Incidental Mutation 'IGL00508:D130052B06Rik'
ID332527
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: 0.096) question?
Stock #IGL00508
Quality Score
Status
Chromosome11
Chromosomal Location33599302-33625618 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 33599402 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 7 (E7G)
Ref Sequence ENSEMBL: ENSMUSP00000098922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101371]
Predicted Effect unknown
Transcript: ENSMUST00000101371
AA Change: E7G
SMART Domains Protein: ENSMUSP00000098922
Gene: ENSMUSG00000073052
AA Change: E7G

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A C 13: 81,506,187 D2188E probably damaging Het
Atrx A G X: 105,823,799 S2026P probably damaging Het
Cacna1b A C 2: 24,657,289 probably null Het
Cfap46 C T 7: 139,660,689 S56N probably damaging Het
Cfap57 C T 4: 118,581,170 probably null Het
Ckap5 T G 2: 91,606,256 V1567G probably damaging Het
Cyp2c38 A T 19: 39,460,725 Y61* probably null Het
Dhx38 A G 8: 109,556,934 L527P possibly damaging Het
Dnaaf5 A G 5: 139,177,946 N653D probably benign Het
Dnah8 T G 17: 30,855,930 M4541R probably damaging Het
Dpyd A T 3: 119,064,987 T617S probably benign Het
Fpr2 A T 17: 17,892,772 N10I probably damaging Het
Frmd4a A T 2: 4,594,734 K524* probably null Het
Gpr45 C T 1: 43,032,292 P32S possibly damaging Het
H2-Eb2 A T 17: 34,334,367 I176F probably damaging Het
Hcrtr1 T A 4: 130,137,269 N74I probably damaging Het
Ifi47 C T 11: 49,095,414 Q3* probably null Het
Krt8 T A 15: 101,998,025 M350L probably benign Het
Lilra6 A G 7: 3,911,554 S533P probably benign Het
Map1b A T 13: 99,429,233 S2327T unknown Het
Mcoln3 T A 3: 146,133,928 I345N probably damaging Het
Mettl3 C A 14: 52,294,979 probably benign Het
Mgat4a G A 1: 37,449,123 R472* probably null Het
Micall1 A G 15: 79,130,568 K715E probably damaging Het
Pak1 G T 7: 97,854,568 G37C probably benign Het
Pomt2 T G 12: 87,119,627 H426P probably damaging Het
Pou2f3 G A 9: 43,139,963 P155S probably benign Het
Psg25 A G 7: 18,529,731 Y56H probably benign Het
Rab9 G T X: 166,457,864 Y150* probably null Het
Rhox2g T A X: 37,642,810 N152I probably damaging Het
Sema6d T C 2: 124,656,924 probably benign Het
Simc1 C A 13: 54,525,176 Q446K probably benign Het
Svs2 G T 2: 164,237,042 T315K possibly damaging Het
Syt9 C T 7: 107,425,367 R156* probably null Het
Tmem260 A T 14: 48,509,121 Y618F probably damaging Het
Wdr44 A G X: 23,800,544 I719V possibly damaging Het
Zfp518a T G 19: 40,913,470 I614M probably damaging Het
Other mutations in D130052B06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:D130052B06Rik APN 11 33623558 missense possibly damaging 0.62
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
IGL02882:D130052B06Rik APN 11 33623780 missense probably damaging 0.99
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
Posted On2015-08-05