

Sequencing Primer
(F):5'- CCCCTGACTGGTTAGATGAGG -3'
(R):5'- TCAGCCATGAGGAAGGAAGC -3'

Posted On

2019-05-13