Mutagenetix > Incidental Mutation

Incidental Mutation 'R8252:Rnf10'

640177

Institutional Source

Beutler Lab

Gene Symbol

Rnf10

Ensembl Gene

ENSMUSG00000041740

Gene Name

ring finger protein 10

Synonyms

MMRRC Submission

067678-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.700) question?

Stock #

R8252 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115379829-115410980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115398373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 53 (D53E)

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: D53E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000041778
Gene: ENSMUSG00000041740
AA Change: D53E

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: D53E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000107725
Gene: ENSMUSG00000041740
AA Change: D53E

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: D53E

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000107726
Gene: ENSMUSG00000041740
AA Change: D53E

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: D15E

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: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,861,284 (GRCm39)		probably benign	Het
Ano4	A	G	10: 88,816,881 (GRCm39)	I644T	probably damaging	Het
Arhgap18	T	A	10: 26,730,932 (GRCm39)	D203E	probably benign	Het
Ascc3	T	A	10: 50,518,706 (GRCm39)	M337K	probably benign	Het
Atg13	G	C	2: 91,510,699 (GRCm39)	P343A	probably benign	Het
Cacna1c	C	T	6: 118,634,335 (GRCm39)	V1058I		Het
Cd180	A	G	13: 102,842,504 (GRCm39)	T517A	probably benign	Het
Cd1d2	A	C	3: 86,894,375 (GRCm39)	I48L	probably benign	Het
Cdh19	C	T	1: 110,817,615 (GRCm39)	C709Y	probably benign	Het
Chst10	T	C	1: 38,923,433 (GRCm39)	D51G	probably benign	Het
Clec2g	G	A	6: 128,958,335 (GRCm39)	E184K	probably benign	Het
Col19a1	T	A	1: 24,319,048 (GRCm39)	H1014L	probably benign	Het
Fam135b	T	A	15: 71,404,872 (GRCm39)	H58L	probably benign	Het
Fam171b	A	G	2: 83,708,586 (GRCm39)	I363V	probably benign	Het
Hecw1	C	A	13: 14,515,425 (GRCm39)	G236W	probably damaging	Het
Htra3	A	G	5: 35,810,305 (GRCm39)	M459T	probably benign	Het
Iglc2	A	T	16: 19,017,520 (GRCm39)	C27*	probably null	Het
Il36b	A	T	2: 24,048,825 (GRCm39)	T77S	possibly damaging	Het
Kif1b	A	T	4: 149,358,262 (GRCm39)	N135K	probably damaging	Het
Krt5	A	T	15: 101,620,794 (GRCm39)	I151N	probably damaging	Het
Lama4	A	T	10: 38,936,142 (GRCm39)	M606L	probably benign	Het
Lgr6	T	A	1: 134,931,215 (GRCm39)	S280C	probably null	Het
Msh3	T	A	13: 92,357,569 (GRCm39)	T967S	probably damaging	Het
Ndufb4	T	C	16: 37,474,637 (GRCm39)	T29A	probably benign	Het
Nfe2l1	T	C	11: 96,710,058 (GRCm39)	M724V	probably benign	Het
Nudt12	T	C	17: 59,318,089 (GRCm39)	Y52C	probably damaging	Het
Nutm1	G	T	2: 112,082,174 (GRCm39)	Q301K	probably damaging	Het
Or2t46	T	A	11: 58,471,958 (GRCm39)	I96N	probably damaging	Het
Or4c102	A	G	2: 88,423,011 (GRCm39)	R288G	probably damaging	Het
Or5p50	A	G	7: 107,421,776 (GRCm39)	I300T	probably damaging	Het
Or6e1	T	A	14: 54,519,704 (GRCm39)	Y216F	possibly damaging	Het
Pcdh9	T	C	14: 94,126,086 (GRCm39)	Y28C	probably damaging	Het
Pcdha11	G	C	18: 37,140,590 (GRCm39)	V740L	possibly damaging	Het
Pkd1l2	T	C	8: 117,767,472 (GRCm39)	T1273A	probably benign	Het
Pla2g4a	T	C	1: 149,727,058 (GRCm39)	D574G	probably damaging	Het
Prrc2b	A	T	2: 32,109,392 (GRCm39)	Q1719L	possibly damaging	Het
Psap	A	G	10: 60,113,511 (GRCm39)		probably benign	Het
Pwwp3a	A	G	10: 80,077,694 (GRCm39)	I656V	probably benign	Het
Rab11fip2	C	T	19: 59,925,422 (GRCm39)	S265N	probably benign	Het
Scgb2b11	T	C	7: 31,908,764 (GRCm39)	E112G	probably benign	Het
Scml4	T	C	10: 42,800,100 (GRCm39)	Y85H	noncoding transcript	Het
Setd5	T	A	6: 113,127,916 (GRCm39)	Y1290N	probably benign	Het
Sgk1	T	A	10: 21,873,298 (GRCm39)	C375S	probably damaging	Het
Sik2	A	G	9: 50,828,415 (GRCm39)	V209A	possibly damaging	Het
Sipa1l2	A	T	8: 126,195,410 (GRCm39)	V776D	probably damaging	Het
Slamf1	T	A	1: 171,594,796 (GRCm39)	M1K	probably null	Het
Slc26a7	T	C	4: 14,621,415 (GRCm39)		probably benign	Het
Spg11	G	T	2: 121,918,820 (GRCm39)		probably benign	Het
Sry	C	A	Y: 2,663,298 (GRCm39)	A121S	possibly damaging	Het
Sspo	C	T	6: 48,462,386 (GRCm39)	T3719I	probably damaging	Het
Tcap	T	C	11: 98,275,171 (GRCm39)	S102P	probably benign	Het
Thap7	T	C	16: 17,346,486 (GRCm39)	R166G	probably benign	Het
Tmem229a	T	C	6: 24,955,580 (GRCm39)	Y58C	probably damaging	Het
Trim8	A	G	19: 46,504,059 (GRCm39)	Y537C	probably damaging	Het
Ubr4	T	A	4: 139,200,528 (GRCm39)	M4692K	unknown	Het
Uvssa	A	G	5: 33,549,523 (GRCm39)	S395G	probably benign	Het
Vgll4	G	T	6: 114,867,695 (GRCm39)	T52K	probably damaging	Het
Vmn2r7	A	G	3: 64,600,527 (GRCm39)	L548P	probably benign	Het
Vmn2r92	T	A	17: 18,387,134 (GRCm39)	S158T	probably damaging	Het
Wdr70	A	T	15: 8,072,337 (GRCm39)		probably benign	Het
Zbtb48	A	T	4: 152,105,344 (GRCm39)	C463S	probably damaging	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
R6192:Rnf10	UTSW	5	115,395,136 (GRCm39)	missense	probably damaging	1.00
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
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'- AGCTAAAGGGTTTGCTGCTG -3'
(R):5'- TCTATTACACTAAGGGCGGTGC -3'

Sequencing Primer
(F):5'- GTTTGCTGCTGCCACCG -3'
(R):5'- TCCTGTCAGGCCTGCTGAC -3'

Posted On

2020-07-28