Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01014:Rnf10'

53574

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf10

Ensembl Gene

ENSMUSG00000041740

Gene Name

ring finger protein 10

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.706) question?

Stock #

IGL01014

Quality Score

Status

Chromosome

Chromosomal Location

115241412-115272898 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115256983 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 182 (L182Q)

Ref Sequence

ENSEMBL: ENSMUSP00000107725 (fasta)

Gene Model

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

AlphaFold

Q3UIW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000040555
AA Change: L182Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041778
Gene: ENSMUSG00000041740
AA Change: L182Q

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: L182Q

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

SMART Domains

Protein: ENSMUSP00000107725
Gene: ENSMUSG00000041740
AA Change: L182Q

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: L182Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107726
Gene: ENSMUSG00000041740
AA Change: L182Q

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

unknown
Transcript: ENSMUST00000139853
AA Change: L144Q

SMART Domains

Protein: ENSMUSP00000131696
Gene: ENSMUSG00000041740
AA Change: L144Q

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

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	G	A	7: 139,875,660	M401I	probably benign	Het
Adgra1	C	T	7: 139,875,661	H402Y	probably damaging	Het
Akap13	T	C	7: 75,750,633		probably benign	Het
Akap9	A	G	5: 3,968,683	E1088G	probably benign	Het
Aox2	T	C	1: 58,322,801	F722S	possibly damaging	Het
Arhgef39	G	A	4: 43,499,502	R36C	probably damaging	Het
Art2a-ps	C	A	7: 101,554,908	C141F	probably damaging	Het
Brwd1	A	G	16: 96,016,173	F1380L	probably benign	Het
Cadps2	A	T	6: 23,496,874	N102K	possibly damaging	Het
Ccdc30	C	A	4: 119,393,579	R22L	possibly damaging	Het
Ccdc74a	A	T	16: 17,649,797	T200S	possibly damaging	Het
Cd200	G	A	16: 45,394,700	T196I	probably benign	Het
Cd244	A	G	1: 171,574,288	Y194C	probably damaging	Het
Cdh23	T	C	10: 60,307,522	T3009A	probably damaging	Het
Clec12b	T	A	6: 129,385,430	N21Y	probably damaging	Het
Cntln	A	G	4: 85,049,908	E788G	probably benign	Het
Col11a1	C	T	3: 114,123,809		probably benign	Het
Cttnbp2	T	A	6: 18,423,895	N810I	probably damaging	Het
Dhx15	A	T	5: 52,151,924	V719D	probably damaging	Het
Dnah6	A	G	6: 73,074,781		probably benign	Het
Dnajc13	A	G	9: 104,203,218	I888T	probably damaging	Het
Fasn	T	C	11: 120,817,229	K666E	probably damaging	Het
Gnas	C	T	2: 174,297,974		probably benign	Het
Lmntd2	T	C	7: 141,214,039	Q7R	probably damaging	Het
Lmo7	G	A	14: 101,920,557		probably benign	Het
Lrrc55	A	G	2: 85,196,215	I155T	possibly damaging	Het
Meis3	C	T	7: 16,178,947		probably benign	Het
Mib2	C	T	4: 155,657,730	V334M	probably damaging	Het
Myo3a	A	G	2: 22,332,473	I386V	probably benign	Het
Neb	C	A	2: 52,287,158	M1390I	probably benign	Het
Nmd3	G	A	3: 69,726,386	V69I	probably benign	Het
Nsmce3	G	T	7: 64,872,634	D95E	possibly damaging	Het
Olfr1140	T	C	2: 87,747,125	F310L	probably benign	Het
Olfr1259	T	C	2: 89,943,260	Y285C	probably damaging	Het
Olfr1311	A	G	2: 112,021,132	S241P	probably damaging	Het
Pde4d	T	C	13: 109,949,502	V538A	probably damaging	Het
Plxnb1	A	T	9: 109,106,034	H982L	probably benign	Het
Pold2	G	T	11: 5,872,293	Q459K	probably benign	Het
Ptpn14	G	A	1: 189,822,633	R130Q	probably damaging	Het
Syne2	G	A	12: 75,905,277	D440N	probably damaging	Het
Tlcd1	G	A	11: 78,179,457		probably null	Het
Tmem8	T	A	17: 26,117,009		probably benign	Het
Tpte	A	T	8: 22,320,882	Y185F	probably benign	Het

Other mutations in Rnf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9160:Rnf10	UTSW	5	115260190	missense	probably benign	0.06
R9274:Rnf10	UTSW	5	115247263	nonsense	probably null

Posted On

2013-06-28