Incidental Mutation 'IGL00743:Rnf183'
ID13842
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf183
Ensembl Gene ENSMUSG00000063851
Gene Namering finger protein 183
Synonyms5830442J12Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00743
Quality Score
Status
Chromosome4
Chromosomal Location62427540-62435252 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 62428373 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 63 (T63A)
Ref Sequence ENSEMBL: ENSMUSP00000103079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079420] [ENSMUST00000084524] [ENSMUST00000107454] [ENSMUST00000107455]
Predicted Effect probably benign
Transcript: ENSMUST00000079420
AA Change: T63A

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000078389
Gene: ENSMUSG00000063851
AA Change: T63A

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: T63A

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103078
Gene: ENSMUSG00000063851
AA Change: T63A

DomainStartEndE-ValueType
RING 13 59 3.78e-5 SMART
transmembrane domain 160 182 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107455
AA Change: T63A

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103079
Gene: ENSMUSG00000063851
AA Change: T63A

DomainStartEndE-ValueType
RING 13 59 3.78e-5 SMART
transmembrane domain 160 182 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 T C 2: 150,619,686 E659G probably benign Het
Adgrg6 A C 10: 14,535,959 probably benign Het
Als2cl A G 9: 110,889,159 K323E possibly damaging Het
Atm A C 9: 53,513,116 S628R probably benign Het
Baz2a T C 10: 128,114,526 V443A probably benign Het
Bclaf3 T A X: 159,558,361 F545Y probably benign Het
Calcr T C 6: 3,717,196 Y88C probably damaging Het
Ccdc178 C T 18: 22,145,444 probably benign Het
Cdh20 A G 1: 104,947,428 T312A probably benign Het
Chrnd G A 1: 87,192,927 W91* probably null Het
Cntln T C 4: 84,979,415 F413S probably benign Het
Ctsq A T 13: 61,036,184 I308N probably damaging Het
Cyp2d34 A T 15: 82,617,535 V258D probably damaging Het
Dnajc13 G A 9: 104,162,780 P2044S probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hps6 A T 19: 46,003,660 D12V probably damaging Het
Hpse T C 5: 100,698,999 D188G probably benign Het
Id2 C A 12: 25,095,356 E123* probably null Het
Ints10 C T 8: 68,819,333 P562L probably damaging Het
Kctd10 G A 5: 114,367,349 R195C probably damaging Het
Kel A C 6: 41,688,575 L537R probably damaging Het
Kif19a T C 11: 114,784,773 V357A probably damaging Het
Lrrtm3 A T 10: 64,089,209 S60T probably damaging Het
Myof C A 19: 37,960,934 R608L probably benign Het
Naa35 A T 13: 59,630,671 I669F probably benign Het
Olfr968 A G 9: 39,772,111 S230P possibly damaging Het
Olfr971 A T 9: 39,839,706 I91F probably benign Het
Pclo G T 5: 14,678,021 probably benign Het
Pik3c3 C T 18: 30,274,364 S55F probably damaging Het
Prdm6 T G 18: 53,540,228 D153E possibly damaging Het
Samd4b A C 7: 28,401,877 I108S probably damaging Het
Slc9a7 T C X: 20,106,021 D708G possibly damaging Het
Stim2 A G 5: 54,053,493 D90G probably benign Het
Tmem52b A G 6: 129,516,715 D97G probably damaging Het
Tnfsf15 T C 4: 63,734,281 R98G probably benign Het
Uxs1 C T 1: 43,757,013 V310I probably benign Het
Vcan A C 13: 89,725,306 M143R probably damaging Het
Vmn2r93 T C 17: 18,326,242 F792S probably damaging Het
Zfp455 T C 13: 67,207,898 I345T probably benign Het
Zfp938 A T 10: 82,226,483 M101K probably benign Het
Zkscan2 A G 7: 123,479,972 S921P probably damaging Het
Other mutations in Rnf183
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1438:Rnf183 UTSW 4 62428523 missense probably damaging 1.00
R2178:Rnf183 UTSW 4 62428096 missense probably benign 0.02
R5106:Rnf183 UTSW 4 62428228 missense probably damaging 1.00
R5637:Rnf183 UTSW 4 62428150 missense probably benign
R5693:Rnf183 UTSW 4 62428516 missense possibly damaging 0.86
R6882:Rnf183 UTSW 4 62428024 missense probably benign 0.38
Posted On2012-12-06