Incidental Mutation 'IGL03008:Rnf10'
ID 407656
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf10
Ensembl Gene ENSMUSG00000041740
Gene Name ring finger protein 10
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.700) question?
Stock # IGL03008
Quality Score
Status
Chromosome 5
Chromosomal Location 115379829-115410980 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 115389355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 271 (H271N)
Ref Sequence ENSEMBL: ENSMUSP00000041778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040555] [ENSMUST00000112096] [ENSMUST00000112097]
AlphaFold Q3UIW5
Predicted Effect possibly damaging
Transcript: ENSMUST00000040555
AA Change: H271N

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041778
Gene: ENSMUSG00000041740
AA Change: H271N

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
low complexity region 18 31 N/A INTRINSIC
low complexity region 78 90 N/A INTRINSIC
low complexity region 100 114 N/A INTRINSIC
low complexity region 152 166 N/A INTRINSIC
RING 225 266 1.98e-8 SMART
low complexity region 379 400 N/A INTRINSIC
low complexity region 439 461 N/A INTRINSIC
low complexity region 591 618 N/A INTRINSIC
low complexity region 660 671 N/A INTRINSIC
low complexity region 781 792 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112096
AA Change: H271N

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107725
Gene: ENSMUSG00000041740
AA Change: H271N

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
low complexity region 18 31 N/A INTRINSIC
low complexity region 78 90 N/A INTRINSIC
low complexity region 100 114 N/A INTRINSIC
low complexity region 152 166 N/A INTRINSIC
RING 225 266 1.98e-8 SMART
low complexity region 379 400 N/A INTRINSIC
low complexity region 439 461 N/A INTRINSIC
low complexity region 591 618 N/A INTRINSIC
low complexity region 660 671 N/A INTRINSIC
low complexity region 782 793 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112097
AA Change: H271N

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107726
Gene: ENSMUSG00000041740
AA Change: H271N

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
low complexity region 18 31 N/A INTRINSIC
low complexity region 78 90 N/A INTRINSIC
low complexity region 100 114 N/A INTRINSIC
low complexity region 152 166 N/A INTRINSIC
RING 225 266 1.98e-8 SMART
low complexity region 379 400 N/A INTRINSIC
low complexity region 440 462 N/A INTRINSIC
low complexity region 592 619 N/A INTRINSIC
low complexity region 661 672 N/A INTRINSIC
low complexity region 783 794 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133276
Predicted Effect unknown
Transcript: ENSMUST00000139853
AA Change: H233N
SMART Domains Protein: ENSMUSP00000131696
Gene: ENSMUSG00000041740
AA Change: H233N

DomainStartEndE-ValueType
low complexity region 41 53 N/A INTRINSIC
low complexity region 63 77 N/A INTRINSIC
low complexity region 115 129 N/A INTRINSIC
RING 188 229 1.98e-8 SMART
low complexity region 342 363 N/A INTRINSIC
low complexity region 402 424 N/A INTRINSIC
low complexity region 554 581 N/A INTRINSIC
low complexity region 623 634 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202855
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoding this gene is a member of the really interesting new gene finger protein family. Members of this family contain protein motifs similar to zinc finger domains and are involved in many processes that include transcriptional regulation, DNA repair and signal transduction. Expression of this gene is upregulated during neuronal differentiation of cultured cells, and inhibition of its expression impairs differentiation and cell cycle exit, providing evidence for a function in neuronal differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aga T C 8: 53,964,861 (GRCm39) S8P probably benign Het
Ankrd34c C T 9: 89,612,337 (GRCm39) M1I probably null Het
Ankrd44 T C 1: 54,805,968 (GRCm39) H146R probably damaging Het
Bst1 A G 5: 43,983,604 (GRCm39) probably null Het
Btbd8 T G 5: 107,639,464 (GRCm39) probably null Het
Cdh12 A T 15: 21,480,416 (GRCm39) I211F probably damaging Het
Cenpj G T 14: 56,764,406 (GRCm39) D1335E probably benign Het
Clpx G A 9: 65,230,057 (GRCm39) V502I possibly damaging Het
Cntnap4 T C 8: 113,500,222 (GRCm39) S505P probably benign Het
Cog2 T C 8: 125,262,131 (GRCm39) probably benign Het
Cped1 A G 6: 22,233,601 (GRCm39) Q819R probably benign Het
Cspg4 A G 9: 56,805,759 (GRCm39) E2190G possibly damaging Het
Ctsa G A 2: 164,679,368 (GRCm39) R359Q probably damaging Het
Cul9 A G 17: 46,813,623 (GRCm39) probably benign Het
Dab1 G T 4: 104,584,777 (GRCm39) V306F probably damaging Het
Dysf A G 6: 84,050,876 (GRCm39) I438V probably benign Het
Eif4g3 G T 4: 137,847,699 (GRCm39) G380W probably damaging Het
Exd1 T A 2: 119,350,862 (GRCm39) K466N probably benign Het
Eya3 A C 4: 132,434,294 (GRCm39) D325A probably damaging Het
Fmn1 A G 2: 113,195,445 (GRCm39) T382A unknown Het
Fry T A 5: 150,269,021 (GRCm39) D106E possibly damaging Het
Gm21957 T A 7: 124,818,733 (GRCm39) noncoding transcript Het
Gm44511 A G 6: 128,761,059 (GRCm39) probably benign Het
Itga4 A G 2: 79,155,982 (GRCm39) I983V probably benign Het
Lrpprc A T 17: 85,058,675 (GRCm39) D5E probably benign Het
Lrrc37 T C 11: 103,511,293 (GRCm39) E225G unknown Het
Ltbp4 G T 7: 27,023,789 (GRCm39) N747K probably damaging Het
Minar1 A G 9: 89,478,731 (GRCm39) Y772H probably damaging Het
Mlh3 T C 12: 85,287,625 (GRCm39) Q1308R probably benign Het
Mtfr2 T A 10: 20,229,185 (GRCm39) C63S possibly damaging Het
Myh11 T A 16: 14,022,617 (GRCm39) M1661L probably benign Het
Myo1c T C 11: 75,549,240 (GRCm39) M137T probably benign Het
Myocd A C 11: 65,078,392 (GRCm39) L340V probably damaging Het
Napsa A T 7: 44,235,220 (GRCm39) Q335L possibly damaging Het
Nlrp4b C A 7: 10,448,516 (GRCm39) Q240K probably benign Het
Npepps A C 11: 97,128,984 (GRCm39) F400C probably damaging Het
Nxpe4 A T 9: 48,304,738 (GRCm39) E275V probably benign Het
Ofd1 T C X: 165,192,530 (GRCm39) D501G probably benign Het
Or13a19 T C 7: 139,903,445 (GRCm39) Y278H probably damaging Het
Or4f6 A G 2: 111,838,868 (GRCm39) I221T possibly damaging Het
Or5p79 T G 7: 108,221,490 (GRCm39) L157R probably damaging Het
Or8k41 A T 2: 86,313,678 (GRCm39) M136K probably damaging Het
P2ry1 A T 3: 60,910,947 (GRCm39) T29S probably benign Het
Papss1 T C 3: 131,290,860 (GRCm39) V201A possibly damaging Het
Paxip1 A G 5: 27,957,764 (GRCm39) V864A probably benign Het
Pcdhgc5 T A 18: 37,954,887 (GRCm39) H720Q probably benign Het
Pdxdc1 T C 16: 13,694,023 (GRCm39) N133S possibly damaging Het
Prkar1a T C 11: 109,544,690 (GRCm39) I27T probably damaging Het
Scn9a A G 2: 66,392,855 (GRCm39) S246P probably damaging Het
Sertad2 G T 11: 20,597,798 (GRCm39) probably benign Het
Slc22a27 A G 19: 7,887,067 (GRCm39) I274T possibly damaging Het
Slc22a5 A T 11: 53,782,058 (GRCm39) V103E probably damaging Het
Slc5a9 A T 4: 111,748,138 (GRCm39) F225I probably benign Het
Slc6a3 G A 13: 73,706,404 (GRCm39) probably null Het
Smcr8 A G 11: 60,669,287 (GRCm39) E145G probably damaging Het
Spen A T 4: 141,203,448 (GRCm39) D1726E possibly damaging Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Stag1 A T 9: 100,658,844 (GRCm39) N144Y probably damaging Het
Strada T C 11: 106,061,783 (GRCm39) H156R probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tas2r138 A C 6: 40,590,116 (GRCm39) D43E probably damaging Het
Tdpoz3 A T 3: 93,733,642 (GRCm39) K106* probably null Het
Trbv13-1 A G 6: 41,093,229 (GRCm39) D54G probably damaging Het
Ttc39b A G 4: 83,165,932 (GRCm39) V218A probably benign Het
Ttn G A 2: 76,611,203 (GRCm39) T15697I probably damaging Het
Ugt2b38 G A 5: 87,560,282 (GRCm39) T344I probably benign Het
Vmn2r94 T C 17: 18,477,908 (GRCm39) M168V probably benign Het
Wdr11 T C 7: 129,208,715 (GRCm39) probably benign Het
Wipf2 T C 11: 98,783,554 (GRCm39) probably benign Het
Zranb2 T A 3: 157,252,302 (GRCm39) probably null Het
Other mutations in Rnf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Rnf10 APN 5 115,395,042 (GRCm39) missense probably damaging 1.00
IGL01995:Rnf10 APN 5 115,389,161 (GRCm39) nonsense probably null
IGL02291:Rnf10 APN 5 115,398,255 (GRCm39) missense probably damaging 1.00
IGL02751:Rnf10 APN 5 115,380,725 (GRCm39) missense probably benign 0.20
IGL02897:Rnf10 APN 5 115,386,700 (GRCm39) missense probably benign
IGL02968:Rnf10 APN 5 115,383,947 (GRCm39) missense probably benign 0.05
IGL03098:Rnf10 UTSW 5 115,410,426 (GRCm39) missense probably damaging 1.00
R0409:Rnf10 UTSW 5 115,393,506 (GRCm39) splice site probably benign
R1083:Rnf10 UTSW 5 115,398,163 (GRCm39) splice site probably benign
R1754:Rnf10 UTSW 5 115,383,924 (GRCm39) missense probably damaging 0.99
R1957:Rnf10 UTSW 5 115,398,381 (GRCm39) splice site probably benign
R2398:Rnf10 UTSW 5 115,385,332 (GRCm39) missense probably benign 0.33
R2848:Rnf10 UTSW 5 115,387,171 (GRCm39) missense probably benign
R2849:Rnf10 UTSW 5 115,387,171 (GRCm39) missense probably benign
R4527:Rnf10 UTSW 5 115,398,210 (GRCm39) missense probably damaging 0.96
R4617:Rnf10 UTSW 5 115,386,762 (GRCm39) missense probably damaging 1.00
R4673:Rnf10 UTSW 5 115,389,148 (GRCm39) missense probably damaging 0.99
R4823:Rnf10 UTSW 5 115,393,501 (GRCm39) critical splice acceptor site probably null
R5560:Rnf10 UTSW 5 115,388,057 (GRCm39) missense probably damaging 1.00
R5805:Rnf10 UTSW 5 115,382,127 (GRCm39) missense probably benign
R6192:Rnf10 UTSW 5 115,395,136 (GRCm39) missense probably damaging 1.00
R7061:Rnf10 UTSW 5 115,395,149 (GRCm39) missense probably damaging 0.98
R7206:Rnf10 UTSW 5 115,382,180 (GRCm39) missense probably benign 0.04
R7213:Rnf10 UTSW 5 115,380,533 (GRCm39) missense probably damaging 1.00
R7213:Rnf10 UTSW 5 115,380,532 (GRCm39) missense probably damaging 1.00
R7429:Rnf10 UTSW 5 115,386,739 (GRCm39) missense probably damaging 1.00
R8098:Rnf10 UTSW 5 115,389,438 (GRCm39) missense probably damaging 0.98
R8179:Rnf10 UTSW 5 115,398,176 (GRCm39) frame shift probably null
R8252:Rnf10 UTSW 5 115,398,373 (GRCm39) missense probably benign 0.03
R8357:Rnf10 UTSW 5 115,410,320 (GRCm39) missense possibly damaging 0.54
R8457:Rnf10 UTSW 5 115,410,320 (GRCm39) missense possibly damaging 0.54
R9160:Rnf10 UTSW 5 115,398,249 (GRCm39) missense probably benign 0.06
R9274:Rnf10 UTSW 5 115,385,322 (GRCm39) nonsense probably null
Posted On 2016-08-02