Mutagenetix > Incidental Mutation

Incidental Mutation 'R2940:Rnf25'

255111

Institutional Source

Beutler Lab

Gene Symbol

Rnf25

Ensembl Gene

ENSMUSG00000026171

Gene Name

ring finger protein 25

Synonyms

AO7, 0610009H16Rik

MMRRC Submission

040517-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2940 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74632907-74640556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74635047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 135 (V135A)

Ref Sequence

ENSEMBL: ENSMUSP00000109350 (fasta)

Gene Model

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

AlphaFold

Q9QZR0

Predicted Effect

probably benign
Transcript: ENSMUST00000027357
AA Change: V135A

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027357
Gene: ENSMUSG00000026171
AA Change: V135A

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

possibly damaging
Transcript: ENSMUST00000113721
AA Change: V135A

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109350
Gene: ENSMUSG00000026171
AA Change: V135A

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 benign
Transcript: ENSMUST00000127938
AA Change: V24A

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000116973
Gene: ENSMUSG00000026171
AA Change: V24A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128491

Predicted Effect

probably benign
Transcript: ENSMUST00000154874
AA Change: V102A

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120646
Gene: ENSMUSG00000026171
AA Change: V102A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151003

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149649

Predicted Effect

probably benign
Transcript: ENSMUST00000135140

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

Meta Mutation Damage Score

0.0618

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	G	13: 68,878,424 (GRCm39)	W405R	probably damaging	Het
Apc	G	A	18: 34,409,723 (GRCm39)	R221H	probably damaging	Het
Armcx6	A	T	X: 133,650,625 (GRCm39)	W69R	probably damaging	Het
Bltp1	A	G	3: 37,012,954 (GRCm39)	D1878G	probably damaging	Het
Carm1	C	A	9: 21,490,692 (GRCm39)		probably null	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Cngb1	T	C	8: 95,978,735 (GRCm39)	I573V	probably benign	Het
Crybg2	A	G	4: 133,809,745 (GRCm39)	H1517R	possibly damaging	Het
Dixdc1	G	A	9: 50,622,259 (GRCm39)	A25V	probably damaging	Het
Dmap1	G	A	4: 117,533,202 (GRCm39)	T284M	possibly damaging	Het
Dock6	A	G	9: 21,750,496 (GRCm39)	F473L	possibly damaging	Het
Eif3a	T	C	19: 60,762,115 (GRCm39)	T487A	probably benign	Het
Faiml	A	G	9: 99,114,527 (GRCm39)	C121R	probably damaging	Het
Fam180a	A	T	6: 35,290,564 (GRCm39)	S140T	possibly damaging	Het
Fibcd1	T	C	2: 31,707,276 (GRCm39)	Y327C	probably damaging	Het
Haghl	A	G	17: 26,004,060 (GRCm39)	V8A	possibly damaging	Het
Igfbp1	A	G	11: 7,151,970 (GRCm39)	T258A	probably benign	Het
Isl1	T	C	13: 116,444,835 (GRCm39)	T65A	possibly damaging	Het
Khdrbs3	T	A	15: 68,921,239 (GRCm39)	D185E	probably damaging	Het
Klc1	C	T	12: 111,772,451 (GRCm39)	R157C	possibly damaging	Het
Lamc3	A	G	2: 31,830,714 (GRCm39)	S1484G	probably benign	Het
Lman1	G	T	18: 66,117,344 (GRCm39)	P466Q	possibly damaging	Het
Map3k4	C	T	17: 12,480,157 (GRCm39)	E682K	probably damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nbea	C	G	3: 55,842,045 (GRCm39)	E1879Q	probably benign	Het
Or8b12i	C	A	9: 20,082,061 (GRCm39)	G269W	probably benign	Het
Or8g34	G	A	9: 39,373,226 (GRCm39)	M166I	probably benign	Het
Pigc	T	C	1: 161,798,239 (GRCm39)	Y74H	possibly damaging	Het
Plek	C	T	11: 16,942,887 (GRCm39)		probably null	Het
Pramel28	A	G	4: 143,693,247 (GRCm39)	V77A	probably benign	Het
Rasgrf1	C	T	9: 89,873,767 (GRCm39)	A692V	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Senp6	G	A	9: 80,051,124 (GRCm39)	A1134T	probably benign	Het
Sh3rf2	G	A	18: 42,244,505 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,122,757 (GRCm39)	D506G	probably damaging	Het
Slc13a1	T	A	6: 24,090,779 (GRCm39)	I547F	possibly damaging	Het
Slc26a6	G	A	9: 108,734,236 (GRCm39)	V206I	probably benign	Het
Smc1a	T	A	X: 150,816,695 (GRCm39)	Y516N	probably damaging	Het
Sorbs1	T	C	19: 40,362,015 (GRCm39)	D123G	probably damaging	Het
Tecta	A	T	9: 42,289,290 (GRCm39)	M425K	possibly damaging	Het
Trpv1	A	G	11: 73,145,675 (GRCm39)	K403R	probably damaging	Het
Ttc39d	A	G	17: 80,524,982 (GRCm39)	Y547C	probably damaging	Het
Tubb6	A	G	18: 67,534,994 (GRCm39)	N298D	probably damaging	Het
Xpo7	G	T	14: 70,904,577 (GRCm39)	L1020I	probably benign	Het
Xpo7	A	T	14: 70,904,576 (GRCm39)	L1020Q	probably damaging	Het
Zswim4	A	T	8: 84,950,377 (GRCm39)	L611Q	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
R1570:Rnf25	UTSW	1	74,634,426 (GRCm39)	missense	probably damaging	1.00
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
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'- TGCTGGATGTACCTGGCAAG -3'
(R):5'- CTTAGATATTGAAACCAGGAAGGCC -3'

Sequencing Primer
(F):5'- CCTGGCAAGGCAATGGC -3'
(R):5'- TATTGAAACCAGGAAGGCCAAATG -3'

Posted On

2014-12-29