Incidental Mutation 'R8839:1600015I10Rik'
ID 674314
Institutional Source Beutler Lab
Gene Symbol 1600015I10Rik
Ensembl Gene ENSMUSG00000029813
Gene Name RIKEN cDNA 1600015I10 gene
Synonyms
MMRRC Submission 068667-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # R8839 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 48929895-48933687 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48931040 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 325 (Y325H)
Ref Sequence ENSEMBL: ENSMUSP00000031837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031837]
AlphaFold E9Q745
Predicted Effect probably damaging
Transcript: ENSMUST00000031837
AA Change: Y325H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: Y325H

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Cu_amine_oxidN2 50 136 1.7e-25 PFAM
Pfam:Cu_amine_oxidN3 152 252 3.5e-16 PFAM
Pfam:Cu_amine_oxid 306 708 7.1e-94 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 T C 11: 105,998,368 (GRCm38) Y475H probably damaging Het
Ankfy1 T C 11: 72,730,566 (GRCm38) I226T probably benign Het
Anln G A 9: 22,356,172 (GRCm38) S825L probably benign Het
Arb2a A T 13: 77,999,662 (GRCm38) H283L probably benign Het
B3galt4 A G 17: 33,950,893 (GRCm38) S124P possibly damaging Het
Cabin1 T C 10: 75,656,816 (GRCm38) I1882V probably benign Het
Caprin2 A T 6: 148,873,027 (GRCm38) S262R probably benign Het
Csmd2 A C 4: 128,442,888 (GRCm38) I1420L Het
Cyp2b9 T G 7: 26,200,760 (GRCm38) V331G probably damaging Het
Cyp3a59 A T 5: 146,109,086 (GRCm38) M433L probably benign Het
Edrf1 A G 7: 133,653,915 (GRCm38) D597G probably benign Het
Emc3 G A 6: 113,519,970 (GRCm38) R147C possibly damaging Het
Fkbp7 T C 2: 76,667,237 (GRCm38) probably benign Het
Flii T C 11: 60,718,607 (GRCm38) T665A possibly damaging Het
Fxr1 A G 3: 34,046,682 (GRCm38) probably benign Het
Gpr37 T G 6: 25,669,370 (GRCm38) I492L probably benign Het
Hmg20b A C 10: 81,348,915 (GRCm38) W108G probably damaging Het
Ighv9-3 G A 12: 114,140,765 (GRCm38) T93I possibly damaging Het
Inpp5a T C 7: 139,389,433 (GRCm38) V15A probably benign Het
Inpp5d T A 1: 87,691,711 (GRCm38) Y376N probably damaging Het
Ints6 A G 14: 62,693,673 (GRCm38) F854L probably benign Het
Ipo7 A T 7: 110,042,016 (GRCm38) K314N probably damaging Het
Ltn1 C A 16: 87,418,502 (GRCm38) C415F probably damaging Het
Mfsd9 T C 1: 40,774,394 (GRCm38) T254A probably benign Het
Musk A G 4: 58,286,151 (GRCm38) T14A probably benign Het
Ncapd3 T C 9: 27,094,434 (GRCm38) V1438A Het
Nnt A T 13: 119,357,637 (GRCm38) V636D unknown Het
Or10ak14 A G 4: 118,754,214 (GRCm38) L110P probably damaging Het
Or11h23 A T 14: 50,710,500 (GRCm38) T57S possibly damaging Het
Or52ae9 A G 7: 103,740,814 (GRCm38) I142T probably benign Het
Ost4 T C 5: 30,907,591 (GRCm38) probably benign Het
Pdzph1 T C 17: 58,950,242 (GRCm38) T934A probably benign Het
Plekhn1 T A 4: 156,222,589 (GRCm38) probably benign Het
Prkd1 T C 12: 50,342,833 (GRCm38) probably benign Het
Ptch1 A T 13: 63,541,224 (GRCm38) L413Q probably damaging Het
S100pbp A G 4: 129,182,207 (GRCm38) probably null Het
Sec23a T C 12: 58,990,995 (GRCm38) K361E possibly damaging Het
Sema3b C T 9: 107,601,353 (GRCm38) probably benign Het
Serpina3g A G 12: 104,237,779 (GRCm38) probably benign Het
Slc23a2 C T 2: 132,101,472 (GRCm38) silent Het
Smug1 T C 15: 103,155,820 (GRCm38) R225G possibly damaging Het
Srbd1 T A 17: 85,988,421 (GRCm38) I854L probably benign Het
Tbc1d16 G A 11: 119,156,648 (GRCm38) R417C probably damaging Het
Tiam1 A G 16: 89,884,939 (GRCm38) Y384H probably damaging Het
Trappc9 T A 15: 73,058,238 (GRCm38) K90* probably null Het
Tubgcp6 A T 15: 89,103,478 (GRCm38) H1097Q possibly damaging Het
Ugt2b37 A G 5: 87,254,556 (GRCm38) L72P probably damaging Het
Vmn2r20 A T 6: 123,396,556 (GRCm38) H442Q possibly damaging Het
Vmn2r65 A T 7: 84,946,281 (GRCm38) Y398* probably null Het
Zfhx4 A G 3: 5,401,855 (GRCm38) T2383A probably benign Het
Other mutations in 1600015I10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:1600015I10Rik APN 6 48,931,040 (GRCm38) missense probably damaging 1.00
IGL01347:1600015I10Rik APN 6 48,932,543 (GRCm38) missense probably benign 0.02
IGL01751:1600015I10Rik APN 6 48,930,588 (GRCm38) missense possibly damaging 0.79
IGL01915:1600015I10Rik APN 6 48,931,648 (GRCm38) missense probably damaging 1.00
IGL02669:1600015I10Rik APN 6 48,931,473 (GRCm38) missense probably damaging 1.00
IGL03033:1600015I10Rik APN 6 48,932,518 (GRCm38) missense probably benign 0.00
IGL03242:1600015I10Rik APN 6 48,932,545 (GRCm38) missense possibly damaging 0.68
R0096:1600015I10Rik UTSW 6 48,931,188 (GRCm38) missense probably damaging 1.00
R0096:1600015I10Rik UTSW 6 48,931,188 (GRCm38) missense probably damaging 1.00
R0448:1600015I10Rik UTSW 6 48,933,057 (GRCm38) missense probably damaging 1.00
R1488:1600015I10Rik UTSW 6 48,933,447 (GRCm38) missense possibly damaging 0.91
R1498:1600015I10Rik UTSW 6 48,931,371 (GRCm38) missense probably benign 0.00
R1520:1600015I10Rik UTSW 6 48,931,297 (GRCm38) nonsense probably null
R1922:1600015I10Rik UTSW 6 48,931,286 (GRCm38) missense probably benign 0.00
R1992:1600015I10Rik UTSW 6 48,930,769 (GRCm38) missense probably damaging 1.00
R1997:1600015I10Rik UTSW 6 48,932,429 (GRCm38) missense probably damaging 0.98
R2021:1600015I10Rik UTSW 6 48,931,451 (GRCm38) missense probably damaging 1.00
R3771:1600015I10Rik UTSW 6 48,931,196 (GRCm38) missense probably damaging 1.00
R4208:1600015I10Rik UTSW 6 48,931,647 (GRCm38) missense probably damaging 1.00
R4790:1600015I10Rik UTSW 6 48,930,552 (GRCm38) missense probably damaging 0.99
R5114:1600015I10Rik UTSW 6 48,931,358 (GRCm38) missense probably benign 0.02
R5610:1600015I10Rik UTSW 6 48,931,019 (GRCm38) missense probably benign 0.00
R5823:1600015I10Rik UTSW 6 48,930,552 (GRCm38) missense probably damaging 0.99
R5847:1600015I10Rik UTSW 6 48,933,478 (GRCm38) missense probably damaging 1.00
R6233:1600015I10Rik UTSW 6 48,930,965 (GRCm38) missense probably benign
R6357:1600015I10Rik UTSW 6 48,930,974 (GRCm38) missense probably benign 0.00
R6694:1600015I10Rik UTSW 6 48,930,546 (GRCm38) missense probably benign 0.21
R6733:1600015I10Rik UTSW 6 48,930,530 (GRCm38) missense probably damaging 1.00
R6894:1600015I10Rik UTSW 6 48,930,662 (GRCm38) missense probably damaging 1.00
R6898:1600015I10Rik UTSW 6 48,931,041 (GRCm38) missense probably damaging 0.97
R6916:1600015I10Rik UTSW 6 48,931,053 (GRCm38) missense probably benign 0.01
R7242:1600015I10Rik UTSW 6 48,931,128 (GRCm38) missense probably damaging 1.00
R7762:1600015I10Rik UTSW 6 48,932,686 (GRCm38) missense probably benign 0.07
R8257:1600015I10Rik UTSW 6 48,932,497 (GRCm38) missense probably benign 0.04
R8391:1600015I10Rik UTSW 6 48,932,668 (GRCm38) missense probably damaging 0.96
R8863:1600015I10Rik UTSW 6 48,930,108 (GRCm38) missense probably benign 0.00
R9266:1600015I10Rik UTSW 6 48,930,237 (GRCm38) missense probably benign 0.00
R9274:1600015I10Rik UTSW 6 48,930,407 (GRCm38) missense possibly damaging 0.94
R9380:1600015I10Rik UTSW 6 48,933,130 (GRCm38) missense probably damaging 1.00
R9382:1600015I10Rik UTSW 6 48,930,364 (GRCm38) missense probably benign 0.08
R9562:1600015I10Rik UTSW 6 48,930,975 (GRCm38) missense probably benign 0.01
R9565:1600015I10Rik UTSW 6 48,930,975 (GRCm38) missense probably benign 0.01
R9703:1600015I10Rik UTSW 6 48,932,695 (GRCm38) missense probably benign 0.01
R9781:1600015I10Rik UTSW 6 48,930,726 (GRCm38) missense possibly damaging 0.58
X0062:1600015I10Rik UTSW 6 48,933,132 (GRCm38) missense possibly damaging 0.55
Z1176:1600015I10Rik UTSW 6 48,932,468 (GRCm38) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- TGGTATAACGGCAAGCTCTAC -3'
(R):5'- CCCACATCCATGTACTTGGC -3'

Sequencing Primer
(F):5'- CTGGCTCAGAAATACGCAGATG -3'
(R):5'- ACATCCATGTACTTGGCCTGAGTG -3'
Posted On 2021-07-15