Incidental Mutation 'R2178:Rnf183'
ID 236984
Institutional Source Beutler Lab
Gene Symbol Rnf183
Ensembl Gene ENSMUSG00000063851
Gene Name ring finger protein 183
Synonyms 5830442J12Rik
MMRRC Submission 040180-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2178 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 62345777-62353487 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62346333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 155 (N155S)
Ref Sequence ENSEMBL: ENSMUSP00000103079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079420] [ENSMUST00000084524] [ENSMUST00000107454] [ENSMUST00000107455]
AlphaFold Q8QZS5
Predicted Effect probably benign
Transcript: ENSMUST00000079420
AA Change: N155S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000078389
Gene: ENSMUSG00000063851
AA Change: N155S

DomainStartEndE-ValueType
RING 13 59 3.78e-5 SMART
transmembrane domain 160 182 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000084524
SMART Domains Protein: ENSMUSP00000081572
Gene: ENSMUSG00000066148

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
SFM 102 154 8.92e-25 SMART
WD40 219 258 1.14e-3 SMART
WD40 261 308 1.75e-4 SMART
WD40 311 350 5.18e-7 SMART
WD40 353 392 8.04e-4 SMART
WD40 395 434 2.57e-11 SMART
WD40 437 477 2.93e-6 SMART
WD40 480 519 1.74e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107454
AA Change: N155S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000103078
Gene: ENSMUSG00000063851
AA Change: N155S

DomainStartEndE-ValueType
RING 13 59 3.78e-5 SMART
transmembrane domain 160 182 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107455
AA Change: N155S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000103079
Gene: ENSMUSG00000063851
AA Change: N155S

DomainStartEndE-ValueType
RING 13 59 3.78e-5 SMART
transmembrane domain 160 182 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148774
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 A T 15: 98,492,236 (GRCm39) N1007K probably damaging Het
Apon C A 10: 128,090,634 (GRCm39) A104E probably benign Het
Cdh15 T A 8: 123,591,715 (GRCm39) probably null Het
Cep135 T C 5: 76,779,297 (GRCm39) V769A probably benign Het
Cep152 A T 2: 125,421,954 (GRCm39) probably null Het
Clca3a1 T C 3: 144,711,863 (GRCm39) N711D probably damaging Het
Col1a2 T C 6: 4,531,143 (GRCm39) F731L unknown Het
Cpt1b T C 15: 89,303,246 (GRCm39) E603G probably damaging Het
Cspp1 T G 1: 10,174,471 (GRCm39) D641E possibly damaging Het
Ddr2 C T 1: 169,822,251 (GRCm39) R399Q probably benign Het
Dzip1 T C 14: 119,126,816 (GRCm39) probably null Het
Greb1 A G 12: 16,746,388 (GRCm39) V1294A probably damaging Het
Hmgb4 A G 4: 128,154,275 (GRCm39) S98P probably damaging Het
Kif12 G A 4: 63,085,196 (GRCm39) P515L probably benign Het
Kmt5b A C 19: 3,865,372 (GRCm39) E789A possibly damaging Het
Lama1 G T 17: 68,076,510 (GRCm39) V1095F probably benign Het
Leprot T C 4: 101,513,308 (GRCm39) V32A probably benign Het
Mcoln1 A G 8: 3,558,766 (GRCm39) T255A probably damaging Het
Mertk G A 2: 128,634,984 (GRCm39) E765K probably damaging Het
Muc5b A G 7: 141,417,853 (GRCm39) T3600A possibly damaging Het
Ncapd3 A T 9: 26,999,845 (GRCm39) E1395V probably benign Het
Ntrk2 T C 13: 58,956,616 (GRCm39) F25S probably benign Het
Or2a5 A G 6: 42,873,732 (GRCm39) M116V probably benign Het
Or6z1 G T 7: 6,504,487 (GRCm39) A246D probably damaging Het
Or7c70 T A 10: 78,683,612 (GRCm39) I46F probably damaging Het
Pappa C A 4: 65,269,924 (GRCm39) H1613N probably benign Het
Polq T C 16: 36,883,191 (GRCm39) V1785A probably damaging Het
Pramel23 A T 4: 143,424,612 (GRCm39) I277K possibly damaging Het
Prkar2a T C 9: 108,617,737 (GRCm39) probably null Het
Qrich2 T C 11: 116,334,603 (GRCm39) D2194G probably damaging Het
S1pr5 T C 9: 21,155,760 (GRCm39) N222S probably benign Het
Scnn1a C T 6: 125,307,965 (GRCm39) R170C probably damaging Het
Slc25a2 T C 18: 37,771,311 (GRCm39) T73A probably benign Het
Tgfb1 A G 7: 25,404,234 (GRCm39) N347S probably damaging Het
Ticrr T C 7: 79,315,433 (GRCm39) V229A probably benign Het
Tjp3 T C 10: 81,115,941 (GRCm39) E313G probably benign Het
Tnfsf11 A G 14: 78,521,682 (GRCm39) S176P probably benign Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vps39 C A 2: 120,154,160 (GRCm39) E612* probably null Het
Vwf T A 6: 125,619,095 (GRCm39) Y1258N possibly damaging Het
Other mutations in Rnf183
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Rnf183 APN 4 62,346,610 (GRCm39) missense probably benign 0.16
R1438:Rnf183 UTSW 4 62,346,760 (GRCm39) missense probably damaging 1.00
R5106:Rnf183 UTSW 4 62,346,465 (GRCm39) missense probably damaging 1.00
R5637:Rnf183 UTSW 4 62,346,387 (GRCm39) missense probably benign
R5693:Rnf183 UTSW 4 62,346,753 (GRCm39) missense possibly damaging 0.86
R6882:Rnf183 UTSW 4 62,346,261 (GRCm39) missense probably benign 0.38
R8560:Rnf183 UTSW 4 62,346,735 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAATAGTCCTCGGTCCAGCAAC -3'
(R):5'- TGCCTACAGACACTGCCATG -3'

Sequencing Primer
(F):5'- GCAACCACTGAGAAAGGCTCTG -3'
(R):5'- ACCATGTCATCCTAGAGGGC -3'
Posted On 2014-10-02