Incidental Mutation 'IGL01586:Izumo3'
ID91821
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Izumo3
Ensembl Gene ENSMUSG00000028533
Gene NameIZUMO family member 3
Synonyms1700011H22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL01586
Quality Score
Status
Chromosome4
Chromosomal Location92144329-92147234 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 92146295 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107108] [ENSMUST00000143542]
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: 48,128,515 Y144N unknown Het
Abca9 A C 11: 110,154,417 C363W probably damaging Het
Acmsd G A 1: 127,759,710 R243H probably damaging Het
Adam33 T C 2: 131,054,050 T490A probably damaging Het
Ank1 A G 8: 23,120,912 D1411G probably benign Het
Arhgap39 T C 15: 76,730,438 E842G probably benign Het
Asgr2 T C 11: 70,105,367 probably benign Het
Bbs9 T C 9: 22,645,997 V14A possibly damaging Het
Cer1 A G 4: 82,884,843 S81P probably damaging Het
Cln6 T A 9: 62,844,618 H41Q probably damaging Het
Dock1 A G 7: 134,753,377 D334G probably damaging Het
Dpy19l2 A G 9: 24,666,975 I261T probably benign Het
Fhod3 T G 18: 25,090,747 I1050S probably damaging Het
Gbgt1 T C 2: 28,497,830 V22A probably benign Het
Kif11 T C 19: 37,384,233 probably benign Het
Krt2 C A 15: 101,811,390 G615V unknown Het
Midn A G 10: 80,156,643 probably benign Het
Mier1 C T 4: 103,155,572 T342I probably damaging Het
Mycbp2 A T 14: 103,140,869 probably null Het
Nrp1 A T 8: 128,432,032 S267C possibly damaging Het
Olfr145 A G 9: 37,897,976 T191A possibly damaging Het
Pcdh20 A T 14: 88,470,908 M28K probably benign Het
Prmt5 G A 14: 54,509,951 probably benign Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rps6ka5 T C 12: 100,570,914 E519G probably damaging Het
Samm50 T A 15: 84,195,838 I39N probably benign Het
Shc2 A T 10: 79,622,304 M515K probably damaging Het
Sorbs2 T A 8: 45,795,594 F608L probably damaging Het
Sos2 T C 12: 69,607,398 K727E probably damaging Het
Sox13 A T 1: 133,389,444 H150Q possibly damaging Het
Tmem132e T C 11: 82,434,669 V165A probably damaging Het
Trmt11 T C 10: 30,597,751 T43A probably benign Het
Tyrp1 G T 4: 80,844,898 V341L probably benign Het
Ugt2b35 C A 5: 87,011,391 H481Q probably benign Het
Zzz3 T A 3: 152,455,839 I290N possibly damaging Het
Other mutations in Izumo3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Izumo3 APN 4 92146980 intron probably benign
IGL01323:Izumo3 APN 4 92146390 splice site probably benign
IGL02794:Izumo3 APN 4 92146963 missense probably benign
IGL03146:Izumo3 APN 4 92145039 missense probably damaging 0.97
IGL03180:Izumo3 APN 4 92146287 splice site probably benign
R0053:Izumo3 UTSW 4 92145030 missense probably damaging 0.99
R0137:Izumo3 UTSW 4 92147200 splice site probably benign
R1222:Izumo3 UTSW 4 92145047 missense probably damaging 1.00
R1558:Izumo3 UTSW 4 92146903 missense probably damaging 1.00
R1605:Izumo3 UTSW 4 92144740 missense probably damaging 0.99
R4413:Izumo3 UTSW 4 92146899 missense probably damaging 1.00
R4834:Izumo3 UTSW 4 92146971 missense possibly damaging 0.95
R5362:Izumo3 UTSW 4 92146800 missense possibly damaging 0.87
R7348:Izumo3 UTSW 4 92147218 missense possibly damaging 0.71
Z1088:Izumo3 UTSW 4 92146933 missense probably damaging 0.98
Posted On2013-12-09