Incidental Mutation 'R0096:1600015I10Rik'
ID 17077
Institutional Source Beutler Lab
Gene Symbol 1600015I10Rik
Ensembl Gene ENSMUSG00000029813
Gene Name RIKEN cDNA 1600015I10 gene
Synonyms
MMRRC Submission 038382-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R0096 (G1)
Quality Score
Status Validated
Chromosome 6
Chromosomal Location 48929895-48933687 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 48931188 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 374 (Q374P)
Ref Sequence ENSEMBL: ENSMUSP00000031837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031837]
AlphaFold E9Q745
Predicted Effect probably damaging
Transcript: ENSMUST00000031837
AA Change: Q374P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: Q374P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158710
Meta Mutation Damage Score 0.1687 question?
Coding Region Coverage
  • 1x: 90.0%
  • 3x: 87.5%
  • 10x: 81.4%
  • 20x: 72.0%
Validation Efficiency 89% (76/85)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A T 8: 105,708,931 (GRCm38) probably null Het
AC132131.1 T C 10: 90,074,062 (GRCm38) S48P possibly damaging Het
Adamts3 G A 5: 89,701,717 (GRCm38) Q615* probably null Het
Adamtsl3 T A 7: 82,465,699 (GRCm38) probably benign Het
Arhgap42 G T 9: 9,009,313 (GRCm38) N524K probably damaging Het
Arhgef28 T G 13: 97,931,254 (GRCm38) T1388P probably damaging Het
Arid4b T C 13: 14,129,194 (GRCm38) V68A probably benign Het
Bard1 A T 1: 71,053,730 (GRCm38) probably benign Het
BC005537 T C 13: 24,805,940 (GRCm38) F129L probably damaging Het
Capn3 A T 2: 120,502,529 (GRCm38) H592L possibly damaging Het
Ccdc105 T A 10: 78,748,705 (GRCm38) I328L probably benign Het
Cilp A G 9: 65,273,670 (GRCm38) T256A possibly damaging Het
Cpne8 T A 15: 90,499,915 (GRCm38) I481L probably benign Het
Dglucy A T 12: 100,838,651 (GRCm38) I134F possibly damaging Het
Dnaic2 A C 11: 114,754,332 (GRCm38) D531A probably benign Het
Dthd1 A T 5: 62,843,040 (GRCm38) R568S possibly damaging Het
Efr3a A G 15: 65,855,441 (GRCm38) N613S probably damaging Het
Ermp1 A G 19: 29,631,388 (GRCm38) Y164H possibly damaging Het
Fbrs C T 7: 127,489,487 (GRCm38) A145V probably damaging Het
Gm9873 A T 2: 169,021,109 (GRCm38) noncoding transcript Het
Grik1 T C 16: 88,034,226 (GRCm38) M219V possibly damaging Het
Gucy1a2 A T 9: 3,758,928 (GRCm38) probably benign Het
Itih5 G A 2: 10,251,378 (GRCm38) R885Q probably benign Het
Kat2a A T 11: 100,706,471 (GRCm38) V625E probably damaging Het
Kdm4c A G 4: 74,357,343 (GRCm38) E752G probably damaging Het
Ksr1 A G 11: 79,038,247 (GRCm38) probably benign Het
Lama1 T A 17: 67,805,413 (GRCm38) F2283I probably benign Het
Luc7l3 A G 11: 94,301,494 (GRCm38) probably benign Het
Map1a A G 2: 121,301,505 (GRCm38) E696G probably damaging Het
Mrps34 A G 17: 24,895,669 (GRCm38) D110G probably damaging Het
Myh11 T A 16: 14,204,367 (GRCm38) K1710M possibly damaging Het
Myo1d A G 11: 80,484,332 (GRCm38) L972P probably damaging Het
Nol4 T G 18: 22,921,858 (GRCm38) T58P possibly damaging Het
Nos1ap T C 1: 170,329,247 (GRCm38) D214G probably damaging Het
Olfr1224-ps1 A T 2: 89,156,296 (GRCm38) M293K probably benign Het
Pde4dip A C 3: 97,767,467 (GRCm38) D44E probably damaging Het
Pip4k2a G A 2: 18,889,039 (GRCm38) probably benign Het
Prmt8 T A 6: 127,732,627 (GRCm38) probably benign Het
Pygl A T 12: 70,191,166 (GRCm38) probably benign Het
Ralgapa1 T C 12: 55,739,505 (GRCm38) D643G probably damaging Het
Sdk2 A G 11: 113,903,144 (GRCm38) probably benign Het
Skint5 A T 4: 113,597,768 (GRCm38) probably benign Het
Slc27a6 T C 18: 58,598,757 (GRCm38) probably benign Het
Spata46 C T 1: 170,312,034 (GRCm38) Q201* probably null Het
Sptbn1 A T 11: 30,114,739 (GRCm38) V1920E probably damaging Het
Sycp2 G T 2: 178,403,735 (GRCm38) Q31K probably damaging Het
Taf6l A G 19: 8,778,517 (GRCm38) F256L probably benign Het
Trf A G 9: 103,222,159 (GRCm38) F300L probably damaging Het
Vmn2r105 A G 17: 20,227,479 (GRCm38) F361S possibly damaging Het
Vmn2r79 A G 7: 87,037,319 (GRCm38) Y636C probably damaging Het
Wdr59 T C 8: 111,504,373 (GRCm38) N68D probably damaging 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
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
R8839:1600015I10Rik UTSW 6 48,931,040 (GRCm38) missense probably damaging 1.00
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
Posted On 2013-01-20