Incidental Mutation 'IGL01586:Izumo3'
ID 91821
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Izumo3
Ensembl Gene ENSMUSG00000028533
Gene Name IZUMO family member 3
Synonyms 1700011H22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL01586
Quality Score
Status
Chromosome 4
Chromosomal Location 92032566-92035471 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 92034532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107108] [ENSMUST00000143542]
AlphaFold A6PWV3
Predicted Effect probably null
Transcript: ENSMUST00000107108
SMART Domains Protein: ENSMUSP00000102725
Gene: ENSMUSG00000028533

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
Pfam:IZUMO 22 165 6.7e-44 PFAM
transmembrane domain 179 201 N/A INTRINSIC
low complexity region 214 227 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000143542
SMART Domains Protein: ENSMUSP00000121187
Gene: ENSMUSG00000028533

DomainStartEndE-ValueType
Pfam:IZUMO 3 95 4.2e-27 PFAM
transmembrane domain 109 131 N/A INTRINSIC
low complexity region 144 157 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A T 17: 48,439,125 (GRCm39) Y144N unknown Het
Abca9 A C 11: 110,045,243 (GRCm39) C363W probably damaging Het
Acmsd G A 1: 127,687,447 (GRCm39) R243H probably damaging Het
Adam33 T C 2: 130,895,970 (GRCm39) T490A probably damaging Het
Ank1 A G 8: 23,610,928 (GRCm39) D1411G probably benign Het
Arhgap39 T C 15: 76,614,638 (GRCm39) E842G probably benign Het
Asgr2 T C 11: 69,996,193 (GRCm39) probably benign Het
Bbs9 T C 9: 22,557,293 (GRCm39) V14A possibly damaging Het
Cer1 A G 4: 82,803,080 (GRCm39) S81P probably damaging Het
Cln6 T A 9: 62,751,900 (GRCm39) H41Q probably damaging Het
Dock1 A G 7: 134,355,106 (GRCm39) D334G probably damaging Het
Dpy19l2 A G 9: 24,578,271 (GRCm39) I261T probably benign Het
Fhod3 T G 18: 25,223,804 (GRCm39) I1050S probably damaging Het
Gbgt1 T C 2: 28,387,842 (GRCm39) V22A probably benign Het
Kif11 T C 19: 37,372,681 (GRCm39) probably benign Het
Krt1c C A 15: 101,719,825 (GRCm39) G615V unknown Het
Midn A G 10: 79,992,477 (GRCm39) probably benign Het
Mier1 C T 4: 103,012,769 (GRCm39) T342I probably damaging Het
Mycbp2 A T 14: 103,378,305 (GRCm39) probably null Het
Nrp1 A T 8: 129,158,513 (GRCm39) S267C possibly damaging Het
Or8b8 A G 9: 37,809,272 (GRCm39) T191A possibly damaging Het
Pcdh20 A T 14: 88,708,344 (GRCm39) M28K probably benign Het
Prmt5 G A 14: 54,747,408 (GRCm39) probably benign Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Rps6ka5 T C 12: 100,537,173 (GRCm39) E519G probably damaging Het
Samm50 T A 15: 84,080,039 (GRCm39) I39N probably benign Het
Shc2 A T 10: 79,458,138 (GRCm39) M515K probably damaging Het
Sorbs2 T A 8: 46,248,631 (GRCm39) F608L probably damaging Het
Sos2 T C 12: 69,654,172 (GRCm39) K727E probably damaging Het
Sox13 A T 1: 133,317,182 (GRCm39) H150Q possibly damaging Het
Tmem132e T C 11: 82,325,495 (GRCm39) V165A probably damaging Het
Trmt11 T C 10: 30,473,747 (GRCm39) T43A probably benign Het
Tyrp1 G T 4: 80,763,135 (GRCm39) V341L probably benign Het
Ugt2b35 C A 5: 87,159,250 (GRCm39) H481Q probably benign Het
Zzz3 T A 3: 152,161,476 (GRCm39) I290N possibly damaging Het
Other mutations in Izumo3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Izumo3 APN 4 92,035,217 (GRCm39) intron probably benign
IGL01323:Izumo3 APN 4 92,034,627 (GRCm39) splice site probably benign
IGL02794:Izumo3 APN 4 92,035,200 (GRCm39) missense probably benign
IGL03146:Izumo3 APN 4 92,033,276 (GRCm39) missense probably damaging 0.97
IGL03180:Izumo3 APN 4 92,034,524 (GRCm39) splice site probably benign
R0053:Izumo3 UTSW 4 92,033,267 (GRCm39) missense probably damaging 0.99
R0137:Izumo3 UTSW 4 92,035,437 (GRCm39) splice site probably benign
R1222:Izumo3 UTSW 4 92,033,284 (GRCm39) missense probably damaging 1.00
R1558:Izumo3 UTSW 4 92,035,140 (GRCm39) missense probably damaging 1.00
R1605:Izumo3 UTSW 4 92,032,977 (GRCm39) missense probably damaging 0.99
R4413:Izumo3 UTSW 4 92,035,136 (GRCm39) missense probably damaging 1.00
R4834:Izumo3 UTSW 4 92,035,208 (GRCm39) missense possibly damaging 0.95
R5362:Izumo3 UTSW 4 92,035,037 (GRCm39) missense possibly damaging 0.87
R7348:Izumo3 UTSW 4 92,035,455 (GRCm39) missense possibly damaging 0.71
R7783:Izumo3 UTSW 4 92,033,260 (GRCm39) missense probably damaging 0.98
R8104:Izumo3 UTSW 4 92,035,145 (GRCm39) nonsense probably null
R8343:Izumo3 UTSW 4 92,034,581 (GRCm39) missense probably damaging 0.99
R8803:Izumo3 UTSW 4 92,033,310 (GRCm39) critical splice acceptor site probably null
R8836:Izumo3 UTSW 4 92,033,216 (GRCm39) critical splice donor site probably null
R9327:Izumo3 UTSW 4 92,035,050 (GRCm39) missense probably damaging 0.96
R9556:Izumo3 UTSW 4 92,035,117 (GRCm39) missense possibly damaging 0.46
R9633:Izumo3 UTSW 4 92,034,795 (GRCm39) missense probably damaging 0.99
R9788:Izumo3 UTSW 4 92,035,037 (GRCm39) missense probably benign 0.04
Z1088:Izumo3 UTSW 4 92,035,170 (GRCm39) missense probably damaging 0.98
Posted On 2013-12-09