Incidental Mutation 'R1558:Izumo3'
ID 170406
Institutional Source Beutler Lab
Gene Symbol Izumo3
Ensembl Gene ENSMUSG00000028533
Gene Name IZUMO family member 3
Synonyms 1700011H22Rik
MMRRC Submission 039597-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R1558 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 92032566-92035471 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 92035140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 26 (C26G)
Ref Sequence ENSEMBL: ENSMUSP00000102725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107108] [ENSMUST00000143542]
AlphaFold A6PWV3
Predicted Effect probably damaging
Transcript: ENSMUST00000107108
AA Change: C26G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102725
Gene: ENSMUSG00000028533
AA Change: C26G

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
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T A 4: 53,092,887 (GRCm39) Q299L probably null Het
Adamts9 T G 6: 92,885,692 (GRCm39) K399N possibly damaging Het
Alox12b T C 11: 69,056,711 (GRCm39) F369S probably damaging Het
Alpk2 A G 18: 65,483,301 (GRCm39) Y236H probably benign Het
Ankrd36 T C 11: 5,585,329 (GRCm39) L380P probably damaging Het
Atp2a1 C T 7: 126,051,844 (GRCm39) A468T possibly damaging Het
Caprin1 A T 2: 103,606,332 (GRCm39) F303I possibly damaging Het
Casp7 A T 19: 56,421,684 (GRCm39) R41* probably null Het
Ccdc66 T A 14: 27,208,463 (GRCm39) H753L probably benign Het
Ccnc T C 4: 21,742,671 (GRCm39) M166T probably benign Het
Cdkl3 T A 11: 51,923,337 (GRCm39) M538K possibly damaging Het
Cemip2 T A 19: 21,775,346 (GRCm39) Y196* probably null Het
Cercam G A 2: 29,766,251 (GRCm39) A345T probably benign Het
Chmp3 T A 6: 71,537,954 (GRCm39) C60* probably null Het
Ddx1 C T 12: 13,289,542 (GRCm39) G125S probably damaging Het
Defb7 A G 8: 19,547,567 (GRCm39) D24G probably benign Het
Dgcr8 A T 16: 18,077,452 (GRCm39) Y653N probably damaging Het
Dsc2 T C 18: 20,183,208 (GRCm39) D70G probably damaging Het
Erich3 T G 3: 154,419,705 (GRCm39) N266K probably damaging Het
Fastk A T 5: 24,649,045 (GRCm39) probably null Het
Fat4 A G 3: 38,943,135 (GRCm39) N676S probably damaging Het
Fermt1 A T 2: 132,776,739 (GRCm39) probably null Het
Fmn1 A G 2: 113,523,463 (GRCm39) T1149A possibly damaging Het
Foxo3 A G 10: 42,073,068 (GRCm39) V483A probably damaging Het
Fpgs T C 2: 32,575,852 (GRCm39) T364A possibly damaging Het
Gm12185 A G 11: 48,806,262 (GRCm39) S310P probably damaging Het
Gm15056 A T 8: 21,391,949 (GRCm39) probably benign Het
Hcn1 T C 13: 118,112,112 (GRCm39) V692A unknown Het
Kcnf1 T C 12: 17,225,474 (GRCm39) Y249C probably damaging Het
Kcnj6 T C 16: 94,563,358 (GRCm39) E380G possibly damaging Het
Kdm3b A G 18: 34,942,149 (GRCm39) T747A probably damaging Het
Lrba G A 3: 86,258,622 (GRCm39) G1370R probably damaging Het
Mei1 G A 15: 81,991,334 (GRCm39) R504Q probably damaging Het
Mgat4f G A 1: 134,318,512 (GRCm39) G428D probably damaging Het
Mipol1 T C 12: 57,379,127 (GRCm39) I195T probably damaging Het
Ncor2 G A 5: 125,110,610 (GRCm39) T1350I probably damaging Het
Npy A G 6: 49,800,705 (GRCm39) E43G probably damaging Het
Or4e5 T A 14: 52,727,603 (GRCm39) I273F probably benign Het
Or5w19 T A 2: 87,698,459 (GRCm39) N41K probably damaging Het
Or8d2 T A 9: 38,760,200 (GRCm39) N263K probably benign Het
Pcdhb3 T C 18: 37,434,634 (GRCm39) L200P probably damaging Het
Pcnt G A 10: 76,258,756 (GRCm39) H570Y possibly damaging Het
Phf8-ps T A 17: 33,284,679 (GRCm39) I708F probably benign Het
Pkd1l2 A C 8: 117,808,991 (GRCm39) D66E possibly damaging Het
Plekhg4 A G 8: 106,108,467 (GRCm39) D1170G possibly damaging Het
Poln T A 5: 34,190,143 (GRCm39) H672L probably benign Het
Ptprq T C 10: 107,479,904 (GRCm39) Y1122C probably damaging Het
Ptrhd1 A G 12: 4,286,505 (GRCm39) Y132C probably damaging Het
Pwwp3a G T 10: 80,068,778 (GRCm39) R307S probably benign Het
Riok1 G T 13: 38,234,831 (GRCm39) R300L probably damaging Het
Sbf2 G T 7: 110,027,553 (GRCm39) T481K probably damaging Het
Sidt2 A T 9: 45,863,098 (GRCm39) M11K probably damaging Het
Slc66a1 A T 4: 139,027,391 (GRCm39) probably benign Het
Syne1 G A 10: 5,299,280 (GRCm39) R992* probably null Het
Tmem8b C A 4: 43,681,134 (GRCm39) R384S possibly damaging Het
Trim28 T C 7: 12,761,761 (GRCm39) Y243H probably damaging Het
Trpm6 T C 19: 18,764,192 (GRCm39) M266T probably benign Het
Tsg101 A T 7: 46,539,437 (GRCm39) S368T probably damaging Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ttc6 G A 12: 57,733,132 (GRCm39) V1092I probably benign Het
Vps13b C T 15: 35,534,465 (GRCm39) T927I probably damaging Het
Zfr C T 15: 12,140,730 (GRCm39) T259I unknown 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
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
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
Predicted Primers PCR Primer
(F):5'- CGAAGCATCTTATCCTTGTGGGAGAC -3'
(R):5'- AGAACTCAGGTAACTGCTCCCCATC -3'

Sequencing Primer
(F):5'- ATCCTTGTGGGAGACCTTGG -3'
(R):5'- AGTTCCCTCTCTCTGGAATGAAAG -3'
Posted On 2014-04-13