Incidental Mutation 'IGL03081:Zranb1'
ID417876
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: 0.857) question?
Stock #IGL03081
Quality Score
Status
Chromosome7
Chromosomal Location132931142-132986391 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 132950397 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 259 (M259K)
Ref Sequence ENSEMBL: ENSMUSP00000101763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033265] [ENSMUST00000106157] [ENSMUST00000124096] [ENSMUST00000210507] [ENSMUST00000215716]
Predicted Effect probably damaging
Transcript: ENSMUST00000033265
AA Change: M259K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033265
Gene: ENSMUSG00000030967
AA Change: M259K

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 damaging
Transcript: ENSMUST00000106157
AA Change: M259K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101763
Gene: ENSMUSG00000030967
AA Change: M259K

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: M259K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably damaging
Transcript: ENSMUST00000215716
AA Change: M285K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 C A 19: 43,782,402 probably benign Het
Acan T G 7: 79,098,543 S1021A probably benign Het
Adamts6 A G 13: 104,444,956 probably benign Het
Apc2 A G 10: 80,312,252 K1018E probably damaging Het
Arhgef28 A T 13: 98,029,373 probably benign Het
Atp2b1 T C 10: 98,994,813 probably benign Het
Cct6b A T 11: 82,764,169 L20* probably null Het
Cd300ld2 G A 11: 115,012,542 probably benign Het
Cdc23 T G 18: 34,636,704 K454T probably damaging Het
Cdh20 A T 1: 104,941,257 I158F probably damaging Het
Cdk14 C T 5: 4,949,527 probably benign Het
Ces1d C A 8: 93,169,718 probably null Het
Clec2i A T 6: 128,894,765 Y113F probably damaging Het
Dmpk T A 7: 19,087,533 S239T probably damaging Het
Dnah8 T C 17: 30,686,373 probably benign Het
Exoc2 A G 13: 30,900,902 Y359H probably benign Het
Eya1 A T 1: 14,183,191 F520L possibly damaging Het
Fgfr1op2 A T 6: 146,597,319 I217F probably damaging Het
Gm12258 A G 11: 58,858,259 N87D probably benign Het
Gp6 A G 7: 4,371,648 S225P probably benign Het
Hdac7 T C 15: 97,798,306 Y619C probably damaging Het
Lars A G 18: 42,210,091 I1087T probably benign Het
Lrrc37a G T 11: 103,456,595 H3091Q unknown Het
Mcm3ap T C 10: 76,470,316 S88P possibly damaging Het
Mrps23 G A 11: 88,210,217 R117Q probably benign Het
Nbea T C 3: 56,079,918 S384G probably damaging Het
Ndufs4 A T 13: 114,307,837 I135N possibly damaging Het
Noto T C 6: 85,424,109 F40S probably damaging Het
Nr5a1 A T 2: 38,710,532 V41D possibly damaging Het
Olfr914 C T 9: 38,606,870 A135V probably benign Het
Papola T A 12: 105,818,855 H415Q probably damaging Het
Pcm1 C T 8: 41,275,060 T557I probably damaging Het
Pde11a A T 2: 76,075,930 probably benign Het
Pls1 A G 9: 95,773,643 V352A probably damaging Het
Pygm T C 19: 6,388,821 S226P possibly damaging Het
Rnf17 T A 14: 56,434,371 S273R probably benign Het
Scamp2 T C 9: 57,587,127 V261A possibly damaging Het
Slc7a12 T A 3: 14,481,255 F153L probably benign Het
Smchd1 A T 17: 71,360,191 D1735E probably damaging Het
Stk40 A G 4: 126,123,714 probably null Het
Tas2r124 C T 6: 132,755,534 L269F possibly damaging Het
Tmem260 A C 14: 48,496,293 I216L probably benign Het
Ubr1 C A 2: 120,961,156 A116S possibly damaging Het
Unc13a T C 8: 71,649,549 K991R probably damaging Het
Vmn2r66 T C 7: 85,007,930 Y89C probably benign Het
Vps13b A C 15: 35,875,820 I2784L probably damaging Het
Zbtb26 T A 2: 37,436,600 K141N possibly damaging Het
Other mutations in Zranb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Zranb1 APN 7 132982504 splice site probably benign
IGL00843:Zranb1 APN 7 132949893 missense probably benign 0.26
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
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
Posted On2016-08-02