Incidental Mutation 'IGL00905:D130040H23Rik'
ID 27990
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D130040H23Rik
Ensembl Gene ENSMUSG00000079038
Gene Name RIKEN cDNA D130040H23 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL00905
Quality Score
Status
Chromosome 8
Chromosomal Location 69723732-69766859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69753422 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BII3
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: 100,949,373 (GRCm39) E58G probably damaging Het
D630003M21Rik T C 2: 158,055,332 (GRCm39) T602A possibly damaging Het
Fam161b C T 12: 84,404,459 (GRCm39) V74I probably benign Het
Grk1 A G 8: 13,466,068 (GRCm39) E504G probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
L3mbtl3 C T 10: 26,189,744 (GRCm39) probably null Het
Map1s A G 8: 71,358,673 (GRCm39) probably benign Het
Mprip T C 11: 59,662,994 (GRCm39) V982A possibly damaging Het
Or5aq1b A G 2: 86,901,563 (GRCm39) I305T probably benign Het
Or8g19 T G 9: 39,056,326 (GRCm39) F310C probably damaging Het
Phf1 A T 17: 27,155,568 (GRCm39) R378W possibly damaging Het
Pramel25 A G 4: 143,521,844 (GRCm39) T487A probably benign Het
Ptpn3 A T 4: 57,270,050 (GRCm39) D37E possibly damaging Het
Rcbtb1 A G 14: 59,465,754 (GRCm39) S366G probably benign Het
Scn5a C A 9: 119,365,567 (GRCm39) W360L probably damaging Het
Scrib A G 15: 75,936,839 (GRCm39) F398S probably damaging Het
Slc25a47 C A 12: 108,821,314 (GRCm39) T141K probably benign Het
Slc9a1 T A 4: 133,097,859 (GRCm39) M2K probably benign Het
Tango6 G T 8: 107,469,104 (GRCm39) probably null Het
Tmem231 A T 8: 112,645,072 (GRCm39) probably benign Het
Tnr G A 1: 159,679,752 (GRCm39) R242Q probably benign Het
Usp5 G A 6: 124,792,576 (GRCm39) P821S probably damaging Het
Utp11 G T 4: 124,577,586 (GRCm39) P63Q probably damaging Het
Vmn1r6 T A 6: 56,979,789 (GRCm39) N128K probably damaging Het
Other mutations in D130040H23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0164:D130040H23Rik UTSW 8 69,755,195 (GRCm39) missense possibly damaging 0.61
R0164:D130040H23Rik UTSW 8 69,755,195 (GRCm39) missense possibly damaging 0.61
R0269:D130040H23Rik UTSW 8 69,753,446 (GRCm39) missense probably benign 0.00
R1534:D130040H23Rik UTSW 8 69,755,378 (GRCm39) missense possibly damaging 0.62
R1565:D130040H23Rik UTSW 8 69,755,812 (GRCm39) makesense probably null
R1648:D130040H23Rik UTSW 8 69,755,633 (GRCm39) missense probably benign 0.04
R1869:D130040H23Rik UTSW 8 69,755,354 (GRCm39) missense probably benign 0.22
R1870:D130040H23Rik UTSW 8 69,755,354 (GRCm39) missense probably benign 0.22
R1871:D130040H23Rik UTSW 8 69,755,354 (GRCm39) missense probably benign 0.22
R2025:D130040H23Rik UTSW 8 69,755,525 (GRCm39) missense probably benign 0.29
R3418:D130040H23Rik UTSW 8 69,755,579 (GRCm39) missense probably benign 0.27
R3810:D130040H23Rik UTSW 8 69,755,022 (GRCm39) missense probably damaging 1.00
R3896:D130040H23Rik UTSW 8 69,755,610 (GRCm39) missense probably damaging 1.00
R4477:D130040H23Rik UTSW 8 69,755,155 (GRCm39) missense possibly damaging 0.95
R4478:D130040H23Rik UTSW 8 69,755,155 (GRCm39) missense possibly damaging 0.95
R4479:D130040H23Rik UTSW 8 69,755,155 (GRCm39) missense possibly damaging 0.95
R4480:D130040H23Rik UTSW 8 69,755,155 (GRCm39) missense possibly damaging 0.95
R6849:D130040H23Rik UTSW 8 69,755,303 (GRCm39) nonsense probably null
R7121:D130040H23Rik UTSW 8 69,754,931 (GRCm39) missense probably damaging 0.99
R7821:D130040H23Rik UTSW 8 69,752,887 (GRCm39) splice site probably null
R8269:D130040H23Rik UTSW 8 69,755,800 (GRCm39) missense probably benign 0.00
R8747:D130040H23Rik UTSW 8 69,755,705 (GRCm39) missense probably benign 0.00
R8946:D130040H23Rik UTSW 8 69,755,033 (GRCm39) missense possibly damaging 0.70
R9095:D130040H23Rik UTSW 8 69,755,748 (GRCm39) frame shift probably null
R9776:D130040H23Rik UTSW 8 69,755,566 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17