Mutagenetix > Incidental Mutation

Incidental Mutation 'R6192:Rnf10'

502639

Institutional Source

Beutler Lab

Gene Symbol

Rnf10

Ensembl Gene

ENSMUSG00000041740

Gene Name

ring finger protein 10

Synonyms

MMRRC Submission

044332-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.628) question?

Stock #

R6192 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115379829-115410980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115395136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 151 (R151C)

Ref Sequence

ENSEMBL: ENSMUSP00000107726 (fasta)

Gene Model

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

AlphaFold

Q3UIW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000040555
AA Change: R151C

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

SMART Domains

Protein: ENSMUSP00000041778
Gene: ENSMUSG00000041740
AA Change: R151C

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: R151C

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

SMART Domains

Protein: ENSMUSP00000107725
Gene: ENSMUSG00000041740
AA Change: R151C

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: R151C

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

SMART Domains

Protein: ENSMUSP00000107726
Gene: ENSMUSG00000041740
AA Change: R151C

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: R113C

SMART Domains

Protein: ENSMUSP00000131696
Gene: ENSMUSG00000041740
AA Change: R113C

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

Meta Mutation Damage Score

0.6544

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,774,002 (GRCm39)	E1137G	probably damaging	Het
Adcy9	T	C	16: 4,105,818 (GRCm39)	I1099V	probably benign	Het
Angptl4	A	T	17: 33,996,015 (GRCm39)	N320K	probably benign	Het
Atp6v0a2	G	A	5: 124,767,268 (GRCm39)	M10I	probably benign	Het
Bltp1	C	T	3: 37,042,318 (GRCm39)	T2768I	probably benign	Het
Cbfa2t3	A	G	8: 123,361,135 (GRCm39)	S395P	probably benign	Het
Cenpe	C	T	3: 134,954,291 (GRCm39)	T1716I	possibly damaging	Het
Chsy1	T	C	7: 65,820,625 (GRCm39)	Y287H	probably benign	Het
Col4a4	G	T	1: 82,462,151 (GRCm39)	P1075T	probably damaging	Het
Cryab	T	A	9: 50,665,813 (GRCm39)	M68K	probably damaging	Het
Cybrd1	T	A	2: 70,967,858 (GRCm39)	L143Q	probably null	Het
Dcaf7	T	C	11: 105,942,584 (GRCm39)	V177A	probably damaging	Het
Dclk2	T	C	3: 86,722,457 (GRCm39)	Y392C	probably damaging	Het
Ddx20	T	C	3: 105,586,036 (GRCm39)	T770A	probably benign	Het
Dennd1b	T	A	1: 139,095,456 (GRCm39)	D501E	probably benign	Het
Dgkh	A	T	14: 78,865,504 (GRCm39)	Y26*	probably null	Het
Dnajc2	A	G	5: 21,973,646 (GRCm39)	V196A	probably damaging	Het
Etl4	A	G	2: 20,806,362 (GRCm39)	K827E	probably damaging	Het
Fam8a1	C	T	13: 46,823,099 (GRCm39)	P13L	probably damaging	Het
Gfra3	T	C	18: 34,837,582 (GRCm39)	S139G	possibly damaging	Het
Ggnbp1	G	A	17: 27,248,847 (GRCm39)	V139I	possibly damaging	Het
Gja1	T	A	10: 56,264,330 (GRCm39)	Y230N	probably damaging	Het
Gldc	A	G	19: 30,111,172 (GRCm39)	S535P	probably damaging	Het
Gm45871	A	G	18: 90,610,357 (GRCm39)	T532A	probably benign	Het
Gm5431	T	A	11: 48,785,220 (GRCm39)	D107V	probably benign	Het
Herc2	C	T	7: 55,857,510 (GRCm39)	T4031M	probably damaging	Het
Iffo2	G	A	4: 139,333,769 (GRCm39)	A282T	probably damaging	Het
Ifi44	T	G	3: 151,451,276 (GRCm39)		probably null	Het
Igkv4-53	C	T	6: 69,625,915 (GRCm39)	R62H	possibly damaging	Het
Lrp11	A	C	10: 7,474,454 (GRCm39)		probably null	Het
Lrp4	A	G	2: 91,338,833 (GRCm39)	T1755A	probably benign	Het
Mcm3ap	A	T	10: 76,336,934 (GRCm39)	K1316M	probably damaging	Het
Mctp1	T	G	13: 76,971,082 (GRCm39)		probably null	Het
Mroh5	A	T	15: 73,662,630 (GRCm39)	I396N	probably damaging	Het
Mrps5	T	A	2: 127,443,305 (GRCm39)	H294Q	probably damaging	Het
Muc16	A	T	9: 18,569,985 (GRCm39)	S845T	unknown	Het
Mycbpap	A	T	11: 94,398,557 (GRCm39)	V474E	probably damaging	Het
Mzt2	G	C	16: 15,666,551 (GRCm39)	S122W	probably benign	Het
Neb	T	C	2: 52,146,802 (GRCm39)	I2821V	probably benign	Het
Ngef	A	T	1: 87,415,622 (GRCm39)	D347E	probably damaging	Het
Nlrp14	T	C	7: 106,781,646 (GRCm39)	V281A	probably benign	Het
Obscn	A	T	11: 58,888,864 (GRCm39)	Y7597N	unknown	Het
Or4k47	T	C	2: 111,451,520 (GRCm39)	R300G	possibly damaging	Het
Patj	G	T	4: 98,344,394 (GRCm39)	G569W	probably damaging	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Phf2	T	A	13: 48,973,583 (GRCm39)	T361S	unknown	Het
Pik3r6	A	G	11: 68,434,455 (GRCm39)	E552G	probably damaging	Het
Pitx2	A	G	3: 129,009,521 (GRCm39)	T147A	probably benign	Het
Pkmyt1	G	A	17: 23,953,167 (GRCm39)	G241D	probably damaging	Het
Pola2	A	T	19: 6,003,802 (GRCm39)	V191D	possibly damaging	Het
Ralgapb	T	A	2: 158,291,367 (GRCm39)		probably null	Het
Rapgef4	T	C	2: 71,811,661 (GRCm39)	S11P	probably benign	Het
Rpl34	G	A	3: 130,522,716 (GRCm39)	P50L	probably benign	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sbno2	A	T	10: 79,895,850 (GRCm39)	L977Q	probably damaging	Het
Sec14l3	G	A	11: 4,025,566 (GRCm39)		probably null	Het
Serping1	A	T	2: 84,600,612 (GRCm39)	N243K	possibly damaging	Het
Slco2b1	T	A	7: 99,334,779 (GRCm39)	I231F	probably damaging	Het
Spag8	A	G	4: 43,652,458 (GRCm39)	F294S	probably damaging	Het
Speer4f1	G	A	5: 17,684,493 (GRCm39)	A174T	probably damaging	Het
Spred3	T	C	7: 28,862,402 (GRCm39)	D147G	probably benign	Het
Stard9	A	G	2: 120,527,241 (GRCm39)	D1166G	probably damaging	Het
Svep1	G	T	4: 58,104,536 (GRCm39)	T1229K	possibly damaging	Het
Tanc1	T	A	2: 59,669,305 (GRCm39)		probably null	Het
Tmem232	T	C	17: 65,737,800 (GRCm39)	Y420C	probably damaging	Het
Tubd1	A	T	11: 86,448,619 (GRCm39)	M311L	probably benign	Het
Tulp3	G	A	6: 128,332,703 (GRCm39)		probably null	Het
Usp42	T	C	5: 143,702,942 (GRCm39)	T560A	possibly damaging	Het
Vmn1r170	A	T	7: 23,305,934 (GRCm39)	Y112F	probably damaging	Het
Vmn2r4	A	T	3: 64,322,699 (GRCm39)	C7S	probably benign	Het
Wrn	A	G	8: 33,774,682 (GRCm39)	M652T	probably benign	Het
Wsb1	G	A	11: 79,139,336 (GRCm39)	P120L	possibly damaging	Het
Zfp142	T	C	1: 74,609,667 (GRCm39)	E1376G	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het

Other mutations in Rnf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Rnf10	APN	5	115,395,042 (GRCm39)	missense	probably damaging	1.00
IGL01995:Rnf10	APN	5	115,389,161 (GRCm39)	nonsense	probably null
IGL02291:Rnf10	APN	5	115,398,255 (GRCm39)	missense	probably damaging	1.00
IGL02751:Rnf10	APN	5	115,380,725 (GRCm39)	missense	probably benign	0.20
IGL02897:Rnf10	APN	5	115,386,700 (GRCm39)	missense	probably benign
IGL02968:Rnf10	APN	5	115,383,947 (GRCm39)	missense	probably benign	0.05
IGL03008:Rnf10	APN	5	115,389,355 (GRCm39)	missense	possibly damaging	0.92
IGL03098:Rnf10	UTSW	5	115,410,426 (GRCm39)	missense	probably damaging	1.00
R0409:Rnf10	UTSW	5	115,393,506 (GRCm39)	splice site	probably benign
R1083:Rnf10	UTSW	5	115,398,163 (GRCm39)	splice site	probably benign
R1754:Rnf10	UTSW	5	115,383,924 (GRCm39)	missense	probably damaging	0.99
R1957:Rnf10	UTSW	5	115,398,381 (GRCm39)	splice site	probably benign
R2398:Rnf10	UTSW	5	115,385,332 (GRCm39)	missense	probably benign	0.33
R2848:Rnf10	UTSW	5	115,387,171 (GRCm39)	missense	probably benign
R2849:Rnf10	UTSW	5	115,387,171 (GRCm39)	missense	probably benign
R4527:Rnf10	UTSW	5	115,398,210 (GRCm39)	missense	probably damaging	0.96
R4617:Rnf10	UTSW	5	115,386,762 (GRCm39)	missense	probably damaging	1.00
R4673:Rnf10	UTSW	5	115,389,148 (GRCm39)	missense	probably damaging	0.99
R4823:Rnf10	UTSW	5	115,393,501 (GRCm39)	critical splice acceptor site	probably null
R5560:Rnf10	UTSW	5	115,388,057 (GRCm39)	missense	probably damaging	1.00
R5805:Rnf10	UTSW	5	115,382,127 (GRCm39)	missense	probably benign
R7061:Rnf10	UTSW	5	115,395,149 (GRCm39)	missense	probably damaging	0.98
R7206:Rnf10	UTSW	5	115,382,180 (GRCm39)	missense	probably benign	0.04
R7213:Rnf10	UTSW	5	115,380,533 (GRCm39)	missense	probably damaging	1.00
R7213:Rnf10	UTSW	5	115,380,532 (GRCm39)	missense	probably damaging	1.00
R7429:Rnf10	UTSW	5	115,386,739 (GRCm39)	missense	probably damaging	1.00
R8098:Rnf10	UTSW	5	115,389,438 (GRCm39)	missense	probably damaging	0.98
R8179:Rnf10	UTSW	5	115,398,176 (GRCm39)	frame shift	probably null
R8252:Rnf10	UTSW	5	115,398,373 (GRCm39)	missense	probably benign	0.03
R8357:Rnf10	UTSW	5	115,410,320 (GRCm39)	missense	possibly damaging	0.54
R8457:Rnf10	UTSW	5	115,410,320 (GRCm39)	missense	possibly damaging	0.54
R9160:Rnf10	UTSW	5	115,398,249 (GRCm39)	missense	probably benign	0.06
R9274:Rnf10	UTSW	5	115,385,322 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCCTCAGAAAATGTGACAGGGG -3'
(R):5'- TGAGGTTCAGTTCTCAGCCATG -3'

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

Posted On

2018-02-27