Mutagenetix > Incidental Mutation

Incidental Mutation 'R9160:Rnf10'

695636

Institutional Source

Beutler Lab

Gene Symbol

Rnf10

Ensembl Gene

ENSMUSG00000041740

Gene Name

ring finger protein 10

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.705) question?

Stock #

R9160 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115241412-115272898 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115260190 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 95 (M95L)

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: M95L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000041778
Gene: ENSMUSG00000041740
AA Change: M95L

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: M95L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000107725
Gene: ENSMUSG00000041740
AA Change: M95L

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
AA Change: M95L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107726
Gene: ENSMUSG00000041740
AA Change: M95L

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: M57L

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	G	A	16: 20,560,496	R704H	possibly damaging	Het
Akap13	T	C	7: 75,735,778	F533L	possibly damaging	Het
Ank3	G	A	10: 70,002,474	V1771I	unknown	Het
Aspm	T	C	1: 139,490,124	L2911S	probably damaging	Het
Atp2b4	T	C	1: 133,732,405	I380V	probably benign	Het
C2cd3	T	A	7: 100,426,029	L739I		Het
Cacng6	T	C	7: 3,434,890	S245P	probably benign	Het
Chd5	A	G	4: 152,385,459	S1830G	probably damaging	Het
Col20a1	T	C	2: 180,999,745	M660T	probably benign	Het
Dnajc6	G	A	4: 101,613,061		probably benign	Het
Dock7	A	G	4: 98,969,725	S1451P	unknown	Het
Ehd4	A	G	2: 120,136,959	V118A	probably damaging	Het
Espl1	A	G	15: 102,298,518	D139G	probably damaging	Het
Fer1l6	G	A	15: 58,643,866	E1601K	possibly damaging	Het
Fermt3	A	T	19: 7,014,417	L142Q	probably damaging	Het
Gfral	A	T	9: 76,197,090	N213K	possibly damaging	Het
Gria4	A	G	9: 4,424,412	F818L	probably damaging	Het
H2-Eb1	A	T	17: 34,309,857	R121*	probably null	Het
Hoxd9	A	G	2: 74,699,417	D339G	unknown	Het
Hpn	G	T	7: 31,108,977	P78T	probably benign	Het
Inpp4b	T	A	8: 81,884,153	V175E	possibly damaging	Het
Itpr2	A	G	6: 146,374,601	L736P	probably damaging	Het
Klhl6	G	T	16: 19,957,022	P262Q	probably damaging	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Mc5r	A	T	18: 68,339,134	Y188F	probably damaging	Het
Mob1b	T	C	5: 88,756,158	S218P	probably benign	Het
Mrgprb2	T	C	7: 48,552,234	I248V	possibly damaging	Het
Muc5ac	T	C	7: 141,809,792	I2280T	unknown	Het
Olfr1018	T	A	2: 85,822,974	M1K	probably null	Het
Olfr1052	A	T	2: 86,297,986	T57S	probably benign	Het
Olfr1394	G	T	11: 49,160,434	W140L	probably damaging	Het
Olfr389	A	T	11: 73,777,055	S91T	probably benign	Het
Pcdhga8	T	A	18: 37,727,412	I507N	probably damaging	Het
Pkd1l2	T	C	8: 117,040,669	D1294G	possibly damaging	Het
Psg28	A	G	7: 18,430,715	L24P	probably damaging	Het
Ptk2	A	T	15: 73,216,084	D868E	probably benign	Het
Ptpn6	G	C	6: 124,728,172	R264G	possibly damaging	Het
Rnf40	C	T	7: 127,591,821	T326I	probably damaging	Het
Rp1	G	T	1: 4,346,497	T1464K	probably benign	Het
Satb1	T	C	17: 51,740,025	E723G	probably benign	Het
Scgb3a2	T	A	18: 43,767,380		probably benign	Het
Sidt2	A	G	9: 45,946,982		probably null	Het
Sorcs1	A	T	19: 50,225,220	C690S	probably damaging	Het
Spag16	T	A	1: 69,923,714	M340K	probably benign	Het
Stk3	A	G	15: 35,099,465	V107A	probably damaging	Het
Tlr1	T	A	5: 64,926,310	H308L	probably benign	Het
Tmx2	A	G	2: 84,673,563	F162S	probably damaging	Het
Vmn2r57	C	T	7: 41,426,735	S451N	possibly damaging	Het
Zbtb49	T	A	5: 38,205,902	I446F	probably damaging	Het
Zdhhc17	A	T	10: 110,947,328	I493N	probably 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
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
R9274:Rnf10	UTSW	5	115247263	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACACACCTGCTGTCATGTC -3'
(R):5'- AGAAATTGGCCGTGTCTGG -3'

Sequencing Primer
(F):5'- TGTCACAGACCCCCAGG -3'
(R):5'- ATTGGCCGTGTCTGGGAAAAC -3'

Posted On

2022-01-20