Incidental Mutation 'IGL03185:Rnf145'
ID412431
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf145
Ensembl Gene ENSMUSG00000019189
Gene Namering finger protein 145
Synonyms3732413I11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL03185
Quality Score
Status
Chromosome11
Chromosomal Location44518964-44565520 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44531330 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 80 (L80P)
Ref Sequence ENSEMBL: ENSMUSP00000019333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019333] [ENSMUST00000101327]
Predicted Effect probably damaging
Transcript: ENSMUST00000019333
AA Change: L80P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019333
Gene: ENSMUSG00000019189
AA Change: L80P

DomainStartEndE-ValueType
Pfam:TRC8_N 8 506 2.8e-156 PFAM
RING 537 574 2.12e-8 SMART
low complexity region 590 601 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000101327
AA Change: L80P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098881
Gene: ENSMUSG00000019189
AA Change: L80P

DomainStartEndE-ValueType
Pfam:TRC8_N 7 266 1.2e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124959
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 T C 3: 89,347,905 D77G probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Babam2 T C 5: 31,702,032 I27T possibly damaging Het
BC027072 A T 17: 71,749,337 I1115K probably damaging Het
Ccdc150 A G 1: 54,300,323 E442G probably damaging Het
Ccdc92 A G 5: 124,835,950 Y172H probably damaging Het
Chl1 T A 6: 103,665,863 D187E probably damaging Het
Col6a4 A T 9: 106,019,454 F1721I probably damaging Het
Corin C T 5: 72,332,781 G542D probably damaging Het
Dennd1c C T 17: 57,066,803 D587N probably benign Het
Dnah10 A G 5: 124,817,643 Y3424C probably damaging Het
Echdc1 T A 10: 29,331,840 F127I possibly damaging Het
F13b T A 1: 139,516,386 V486E probably benign Het
Fkbp15 C T 4: 62,332,186 probably null Het
Glt8d2 T A 10: 82,662,276 I100F probably damaging Het
Gm15448 A G 7: 3,823,230 Y255H probably damaging Het
Gmip C T 8: 69,809,783 P10L probably benign Het
Grm7 T C 6: 110,646,222 S119P possibly damaging Het
Kdelc1 G A 1: 44,117,199 S76L probably benign Het
Klf4 T C 4: 55,530,911 T58A possibly damaging Het
Mink1 T C 11: 70,603,860 I289T probably damaging Het
Mptx2 A T 1: 173,274,789 V111D possibly damaging Het
Muc5b A T 7: 141,862,822 E3168D possibly damaging Het
Mylk3 C A 8: 85,327,204 V695F probably damaging Het
Olfr736 C A 14: 50,393,398 T214K probably damaging Het
Olfr836 T A 9: 19,121,738 V258E probably damaging Het
Pprc1 C A 19: 46,069,747 probably benign Het
Prkaa2 C T 4: 105,039,721 probably null Het
Prss50 A G 9: 110,858,211 Y74C probably benign Het
Serpinb3b T C 1: 107,156,932 I120V probably benign Het
Sgca T C 11: 94,970,784 M212V probably benign Het
Slc1a6 T A 10: 78,801,907 D422E probably damaging Het
Slc30a9 A G 5: 67,333,063 R226G probably benign Het
Slc5a11 A G 7: 123,265,189 D336G possibly damaging Het
Slfn8 T C 11: 83,017,507 H70R probably benign Het
Stoml2 T C 4: 43,029,065 N269S probably benign Het
Synrg A G 11: 83,981,479 E142G probably damaging Het
Thbs2 G A 17: 14,681,410 Q436* probably null Het
Tyk2 T C 9: 21,109,384 N917S probably damaging Het
Zfhx4 C A 3: 5,403,914 T3069K probably benign Het
Zfp446 G T 7: 12,978,998 V88F probably null Het
Zp3 A G 5: 135,982,721 N131S possibly damaging Het
Other mutations in Rnf145
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Rnf145 APN 11 44555212 missense possibly damaging 0.90
IGL02972:Rnf145 APN 11 44564038 missense probably benign 0.26
IGL03168:Rnf145 APN 11 44555158 missense probably damaging 1.00
IGL02980:Rnf145 UTSW 11 44561657 missense probably benign
R0112:Rnf145 UTSW 11 44564151 missense probably benign
R0346:Rnf145 UTSW 11 44555164 missense probably damaging 1.00
R0415:Rnf145 UTSW 11 44525138 missense probably damaging 0.99
R0452:Rnf145 UTSW 11 44561760 missense probably damaging 1.00
R0487:Rnf145 UTSW 11 44555229 missense probably benign 0.21
R0598:Rnf145 UTSW 11 44548943 missense probably damaging 1.00
R0631:Rnf145 UTSW 11 44560024 missense probably damaging 0.99
R0837:Rnf145 UTSW 11 44524988 missense probably benign 0.00
R1611:Rnf145 UTSW 11 44551798 missense probably damaging 1.00
R1971:Rnf145 UTSW 11 44548815 missense probably damaging 1.00
R1991:Rnf145 UTSW 11 44561466 missense possibly damaging 0.90
R2157:Rnf145 UTSW 11 44555170 missense probably damaging 1.00
R2340:Rnf145 UTSW 11 44531378 missense probably benign 0.04
R3855:Rnf145 UTSW 11 44531293 missense possibly damaging 0.46
R4483:Rnf145 UTSW 11 44564277 missense probably benign 0.10
R4564:Rnf145 UTSW 11 44548808 missense probably benign 0.25
R4922:Rnf145 UTSW 11 44557236 unclassified probably benign
R5633:Rnf145 UTSW 11 44560088 missense probably damaging 1.00
R5672:Rnf145 UTSW 11 44531293 missense possibly damaging 0.46
R5673:Rnf145 UTSW 11 44531293 missense possibly damaging 0.46
R5701:Rnf145 UTSW 11 44531293 missense possibly damaging 0.46
R5915:Rnf145 UTSW 11 44542722 critical splice donor site probably null
R6128:Rnf145 UTSW 11 44555191 missense probably damaging 1.00
R6502:Rnf145 UTSW 11 44525105 missense probably damaging 0.98
R6717:Rnf145 UTSW 11 44561490 missense probably benign 0.00
R6963:Rnf145 UTSW 11 44564277 missense probably benign 0.10
R7035:Rnf145 UTSW 11 44561756 missense probably damaging 1.00
R7154:Rnf145 UTSW 11 44524995 missense probably damaging 1.00
R7351:Rnf145 UTSW 11 44548796 missense possibly damaging 0.91
R7639:Rnf145 UTSW 11 44531357 missense probably damaging 1.00
Posted On2016-08-02