Incidental Mutation 'IGL02951:Rnf38'
ID365996
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf38
Ensembl Gene ENSMUSG00000035696
Gene Namering finger protein 38
Synonyms2610202O07Rik, Oip1, 1700065B19Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.522) question?
Stock #IGL02951
Quality Score
Status
Chromosome4
Chromosomal Location44126210-44233789 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 44129619 bp
ZygosityHeterozygous
Amino Acid Change Serine to Stop codon at position 425 (S425*)
Ref Sequence ENSEMBL: ENSMUSP00000103467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045793] [ENSMUST00000098098] [ENSMUST00000102934] [ENSMUST00000107836] [ENSMUST00000136730]
Predicted Effect probably null
Transcript: ENSMUST00000045793
AA Change: S425*
SMART Domains Protein: ENSMUSP00000038477
Gene: ENSMUSG00000035696
AA Change: S425*

DomainStartEndE-ValueType
low complexity region 32 51 N/A INTRINSIC
low complexity region 192 207 N/A INTRINSIC
low complexity region 244 258 N/A INTRINSIC
low complexity region 287 310 N/A INTRINSIC
RING 380 420 9.09e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000098098
AA Change: S457*
SMART Domains Protein: ENSMUSP00000095702
Gene: ENSMUSG00000035696
AA Change: S457*

DomainStartEndE-ValueType
low complexity region 24 32 N/A INTRINSIC
low complexity region 64 83 N/A INTRINSIC
low complexity region 224 239 N/A INTRINSIC
low complexity region 276 290 N/A INTRINSIC
low complexity region 319 342 N/A INTRINSIC
RING 412 452 9.09e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000102934
AA Change: S425*
SMART Domains Protein: ENSMUSP00000099998
Gene: ENSMUSG00000035696
AA Change: S425*

DomainStartEndE-ValueType
low complexity region 32 51 N/A INTRINSIC
low complexity region 192 207 N/A INTRINSIC
low complexity region 244 258 N/A INTRINSIC
low complexity region 287 310 N/A INTRINSIC
RING 380 420 9.09e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000107836
AA Change: S425*
SMART Domains Protein: ENSMUSP00000103467
Gene: ENSMUSG00000035696
AA Change: S425*

DomainStartEndE-ValueType
low complexity region 32 51 N/A INTRINSIC
low complexity region 192 207 N/A INTRINSIC
low complexity region 244 258 N/A INTRINSIC
low complexity region 287 310 N/A INTRINSIC
RING 380 420 9.09e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136730
SMART Domains Protein: ENSMUSP00000116642
Gene: ENSMUSG00000035696

DomainStartEndE-ValueType
low complexity region 32 51 N/A INTRINSIC
low complexity region 192 207 N/A INTRINSIC
low complexity region 244 258 N/A INTRINSIC
low complexity region 287 310 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148869
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a coiled-coil motif and a RING-H2 motif (C3H2C2) at its carboxy-terminus. The RING motif is a zinc-binding domain found in a large set of proteins playing roles in diverse cellular processes including oncogenesis, development, signal transduction, and apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C A 10: 76,454,702 probably benign Het
Acot10 G A 15: 20,665,782 T291I probably benign Het
Atp13a3 A G 16: 30,338,621 probably null Het
Atp2a1 C T 7: 126,450,227 V548M possibly damaging Het
Bsn G A 9: 108,115,613 S980L probably damaging Het
Ccdc158 A G 5: 92,650,006 M425T probably damaging Het
Cdh23 A G 10: 60,311,364 L2733S probably damaging Het
Chd3 C T 11: 69,361,048 probably null Het
Dock2 T C 11: 34,310,448 probably benign Het
Elfn2 T C 15: 78,671,882 K822E probably damaging Het
Eps15l1 G A 8: 72,358,396 S764L probably benign Het
Etl4 C A 2: 20,801,537 probably benign Het
Faap24 C A 7: 35,392,951 K180N probably damaging Het
Fam205a1 C T 4: 42,850,696 E487K probably benign Het
Fhod1 G A 8: 105,331,230 R888W probably damaging Het
Fus T C 7: 127,981,837 probably benign Het
Gm3453 T C 14: 5,976,168 E201G possibly damaging Het
Gm5346 T G 8: 43,627,088 H33P possibly damaging Het
Gnpat G T 8: 124,870,905 D69Y probably benign Het
Gpaa1 T A 15: 76,332,819 probably benign Het
Gsta1 A T 9: 78,242,537 K211* probably null Het
Lct G T 1: 128,300,211 Q1182K probably damaging Het
Mroh1 T C 15: 76,427,636 L523P probably damaging Het
Mrpl46 A G 7: 78,775,452 probably benign Het
Mst1r G T 9: 107,908,204 V354F possibly damaging Het
Myo15b A G 11: 115,881,301 D299G probably damaging Het
Myo6 G A 9: 80,264,234 V506I possibly damaging Het
Nadk A C 4: 155,587,476 K271Q probably benign Het
Nbas A G 12: 13,362,541 R954G probably benign Het
Nbr1 T A 11: 101,571,979 probably null Het
Nup88 T C 11: 70,944,872 D587G possibly damaging Het
Oas1a A T 5: 120,905,664 F135Y probably damaging Het
Obscn A G 11: 58,994,513 probably benign Het
Odf3l2 T C 10: 79,639,977 N251S probably benign Het
Olfr1290 T G 2: 111,490,120 I13L probably benign Het
Parp14 G A 16: 35,858,533 T355I probably benign Het
Pdgfd G T 9: 6,288,494 L43F probably damaging Het
Pou5f2 T C 13: 78,025,118 S60P probably benign Het
Prp2 A G 6: 132,599,825 N25S unknown Het
Ptprq A T 10: 107,667,460 F779Y probably benign Het
Rims2 C T 15: 39,534,938 R1078C probably damaging Het
Rps21 T A 2: 180,258,047 I59N probably damaging Het
Scn5a A T 9: 119,495,685 F1359Y probably damaging Het
Slc35b2 A G 17: 45,564,768 E67G probably damaging Het
Slc37a2 A G 9: 37,255,315 F15L probably benign Het
Snapc4 A C 2: 26,370,835 N465K probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Taco1 A G 11: 106,069,527 N98S probably benign Het
Tcea3 T C 4: 136,257,988 probably null Het
Thada T C 17: 84,444,028 S507G probably benign Het
Tmem132b T A 5: 125,787,547 C906S probably damaging Het
Trpm2 A T 10: 77,929,278 I963N possibly damaging Het
Usp10 A G 8: 119,947,086 T397A probably benign Het
Usp3 G A 9: 66,542,550 R160* probably null Het
Utp15 T C 13: 98,257,952 Y144C probably damaging Het
Xpc G A 6: 91,506,849 R172W probably damaging Het
Other mutations in Rnf38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Rnf38 APN 4 44137645 missense probably benign 0.09
IGL01992:Rnf38 APN 4 44138806 missense probably damaging 1.00
IGL02682:Rnf38 APN 4 44133745 missense probably damaging 1.00
IGL03032:Rnf38 APN 4 44152529 missense probably damaging 0.99
IGL03326:Rnf38 APN 4 44149182 missense probably benign 0.27
R0335:Rnf38 UTSW 4 44152507 missense possibly damaging 0.59
R0336:Rnf38 UTSW 4 44152350 splice site probably benign
R1473:Rnf38 UTSW 4 44131584 missense probably benign 0.00
R1552:Rnf38 UTSW 4 44142468 splice site probably null
R1670:Rnf38 UTSW 4 44138681 missense probably damaging 0.96
R1708:Rnf38 UTSW 4 44143593 missense probably damaging 1.00
R1943:Rnf38 UTSW 4 44138748 missense probably damaging 0.99
R2063:Rnf38 UTSW 4 44149098 missense probably damaging 0.99
R4348:Rnf38 UTSW 4 44149100 missense possibly damaging 0.84
R4352:Rnf38 UTSW 4 44149100 missense possibly damaging 0.84
R4353:Rnf38 UTSW 4 44149100 missense possibly damaging 0.84
R4618:Rnf38 UTSW 4 44142450 missense probably damaging 1.00
R4967:Rnf38 UTSW 4 44152460 missense probably damaging 1.00
R5230:Rnf38 UTSW 4 44149176 missense probably benign 0.17
R6275:Rnf38 UTSW 4 44152408 missense probably benign 0.11
R6855:Rnf38 UTSW 4 44149224 missense probably damaging 1.00
R7200:Rnf38 UTSW 4 44137620 missense probably benign 0.01
R7326:Rnf38 UTSW 4 44158989 intron probably benign
R7351:Rnf38 UTSW 4 44149102 missense probably benign 0.40
R8728:Rnf38 UTSW 4 44131615 missense probably benign 0.17
Posted On2015-12-18