Incidental Mutation 'R6960:Rnf25'
ID 541685
Institutional Source Beutler Lab
Gene Symbol Rnf25
Ensembl Gene ENSMUSG00000026171
Gene Name ring finger protein 25
Synonyms AO7, 0610009H16Rik
MMRRC Submission 045070-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6960 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 74632907-74640556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74634403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 207 (S207P)
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 possibly damaging
Transcript: ENSMUST00000027357
AA Change: S208P

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027357
Gene: ENSMUSG00000026171
AA Change: S208P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
BCS1_N 23 191 1.29e-86 SMART
AAA 222 357 3.23e-11 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113721
AA Change: S207P

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109350
Gene: ENSMUSG00000026171
AA Change: S207P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
BCS1_N 23 191 1.29e-86 SMART
AAA 222 357 3.23e-11 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000127938
AA Change: S97P

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116973
Gene: ENSMUSG00000026171
AA Change: S97P

DomainStartEndE-ValueType
RING 23 87 2.87e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132081
Predicted Effect probably benign
Transcript: ENSMUST00000135140
Predicted Effect probably benign
Transcript: ENSMUST00000136078
SMART Domains Protein: ENSMUSP00000117692
Gene: ENSMUSG00000026171

DomainStartEndE-ValueType
RWD 24 123 1.97e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154874
SMART Domains Protein: ENSMUSP00000120646
Gene: ENSMUSG00000026171

DomainStartEndE-ValueType
RWD 1 94 6.36e-15 SMART
Meta Mutation Damage Score 0.0838 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,072,924 (GRCm39) D1170G probably benign Het
Ak7 A T 12: 105,676,503 (GRCm39) T68S probably benign Het
Arhgap12 A T 18: 6,111,901 (GRCm39) N26K probably damaging Het
B3galt1 A T 2: 67,949,033 (GRCm39) E249D probably damaging Het
Catsper4 T A 4: 133,954,648 (GRCm39) M1L probably benign Het
Cc2d2b T C 19: 40,773,506 (GRCm39) V523A possibly damaging Het
Ccn4 C T 15: 66,791,047 (GRCm39) T283M probably benign Het
Cyp11a1 T C 9: 57,925,659 (GRCm39) F98S probably damaging Het
Cyp2d26 T C 15: 82,674,446 (GRCm39) S479G probably damaging Het
Dclre1a T G 19: 56,531,141 (GRCm39) Y735S probably damaging Het
Dio2 C T 12: 90,696,671 (GRCm39) G106R probably damaging Het
Efcab12 T C 6: 115,815,273 (GRCm39) probably benign Het
Ehhadh C A 16: 21,581,028 (GRCm39) V655L probably benign Het
Ercc2 G A 7: 19,127,615 (GRCm39) R379Q probably damaging Het
Fabp4 A G 3: 10,273,537 (GRCm39) V12A probably benign Het
Fbn1 T C 2: 125,223,980 (GRCm39) I590V probably benign Het
Grm8 C A 6: 27,981,281 (GRCm39) V210L probably damaging Het
Jakmip3 A G 7: 138,625,065 (GRCm39) D359G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Ly75 A T 2: 60,136,749 (GRCm39) Y1493N probably benign Het
Lyst A G 13: 13,808,663 (GRCm39) N111S probably benign Het
Lyz2 G C 10: 117,114,607 (GRCm39) I107M possibly damaging Het
Mgat5 A T 1: 127,248,371 (GRCm39) D91V possibly damaging Het
Mical3 T A 6: 120,935,504 (GRCm39) D1674V probably damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Naa16 A G 14: 79,596,911 (GRCm39) Y358H possibly damaging Het
Nktr T A 9: 121,571,758 (GRCm39) H226Q probably damaging Het
Ocln T G 13: 100,635,380 (GRCm39) K503T possibly damaging Het
Olfm4 T C 14: 80,258,754 (GRCm39) L301S probably damaging Het
Or4f4b G A 2: 111,314,071 (GRCm39) V127I possibly damaging Het
Or6c74 T C 10: 129,869,972 (GRCm39) L159P probably benign Het
Paqr4 G A 17: 23,956,697 (GRCm39) A222V probably benign Het
Pcdhb13 A G 18: 37,576,509 (GRCm39) T296A probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Pigg T C 5: 108,474,707 (GRCm39) V309A probably damaging Het
Ptger4 T C 15: 5,264,196 (GRCm39) R462G probably benign Het
Ptprc C T 1: 138,006,183 (GRCm39) probably null Het
Rabggta A C 14: 55,959,299 (GRCm39) probably null Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Rtf1 A G 2: 119,541,559 (GRCm39) Q264R probably damaging Het
Ryr2 A G 13: 11,816,129 (GRCm39) V619A probably benign Het
Serpinb6d A G 13: 33,855,181 (GRCm39) N285S probably benign Het
Slamf6 A G 1: 171,745,320 (GRCm39) M16V probably damaging Het
Slc22a23 A G 13: 34,528,140 (GRCm39) probably null Het
Slc23a2 T C 2: 131,933,173 (GRCm39) D95G probably damaging Het
Smc3 T C 19: 53,617,802 (GRCm39) Y600H probably damaging Het
Tarbp1 G A 8: 127,155,778 (GRCm39) T1320M possibly damaging Het
Tigd4 A T 3: 84,501,423 (GRCm39) K113N probably damaging Het
Tjp1 A T 7: 64,952,763 (GRCm39) F1444I possibly damaging Het
Tstd3 A T 4: 21,767,118 (GRCm39) M1K probably null Het
Zbtb46 T C 2: 181,065,217 (GRCm39) D311G probably damaging Het
Other mutations in Rnf25
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R8039:Rnf25 UTSW 1 74,633,123 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GTTGGACTTCTGAAGCCTTAGG -3'
(R):5'- GCTTTGCAGCATTTCCACG -3'

Sequencing Primer
(F):5'- GCCTTAGGCTCCTGGGG -3'
(R):5'- AGCATTTCCACGCCTCTCCTTAG -3'
Posted On 2018-11-28