Incidental Mutation 'IGL01992:Rnf38'
ID183576
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: 0.616) question?
Stock #IGL01992
Quality Score
Status
Chromosome4
Chromosomal Location44126210-44233789 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44138806 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 229 (V229A)
Ref Sequence ENSEMBL: ENSMUSP00000116642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045793] [ENSMUST00000098098] [ENSMUST00000102934] [ENSMUST00000107836] [ENSMUST00000128426] [ENSMUST00000136730] [ENSMUST00000143337] [ENSMUST00000145760]
Predicted Effect probably damaging
Transcript: ENSMUST00000045793
AA Change: V229A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038477
Gene: ENSMUSG00000035696
AA Change: V229A

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 possibly damaging
Transcript: ENSMUST00000098098
AA Change: V261A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095702
Gene: ENSMUSG00000035696
AA Change: V261A

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 damaging
Transcript: ENSMUST00000102934
AA Change: V229A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099998
Gene: ENSMUSG00000035696
AA Change: V229A

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 damaging
Transcript: ENSMUST00000107836
AA Change: V229A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103467
Gene: ENSMUSG00000035696
AA Change: V229A

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: ENSMUST00000128426
SMART Domains Protein: ENSMUSP00000119889
Gene: ENSMUSG00000035696

DomainStartEndE-ValueType
low complexity region 32 51 N/A INTRINSIC
low complexity region 192 207 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000136730
AA Change: V229A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116642
Gene: ENSMUSG00000035696
AA Change: V229A

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 probably benign
Transcript: ENSMUST00000143337
SMART Domains Protein: ENSMUSP00000122342
Gene: ENSMUSG00000035696

DomainStartEndE-ValueType
low complexity region 32 51 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145378
Predicted Effect probably benign
Transcript: ENSMUST00000145760
SMART Domains Protein: ENSMUSP00000121329
Gene: ENSMUSG00000035696

DomainStartEndE-ValueType
low complexity region 32 51 N/A INTRINSIC
low complexity region 192 202 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152216
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933417A18Rik C T 13: 34,924,533 probably null Het
Ano3 A G 2: 110,658,219 M956T probably damaging Het
Ap2b1 T G 11: 83,335,530 V289G probably damaging Het
Asna1 G A 8: 85,018,556 A294V possibly damaging Het
Cacnb4 G T 2: 52,465,670 H208Q probably damaging Het
Cd5l G A 3: 87,367,811 R219Q probably benign Het
Dzip1l G T 9: 99,663,686 G663W probably damaging Het
Ecel1 G A 1: 87,149,855 probably benign Het
Eno1 A G 4: 150,239,536 T19A probably damaging Het
Fam26f A T 10: 34,127,537 C125S probably damaging Het
Fam46c A T 3: 100,472,630 M270K probably damaging Het
Fndc3a G A 14: 72,574,556 T315I probably benign Het
Galr1 T C 18: 82,393,817 N308S probably damaging Het
Maf A T 8: 115,705,963 S301T probably damaging Het
Map3k5 C T 10: 20,029,133 R394* probably null Het
Mroh8 C T 2: 157,213,696 G994D probably damaging Het
Myo10 T C 15: 25,799,548 V653A possibly damaging Het
Nucks1 A G 1: 131,931,090 K196E unknown Het
Nupl2 T C 5: 24,181,103 V211A probably benign Het
Olfr18 A T 9: 20,314,719 I59N probably damaging Het
Olfr732 C A 14: 50,281,341 R304L probably benign Het
Olfr851 A T 9: 19,496,774 I9F probably benign Het
Piwil1 C T 5: 128,747,332 T493I probably null Het
Plcd1 T C 9: 119,075,985 H216R probably benign Het
Pmp2 A T 3: 10,182,481 Y49* probably null Het
Saxo2 T C 7: 82,634,900 D250G probably damaging Het
Scn8a T G 15: 100,969,057 V98G probably damaging Het
Scnn1a T A 6: 125,338,937 probably null Het
Sepsecs C T 5: 52,644,060 R420Q probably benign Het
Slit2 T C 5: 48,238,417 S725P probably benign Het
Stk16 A G 1: 75,213,191 Q207R probably benign Het
Tapt1 C T 5: 44,178,990 V446M probably damaging Het
Tnni3k A C 3: 154,962,026 V250G probably damaging Het
Ttll8 C T 15: 88,915,645 G531E possibly damaging Het
U2surp A G 9: 95,482,181 F561L probably damaging Het
U2surp T A 9: 95,464,419 E862D possibly damaging Het
Unc5d A G 8: 28,652,791 Y878H probably damaging Het
Ust A G 10: 8,298,078 M221T probably benign Het
Wasf3 T C 5: 146,455,591 F157S probably damaging Het
Wdr64 G A 1: 175,706,071 C91Y probably damaging Het
Zan T C 5: 137,424,106 Y2750C unknown Het
Other mutations in Rnf38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Rnf38 APN 4 44137645 missense probably benign 0.09
IGL02682:Rnf38 APN 4 44133745 missense probably damaging 1.00
IGL02951:Rnf38 APN 4 44129619 nonsense probably null
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
Posted On2014-05-07