Incidental Mutation 'IGL02307:Rnf148'
ID 287642
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf148
Ensembl Gene ENSMUSG00000078179
Gene Name ring finger protein 148
Synonyms 4933432M07Rik, Greul3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL02307
Quality Score
Status
Chromosome 6
Chromosomal Location 23653897-23655135 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 23654890 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 35 (S35R)
Ref Sequence ENSEMBL: ENSMUSP00000100592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018122] [ENSMUST00000063548] [ENSMUST00000069074] [ENSMUST00000104979] [ENSMUST00000115354] [ENSMUST00000115356] [ENSMUST00000115358] [ENSMUST00000115361] [ENSMUST00000142913] [ENSMUST00000163871] [ENSMUST00000166458]
AlphaFold G3X9R7
Predicted Effect probably benign
Transcript: ENSMUST00000018122
SMART Domains Protein: ENSMUSP00000018122
Gene: ENSMUSG00000017978

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 31 65 N/A INTRINSIC
low complexity region 114 126 N/A INTRINSIC
coiled coil region 265 285 N/A INTRINSIC
C2 369 467 1.51e-1 SMART
PH 492 596 2.94e-11 SMART
DUF1041 801 902 1.14e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000063548
SMART Domains Protein: ENSMUSP00000066906
Gene: ENSMUSG00000051956

DomainStartEndE-ValueType
Pfam:PA 94 162 3.6e-11 PFAM
RING 213 253 6.43e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069074
SMART Domains Protein: ENSMUSP00000064876
Gene: ENSMUSG00000017978

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 31 65 N/A INTRINSIC
low complexity region 114 126 N/A INTRINSIC
coiled coil region 265 285 N/A INTRINSIC
C2 369 467 1.51e-1 SMART
PH 492 596 2.94e-11 SMART
DUF1041 801 895 5.54e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000104979
AA Change: S35R

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000100592
Gene: ENSMUSG00000078179
AA Change: S35R

DomainStartEndE-ValueType
low complexity region 25 43 N/A INTRINSIC
Pfam:PA 82 178 1e-13 PFAM
RING 269 309 1.82e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115354
SMART Domains Protein: ENSMUSP00000111011
Gene: ENSMUSG00000051956

DomainStartEndE-ValueType
Pfam:PA 70 165 1.9e-13 PFAM
RING 256 296 6.43e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115356
SMART Domains Protein: ENSMUSP00000111013
Gene: ENSMUSG00000017978

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 31 65 N/A INTRINSIC
low complexity region 114 126 N/A INTRINSIC
coiled coil region 265 285 N/A INTRINSIC
C2 369 467 1.51e-1 SMART
PH 492 596 2.94e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136279
Predicted Effect probably benign
Transcript: ENSMUST00000115358
SMART Domains Protein: ENSMUSP00000111015
Gene: ENSMUSG00000017978

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 31 65 N/A INTRINSIC
low complexity region 114 126 N/A INTRINSIC
coiled coil region 265 285 N/A INTRINSIC
C2 369 467 1.51e-1 SMART
PH 492 596 2.94e-11 SMART
DUF1041 801 902 1.14e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115361
SMART Domains Protein: ENSMUSP00000111018
Gene: ENSMUSG00000017978

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 31 65 N/A INTRINSIC
low complexity region 114 126 N/A INTRINSIC
coiled coil region 265 285 N/A INTRINSIC
C2 369 467 1.51e-1 SMART
PH 492 596 2.94e-11 SMART
DUF1041 801 892 1.9e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142913
SMART Domains Protein: ENSMUSP00000138167
Gene: ENSMUSG00000017978

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 22 39 N/A INTRINSIC
low complexity region 85 97 N/A INTRINSIC
coiled coil region 236 256 N/A INTRINSIC
C2 340 438 1.51e-1 SMART
PH 463 567 2.94e-11 SMART
DUF1041 772 873 1.14e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163871
SMART Domains Protein: ENSMUSP00000128905
Gene: ENSMUSG00000017978

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 31 65 N/A INTRINSIC
low complexity region 114 126 N/A INTRINSIC
coiled coil region 265 285 N/A INTRINSIC
C2 369 467 1.51e-1 SMART
PH 492 596 2.94e-11 SMART
DUF1041 801 902 7.2e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166458
SMART Domains Protein: ENSMUSP00000125972
Gene: ENSMUSG00000017978

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 85 97 N/A INTRINSIC
coiled coil region 236 256 N/A INTRINSIC
C2 340 438 1.51e-1 SMART
PH 463 567 2.94e-11 SMART
DUF1041 772 873 1.05e-51 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,935,395 (GRCm39) D323G probably damaging Het
Ankrd28 A G 14: 31,455,665 (GRCm39) C417R probably damaging Het
Astn1 C T 1: 158,502,184 (GRCm39) R1133C probably damaging Het
Bdp1 C A 13: 100,229,946 (GRCm39) G256V probably damaging Het
Cald1 A G 6: 34,730,390 (GRCm39) K252E probably damaging Het
Ccdc141 T C 2: 76,859,686 (GRCm39) E985G probably damaging Het
Cdc23 A G 18: 34,774,442 (GRCm39) I279T possibly damaging Het
Col16a1 C T 4: 129,952,802 (GRCm39) P416L probably damaging Het
Coro1a T C 7: 126,300,736 (GRCm39) D197G probably damaging Het
Ctnnd2 C T 15: 30,647,357 (GRCm39) T351I possibly damaging Het
Fam76b A G 9: 13,755,332 (GRCm39) N313S probably damaging Het
Fbxw20 C A 9: 109,062,601 (GRCm39) W75L possibly damaging Het
Gjd2 T C 2: 113,842,394 (GRCm39) T28A possibly damaging Het
Glyctk A C 9: 106,032,963 (GRCm39) L350R possibly damaging Het
Gm20726 A T 14: 54,870,060 (GRCm39) V237D probably damaging Het
Gm57858 T C 3: 36,073,016 (GRCm39) K422R possibly damaging Het
Gpr22 C A 12: 31,758,739 (GRCm39) C461F possibly damaging Het
Grhl2 A G 15: 37,288,532 (GRCm39) T279A probably damaging Het
Gstm3 G A 3: 107,874,929 (GRCm39) R108C probably damaging Het
Haus6 T C 4: 86,502,072 (GRCm39) T600A possibly damaging Het
Htra4 G A 8: 25,523,710 (GRCm39) A285V probably damaging Het
Igkv14-100 C T 6: 68,496,349 (GRCm39) P81S probably damaging Het
Kif24 T G 4: 41,395,274 (GRCm39) Q533P probably benign Het
Klhl1 A T 14: 96,438,809 (GRCm39) N496K possibly damaging Het
Lama3 G T 18: 12,714,840 (GRCm39) R1667L probably benign Het
Lct T A 1: 128,214,327 (GRCm39) H1815L possibly damaging Het
Mrgprb2 T A 7: 48,202,644 (GRCm39) Y27F probably benign Het
Mrpl15 A T 1: 4,854,176 (GRCm39) H86Q possibly damaging Het
Myo10 C T 15: 25,776,401 (GRCm39) probably benign Het
Nrp1 T C 8: 129,229,201 (GRCm39) L893P probably damaging Het
Or4n4b A C 14: 50,536,295 (GRCm39) I157S probably damaging Het
Or51a8 A T 7: 102,550,086 (GRCm39) N171Y probably benign Het
Ovol1 T A 19: 5,603,643 (GRCm39) D86V possibly damaging Het
Pacs2 T A 12: 113,034,393 (GRCm39) M851K probably damaging Het
Pde1a A T 2: 79,736,412 (GRCm39) M39K possibly damaging Het
Pdpn T C 4: 143,000,550 (GRCm39) H94R possibly damaging Het
Plcg2 T A 8: 118,306,635 (GRCm39) probably null Het
Pzp A T 6: 128,466,049 (GRCm39) Y1210* probably null Het
Ros1 A T 10: 52,004,534 (GRCm39) S1008T possibly damaging Het
Rps18-ps6 G T 13: 97,896,871 (GRCm39) Q76K probably benign Het
Sis A T 3: 72,819,167 (GRCm39) probably benign Het
Spag9 T A 11: 93,992,986 (GRCm39) probably null Het
Srbd1 A G 17: 86,433,616 (GRCm39) L327P probably damaging Het
Steap3 A T 1: 120,169,390 (GRCm39) Y264* probably null Het
Swap70 A G 7: 109,880,501 (GRCm39) E572G probably benign Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Trmt11 T C 10: 30,470,150 (GRCm39) D58G possibly damaging Het
Tsc22d1 T C 14: 76,653,901 (GRCm39) S127P probably damaging Het
Usf1 T A 1: 171,243,314 (GRCm39) S30R probably damaging Het
Ush1c A G 7: 45,846,612 (GRCm39) probably benign Het
Utrn A T 10: 12,625,809 (GRCm39) L124* probably null Het
Vmn2r75 T C 7: 85,814,974 (GRCm39) N173S probably benign Het
Zic2 T C 14: 122,714,046 (GRCm39) V320A possibly damaging Het
Other mutations in Rnf148
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01727:Rnf148 APN 6 23,655,001 (GRCm39) intron probably benign
IGL02347:Rnf148 APN 6 23,654,729 (GRCm39) missense probably benign 0.01
IGL02366:Rnf148 APN 6 23,654,058 (GRCm39) missense probably benign 0.12
IGL02598:Rnf148 APN 6 23,654,456 (GRCm39) missense probably damaging 1.00
R0427:Rnf148 UTSW 6 23,654,072 (GRCm39) missense probably damaging 0.99
R0458:Rnf148 UTSW 6 23,654,256 (GRCm39) missense probably benign 0.37
R0465:Rnf148 UTSW 6 23,654,684 (GRCm39) missense probably benign 0.02
R0514:Rnf148 UTSW 6 23,654,792 (GRCm39) missense possibly damaging 0.95
R0538:Rnf148 UTSW 6 23,654,237 (GRCm39) missense probably damaging 1.00
R0658:Rnf148 UTSW 6 23,654,456 (GRCm39) missense probably damaging 1.00
R1831:Rnf148 UTSW 6 23,654,772 (GRCm39) missense probably damaging 1.00
R2238:Rnf148 UTSW 6 23,654,345 (GRCm39) missense probably benign 0.41
R3741:Rnf148 UTSW 6 23,654,064 (GRCm39) missense possibly damaging 0.78
R4933:Rnf148 UTSW 6 23,654,339 (GRCm39) missense probably benign 0.02
R5188:Rnf148 UTSW 6 23,654,139 (GRCm39) missense probably damaging 1.00
R6386:Rnf148 UTSW 6 23,654,483 (GRCm39) missense probably damaging 1.00
R7231:Rnf148 UTSW 6 23,654,890 (GRCm39) missense probably benign 0.34
R7526:Rnf148 UTSW 6 23,654,283 (GRCm39) nonsense probably null
R7613:Rnf148 UTSW 6 23,654,979 (GRCm39) missense probably benign 0.01
R8025:Rnf148 UTSW 6 23,654,196 (GRCm39) missense possibly damaging 0.55
R8463:Rnf148 UTSW 6 23,654,801 (GRCm39) missense probably benign 0.01
R8520:Rnf148 UTSW 6 23,654,169 (GRCm39) missense probably damaging 1.00
R8545:Rnf148 UTSW 6 23,654,570 (GRCm39) missense probably damaging 1.00
R8791:Rnf148 UTSW 6 23,654,993 (GRCm39) start codon destroyed probably null 0.02
R8825:Rnf148 UTSW 6 23,654,378 (GRCm39) missense probably benign 0.25
R8826:Rnf148 UTSW 6 23,654,378 (GRCm39) missense probably benign 0.25
R8868:Rnf148 UTSW 6 23,654,540 (GRCm39) missense probably damaging 0.98
R8931:Rnf148 UTSW 6 23,654,704 (GRCm39) missense possibly damaging 0.82
R9710:Rnf148 UTSW 6 23,654,802 (GRCm39) missense possibly damaging 0.64
Posted On 2015-04-16