Incidental Mutation 'IGL03219:Ranbp6'
ID413574
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ranbp6
Ensembl Gene ENSMUSG00000074909
Gene NameRAN binding protein 6
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.209) question?
Stock #IGL03219
Quality Score
Status
Chromosome19
Chromosomal Location29808400-29812974 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 29810280 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 891 (W891R)
Ref Sequence ENSEMBL: ENSMUSP00000100503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099525] [ENSMUST00000177155]
Predicted Effect probably damaging
Transcript: ENSMUST00000099525
AA Change: W891R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100503
Gene: ENSMUSG00000074909
AA Change: W891R

DomainStartEndE-ValueType
low complexity region 70 78 N/A INTRINSIC
Pfam:HEAT_2 367 475 2.4e-12 PFAM
Pfam:HEAT_EZ 380 434 1.1e-9 PFAM
Pfam:HEAT 409 438 8.3e-7 PFAM
Pfam:HEAT 916 944 1.1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175726
Predicted Effect probably benign
Transcript: ENSMUST00000177155
SMART Domains Protein: ENSMUSP00000135473
Gene: ENSMUSG00000046138

DomainStartEndE-ValueType
low complexity region 4 66 N/A INTRINSIC
BROMO 75 198 1.22e-3 SMART
low complexity region 205 219 N/A INTRINSIC
low complexity region 280 298 N/A INTRINSIC
low complexity region 428 441 N/A INTRINSIC
coiled coil region 606 638 N/A INTRINSIC
low complexity region 655 689 N/A INTRINSIC
coiled coil region 697 729 N/A INTRINSIC
low complexity region 1079 1093 N/A INTRINSIC
internal_repeat_1 1097 1226 1.32e-7 PROSPERO
low complexity region 1228 1237 N/A INTRINSIC
low complexity region 1319 1348 N/A INTRINSIC
low complexity region 1401 1416 N/A INTRINSIC
low complexity region 1535 1557 N/A INTRINSIC
low complexity region 1580 1596 N/A INTRINSIC
low complexity region 1665 1678 N/A INTRINSIC
internal_repeat_1 1699 1843 1.32e-7 PROSPERO
low complexity region 1920 1926 N/A INTRINSIC
low complexity region 1946 1960 N/A INTRINSIC
low complexity region 1986 2004 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clasp2 T C 9: 113,848,477 probably benign Het
Ctss C T 3: 95,543,100 R121W possibly damaging Het
Cyp2c67 A T 19: 39,643,294 M153K possibly damaging Het
Cyp2d34 T C 15: 82,618,539 H162R probably benign Het
Dynlrb2 A T 8: 116,514,896 I60F probably benign Het
E4f1 C T 17: 24,445,445 probably null Het
Fzd6 T A 15: 39,031,576 V379E probably damaging Het
Galnt13 T C 2: 54,933,435 V341A possibly damaging Het
Hip1 T C 5: 135,457,050 S100G probably benign Het
Ncapd3 T C 9: 27,063,873 probably benign Het
Obox3 G A 7: 15,625,878 L289F probably damaging Het
Olfr605 C T 7: 103,442,538 G195E possibly damaging Het
Olfr914 G T 9: 38,606,951 C162F probably benign Het
Pkhd1l1 G A 15: 44,596,895 E4167K possibly damaging Het
Pphln1 T C 15: 93,465,255 probably benign Het
Rgs22 A T 15: 36,107,048 L64Q probably damaging Het
Ripor2 A T 13: 24,723,719 Y991F probably damaging Het
Senp2 T A 16: 22,014,264 probably benign Het
Slc44a3 G A 3: 121,463,520 T508I probably damaging Het
Tdrd6 T C 17: 43,627,964 D731G probably benign Het
Thnsl1 T A 2: 21,212,406 C324S probably benign Het
Tnfrsf11b A T 15: 54,254,178 L227* probably null Het
Tulp4 T C 17: 6,139,010 C36R probably damaging Het
Other mutations in Ranbp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02020:Ranbp6 APN 19 29809776 missense probably benign 0.00
IGL02665:Ranbp6 APN 19 29812901 missense possibly damaging 0.64
IGL02943:Ranbp6 APN 19 29812124 missense possibly damaging 0.91
IGL03018:Ranbp6 APN 19 29811389 missense probably damaging 1.00
R0137:Ranbp6 UTSW 19 29809697 missense probably benign 0.16
R0412:Ranbp6 UTSW 19 29812083 missense possibly damaging 0.91
R1171:Ranbp6 UTSW 19 29812279 missense probably benign 0.37
R1521:Ranbp6 UTSW 19 29811446 missense probably benign
R1967:Ranbp6 UTSW 19 29812500 nonsense probably null
R2257:Ranbp6 UTSW 19 29811549 missense possibly damaging 0.47
R4490:Ranbp6 UTSW 19 29810333 missense probably damaging 1.00
R4624:Ranbp6 UTSW 19 29810863 nonsense probably null
R4625:Ranbp6 UTSW 19 29810863 nonsense probably null
R4626:Ranbp6 UTSW 19 29810863 nonsense probably null
R4649:Ranbp6 UTSW 19 29810321 missense probably benign 0.23
R4709:Ranbp6 UTSW 19 29811584 missense probably benign 0.00
R4777:Ranbp6 UTSW 19 29811637 missense probably damaging 1.00
R4895:Ranbp6 UTSW 19 29809775 missense possibly damaging 0.93
R5362:Ranbp6 UTSW 19 29811728 missense probably benign 0.30
R5379:Ranbp6 UTSW 19 29811683 missense probably damaging 1.00
R5617:Ranbp6 UTSW 19 29812463 missense probably damaging 1.00
R6264:Ranbp6 UTSW 19 29812626 missense probably benign 0.00
R7091:Ranbp6 UTSW 19 29812716 missense probably damaging 1.00
R7234:Ranbp6 UTSW 19 29812062 missense possibly damaging 0.67
R7664:Ranbp6 UTSW 19 29812076 missense possibly damaging 0.90
R7904:Ranbp6 UTSW 19 29812413 missense probably benign
R7987:Ranbp6 UTSW 19 29812413 missense probably benign
R8023:Ranbp6 UTSW 19 29811822 missense possibly damaging 0.81
X0024:Ranbp6 UTSW 19 29812440 missense probably damaging 1.00
Posted On2016-08-02