Incidental Mutation 'IGL01482:3110009E18Rik'
ID88647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 3110009E18Rik
Ensembl Gene ENSMUSG00000026388
Gene NameRIKEN cDNA 3110009E18 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL01482
Quality Score
Status
Chromosome1
Chromosomal Location120121187-120188189 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 120171471 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 98 (D98V)
Ref Sequence ENSEMBL: ENSMUSP00000108263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027637] [ENSMUST00000056038] [ENSMUST00000112644]
Predicted Effect probably benign
Transcript: ENSMUST00000027637
SMART Domains Protein: ENSMUSP00000027637
Gene: ENSMUSG00000026388

DomainStartEndE-ValueType
Pfam:DUF2340 8 93 3.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056038
SMART Domains Protein: ENSMUSP00000053335
Gene: ENSMUSG00000026388

DomainStartEndE-ValueType
Pfam:DUF2340 8 93 3.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112644
AA Change: D98V

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000108263
Gene: ENSMUSG00000026388
AA Change: D98V

DomainStartEndE-ValueType
Pfam:DUF2340 8 126 1.4e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128578
Predicted Effect probably benign
Transcript: ENSMUST00000153037
SMART Domains Protein: ENSMUSP00000115887
Gene: ENSMUSG00000026388

DomainStartEndE-ValueType
Pfam:DUF2340 1 61 1.6e-14 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf G A 11: 84,470,710 R356C possibly damaging Het
Abca15 A T 7: 120,382,746 T1095S probably benign Het
Abca9 A G 11: 110,120,773 F1148S probably benign Het
Adam12 G T 7: 133,967,848 D299E probably damaging Het
Alyref A T 11: 120,595,936 N166K possibly damaging Het
Atxn1 A T 13: 45,557,314 I714N probably benign Het
Bves A G 10: 45,354,806 E291G possibly damaging Het
Chrm2 A G 6: 36,523,757 N183S possibly damaging Het
Dennd2a T C 6: 39,480,309 H733R probably damaging Het
Erbb3 C T 10: 128,572,929 G762S possibly damaging Het
Gm29326 A C 7: 29,560,711 noncoding transcript Het
Gm9866 T A 12: 27,141,894 noncoding transcript Het
Itgb2l A T 16: 96,438,748 L17Q probably damaging Het
Jade1 T A 3: 41,613,502 D668E probably benign Het
Ksr1 G A 11: 79,036,583 T308I probably damaging Het
Mfap4 A G 11: 61,487,757 D177G probably damaging Het
Muc2 A T 7: 141,754,060 I369F probably damaging Het
Mut C T 17: 40,956,271 R579C probably damaging Het
Myh13 A T 11: 67,352,068 M936L probably benign Het
Nckap5 G T 1: 126,023,160 S1598Y probably damaging Het
Nlrp10 T A 7: 108,926,952 M60L probably benign Het
Nlrp12 T C 7: 3,235,160 N739S possibly damaging Het
Olfr482 A C 7: 108,095,486 V28G probably benign Het
Pappa A T 4: 65,156,034 H275L probably benign Het
Plekhm2 A G 4: 141,630,029 S711P probably damaging Het
Ptpn1 G A 2: 167,967,792 V107M probably damaging Het
Ptprf G A 4: 118,212,454 R1498C probably damaging Het
Rhobtb2 A G 14: 69,796,588 I396T possibly damaging Het
Ryr1 A G 7: 29,052,337 F3668S probably damaging Het
Serpinb6d T C 13: 33,671,363 V340A probably benign Het
Spaca3 G T 11: 80,867,684 V158L probably benign Het
Tdp1 A G 12: 99,891,380 N66S probably benign Het
Tmem132d A T 5: 128,269,206 I84N probably damaging Het
Uggt2 T A 14: 119,057,645 D523V probably damaging Het
Usp17la A T 7: 104,859,393 M1L probably benign Het
Yeats2 C T 16: 20,222,921 T1202I probably damaging Het
Other mutations in 3110009E18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00690:3110009E18Rik APN 1 120150606 unclassified probably benign
IGL00696:3110009E18Rik APN 1 120171426 missense probably damaging 0.98
IGL01996:3110009E18Rik APN 1 120150700 missense possibly damaging 0.94
R0033:3110009E18Rik UTSW 1 120188064 missense probably damaging 1.00
R0270:3110009E18Rik UTSW 1 120166176 splice site probably benign
R1025:3110009E18Rik UTSW 1 120171462 missense probably damaging 0.97
R1535:3110009E18Rik UTSW 1 120171473 missense possibly damaging 0.52
R4676:3110009E18Rik UTSW 1 120150652 missense probably damaging 1.00
R4955:3110009E18Rik UTSW 1 120169110 intron probably benign
R4955:3110009E18Rik UTSW 1 120169119 intron probably benign
R4955:3110009E18Rik UTSW 1 120169120 intron probably benign
R4956:3110009E18Rik UTSW 1 120169110 intron probably benign
R4956:3110009E18Rik UTSW 1 120169119 intron probably benign
R4956:3110009E18Rik UTSW 1 120169120 intron probably benign
R4957:3110009E18Rik UTSW 1 120169110 intron probably benign
R4957:3110009E18Rik UTSW 1 120169119 intron probably benign
R4957:3110009E18Rik UTSW 1 120169120 intron probably benign
R5866:3110009E18Rik UTSW 1 120169084 intron probably benign
R6151:3110009E18Rik UTSW 1 120171486 splice site probably null
R6229:3110009E18Rik UTSW 1 120171483 critical splice donor site probably null
Posted On2013-11-18