Incidental Mutation 'IGL03391:Izumo4'
ID421062
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Izumo4
Ensembl Gene ENSMUSG00000055862
Gene NameIZUMO family member 4
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03391
Quality Score
Status
Chromosome10
Chromosomal Location80702184-80705373 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80705113 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 216 (T216A)
Ref Sequence ENSEMBL: ENSMUSP00000151397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003438] [ENSMUST00000020420] [ENSMUST00000218090] [ENSMUST00000218184] [ENSMUST00000218610]
Predicted Effect probably benign
Transcript: ENSMUST00000003438
SMART Domains Protein: ENSMUSP00000003438
Gene: ENSMUSG00000003348

DomainStartEndE-ValueType
Mob1_phocein 34 208 6.02e-107 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000020420
SMART Domains Protein: ENSMUSP00000020420
Gene: ENSMUSG00000020198

DomainStartEndE-ValueType
Pfam:Adaptin_N 32 583 6.6e-153 PFAM
Pfam:Cnd1 130 292 2.1e-8 PFAM
low complexity region 629 642 N/A INTRINSIC
BLVR 660 803 5.3e-80 SMART
low complexity region 835 861 N/A INTRINSIC
low complexity region 871 881 N/A INTRINSIC
coiled coil region 910 933 N/A INTRINSIC
low complexity region 947 964 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000095426
AA Change: T197A
SMART Domains Protein: ENSMUSP00000093076
Gene: ENSMUSG00000055862
AA Change: T197A

DomainStartEndE-ValueType
Pfam:IZUMO 26 167 1.1e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217823
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218058
Predicted Effect probably benign
Transcript: ENSMUST00000218090
Predicted Effect probably damaging
Transcript: ENSMUST00000218184
AA Change: T216A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000218330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218538
Predicted Effect probably benign
Transcript: ENSMUST00000218610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219987
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,246,884 D586G probably damaging Het
Acadvl A C 11: 70,010,716 M557R probably damaging Het
Ano2 T A 6: 125,807,839 N327K probably damaging Het
Cdh11 A T 8: 102,674,023 D104E possibly damaging Het
Chrnb2 A G 3: 89,760,877 F377S probably damaging Het
Cngb1 T C 8: 95,303,705 probably benign Het
Dnaaf1 C T 8: 119,582,616 R148C probably damaging Het
Esrrg A T 1: 188,150,223 I226F possibly damaging Het
Evl C A 12: 108,676,099 probably null Het
Gpam T C 19: 55,081,696 E376G probably damaging Het
Gzf1 C A 2: 148,683,683 R25S probably damaging Het
Ighv5-2 A T 12: 113,578,518 Y113* probably null Het
Lrp1b T G 2: 41,295,641 Y1354S possibly damaging Het
Mark1 A G 1: 184,919,435 probably benign Het
Mylpf A G 7: 127,213,177 I17V probably benign Het
Myo18b C A 5: 112,874,479 probably benign Het
Nbas C T 12: 13,483,749 A1795V probably benign Het
Olfr1134 A G 2: 87,656,688 S78P possibly damaging Het
Olfr1484 A G 19: 13,586,119 M272V probably benign Het
Olfr697 A T 7: 106,741,755 Y60N probably damaging Het
Oprm1 A C 10: 7,014,077 probably benign Het
Parp14 T C 16: 35,858,270 M443V probably benign Het
Psca T C 15: 74,714,868 F5S probably benign Het
Ptbp2 A T 3: 119,720,382 Y514* probably null Het
Scg3 A G 9: 75,661,251 probably null Het
Scn2a T C 2: 65,764,213 V1802A probably damaging Het
Serpinb3a A G 1: 107,046,342 S280P possibly damaging Het
Slc39a14 T C 14: 70,309,842 I352V probably damaging Het
Slc6a2 G T 8: 92,961,452 V69L probably damaging Het
Slc8a1 A G 17: 81,432,638 probably benign Het
Tjp1 T C 7: 65,314,969 D818G probably damaging Het
Tnfaip8 T C 18: 50,090,485 V120A probably damaging Het
Trmt5 G A 12: 73,281,452 H326Y probably benign Het
Vmn1r222 T C 13: 23,232,462 M194V possibly damaging Het
Zbtb17 A G 4: 141,466,758 E699G probably damaging Het
Other mutations in Izumo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02850:Izumo4 APN 10 80704198 unclassified probably benign
IGL03019:Izumo4 APN 10 80703846 unclassified probably benign
F5770:Izumo4 UTSW 10 80703891 missense probably benign 0.02
IGL02835:Izumo4 UTSW 10 80705125 missense probably benign
R0304:Izumo4 UTSW 10 80702936 missense probably damaging 1.00
R0377:Izumo4 UTSW 10 80702840 missense probably damaging 1.00
R0411:Izumo4 UTSW 10 80703084 missense probably damaging 0.99
R0498:Izumo4 UTSW 10 80704196 critical splice donor site probably null
R1822:Izumo4 UTSW 10 80703895 missense probably damaging 1.00
R1870:Izumo4 UTSW 10 80703735 missense probably damaging 1.00
R1977:Izumo4 UTSW 10 80703121 missense probably damaging 1.00
R2237:Izumo4 UTSW 10 80702830 missense probably damaging 1.00
R5288:Izumo4 UTSW 10 80702805 nonsense probably null
R5543:Izumo4 UTSW 10 80702834 missense probably damaging 1.00
R5587:Izumo4 UTSW 10 80703220 missense probably damaging 1.00
R6199:Izumo4 UTSW 10 80702873 missense probably damaging 1.00
R6222:Izumo4 UTSW 10 80703051 missense probably damaging 1.00
R6349:Izumo4 UTSW 10 80702717 start codon destroyed probably null 0.02
V7580:Izumo4 UTSW 10 80703891 missense probably benign 0.02
V7581:Izumo4 UTSW 10 80703891 missense probably benign 0.02
V7582:Izumo4 UTSW 10 80703891 missense probably benign 0.02
V7583:Izumo4 UTSW 10 80703891 missense probably benign 0.02
Posted On2016-08-02