Incidental Mutation 'IGL00900:Rnf138'
ID29396
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf138
Ensembl Gene ENSMUSG00000024317
Gene Namering finger protein 138
Synonyms2810480D20Rik, 2410015A17Rik, Trif-d
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00900
Quality Score
Status
Chromosome18
Chromosomal Location21001341-21028223 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 21020960 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 174 (D174E)
Ref Sequence ENSEMBL: ENSMUSP00000072626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052396] [ENSMUST00000072847]
Predicted Effect possibly damaging
Transcript: ENSMUST00000052396
AA Change: D174E

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056641
Gene: ENSMUSG00000024317
AA Change: D174E

DomainStartEndE-ValueType
RING 18 57 1.65e-5 SMART
ZnF_C2H2 157 180 1.62e0 SMART
RING 159 192 1.5e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000072847
AA Change: D174E

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072626
Gene: ENSMUSG00000024317
AA Change: D174E

DomainStartEndE-ValueType
RING 18 57 1.65e-5 SMART
ZnF_C2H2 157 180 1.62e0 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,470,557 probably benign Het
Agap3 G A 5: 24,476,368 probably benign Het
Angptl2 A T 2: 33,243,772 M369L probably benign Het
Arhgef11 A G 3: 87,683,560 D36G possibly damaging Het
Ccnt1 A G 15: 98,554,633 V134A probably damaging Het
Ces1e T C 8: 93,217,617 H191R probably damaging Het
Dhh A G 15: 98,898,220 probably benign Het
Edil3 C A 13: 89,289,533 H418N probably benign Het
Fam161b T C 12: 84,355,969 I296V probably benign Het
Focad T A 4: 88,129,023 N86K probably damaging Het
Foxn1 C T 11: 78,371,283 G87S probably benign Het
Glipr1l2 T C 10: 112,097,982 Y220H probably benign Het
Hnrnpa1 A G 15: 103,243,739 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ipo11 T C 13: 106,847,444 M797V possibly damaging Het
Klhdc2 T A 12: 69,303,534 F118I probably benign Het
Mtap T A 4: 89,172,357 Y221* probably null Het
Myh2 T C 11: 67,179,384 V414A probably damaging Het
Ncor2 A T 5: 125,025,784 Y1999N probably damaging Het
Olfr1167 A G 2: 88,149,260 F253S possibly damaging Het
Oxsm A G 14: 16,242,023 S249P probably damaging Het
Pabpc4l T A 3: 46,447,072 I46F possibly damaging Het
Pcnx2 A G 8: 125,863,236 probably benign Het
Rasal2 A G 1: 157,411,929 S4P possibly damaging Het
Reln A G 5: 21,980,117 V1534A probably damaging Het
Sh3pxd2a T A 19: 47,314,155 N162Y probably benign Het
Slc6a4 A T 11: 77,023,180 T519S probably benign Het
Slfn9 A T 11: 82,981,371 C846* probably null Het
Ssfa2 G A 2: 79,660,478 R980Q probably damaging Het
Trip12 A G 1: 84,724,764 S1945P possibly damaging Het
Vmn1r232 A G 17: 20,914,132 F69L probably benign Het
Zeb2 T C 2: 44,997,275 D545G probably damaging Het
Other mutations in Rnf138
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Rnf138 APN 18 21020913 missense possibly damaging 0.50
IGL01471:Rnf138 APN 18 21024521 splice site probably null
R0655:Rnf138 UTSW 18 21010783 missense probably benign 0.00
R1103:Rnf138 UTSW 18 21026102 missense probably damaging 1.00
R1420:Rnf138 UTSW 18 21026102 missense probably damaging 1.00
R1993:Rnf138 UTSW 18 21024483 missense probably damaging 1.00
R2171:Rnf138 UTSW 18 21026086 missense probably damaging 1.00
R4682:Rnf138 UTSW 18 21010734 missense probably damaging 1.00
R5074:Rnf138 UTSW 18 21026147 missense probably benign 0.36
R6866:Rnf138 UTSW 18 21002142 missense probably damaging 1.00
R7257:Rnf138 UTSW 18 21008693 splice site probably null
Posted On2013-04-17