Incidental Mutation 'IGL02882:D130052B06Rik'
ID362826
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D130052B06Rik
Ensembl Gene ENSMUSG00000073052
Gene NameRIKEN cDNA D130052B06 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #IGL02882
Quality Score
Status
Chromosome11
Chromosomal Location33599302-33625618 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 33623780 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 126 (V126M)
Ref Sequence ENSEMBL: ENSMUSP00000098922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101371]
Predicted Effect probably damaging
Transcript: ENSMUST00000101371
AA Change: V126M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098922
Gene: ENSMUSG00000073052
AA Change: V126M

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
low complexity region 20 28 N/A INTRINSIC
internal_repeat_2 36 101 5.51e-11 PROSPERO
internal_repeat_1 68 122 4.83e-23 PROSPERO
internal_repeat_2 99 175 5.51e-11 PROSPERO
internal_repeat_1 122 176 4.83e-23 PROSPERO
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A T 9: 44,277,489 L469* probably null Het
Calr3 T A 8: 72,434,821 Y46F probably damaging Het
Clcn4 A G 7: 7,290,465 C491R probably damaging Het
Col6a5 G T 9: 105,934,321 D666E unknown Het
Ddx27 A G 2: 167,027,913 I389M possibly damaging Het
Dgka T C 10: 128,733,384 I160V possibly damaging Het
E430018J23Rik A G 7: 127,392,252 Y188H probably damaging Het
Enpp6 T C 8: 47,030,532 S120P probably damaging Het
Ezh1 A G 11: 101,203,289 I459T probably benign Het
Fam91a1 A G 15: 58,453,061 probably benign Het
Foxn2 T C 17: 88,462,947 L74P probably damaging Het
Fscn2 T C 11: 120,362,499 V264A probably benign Het
Gmeb2 G A 2: 181,265,883 T54I probably damaging Het
Hmcn2 A T 2: 31,413,367 K3007* probably null Het
Ice1 A T 13: 70,624,474 probably benign Het
Lgi1 A G 19: 38,284,005 D84G probably benign Het
Mier2 T C 10: 79,547,721 I196V probably damaging Het
Nipal2 T C 15: 34,600,077 Y198C probably damaging Het
Npas2 A C 1: 39,312,996 S176R probably benign Het
Olfr914 A T 9: 38,606,938 I158F probably benign Het
Pam A C 1: 97,840,367 C713G probably damaging Het
Pcdh17 C A 14: 84,446,661 D189E probably damaging Het
Pcdhb8 T A 18: 37,356,223 I318N possibly damaging Het
Pcyt2 A G 11: 120,611,407 S300P possibly damaging Het
Pkdrej A G 15: 85,817,296 S1480P probably damaging Het
Plekhd1 G A 12: 80,719,007 probably null Het
Plxna2 A T 1: 194,762,570 S757C probably damaging Het
Prkdc A T 16: 15,651,519 K163* probably null Het
Serpina3f A T 12: 104,217,004 T42S probably damaging Het
Sesn2 T C 4: 132,493,793 N456D probably benign Het
Tas2r105 A T 6: 131,687,180 L95Q possibly damaging Het
Tln1 A G 4: 43,539,522 V1600A probably benign Het
Zfp808 A G 13: 62,173,180 K741R probably benign Het
Other mutations in D130052B06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:D130052B06Rik APN 11 33623558 missense possibly damaging 0.62
IGL00508:D130052B06Rik APN 11 33599402 missense unknown
IGL01152:D130052B06Rik APN 11 33623620 splice site probably null
IGL01744:D130052B06Rik APN 11 33623966 missense unknown
IGL02829:D130052B06Rik APN 11 33623864 missense probably benign 0.16
R0396:D130052B06Rik UTSW 11 33623391 missense unknown
R0571:D130052B06Rik UTSW 11 33623922 missense probably benign 0.00
R1467:D130052B06Rik UTSW 11 33623622 splice site probably benign
R1706:D130052B06Rik UTSW 11 33616230 missense unknown
R1733:D130052B06Rik UTSW 11 33623784 missense probably benign 0.16
R6029:D130052B06Rik UTSW 11 33623477 missense possibly damaging 0.62
R6045:D130052B06Rik UTSW 11 33624008 missense unknown
R6269:D130052B06Rik UTSW 11 33623916 missense possibly damaging 0.92
R7238:D130052B06Rik UTSW 11 33623594 missense probably benign 0.01
R7240:D130052B06Rik UTSW 11 33623874 missense possibly damaging 0.79
R7305:D130052B06Rik UTSW 11 33623355 frame shift probably null
R8095:D130052B06Rik UTSW 11 33623489 small deletion probably benign
Posted On2015-12-18