Incidental Mutation 'R6850:Ranbp3l'
ID 535617
Institutional Source Beutler Lab
Gene Symbol Ranbp3l
Ensembl Gene ENSMUSG00000048424
Gene Name RAN binding protein 3-like
Synonyms C130037N17Rik
MMRRC Submission 044954-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R6850 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 8997433-9067417 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 9058808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 216 (D216E)
Ref Sequence ENSEMBL: ENSMUSP00000154327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053308] [ENSMUST00000227191]
AlphaFold Q6PDH4
Predicted Effect probably damaging
Transcript: ENSMUST00000053308
AA Change: D352E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055750
Gene: ENSMUSG00000048424
AA Change: D352E

DomainStartEndE-ValueType
low complexity region 19 31 N/A INTRINSIC
low complexity region 118 129 N/A INTRINSIC
low complexity region 191 197 N/A INTRINSIC
RanBD 302 430 4.52e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000227191
AA Change: D216E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,270,318 (GRCm39) M927V probably benign Het
Agr2 A G 12: 36,045,558 (GRCm39) I15V probably benign Het
Alpk1 A G 3: 127,523,012 (GRCm39) I10T possibly damaging Het
Art5 A G 7: 101,747,302 (GRCm39) V159A possibly damaging Het
Asz1 G A 6: 18,108,942 (GRCm39) R32W probably benign Het
Atp8b1 A C 18: 64,689,923 (GRCm39) M603R possibly damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Car9 A G 4: 43,507,321 (GRCm39) E3G probably damaging Het
Cpne3 A T 4: 19,535,231 (GRCm39) I267N possibly damaging Het
Cyp2c65 T A 19: 39,057,535 (GRCm39) F57I probably benign Het
D430041D05Rik T C 2: 104,031,604 (GRCm39) K980R probably damaging Het
Dnhd1 G T 7: 105,369,137 (GRCm39) G4303W possibly damaging Het
Dnmt3a A G 12: 3,947,600 (GRCm39) N485D probably benign Het
Dusp4 A T 8: 35,283,651 (GRCm39) K166* probably null Het
Ect2 T C 3: 27,193,034 (GRCm39) D344G probably damaging Het
Eif2b1 T C 5: 124,717,069 (GRCm39) D3G probably benign Het
Ermp1 A G 19: 29,594,041 (GRCm39) Y710H probably damaging Het
Gar1 T C 3: 129,623,038 (GRCm39) N117S probably damaging Het
H2-T10 A G 17: 36,430,152 (GRCm39) L263P probably damaging Het
Iqcn A T 8: 71,163,425 (GRCm39) N873Y probably damaging Het
Itga7 A T 10: 128,781,385 (GRCm39) I621F probably damaging Het
Kcna3 A T 3: 106,944,475 (GRCm39) D246V probably damaging Het
Kctd12 C T 14: 103,219,414 (GRCm39) G155S probably benign Het
Lrtm1 T C 14: 28,749,407 (GRCm39) V256A probably benign Het
Mcf2l T C 8: 13,059,476 (GRCm39) F629L possibly damaging Het
Mphosph9 A G 5: 124,399,019 (GRCm39) F999L probably damaging Het
Mtres1 ACTGCACCACCT ACT 10: 43,408,721 (GRCm39) probably benign Het
Obscn C T 11: 58,958,950 (GRCm39) V3643M possibly damaging Het
Obscn C T 11: 58,892,955 (GRCm39) A6764T possibly damaging Het
Or4c102 T A 2: 88,422,650 (GRCm39) C167* probably null Het
Or8g18 T C 9: 39,149,271 (GRCm39) I150V probably benign Het
Pdhx T C 2: 102,871,445 (GRCm39) H195R probably damaging Het
Pdilt A T 7: 119,086,182 (GRCm39) V511E probably damaging Het
Prima1 C T 12: 103,163,594 (GRCm39) D126N probably benign Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Prune2 C A 19: 17,099,552 (GRCm39) D1685E probably benign Het
Ptgs2 A T 1: 149,981,291 (GRCm39) I525F probably damaging Het
Rab11fip2 A T 19: 59,925,441 (GRCm39) F259I possibly damaging Het
Scn5a A T 9: 119,330,815 (GRCm39) L1240Q possibly damaging Het
Sohlh2 A T 3: 55,099,707 (GRCm39) T160S probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spata31h1 A C 10: 82,128,888 (GRCm39) M1374R possibly damaging Het
Tank A G 2: 61,480,346 (GRCm39) E294G probably benign Het
Tars1 T A 15: 11,392,885 (GRCm39) Y187F probably benign Het
Tas2r144 T A 6: 42,192,857 (GRCm39) M199K possibly damaging Het
Tdrd3 T C 14: 87,695,515 (GRCm39) probably benign Het
Tecta T A 9: 42,255,134 (GRCm39) D1683V probably benign Het
Tln2 A G 9: 67,165,817 (GRCm39) I2098T probably damaging Het
Tmie A G 9: 110,695,980 (GRCm39) I137T possibly damaging Het
Trim45 T A 3: 100,830,541 (GRCm39) L105* probably null Het
Trpv3 G A 11: 73,182,519 (GRCm39) G568S probably damaging Het
Wdr75 A G 1: 45,853,758 (GRCm39) T390A probably benign Het
Wdr97 A G 15: 76,241,996 (GRCm39) Y763C probably damaging Het
Zfp35 G A 18: 24,135,839 (GRCm39) R61H possibly damaging Het
Other mutations in Ranbp3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01746:Ranbp3l APN 15 9,063,167 (GRCm39) nonsense probably null
IGL01982:Ranbp3l APN 15 9,058,827 (GRCm39) missense probably damaging 0.99
IGL02549:Ranbp3l APN 15 8,997,925 (GRCm39) missense possibly damaging 0.66
IGL03170:Ranbp3l APN 15 9,029,611 (GRCm39) missense probably damaging 1.00
IGL03338:Ranbp3l APN 15 9,060,940 (GRCm39) missense probably damaging 1.00
PIT4791001:Ranbp3l UTSW 15 9,060,829 (GRCm39) missense probably damaging 1.00
R0137:Ranbp3l UTSW 15 9,063,067 (GRCm39) missense probably damaging 1.00
R0383:Ranbp3l UTSW 15 9,063,184 (GRCm39) missense possibly damaging 0.48
R0699:Ranbp3l UTSW 15 9,058,850 (GRCm39) critical splice donor site probably null
R1517:Ranbp3l UTSW 15 9,065,081 (GRCm39) nonsense probably null
R1629:Ranbp3l UTSW 15 9,065,068 (GRCm39) missense probably damaging 0.99
R1922:Ranbp3l UTSW 15 9,057,206 (GRCm39) missense probably damaging 1.00
R2058:Ranbp3l UTSW 15 9,029,641 (GRCm39) missense probably damaging 1.00
R2265:Ranbp3l UTSW 15 9,057,194 (GRCm39) missense probably damaging 0.99
R2512:Ranbp3l UTSW 15 8,997,949 (GRCm39) missense probably benign 0.00
R4077:Ranbp3l UTSW 15 9,060,838 (GRCm39) missense probably damaging 1.00
R4079:Ranbp3l UTSW 15 9,060,838 (GRCm39) missense probably damaging 1.00
R4179:Ranbp3l UTSW 15 9,057,279 (GRCm39) missense possibly damaging 0.62
R5227:Ranbp3l UTSW 15 9,037,186 (GRCm39) missense probably damaging 0.99
R5265:Ranbp3l UTSW 15 9,037,077 (GRCm39) missense probably benign 0.01
R5722:Ranbp3l UTSW 15 9,029,656 (GRCm39) missense probably damaging 0.98
R5751:Ranbp3l UTSW 15 9,063,169 (GRCm39) missense probably damaging 1.00
R5976:Ranbp3l UTSW 15 9,030,916 (GRCm39) missense possibly damaging 0.85
R6504:Ranbp3l UTSW 15 8,997,946 (GRCm39) missense probably benign 0.27
R6940:Ranbp3l UTSW 15 9,041,792 (GRCm39) missense probably benign 0.03
R7009:Ranbp3l UTSW 15 9,063,064 (GRCm39) missense probably damaging 1.00
R7018:Ranbp3l UTSW 15 9,037,159 (GRCm39) missense probably benign 0.00
R7019:Ranbp3l UTSW 15 9,057,241 (GRCm39) missense probably damaging 0.99
R7250:Ranbp3l UTSW 15 9,041,853 (GRCm39) missense probably benign
R7352:Ranbp3l UTSW 15 8,997,842 (GRCm39) start gained probably benign
R7483:Ranbp3l UTSW 15 9,030,955 (GRCm39) missense possibly damaging 0.86
R8210:Ranbp3l UTSW 15 9,065,059 (GRCm39) missense probably benign 0.00
R9255:Ranbp3l UTSW 15 9,057,293 (GRCm39) missense probably benign 0.00
R9389:Ranbp3l UTSW 15 9,057,304 (GRCm39) missense probably damaging 1.00
R9511:Ranbp3l UTSW 15 9,041,991 (GRCm39) intron probably benign
R9513:Ranbp3l UTSW 15 9,037,176 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGCCAGGCCTAATAGTGTCAG -3'
(R):5'- CAAGTCATTTCTTTGAGGTCACTAGTC -3'

Sequencing Primer
(F):5'- GCCTAATAGTGTCAGGGCAC -3'
(R):5'- GAAAACTGGAACCCTGCCTGTG -3'
Posted On 2018-09-12