Incidental Mutation 'R9633:Izumo3'
ID 725654
Institutional Source Beutler Lab
Gene Symbol Izumo3
Ensembl Gene ENSMUSG00000028533
Gene Name IZUMO family member 3
Synonyms 1700011H22Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R9633 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 92032566-92035471 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92034795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 94 (Y94F)
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: Y94F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102725
Gene: ENSMUSG00000028533
AA Change: Y94F

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: Y24F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121187
Gene: ENSMUSG00000028533
AA Change: Y24F

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 A G 4: 106,613,178 (GRCm39) V319A probably damaging Het
Afap1l1 A C 18: 61,890,795 (GRCm39) S53A possibly damaging Het
Alms1 T A 6: 85,600,125 (GRCm39) N1650K probably damaging Het
Atf6b T A 17: 34,872,507 (GRCm39) V553E possibly damaging Het
Avl9 T A 6: 56,707,634 (GRCm39) I193N probably damaging Het
Ceacam3 A G 7: 16,895,688 (GRCm39) N553D Het
Dnah3 C A 7: 119,550,216 (GRCm39) V389L probably benign Het
Erich6 T C 3: 58,537,277 (GRCm39) M246V probably benign Het
F830016B08Rik A T 18: 60,432,965 (GRCm39) D16V probably damaging Het
Fgfr1 T A 8: 26,060,776 (GRCm39) Y483N probably damaging Het
Fmo4 T A 1: 162,631,191 (GRCm39) M259L probably benign Het
Gnat2 T A 3: 108,002,770 (GRCm39) D59E probably benign Het
Kcnb2 A T 1: 15,781,444 (GRCm39) H772L probably benign Het
Kcnrg CACAACAA CACAA 14: 61,845,009 (GRCm39) probably benign Het
Krt6b C T 15: 101,586,996 (GRCm39) V259M probably benign Het
Lingo2 A G 4: 35,709,885 (GRCm39) C32R Het
Lrrtm4 C T 6: 80,000,064 (GRCm39) T492M probably damaging Het
Maea T A 5: 33,526,050 (GRCm39) M242K possibly damaging Het
Mdga2 T C 12: 66,736,206 (GRCm39) T341A probably benign Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Mmadhc A T 2: 50,178,988 (GRCm39) S143R probably benign Het
Ms4a8a A G 19: 11,056,956 (GRCm39) V42A probably benign Het
N4bp2l2 A T 5: 150,585,103 (GRCm39) H292Q probably benign Het
Nkx2-2 A G 2: 147,027,686 (GRCm39) Y85H possibly damaging Het
Pramel14 T C 4: 143,720,818 (GRCm39) K41R possibly damaging Het
Psmb9 T A 17: 34,402,119 (GRCm39) D159V probably damaging Het
Rgs4 T A 1: 169,572,843 (GRCm39) D31V possibly damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc22a14 A G 9: 119,008,528 (GRCm39) S247P probably benign Het
Slc26a7 G A 4: 14,524,540 (GRCm39) T448I possibly damaging Het
Slc7a14 T A 3: 31,278,166 (GRCm39) T480S probably benign Het
Spocd1 T C 4: 129,850,463 (GRCm39) S830P unknown Het
Sycp2 A G 2: 177,998,254 (GRCm39) S1089P probably damaging Het
Tcf4 A T 18: 69,726,382 (GRCm39) probably benign Het
Tktl2 T C 8: 66,965,813 (GRCm39) V457A probably benign Het
Tmem131 A T 1: 36,847,069 (GRCm39) I1343N probably damaging Het
Tnrc6c G A 11: 117,638,009 (GRCm39) A1164T probably damaging Het
Tomm5 G A 4: 45,107,982 (GRCm39) R18W probably damaging Het
Ubxn7 T C 16: 32,200,248 (GRCm39) S335P probably benign Het
Unc5c A C 3: 141,495,654 (GRCm39) T508P probably damaging Het
Upp1 G A 11: 9,084,909 (GRCm39) M209I Het
Vmn1r213 A G 13: 23,195,519 (GRCm39) D34G unknown Het
Vmn1r235 G T 17: 21,482,330 (GRCm39) W218C possibly damaging Het
Vmn1r235 G T 17: 21,482,329 (GRCm39) W218L probably benign Het
Vmn2r57 T C 7: 41,076,006 (GRCm39) E502G probably benign Het
Wwc2 GCC GCCC 8: 48,304,959 (GRCm39) probably null Het
Zfc3h1 T A 10: 115,247,852 (GRCm39) H1018Q probably damaging Het
Zfp318 T A 17: 46,710,421 (GRCm39) S715T probably 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
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
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'- CCAAGTTTTGGCGGATCTCC -3'
(R):5'- AGGGAAGCTTGAGTCCTGAG -3'

Sequencing Primer
(F):5'- CGGATCTCCAGAAGATTGCCTTG -3'
(R):5'- AAGCTTGAGTCCTGAGAGTTTG -3'
Posted On 2022-09-12