Incidental Mutation 'R1222:Izumo3'
ID152746
Institutional Source Beutler Lab
Gene Symbol Izumo3
Ensembl Gene ENSMUSG00000028533
Gene NameIZUMO family member 3
Synonyms1700011H22Rik
MMRRC Submission 039291-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #R1222 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location92144329-92147234 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 92145047 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 104 (N104I)
Ref Sequence ENSEMBL: ENSMUSP00000121187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107108] [ENSMUST00000143542]
Predicted Effect probably damaging
Transcript: ENSMUST00000107108
AA Change: N174I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102725
Gene: ENSMUSG00000028533
AA Change: N174I

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 damaging
Transcript: ENSMUST00000143542
AA Change: N104I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000121187
Gene: ENSMUSG00000028533
AA Change: N104I

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
Meta Mutation Damage Score 0.1970 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 96% (54/56)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,145,064 probably benign Het
Abl1 T C 2: 31,800,994 S842P probably benign Het
Agrn C A 4: 156,177,385 V483L probably damaging Het
Ankrd13a T A 5: 114,800,763 C365* probably null Het
Ap2b1 T C 11: 83,346,738 S543P probably benign Het
Atic C T 1: 71,559,279 T67I probably damaging Het
Car9 G T 4: 43,512,439 probably null Het
Cux1 C T 5: 136,275,149 R1391Q probably benign Het
Cyp2a4 T C 7: 26,308,588 V140A possibly damaging Het
Dlgap3 A T 4: 127,194,613 M1L probably null Het
Dnah3 T C 7: 120,090,676 D2G probably benign Het
Erbb3 A C 10: 128,571,665 V938G probably damaging Het
Fam13a C T 6: 58,935,722 probably benign Het
Gata2 G A 6: 88,200,341 V118I probably benign Het
Gm2663 T C 6: 40,996,041 I211V probably benign Het
Gm5096 A G 18: 87,757,334 K327R probably damaging Het
Gm8298 T A 3: 59,877,261 L385* probably null Het
Kifc1 G A 17: 33,884,711 R195C probably benign Het
Mctp2 T A 7: 72,259,139 H142L probably benign Het
Mmp10 T C 9: 7,505,681 probably benign Het
Mroh8 G A 2: 157,241,854 probably benign Het
Mylk T C 16: 34,860,652 V94A probably benign Het
Nol6 A T 4: 41,120,760 N396K probably benign Het
Nr4a2 A T 2: 57,108,324 N543K probably damaging Het
Nynrin T C 14: 55,863,541 S263P probably benign Het
Olfr1115 G T 2: 87,252,422 G162C probably benign Het
Olfr395 A T 11: 73,907,414 L26H probably damaging Het
Olfr493 T A 7: 108,346,106 I292F probably damaging Het
Olfr77 G A 9: 19,921,048 V280I possibly damaging Het
Pkhd1 T A 1: 20,567,456 R368S probably benign Het
Plekhg4 G A 8: 105,379,110 A736T probably benign Het
Plxna2 A G 1: 194,800,649 D1550G probably damaging Het
Qrfpr C A 3: 36,180,095 G366W probably damaging Het
Qser1 C A 2: 104,777,431 A1471S probably damaging Het
Rars A T 11: 35,809,740 Y505N probably damaging Het
Reln T A 5: 21,986,955 T1496S probably null Het
Rrs1 T C 1: 9,545,855 L111P probably benign Het
Selplg C T 5: 113,819,373 V291M possibly damaging Het
Serpinb1c T A 13: 32,896,951 T50S possibly damaging Het
Slc4a5 A G 6: 83,280,132 K640E probably damaging Het
Szt2 A T 4: 118,405,459 H40Q possibly damaging Het
Taar4 C T 10: 23,961,332 T280I probably benign Het
Tdo2 A G 3: 81,961,468 probably null Het
Tpp1 T C 7: 105,746,741 N527S probably benign Het
Trim43c A T 9: 88,843,078 T218S possibly damaging Het
Trim45 G T 3: 100,927,298 M432I probably benign Het
Ubr4 T C 4: 139,388,471 probably null Het
Vat1l T C 8: 114,282,361 probably benign Het
Xpo7 A T 14: 70,667,084 H1037Q possibly damaging Het
Zmiz1 T C 14: 25,658,096 probably benign 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
IGL01586:Izumo3 APN 4 92146295 critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- TGCAAACATGGAATCTGGCTTAGAGAG -3'
(R):5'- AGCTTACAGTATTCCCACCAGCAATG -3'

Sequencing Primer
(F):5'- TCCCATCCAGCTTGTGTG -3'
(R):5'- agaagtgggagtgagtaggtag -3'
Posted On2014-01-29