Incidental Mutation 'IGL01310:Izumo3'
ID 73667
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 # IGL01310
Quality Score
Status
Chromosome 4
Chromosomal Location 92032566-92035471 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 92035217 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 benign
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 benign
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930431F12Rik A T 5: 45,125,156 (GRCm39) noncoding transcript Het
Abca12 A T 1: 71,323,315 (GRCm39) I1589N probably benign Het
Abca8a T G 11: 109,950,801 (GRCm39) D888A probably benign Het
Adam5 C T 8: 25,232,150 (GRCm39) probably benign Het
Amer1 A T X: 94,470,716 (GRCm39) N467K probably benign Het
Atp6v0a2 A G 5: 124,783,968 (GRCm39) D272G probably damaging Het
Cacna1b A T 2: 24,575,794 (GRCm39) N751K probably damaging Het
Cfi T A 3: 129,652,080 (GRCm39) N250K probably damaging Het
Cndp2 G T 18: 84,689,002 (GRCm39) P260Q possibly damaging Het
Cnnm3 A G 1: 36,551,956 (GRCm39) D322G probably benign Het
Crybg1 A T 10: 43,851,054 (GRCm39) S1606T possibly damaging Het
Crybg1 A G 10: 43,879,596 (GRCm39) S531P probably damaging Het
Espnl A T 1: 91,268,333 (GRCm39) K320* probably null Het
Glt1d1 A G 5: 127,709,384 (GRCm39) T13A possibly damaging Het
Gpam C T 19: 55,066,764 (GRCm39) A584T possibly damaging Het
Gpr19 A G 6: 134,846,705 (GRCm39) I289T probably damaging Het
Grm8 T C 6: 27,363,800 (GRCm39) I572V probably damaging Het
Gtpbp4 A T 13: 9,027,308 (GRCm39) N502K probably benign Het
Herpud2 T C 9: 25,062,247 (GRCm39) M6V probably benign Het
Igdcc3 T C 9: 65,085,724 (GRCm39) V263A probably damaging Het
Il33 G A 19: 29,930,156 (GRCm39) A65T probably benign Het
Itga9 T A 9: 118,598,227 (GRCm39) M1K probably null Het
Kdr G A 5: 76,110,261 (GRCm39) P909S probably damaging Het
Kirrel1 C T 3: 86,997,182 (GRCm39) E262K probably benign Het
Krt25 T A 11: 99,208,996 (GRCm39) Q278L probably benign Het
Lgi2 G T 5: 52,711,807 (GRCm39) P195Q probably benign Het
Lpcat3 T C 6: 124,676,301 (GRCm39) F120S possibly damaging Het
Nalcn C T 14: 123,554,661 (GRCm39) R910Q probably benign Het
Nrxn1 A G 17: 90,366,902 (GRCm39) probably null Het
Nuf2 A T 1: 169,326,431 (GRCm39) V440E probably benign Het
Or10ag60 T A 2: 87,437,852 (GRCm39) I40N possibly damaging Het
Or4f14 C T 2: 111,742,652 (GRCm39) V208M probably benign Het
Or51ah3 C T 7: 103,210,008 (GRCm39) S108F probably benign Het
Or6c205 T C 10: 129,086,865 (GRCm39) I154T possibly damaging Het
Pfpl A G 19: 12,405,974 (GRCm39) D75G probably damaging Het
Pgm5 A G 19: 24,812,130 (GRCm39) V134A possibly damaging Het
Prkch A G 12: 73,805,787 (GRCm39) I521V possibly damaging Het
Rps6kc1 T A 1: 190,515,822 (GRCm39) E968V probably benign Het
Slc25a30 T C 14: 76,007,037 (GRCm39) Y153C probably damaging Het
Smtnl2 T A 11: 72,292,171 (GRCm39) probably null Het
Spmip4 C A 6: 50,551,175 (GRCm39) V425L probably benign Het
Tbc1d14 T A 5: 36,700,544 (GRCm39) K275* probably null Het
Tnc T C 4: 63,931,314 (GRCm39) T799A probably benign Het
Trdn A T 10: 33,181,094 (GRCm39) probably benign Het
Ttn T C 2: 76,706,879 (GRCm39) probably benign Het
Uaca T C 9: 60,779,507 (GRCm39) M1296T probably benign Het
Ubash3a A C 17: 31,434,116 (GRCm39) I154L probably benign Het
Vmn2r4 T A 3: 64,317,200 (GRCm39) probably null Het
Xpc T C 6: 91,467,089 (GRCm39) K915E probably benign Het
Zfp318 T C 17: 46,724,153 (GRCm39) I2052T possibly damaging Het
Other mutations in Izumo3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Izumo3 APN 4 92,034,627 (GRCm39) splice site probably benign
IGL01586:Izumo3 APN 4 92,034,532 (GRCm39) critical splice donor site probably null
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 2013-10-07