Incidental Mutation 'IGL01996:3110009E18Rik'
ID182896
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: 0.075) question?
Stock #IGL01996
Quality Score
Status
Chromosome1
Chromosomal Location120121187-120188189 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120150700 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 29 (V29A)
Ref Sequence ENSEMBL: ENSMUSP00000108263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027637] [ENSMUST00000056038] [ENSMUST00000112644]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027637
AA Change: V29A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027637
Gene: ENSMUSG00000026388
AA Change: V29A

DomainStartEndE-ValueType
Pfam:DUF2340 8 93 3.7e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000056038
AA Change: V29A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000053335
Gene: ENSMUSG00000026388
AA Change: V29A

DomainStartEndE-ValueType
Pfam:DUF2340 8 93 3.7e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112644
AA Change: V29A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108263
Gene: ENSMUSG00000026388
AA Change: V29A

DomainStartEndE-ValueType
Pfam:DUF2340 8 126 1.4e-43 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000153037
AA Change: V10A
SMART Domains Protein: ENSMUSP00000115887
Gene: ENSMUSG00000026388
AA Change: V10A

DomainStartEndE-ValueType
Pfam:DUF2340 1 61 1.6e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187809
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A G 10: 77,322,217 L132P probably damaging Het
Afg3l1 T G 8: 123,501,894 M733R probably damaging Het
Aox1 C T 1: 58,082,066 R899C probably benign Het
Arhgap44 T A 11: 65,005,496 probably benign Het
Asns T C 6: 7,682,378 D189G possibly damaging Het
Brap A G 5: 121,678,847 probably benign Het
Ccdc138 T A 10: 58,562,030 L564H probably damaging Het
Ccdc167 A G 17: 29,705,487 probably null Het
Ccdc178 A G 18: 22,097,756 Y353H probably damaging Het
Clca3b A T 3: 144,849,163 S41R probably benign Het
Dpep3 T C 8: 105,974,726 N397S probably damaging Het
Eif1 T C 11: 100,321,000 I83T probably benign Het
Enah A T 1: 181,956,505 W80R unknown Het
F2rl1 C T 13: 95,513,924 C150Y probably damaging Het
Fbxw24 T C 9: 109,605,372 R387G possibly damaging Het
Fsd1l A G 4: 53,647,760 T68A probably benign Het
Greb1 T C 12: 16,690,845 K1412R possibly damaging Het
Grin2b T C 6: 135,732,586 S1321G probably damaging Het
Hist1h4j G A 13: 21,735,138 G15S unknown Het
Itgb7 C T 15: 102,217,977 G508D probably damaging Het
Kcnq3 A G 15: 66,023,696 I333T probably damaging Het
Knl1 A G 2: 119,104,061 D2115G probably damaging Het
Lmtk3 G A 7: 45,793,447 probably null Het
Lrpprc A G 17: 84,773,270 Y176H probably benign Het
Mier1 T C 4: 103,127,276 S22P possibly damaging Het
Mme A T 3: 63,343,549 N337I probably benign Het
Mthfd1 A G 12: 76,303,905 Y687C probably damaging Het
Nrp2 T C 1: 62,749,260 M373T probably damaging Het
Nudcd1 A T 15: 44,405,961 F101Y probably benign Het
Nup133 T A 8: 123,946,595 I66L probably benign Het
Olfr1406 T C 1: 173,183,727 T236A probably benign Het
Olfr378 T A 11: 73,425,968 N5I probably damaging Het
Olfr736 T G 14: 50,393,659 M301R probably damaging Het
Osbpl5 A G 7: 143,707,344 probably null Het
Paqr8 T C 1: 20,935,404 F261L probably damaging Het
Plxna2 A G 1: 194,799,776 E1452G probably damaging Het
Polh T C 17: 46,173,001 D446G probably benign Het
Psg19 A T 7: 18,790,061 M353K possibly damaging Het
Sap25 T C 5: 137,641,818 probably null Het
Sap30l C T 11: 57,809,951 R144* probably null Het
Sema6b C T 17: 56,131,157 V144M probably damaging Het
Sfmbt2 T C 2: 10,440,026 Y228H probably benign Het
Shank2 A G 7: 144,411,493 D946G probably damaging Het
Slc11a1 T A 1: 74,376,806 L52Q possibly damaging Het
Sptlc3 T C 2: 139,581,504 probably benign Het
Tgfb1i1 T C 7: 128,249,292 probably benign Het
Tifa T C 3: 127,796,580 probably benign Het
Tomm40l C T 1: 171,219,655 V265M possibly damaging Het
Trim45 C A 3: 100,928,109 Y469* probably null Het
Ttc21a G T 9: 119,958,116 A730S probably damaging Het
Vmn1r18 A T 6: 57,390,016 D184E possibly damaging Het
Vmn2r120 A T 17: 57,525,222 I189N possibly 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
IGL01482:3110009E18Rik APN 1 120171471 missense probably benign 0.16
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 On2014-05-07