Incidental Mutation 'R1922:1600015I10Rik'
ID 213139
Institutional Source Beutler Lab
Gene Symbol 1600015I10Rik
Ensembl Gene ENSMUSG00000029813
Gene Name RIKEN cDNA 1600015I10 gene
Synonyms
MMRRC Submission 039940-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R1922 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 48929895-48933687 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 48931286 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 407 (I407L)
Ref Sequence ENSEMBL: ENSMUSP00000031837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031837]
AlphaFold E9Q745
Predicted Effect probably benign
Transcript: ENSMUST00000031837
AA Change: I407L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: I407L

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.1%
  • 10x: 95.8%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,319,924 (GRCm38) N574K probably benign Het
Adcy9 A T 16: 4,311,657 (GRCm38) L455H probably damaging Het
Alkbh2 C T 5: 114,124,226 (GRCm38) E148K probably damaging Het
Amy1 T A 3: 113,564,895 (GRCm38) I163F probably damaging Het
Armc5 A G 7: 128,240,505 (GRCm38) S332G probably benign Het
Brd4 T C 17: 32,198,086 (GRCm38) probably benign Het
Cadps T C 14: 12,465,859 (GRCm38) K1017R possibly damaging Het
Cfap45 A G 1: 172,545,112 (GRCm38) E458G probably damaging Het
Chrna1 A G 2: 73,568,232 (GRCm38) S288P probably damaging Het
Cpe T A 8: 64,617,689 (GRCm38) D174V probably benign Het
Dclre1c T C 2: 3,440,782 (GRCm38) F235L possibly damaging Het
Ddx20 A T 3: 105,678,584 (GRCm38) V815D probably damaging Het
Dhx9 T C 1: 153,460,274 (GRCm38) probably null Het
Dmxl2 A C 9: 54,401,523 (GRCm38) H1981Q probably benign Het
Doc2a A C 7: 126,851,431 (GRCm38) D293A probably damaging Het
Eif2a C T 3: 58,548,530 (GRCm38) R317C probably damaging Het
Fancc A G 13: 63,330,567 (GRCm38) V318A possibly damaging Het
Fes A T 7: 80,383,986 (GRCm38) Y172* probably null Het
Gipc3 T A 10: 81,338,215 (GRCm38) I242F probably damaging Het
Glul G A 1: 153,907,324 (GRCm38) M214I probably benign Het
Gm14496 A G 2: 182,001,004 (GRCm38) I823V probably benign Het
Gm6665 T C 18: 31,820,265 (GRCm38) N50S probably benign Het
Gm6729 T C 10: 86,540,918 (GRCm38) noncoding transcript Het
Gpr21 T A 2: 37,518,338 (GRCm38) C299S probably damaging Het
Hapln2 T A 3: 88,023,377 (GRCm38) N196Y probably benign Het
Hsd17b12 A G 2: 94,045,392 (GRCm38) V196A probably benign Het
Kalrn A T 16: 34,392,093 (GRCm38) D28E probably benign Het
Kansl1 A T 11: 104,343,640 (GRCm38) L680Q probably damaging Het
Kcna3 T C 3: 107,037,935 (GRCm38) S505P possibly damaging Het
Klra1 A C 6: 130,372,865 (GRCm38) N203K probably benign Het
L3mbtl2 T A 15: 81,675,621 (GRCm38) I236N probably damaging Het
Mcm3ap C A 10: 76,507,361 (GRCm38) P1696T probably damaging Het
Mecom T C 3: 29,957,442 (GRCm38) D647G probably damaging Het
Mn1 A G 5: 111,418,746 (GRCm38) D194G probably damaging Het
Muc5ac A G 7: 141,793,689 (GRCm38) N407S probably benign Het
Mx2 C T 16: 97,560,351 (GRCm38) R584C probably benign Het
Myo1c A G 11: 75,668,229 (GRCm38) R597G probably benign Het
Nav3 T C 10: 109,705,606 (GRCm38) D1932G probably benign Het
Nwd2 T A 5: 63,794,242 (GRCm38) D205E probably benign Het
Olfr1353 T A 10: 78,970,141 (GRCm38) L164* probably null Het
Olfr885 T C 9: 38,061,685 (GRCm38) Y122H probably damaging Het
Osmr T C 15: 6,844,367 (GRCm38) E183G possibly damaging Het
Peak1 A T 9: 56,206,687 (GRCm38) W627R probably damaging Het
Pkd1 C A 17: 24,595,157 (GRCm38) P4167Q probably damaging Het
Plekhg4 T A 8: 105,378,385 (GRCm38) L560Q probably damaging Het
Prg4 C T 1: 150,449,999 (GRCm38) W1217* probably null Het
Prkdc A G 16: 15,714,266 (GRCm38) I1465V probably benign Het
Pus1 A G 5: 110,777,639 (GRCm38) F105S probably damaging Het
Ranbp3l T C 15: 9,057,125 (GRCm38) S154P probably damaging Het
Rhbdl1 C T 17: 25,835,539 (GRCm38) G211S probably damaging Het
Rnf219 T C 14: 104,479,186 (GRCm38) K584E probably benign Het
Rrp36 C T 17: 46,672,745 (GRCm38) R47Q possibly damaging Het
Rtp1 T A 16: 23,431,410 (GRCm38) I175N probably damaging Het
Sash1 T A 10: 8,727,908 (GRCm38) N1127Y possibly damaging Het
Setbp1 C T 18: 78,858,362 (GRCm38) E697K possibly damaging Het
Slc27a3 A T 3: 90,386,317 (GRCm38) V587E probably benign Het
Slc38a2 A G 15: 96,691,162 (GRCm38) F454L possibly damaging Het
Sprn A T 7: 140,153,545 (GRCm38) probably benign Het
St14 A G 9: 31,089,870 (GRCm38) V855A possibly damaging Het
Syt10 C T 15: 89,790,776 (GRCm38) D456N probably damaging Het
Tbc1d1 A G 5: 64,311,221 (GRCm38) E732G probably damaging Het
Tnfaip3 A G 10: 19,003,607 (GRCm38) F671S possibly damaging Het
Tor1aip2 C A 1: 156,064,794 (GRCm38) P282Q probably damaging Het
Ttc7b C T 12: 100,415,130 (GRCm38) probably null Het
Ttll2 A T 17: 7,352,390 (GRCm38) F46Y probably damaging Het
Ttn A G 2: 76,734,150 (GRCm38) S28548P probably damaging Het
Tubb5 T C 17: 35,835,298 (GRCm38) Y340C probably benign Het
Usp32 A T 11: 85,007,004 (GRCm38) C1170* probably null Het
Usp54 G T 14: 20,560,904 (GRCm38) H1281Q probably benign Het
Vgll4 C T 6: 114,921,335 (GRCm38) G22S probably benign Het
Vmn2r120 T A 17: 57,524,839 (GRCm38) I317F probably benign Het
Zdhhc5 A T 2: 84,693,427 (GRCm38) F225Y probably damaging Het
Zfp652 A G 11: 95,764,025 (GRCm38) E418G possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- GGATTTTCTCCTTCCGGCTAAG -3'
(R):5'- TGAGATTGTCCGTAGCACCAG -3'

Sequencing Primer
(F):5'- CAGATCCTGAATGTGCACTTTCGG -3'
(R):5'- GTAGCACCAGCATGTGTCCATTTG -3'
Posted On 2014-07-14