Incidental Mutation 'IGL00905:D130040H23Rik'
ID27990
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D130040H23Rik
Ensembl Gene ENSMUSG00000079038
Gene NameRIKEN cDNA D130040H23 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #IGL00905
Quality Score
Status
Chromosome8
Chromosomal Location69271080-69314207 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 69300770 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Isoleucine at position 16 (K16I)
Ref Sequence ENSEMBL: ENSMUSP00000148399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078257] [ENSMUST00000212549]
Predicted Effect probably benign
Transcript: ENSMUST00000078257
SMART Domains Protein: ENSMUSP00000077378
Gene: ENSMUSG00000079038

DomainStartEndE-ValueType
internal_repeat_1 2 170 4.27e-17 PROSPERO
internal_repeat_1 199 366 4.27e-17 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212443
Predicted Effect possibly damaging
Transcript: ENSMUST00000212549
AA Change: K16I

PolyPhen 2 Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 T C 7: 101,300,166 E58G probably damaging Het
D630003M21Rik T C 2: 158,213,412 T602A possibly damaging Het
Fam161b C T 12: 84,357,685 V74I probably benign Het
Gm13023 A G 4: 143,795,274 T487A probably benign Het
Grk1 A G 8: 13,416,068 E504G probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
L3mbtl3 C T 10: 26,313,846 probably null Het
Map1s A G 8: 70,906,029 probably benign Het
Mprip T C 11: 59,772,168 V982A possibly damaging Het
Olfr1107 A G 2: 87,071,219 I305T probably benign Het
Olfr27 T G 9: 39,145,030 F310C probably damaging Het
Phf1 A T 17: 26,936,594 R378W possibly damaging Het
Ptpn3 A T 4: 57,270,050 D37E possibly damaging Het
Rcbtb1 A G 14: 59,228,305 S366G probably benign Het
Scn5a C A 9: 119,536,501 W360L probably damaging Het
Scrib A G 15: 76,064,990 F398S probably damaging Het
Slc25a47 C A 12: 108,855,388 T141K probably benign Het
Slc9a1 T A 4: 133,370,548 M2K probably benign Het
Tango6 G T 8: 106,742,472 probably null Het
Tmem231 A T 8: 111,918,440 probably benign Het
Tnr G A 1: 159,852,182 R242Q probably benign Het
Usp5 G A 6: 124,815,613 P821S probably damaging Het
Utp11 G T 4: 124,683,793 P63Q probably damaging Het
Vmn1r6 T A 6: 57,002,804 N128K probably damaging Het
Other mutations in D130040H23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0164:D130040H23Rik UTSW 8 69302543 missense possibly damaging 0.61
R0164:D130040H23Rik UTSW 8 69302543 missense possibly damaging 0.61
R0269:D130040H23Rik UTSW 8 69300794 missense probably benign 0.00
R1534:D130040H23Rik UTSW 8 69302726 missense possibly damaging 0.62
R1565:D130040H23Rik UTSW 8 69303160 makesense probably null
R1648:D130040H23Rik UTSW 8 69302981 missense probably benign 0.04
R1869:D130040H23Rik UTSW 8 69302702 missense probably benign 0.22
R1870:D130040H23Rik UTSW 8 69302702 missense probably benign 0.22
R1871:D130040H23Rik UTSW 8 69302702 missense probably benign 0.22
R2025:D130040H23Rik UTSW 8 69302873 missense probably benign 0.29
R3418:D130040H23Rik UTSW 8 69302927 missense probably benign 0.27
R3810:D130040H23Rik UTSW 8 69302370 missense probably damaging 1.00
R3896:D130040H23Rik UTSW 8 69302958 missense probably damaging 1.00
R4477:D130040H23Rik UTSW 8 69302503 missense possibly damaging 0.95
R4478:D130040H23Rik UTSW 8 69302503 missense possibly damaging 0.95
R4479:D130040H23Rik UTSW 8 69302503 missense possibly damaging 0.95
R4480:D130040H23Rik UTSW 8 69302503 missense possibly damaging 0.95
R6849:D130040H23Rik UTSW 8 69302651 nonsense probably null
R7121:D130040H23Rik UTSW 8 69302279 missense probably damaging 0.99
R7821:D130040H23Rik UTSW 8 69300235 intron probably null
R8269:D130040H23Rik UTSW 8 69303148 missense probably benign 0.00
Posted On2013-04-17