Mutagenetix > Incidental Mutation

Incidental Mutation 'R1570:Rnf25'

177157

Institutional Source

Beutler Lab

Gene Symbol

Rnf25

Ensembl Gene

ENSMUSG00000026171

Gene Name

ring finger protein 25

Synonyms

AO7, 0610009H16Rik

MMRRC Submission

039609-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74632907-74640556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74634426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 199 (E199G)

Ref Sequence

ENSEMBL: ENSMUSP00000109350 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027357] [ENSMUST00000027358] [ENSMUST00000113721] [ENSMUST00000113732] [ENSMUST00000113733] [ENSMUST00000127938] [ENSMUST00000132081] [ENSMUST00000135140] [ENSMUST00000154874]

AlphaFold

Q9QZR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000027357
AA Change: E200G

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

SMART Domains

Protein: ENSMUSP00000027357
Gene: ENSMUSG00000026171
AA Change: E200G

Domain	Start	End	E-Value	Type
RWD	18	127	4.66e-31	SMART
RING	134	198	2.87e-5	SMART
low complexity region	368	378	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000027358

SMART Domains

Protein: ENSMUSP00000027358
Gene: ENSMUSG00000026172

Domain	Start	End	E-Value	Type
BCS1_N	23	191	1.29e-86	SMART
AAA	222	357	3.23e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113721
AA Change: E199G

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

SMART Domains

Protein: ENSMUSP00000109350
Gene: ENSMUSG00000026171
AA Change: E199G

Domain	Start	End	E-Value	Type
RWD	18	127	4.66e-31	SMART
RING	134	197	3.53e-5	SMART
low complexity region	367	377	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113732

SMART Domains

Protein: ENSMUSP00000109361
Gene: ENSMUSG00000026172

Domain	Start	End	E-Value	Type
BCS1_N	23	191	1.29e-86	SMART
AAA	222	357	3.23e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113733

SMART Domains

Protein: ENSMUSP00000109362
Gene: ENSMUSG00000026172

Domain	Start	End	E-Value	Type
BCS1_N	23	191	1.29e-86	SMART
AAA	222	357	3.23e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000127938
AA Change: E89G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116973
Gene: ENSMUSG00000026171
AA Change: E89G

Domain	Start	End	E-Value	Type
RING	23	87	2.87e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151003

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149649

Predicted Effect

probably benign
Transcript: ENSMUST00000132081

Predicted Effect

probably benign
Transcript: ENSMUST00000136078

SMART Domains

Protein: ENSMUSP00000117692
Gene: ENSMUSG00000026171

Domain	Start	End	E-Value	Type
RWD	24	123	1.97e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135140

Predicted Effect

probably benign
Transcript: ENSMUST00000154874

SMART Domains

Protein: ENSMUSP00000120646
Gene: ENSMUSG00000026171

Domain	Start	End	E-Value	Type
RWD	1	94	6.36e-15	SMART

Meta Mutation Damage Score

0.5517

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.0%

Validation Efficiency

93% (77/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger motif. The mouse counterpart of this protein has been shown to interact with Rela, the p65 subunit of NF-kappaB (NFKB), and modulate NFKB-mediated transcription activity. The mouse protein also binds ubiquitin-conjugating enzymes (E2s) and is a substrate for E2-dependent ubiquitination. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobec1	A	G	6: 122,568,044 (GRCm39)		probably null	Het
Arhgap21	G	T	2: 20,885,651 (GRCm39)	Q348K	probably benign	Het
Arl5c	A	G	11: 97,883,213 (GRCm39)	V129A	probably benign	Het
Armh1	A	G	4: 117,087,189 (GRCm39)	S159P	probably damaging	Het
Asb8	A	G	15: 98,034,309 (GRCm39)	L82P	probably damaging	Het
Bahcc1	G	A	11: 120,163,009 (GRCm39)	A436T	possibly damaging	Het
Btc	T	C	5: 91,550,576 (GRCm39)	D2G	unknown	Het
C1s2	G	A	6: 124,602,723 (GRCm39)	T490M	probably benign	Het
Caap1	C	T	4: 94,444,814 (GRCm39)	G43D	probably benign	Het
Ccr5	T	C	9: 123,925,000 (GRCm39)	V201A	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdhr5	C	A	7: 140,851,682 (GRCm39)	G541C	probably damaging	Het
Cep170	A	G	1: 176,583,367 (GRCm39)	I1004T	possibly damaging	Het
Chd9	A	T	8: 91,763,170 (GRCm39)	M2332L	probably benign	Het
Clk1	T	A	1: 58,453,584 (GRCm39)	H334L	probably benign	Het
Cyp4b1	G	A	4: 115,493,160 (GRCm39)	S228F	probably benign	Het
Dnah9	T	C	11: 66,003,156 (GRCm39)	N883D	probably benign	Het
Dync2h1	A	G	9: 7,176,926 (GRCm39)	L11P	probably benign	Het
Ephx4	A	G	5: 107,567,717 (GRCm39)	E225G	probably damaging	Het
Erich6	C	T	3: 58,538,080 (GRCm39)		probably null	Het
Espl1	A	G	15: 102,206,802 (GRCm39)	T89A	probably damaging	Het
Evi2	T	A	11: 79,407,076 (GRCm39)	K166N	possibly damaging	Het
Glrx5	A	G	12: 104,999,127 (GRCm39)	T57A	possibly damaging	Het
Gnptab	T	A	10: 88,255,316 (GRCm39)	V222E	probably damaging	Het
Gpr155	T	C	2: 73,200,382 (GRCm39)	Y375C	possibly damaging	Het
Hsd11b1	C	G	1: 192,922,635 (GRCm39)	E141Q	probably damaging	Het
Ildr2	T	C	1: 166,131,154 (GRCm39)	F337L	probably damaging	Het
Ino80	C	T	2: 119,277,509 (GRCm39)	R322Q	possibly damaging	Het
Lcp2	A	G	11: 34,039,601 (GRCm39)	D467G	probably benign	Het
Lmbr1	A	G	5: 29,459,556 (GRCm39)	I229T	probably damaging	Het
Lnpep	A	T	17: 17,799,418 (GRCm39)	M79K	probably damaging	Het
Lpin1	T	C	12: 16,610,999 (GRCm39)	Q564R	possibly damaging	Het
Lpin2	T	A	17: 71,552,176 (GRCm39)	L794*	probably null	Het
Lrrc37	A	G	11: 103,500,764 (GRCm39)	Y597H	possibly damaging	Het
Lrrc45	T	C	11: 120,610,935 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,529,278 (GRCm39)	S751P	probably damaging	Het
Nbr1	T	C	11: 101,455,656 (GRCm39)		probably benign	Het
Nup107	A	G	10: 117,599,749 (GRCm39)	F592S	possibly damaging	Het
Nup133	T	A	8: 124,675,915 (GRCm39)	M1L	possibly damaging	Het
Or2a20	T	C	6: 43,194,285 (GRCm39)	V146A	probably benign	Het
Or3a10	A	C	11: 73,935,633 (GRCm39)	F156V	possibly damaging	Het
Or4n4	T	G	14: 50,518,981 (GRCm39)	H243P	probably damaging	Het
Or4p8	A	C	2: 88,727,290 (GRCm39)	I217S	probably damaging	Het
Or52b4i	C	A	7: 102,191,177 (GRCm39)	H11Q	probably damaging	Het
Or8i2	A	T	2: 86,852,616 (GRCm39)	S91T	probably benign	Het
Otud7b	T	C	3: 96,063,208 (GRCm39)	C816R	probably damaging	Het
Pi4k2a	T	C	19: 42,089,083 (GRCm39)	V148A	probably benign	Het
Pih1d2	T	C	9: 50,532,479 (GRCm39)	M195T	probably benign	Het
Pira13	T	C	7: 3,826,060 (GRCm39)	E311G	probably benign	Het
Plpp6	T	C	19: 28,942,178 (GRCm39)	F260L	probably damaging	Het
R3hcc1l	A	T	19: 42,570,393 (GRCm39)	T663S	probably damaging	Het
Scin	G	A	12: 40,134,380 (GRCm39)		probably benign	Het
Serpinb1c	A	T	13: 33,080,973 (GRCm39)	S37T	probably benign	Het
Snx19	A	G	9: 30,339,639 (GRCm39)	D259G	probably damaging	Het
Sorcs3	A	G	19: 48,752,620 (GRCm39)	K805R	probably damaging	Het
Sox6	C	A	7: 115,376,358 (GRCm39)	G125W	probably damaging	Het
Spink5	A	G	18: 44,100,174 (GRCm39)	I64V	probably benign	Het
Spmip10	T	A	18: 56,727,606 (GRCm39)	D101E	probably benign	Het
St6galnac1	A	G	11: 116,657,474 (GRCm39)		probably benign	Het
Sult1c2	T	C	17: 54,143,991 (GRCm39)	I105V	probably benign	Het
Tacr3	T	G	3: 134,535,517 (GRCm39)	S162A	probably damaging	Het
Ttc6	T	C	12: 57,721,549 (GRCm39)	S1013P	probably damaging	Het
Zbtb11	C	A	16: 55,811,178 (GRCm39)	N445K	probably benign	Het
Zfp423	A	C	8: 88,509,186 (GRCm39)	V261G	probably benign	Het
Zfp59	T	C	7: 27,553,016 (GRCm39)	V156A	probably benign	Het
Zscan2	C	A	7: 80,513,141 (GRCm39)	A42E	probably damaging	Het

Other mutations in Rnf25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02542:Rnf25	APN	1	74,633,260 (GRCm39)	missense	probably benign	0.02
IGL03268:Rnf25	APN	1	74,638,217 (GRCm39)	unclassified	probably benign
R1740:Rnf25	UTSW	1	74,637,886 (GRCm39)	missense	probably damaging	1.00
R2086:Rnf25	UTSW	1	74,633,126 (GRCm39)	missense	probably damaging	0.99
R2939:Rnf25	UTSW	1	74,635,047 (GRCm39)	missense	possibly damaging	0.50
R2940:Rnf25	UTSW	1	74,635,047 (GRCm39)	missense	possibly damaging	0.50
R4556:Rnf25	UTSW	1	74,638,264 (GRCm39)	missense	probably damaging	1.00
R4770:Rnf25	UTSW	1	74,633,099 (GRCm39)	missense	probably damaging	1.00
R5075:Rnf25	UTSW	1	74,634,803 (GRCm39)	missense	probably benign
R5394:Rnf25	UTSW	1	74,634,411 (GRCm39)	missense	probably damaging	1.00
R6319:Rnf25	UTSW	1	74,634,890 (GRCm39)	missense	probably damaging	1.00
R6960:Rnf25	UTSW	1	74,634,403 (GRCm39)	missense	possibly damaging	0.66
R8039:Rnf25	UTSW	1	74,633,123 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTTGGACTTCTGAAGCCTTAGGCTC -3'
(R):5'- TGCAGCTTTGCAGCATTTCCAC -3'

Sequencing Primer
(F):5'- GGGAGGGGGAAGCTGTG -3'
(R):5'- ACGCCTCTCCTTAGGCAG -3'

Posted On

2014-04-24