Incidental Mutation 'IGL00843:Zranb1'
ID15052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zranb1
Ensembl Gene ENSMUSG00000030967
Gene Namezinc finger, RAN-binding domain containing 1
Synonyms9330160G10Rik, D7Wsu87e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.840) question?
Stock #IGL00843
Quality Score
Status
Chromosome7
Chromosomal Location132931142-132986391 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 132949893 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Proline at position 117 (H117P)
Ref Sequence ENSEMBL: ENSMUSP00000148867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033265] [ENSMUST00000106157] [ENSMUST00000124096] [ENSMUST00000210507] [ENSMUST00000215716]
Predicted Effect probably benign
Transcript: ENSMUST00000033265
AA Change: H91P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033265
Gene: ENSMUSG00000030967
AA Change: H91P

DomainStartEndE-ValueType
ZnF_RBZ 6 30 9.14e-5 SMART
ZnF_RBZ 86 110 6.56e-6 SMART
ZnF_RBZ 151 175 1.69e-8 SMART
low complexity region 180 195 N/A INTRINSIC
Pfam:OTU 438 586 9.8e-35 PFAM
low complexity region 698 708 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106157
AA Change: H91P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101763
Gene: ENSMUSG00000030967
AA Change: H91P

DomainStartEndE-ValueType
ZnF_RBZ 6 30 9.14e-5 SMART
ZnF_RBZ 86 110 6.56e-6 SMART
ZnF_RBZ 151 175 1.69e-8 SMART
low complexity region 180 195 N/A INTRINSIC
Pfam:OTU 438 586 1.5e-40 PFAM
low complexity region 698 708 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210507
AA Change: H91P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000215716
AA Change: H117P

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased CD4+ T cells and decreased susceptibility to experimental autoimmune encephalomyelitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bglap A G 3: 88,384,350 probably null Het
Clcn2 T C 16: 20,703,641 T772A probably benign Het
Cldn18 A T 9: 99,698,821 F125I probably benign Het
Ehhadh A G 16: 21,762,629 S538P possibly damaging Het
Ets2 T G 16: 95,709,793 F32V probably benign Het
F5 G A 1: 164,211,791 R1990Q probably benign Het
Fetub A G 16: 22,929,629 probably benign Het
Hecw1 C T 13: 14,247,573 E983K probably benign Het
Hemgn A G 4: 46,396,240 M332T probably benign Het
Hmcn1 A G 1: 150,610,713 I4314T possibly damaging Het
Impad1 T C 4: 4,776,308 probably benign Het
Lonrf2 C A 1: 38,812,535 probably benign Het
Lrrc9 T C 12: 72,463,417 I430T possibly damaging Het
Lrrk2 T C 15: 91,757,058 V1606A possibly damaging Het
Oog2 G T 4: 144,195,172 L217F probably damaging Het
Plxnc1 T C 10: 94,847,549 H791R probably benign Het
Prdm2 G A 4: 143,134,314 S802L probably damaging Het
Prss32 T A 17: 23,857,362 L233Q probably damaging Het
Rapgef6 T A 11: 54,691,273 V1337E probably benign Het
Slc15a3 T A 19: 10,853,263 M326K probably null Het
Slc25a54 A T 3: 109,112,860 T397S possibly damaging Het
Slfn3 C T 11: 83,213,431 T376M probably damaging Het
Stradb T A 1: 58,994,409 D410E probably benign Het
Tdh T C 14: 63,495,764 T178A probably damaging Het
Tspan12 T A 6: 21,851,082 probably benign Het
Ube2b A T 11: 51,995,375 D50E probably benign Het
Other mutations in Zranb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Zranb1 APN 7 132982504 splice site probably benign
IGL01727:Zranb1 APN 7 132966620 missense probably damaging 1.00
IGL02087:Zranb1 APN 7 132973417 splice site probably benign
IGL02676:Zranb1 APN 7 132966681 missense probably benign 0.16
IGL03081:Zranb1 APN 7 132950397 missense probably damaging 0.99
IGL03095:Zranb1 APN 7 132949906 nonsense probably null
IGL03186:Zranb1 APN 7 132950203 missense possibly damaging 0.68
PIT4151001:Zranb1 UTSW 7 132949994 missense probably benign
R0207:Zranb1 UTSW 7 132950385 missense probably damaging 1.00
R0470:Zranb1 UTSW 7 132982771 missense probably damaging 1.00
R0854:Zranb1 UTSW 7 132949848 missense possibly damaging 0.78
R1318:Zranb1 UTSW 7 132966552 nonsense probably null
R1389:Zranb1 UTSW 7 132971333 missense probably damaging 1.00
R1480:Zranb1 UTSW 7 132950016 missense probably benign 0.39
R1656:Zranb1 UTSW 7 132949767 missense probably benign 0.31
R1956:Zranb1 UTSW 7 132982729 missense probably damaging 1.00
R1958:Zranb1 UTSW 7 132982729 missense probably damaging 1.00
R2010:Zranb1 UTSW 7 132966696 critical splice donor site probably null
R2289:Zranb1 UTSW 7 132950039 missense probably damaging 1.00
R3831:Zranb1 UTSW 7 132982776 missense probably damaging 0.98
R4128:Zranb1 UTSW 7 132966552 nonsense probably null
R4745:Zranb1 UTSW 7 132972714 missense probably damaging 0.97
R5121:Zranb1 UTSW 7 132950187 missense probably benign 0.06
R5262:Zranb1 UTSW 7 132982827 small insertion probably benign
R5263:Zranb1 UTSW 7 132982827 small insertion probably benign
R5264:Zranb1 UTSW 7 132982827 small insertion probably benign
R5522:Zranb1 UTSW 7 132983949 makesense probably null
R6252:Zranb1 UTSW 7 132983904 missense probably benign 0.00
R6519:Zranb1 UTSW 7 132950128 nonsense probably null
R6671:Zranb1 UTSW 7 132971313 missense probably damaging 1.00
R6827:Zranb1 UTSW 7 132949745 missense probably benign 0.17
R6928:Zranb1 UTSW 7 132966594 missense possibly damaging 0.65
R7313:Zranb1 UTSW 7 132982752 missense probably damaging 1.00
R7583:Zranb1 UTSW 7 132983896 missense probably benign 0.00
R8181:Zranb1 UTSW 7 132983779 missense probably damaging 1.00
R8236:Zranb1 UTSW 7 132949664 missense probably damaging 0.99
Posted On2012-12-06