Mutagenetix > Incidental Mutation

Incidental Mutation 'R1754:Rnf10'

193827

Institutional Source

Beutler Lab

Gene Symbol

Rnf10

Ensembl Gene

ENSMUSG00000041740

Gene Name

ring finger protein 10

Synonyms

MMRRC Submission

039786-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.732) question?

Stock #

R1754 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115241412-115272898 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 115245865 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 630 (S630R)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040555] [ENSMUST00000081497] [ENSMUST00000112096] [ENSMUST00000112097] [ENSMUST00000135455]

AlphaFold

Q3UIW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040555
AA Change: S668R

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000041778
Gene: ENSMUSG00000041740
AA Change: S668R

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: ENSMUST00000081497

SMART Domains

Protein: ENSMUSP00000080215
Gene: ENSMUSG00000060152

Domain	Start	End	E-Value	Type
Pfam:RNase_P_Rpp14	7	115	2.8e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112096
AA Change: S668R

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107725
Gene: ENSMUSG00000041740
AA Change: S668R

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

possibly damaging
Transcript: ENSMUST00000112097
AA Change: S669R

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107726
Gene: ENSMUSG00000041740
AA Change: S669R

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: ENSMUST00000128830

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128954

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

probably damaging
Transcript: ENSMUST00000139853
AA Change: S630R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131696
Gene: ENSMUSG00000041740
AA Change: S630R

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: ENSMUST00000140083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153553

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,321,031 (GRCm38)	V123A	probably damaging	Het
Abca2	T	A	2: 25,434,333 (GRCm38)	L234M	probably benign	Het
Abca3	G	A	17: 24,377,779 (GRCm38)	S402N	probably benign	Het
Acad12	A	T	5: 121,607,481 (GRCm38)	V249D	probably benign	Het
Acp4	T	C	7: 44,255,004 (GRCm38)	I212V	probably benign	Het
Actl6a	T	A	3: 32,718,574 (GRCm38)	V233D	probably damaging	Het
Aire	T	A	10: 78,030,290 (GRCm38)	Q533L	probably damaging	Het
Aldh3b3	T	C	19: 3,968,517 (GRCm38)	S411P	probably benign	Het
Amer2	A	G	14: 60,379,757 (GRCm38)	K467R	probably damaging	Het
Apol9b	A	T	15: 77,735,762 (GRCm38)	I253F	probably benign	Het
Arid1b	A	G	17: 5,279,201 (GRCm38)		probably null	Het
Atp6v0a4	T	C	6: 38,067,829 (GRCm38)	T494A	probably benign	Het
Atp6v1b2	A	G	8: 69,101,961 (GRCm38)	D106G	probably benign	Het
Avpr1b	T	C	1: 131,600,101 (GRCm38)	S121P	probably damaging	Het
Bcl11a	A	C	11: 24,164,724 (GRCm38)	E689A	probably damaging	Het
Brpf3	T	G	17: 28,821,323 (GRCm38)	L906R	probably benign	Het
Btn1a1	T	C	13: 23,460,468 (GRCm38)	K287E	probably benign	Het
Cacna1i	A	G	15: 80,371,529 (GRCm38)	H871R	probably damaging	Het
Cd14	A	T	18: 36,725,514 (GRCm38)	L296Q	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm38)		probably benign	Het
Colgalt1	G	T	8: 71,623,179 (GRCm38)	W490L	probably damaging	Het
Ctnna2	A	G	6: 77,636,749 (GRCm38)	I273T	possibly damaging	Het
Dnah7a	A	T	1: 53,504,185 (GRCm38)	D2275E	probably benign	Het
Dnah7a	A	C	1: 53,561,900 (GRCm38)		probably null	Het
Egfem1	T	C	3: 29,668,333 (GRCm38)	Y404H	possibly damaging	Het
Esm1	A	T	13: 113,216,696 (GRCm38)	N171Y	probably damaging	Het
Exoc1	T	G	5: 76,560,322 (GRCm38)		probably null	Het
Fcho1	A	G	8: 71,711,246 (GRCm38)	I580T	probably benign	Het
Fgfr1	A	G	8: 25,570,210 (GRCm38)	H552R	probably damaging	Het
Fsbp	A	G	4: 11,583,906 (GRCm38)	R202G	probably damaging	Het
Gabra6	A	G	11: 42,316,561 (GRCm38)	V231A	probably damaging	Het
Gm8765	A	T	13: 50,701,087 (GRCm38)	T254S	probably damaging	Het
Gmeb1	A	G	4: 132,232,027 (GRCm38)	S239P	probably benign	Het
Gnpat	T	A	8: 124,877,006 (GRCm38)	Y208N	probably damaging	Het
Il21	T	C	3: 37,225,525 (GRCm38)	K114R	possibly damaging	Het
Inhbc	T	C	10: 127,370,293 (GRCm38)	D35G	possibly damaging	Het
Inpp4b	A	T	8: 81,770,811 (GRCm38)	T87S	probably damaging	Het
Kcns2	T	C	15: 34,839,517 (GRCm38)	I342T	possibly damaging	Het
Ky	A	T	9: 102,541,927 (GRCm38)	T378S	possibly damaging	Het
Lcat	CAT	C	8: 105,941,814 (GRCm38)		probably null	Het
Lrrc8d	T	C	5: 105,812,657 (GRCm38)	V311A	probably benign	Het
Mief1	A	G	15: 80,249,602 (GRCm38)	I287V	probably damaging	Het
Mrpl47	A	G	3: 32,730,084 (GRCm38)	V179A	probably benign	Het
Mtcl1	T	C	17: 66,380,183 (GRCm38)	K576R	probably damaging	Het
Myh10	C	A	11: 68,813,058 (GRCm38)	A1902E	probably damaging	Het
Nlrp3	A	G	11: 59,558,402 (GRCm38)	T837A	possibly damaging	Het
Nr1i3	T	C	1: 171,217,394 (GRCm38)	Y132H	probably damaging	Het
Oit3	T	C	10: 59,427,940 (GRCm38)		probably null	Het
Olfr1186	A	T	2: 88,525,815 (GRCm38)	R77S	probably damaging	Het
Olfr1467	T	C	19: 13,365,353 (GRCm38)	S242P	probably damaging	Het
Olfr193	T	A	16: 59,110,581 (GRCm38)	I10F	probably benign	Het
Olfr30	A	T	11: 58,455,262 (GRCm38)	M229K	probably damaging	Het
Olfr427	A	G	1: 174,100,033 (GRCm38)	T192A	probably benign	Het
Olfr533	A	T	7: 140,466,860 (GRCm38)	I220F	probably damaging	Het
Olfr8	T	A	10: 78,955,697 (GRCm38)	V164E	probably damaging	Het
Olfr825	G	A	10: 130,163,164 (GRCm38)	T54I	probably benign	Het
Pdlim4	T	C	11: 54,055,873 (GRCm38)	E196G	possibly damaging	Het
Pigs	A	G	11: 78,337,847 (GRCm38)	Y293C	probably damaging	Het
Pkd1l2	A	T	8: 117,030,719 (GRCm38)	S1527T	possibly damaging	Het
Pkd2l1	A	T	19: 44,155,601 (GRCm38)	Y344*	probably null	Het
Pmp2	T	C	3: 10,182,224 (GRCm38)		probably null	Het
Polr3e	T	C	7: 120,939,298 (GRCm38)		probably null	Het
Ppp3ca	C	G	3: 136,881,448 (GRCm38)	I230M	probably benign	Het
Ppp5c	T	C	7: 17,005,310 (GRCm38)	H463R	probably benign	Het
Ptger1	A	G	8: 83,669,297 (GRCm38)	N328D	probably benign	Het
Rhno1	A	T	6: 128,357,859 (GRCm38)	I167N	probably benign	Het
Rictor	C	A	15: 6,735,368 (GRCm38)	P34H	probably damaging	Het
Rnf168	A	G	16: 32,299,124 (GRCm38)	Q501R	probably benign	Het
Rngtt	T	G	4: 33,329,634 (GRCm38)		probably null	Het
Samd9l	G	T	6: 3,373,126 (GRCm38)	F1378L	probably damaging	Het
Slc9c1	T	A	16: 45,589,509 (GRCm38)	M864K	probably benign	Het
Slitrk5	T	C	14: 111,680,519 (GRCm38)	F525S	probably damaging	Het
Sox6	T	C	7: 115,477,055 (GRCm38)	M784V	probably benign	Het
Spint2	C	T	7: 29,260,366 (GRCm38)		probably null	Het
Ssh1	A	T	5: 113,955,845 (GRCm38)	I276N	probably damaging	Het
Trank1	T	A	9: 111,392,871 (GRCm38)	V2892D	probably benign	Het
Ttn	C	A	2: 76,751,040 (GRCm38)	E21424*	probably null	Het
Usp17lc	T	C	7: 103,418,848 (GRCm38)	I450T	probably benign	Het
Vcan	A	G	13: 89,704,735 (GRCm38)	V702A	probably benign	Het
Vmn1r36	TA	TAA	6: 66,716,533 (GRCm38)		probably null	Het
Vmn2r51	G	T	7: 10,099,946 (GRCm38)	D388E	probably benign	Het
Zfp106	A	C	2: 120,533,764 (GRCm38)	S721A	probably damaging	Het
Zfp106	G	A	2: 120,533,763 (GRCm38)	S721L	probably damaging	Het
Zfp189	T	A	4: 49,529,342 (GRCm38)	H148Q	possibly damaging	Het
Zfp352	A	T	4: 90,223,809 (GRCm38)	Y62F	probably benign	Het
Zfp839	T	C	12: 110,855,457 (GRCm38)	V235A	probably damaging	Het
Zfp871	T	C	17: 32,775,334 (GRCm38)	Y289C	probably damaging	Het

Other mutations in Rnf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Rnf10	APN	5	115,256,983 (GRCm38)	missense	probably damaging	1.00
IGL01995:Rnf10	APN	5	115,251,102 (GRCm38)	nonsense	probably null
IGL02291:Rnf10	APN	5	115,260,196 (GRCm38)	missense	probably damaging	1.00
IGL02751:Rnf10	APN	5	115,242,666 (GRCm38)	missense	probably benign	0.20
IGL02897:Rnf10	APN	5	115,248,641 (GRCm38)	missense	probably benign
IGL02968:Rnf10	APN	5	115,245,888 (GRCm38)	missense	probably benign	0.05
IGL03008:Rnf10	APN	5	115,251,296 (GRCm38)	missense	possibly damaging	0.92
IGL03098:Rnf10	UTSW	5	115,272,367 (GRCm38)	missense	probably damaging	1.00
R0409:Rnf10	UTSW	5	115,255,447 (GRCm38)	splice site	probably benign
R1083:Rnf10	UTSW	5	115,260,104 (GRCm38)	splice site	probably benign
R1957:Rnf10	UTSW	5	115,260,322 (GRCm38)	splice site	probably benign
R2398:Rnf10	UTSW	5	115,247,273 (GRCm38)	missense	probably benign	0.33
R2848:Rnf10	UTSW	5	115,249,112 (GRCm38)	missense	probably benign
R2849:Rnf10	UTSW	5	115,249,112 (GRCm38)	missense	probably benign
R4527:Rnf10	UTSW	5	115,260,151 (GRCm38)	missense	probably damaging	0.96
R4617:Rnf10	UTSW	5	115,248,703 (GRCm38)	missense	probably damaging	1.00
R4673:Rnf10	UTSW	5	115,251,089 (GRCm38)	missense	probably damaging	0.99
R4823:Rnf10	UTSW	5	115,255,442 (GRCm38)	critical splice acceptor site	probably null
R5560:Rnf10	UTSW	5	115,249,998 (GRCm38)	missense	probably damaging	1.00
R5805:Rnf10	UTSW	5	115,244,068 (GRCm38)	missense	probably benign
R6192:Rnf10	UTSW	5	115,257,077 (GRCm38)	missense	probably damaging	1.00
R7061:Rnf10	UTSW	5	115,257,090 (GRCm38)	missense	probably damaging	0.98
R7206:Rnf10	UTSW	5	115,244,121 (GRCm38)	missense	probably benign	0.04
R7213:Rnf10	UTSW	5	115,242,474 (GRCm38)	missense	probably damaging	1.00
R7213:Rnf10	UTSW	5	115,242,473 (GRCm38)	missense	probably damaging	1.00
R7429:Rnf10	UTSW	5	115,248,680 (GRCm38)	missense	probably damaging	1.00
R8098:Rnf10	UTSW	5	115,251,379 (GRCm38)	missense	probably damaging	0.98
R8179:Rnf10	UTSW	5	115,260,117 (GRCm38)	frame shift	probably null
R8252:Rnf10	UTSW	5	115,260,314 (GRCm38)	missense	probably benign	0.03
R8357:Rnf10	UTSW	5	115,272,261 (GRCm38)	missense	possibly damaging	0.54
R8457:Rnf10	UTSW	5	115,272,261 (GRCm38)	missense	possibly damaging	0.54
R9160:Rnf10	UTSW	5	115,260,190 (GRCm38)	missense	probably benign	0.06
R9274:Rnf10	UTSW	5	115,247,263 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAATGTGCCAGGTTGGTTAGAGC -3'
(R):5'- ATTTGTCTCCCAGGCCCTTAGAGC -3'

Sequencing Primer
(F):5'- tcccagcatccattaactcc -3'
(R):5'- TAGAGCAGCTCTGACCAGC -3'

Posted On

2014-05-23