Incidental Mutation 'R5587:Izumo4'
ID 438831
Institutional Source Beutler Lab
Gene Symbol Izumo4
Ensembl Gene ENSMUSG00000055862
Gene Name IZUMO family member 4
MMRRC Submission 043141-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5587 (G1)
Quality Score 159
Status Validated
Chromosome 10
Chromosomal Location 80702184-80705373 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80703220 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 113 (N113Y)
Ref Sequence ENSEMBL: ENSMUSP00000151397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003438] [ENSMUST00000020420] [ENSMUST00000218090] [ENSMUST00000218184]
AlphaFold D3Z690
Predicted Effect probably benign
Transcript: ENSMUST00000003438
SMART Domains Protein: ENSMUSP00000003438
Gene: ENSMUSG00000003348

Mob1_phocein 34 208 6.02e-107 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000020420
SMART Domains Protein: ENSMUSP00000020420
Gene: ENSMUSG00000020198

Pfam:Adaptin_N 32 583 6.6e-153 PFAM
Pfam:Cnd1 130 292 2.1e-8 PFAM
low complexity region 629 642 N/A INTRINSIC
BLVR 660 803 5.3e-80 SMART
low complexity region 835 861 N/A INTRINSIC
low complexity region 871 881 N/A INTRINSIC
coiled coil region 910 933 N/A INTRINSIC
low complexity region 947 964 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000095426
AA Change: N110Y
SMART Domains Protein: ENSMUSP00000093076
Gene: ENSMUSG00000055862
AA Change: N110Y

Pfam:IZUMO 26 167 1.1e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217823
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218058
Predicted Effect probably benign
Transcript: ENSMUST00000218090
Predicted Effect probably damaging
Transcript: ENSMUST00000218184
AA Change: N113Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000218330
AA Change: N23Y
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219422
Meta Mutation Damage Score 0.1037 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 96% (78/81)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 138,065,409 (GRCm38) R120G probably benign Het
Acad11 A G 9: 104,063,767 (GRCm38) T3A probably benign Het
Adamts18 G A 8: 113,775,360 (GRCm38) Q290* probably null Het
Ahnak A G 19: 9,009,476 (GRCm38) D2708G possibly damaging Het
Asxl3 T A 18: 22,525,247 (GRCm38) C2105S probably benign Het
Atp8b1 A T 18: 64,539,210 (GRCm38) F1028I probably damaging Het
Axdnd1 C G 1: 156,351,412 (GRCm38) W615C probably damaging Het
Bcl3 A T 7: 19,809,634 (GRCm38) Y10* probably null Het
Bmp2 T A 2: 133,554,646 (GRCm38) V74E possibly damaging Het
Ccdc121 G T 5: 31,486,084 (GRCm38) G53W probably benign Het
Ccdc78 C A 17: 25,786,677 (GRCm38) P21Q probably benign Het
Cluap1 T A 16: 3,915,484 (GRCm38) V199E probably damaging Het
Cntnap3 T C 13: 64,746,738 (GRCm38) E1120G probably damaging Het
Col1a2 T A 6: 4,540,531 (GRCm38) W1330R unknown Het
Coq4 A G 2: 29,795,514 (GRCm38) probably null Het
Cwf19l1 G A 19: 44,120,877 (GRCm38) T346I possibly damaging Het
Cyct T C 2: 76,354,203 (GRCm38) Y68C probably damaging Het
Dnah10 T C 5: 124,793,913 (GRCm38) L2368P probably benign Het
Dnah2 A T 11: 69,437,242 (GRCm38) F3346I probably damaging Het
Dpp3 A T 19: 4,918,267 (GRCm38) V259E probably damaging Het
Dpyd A C 3: 119,064,951 (GRCm38) S605R probably damaging Het
Emc1 A G 4: 139,362,148 (GRCm38) E209G probably damaging Het
Esrra A G 19: 6,920,207 (GRCm38) S61P probably benign Het
Garin2 C A 12: 78,715,075 (GRCm38) P171H probably damaging Het
Gbx2 T A 1: 89,933,122 (GRCm38) probably benign Het
Hepacam A G 9: 37,384,684 (GRCm38) H377R probably damaging Het
Igkv12-46 T C 6: 69,764,550 (GRCm38) Y107C probably damaging Het
Intu A G 3: 40,675,308 (GRCm38) D356G probably damaging Het
Krt86 G A 15: 101,473,593 (GRCm38) A15T probably benign Het
Lhx8 A T 3: 154,311,679 (GRCm38) S275R probably damaging Het
Lingo3 A T 10: 80,835,530 (GRCm38) S189T probably damaging Het
Llgl1 T A 11: 60,710,342 (GRCm38) M702K probably benign Het
Lpin1 T C 12: 16,573,714 (GRCm38) Y223C Het
Lrit3 G T 3: 129,788,898 (GRCm38) A359E probably benign Het
Lrp2 T C 2: 69,499,263 (GRCm38) E1720G probably benign Het
Mcub A C 3: 129,916,970 (GRCm38) V271G probably benign Het
Nktr C T 9: 121,748,489 (GRCm38) probably benign Het
Or10g9 A T 9: 40,000,621 (GRCm38) I202N possibly damaging Het
Or13p4 T A 4: 118,689,870 (GRCm38) D194V probably damaging Het
Or1j18 A T 2: 36,734,621 (GRCm38) Q100L probably damaging Het
Or4d5 A T 9: 40,101,244 (GRCm38) L82Q probably damaging Het
Or52z12 T A 7: 103,584,531 (GRCm38) Y170N probably benign Het
Or9i1 G A 19: 13,862,576 (GRCm38) R261H probably damaging Het
Pcdha4 T C 18: 36,954,822 (GRCm38) V686A probably benign Het
Pelo A G 13: 115,089,873 (GRCm38) V16A possibly damaging Het
Plcd1 A G 9: 119,073,832 (GRCm38) S539P probably benign Het
Prss1 A G 6: 41,463,265 (GRCm38) I179V possibly damaging Het
Ptgs2 T C 1: 150,105,555 (GRCm38) Y530H probably damaging Het
Rai1 T C 11: 60,189,859 (GRCm38) V1583A probably damaging Het
Raph1 T G 1: 60,498,473 (GRCm38) D508A probably damaging Het
Rmnd5a A G 6: 71,394,619 (GRCm38) probably benign Het
Rsf1 T C 7: 97,662,121 (GRCm38) L686P probably benign Het
Samd9l T C 6: 3,373,291 (GRCm38) I1323M possibly damaging Het
Scn1a T C 2: 66,273,081 (GRCm38) N1934S probably benign Het
Sec23ip C T 7: 128,750,427 (GRCm38) H176Y probably benign Het
Sh3glb2 A G 2: 30,354,851 (GRCm38) probably null Het
Sis A G 3: 72,914,576 (GRCm38) I1384T possibly damaging Het
Spata31d1a A C 13: 59,702,618 (GRCm38) C565W probably damaging Het
Srbd1 T A 17: 86,127,801 (GRCm38) Q278L probably damaging Het
Sry T C Y: 2,662,625 (GRCm38) H345R unknown Het
Suox A T 10: 128,671,825 (GRCm38) D111E probably damaging Het
Taar7a A T 10: 23,992,828 (GRCm38) F218L probably benign Het
Tfcp2l1 C A 1: 118,664,762 (GRCm38) N288K possibly damaging Het
Tmem128 G T 5: 38,260,421 (GRCm38) R7L possibly damaging Het
Tmem266 A G 9: 55,437,566 (GRCm38) N494S probably damaging Het
Tmprss3 T A 17: 31,193,992 (GRCm38) H80L probably benign Het
Tnrc6c C T 11: 117,749,271 (GRCm38) Q1211* probably null Het
Tns1 T A 1: 73,920,596 (GRCm38) D1671V possibly damaging Het
Trmt1l T A 1: 151,435,704 (GRCm38) probably benign Het
Tshz2 A T 2: 169,884,342 (GRCm38) D286V probably damaging Het
Ttyh2 A G 11: 114,675,659 (GRCm38) E39G probably benign Het
Vmn2r125 G A 4: 156,350,138 (GRCm38) C73Y probably damaging Het
Vmn2r5 T C 3: 64,504,076 (GRCm38) D357G probably damaging Het
Vmn2r61 T C 7: 42,300,487 (GRCm38) F777S probably damaging Het
Vmn2r9 T C 5: 108,847,561 (GRCm38) E407G probably damaging Het
Vwa3a A G 7: 120,780,235 (GRCm38) N521S probably damaging Het
Zan C G 5: 137,391,762 (GRCm38) S4816T unknown Het
Zc3h7b T C 15: 81,771,858 (GRCm38) Y136H possibly damaging Het
Zfp101 T C 17: 33,381,321 (GRCm38) K487R possibly damaging Het
Other mutations in Izumo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02850:Izumo4 APN 10 80,704,198 (GRCm38) unclassified probably benign
IGL03019:Izumo4 APN 10 80,703,846 (GRCm38) unclassified probably benign
IGL03391:Izumo4 APN 10 80,705,113 (GRCm38) missense probably damaging 0.97
F5770:Izumo4 UTSW 10 80,703,891 (GRCm38) missense probably benign 0.02
IGL02835:Izumo4 UTSW 10 80,705,125 (GRCm38) missense probably benign
R0304:Izumo4 UTSW 10 80,702,936 (GRCm38) missense probably damaging 1.00
R0377:Izumo4 UTSW 10 80,702,840 (GRCm38) missense probably damaging 1.00
R0411:Izumo4 UTSW 10 80,703,084 (GRCm38) missense probably damaging 0.99
R0498:Izumo4 UTSW 10 80,704,196 (GRCm38) critical splice donor site probably null
R1822:Izumo4 UTSW 10 80,703,895 (GRCm38) missense probably damaging 1.00
R1870:Izumo4 UTSW 10 80,703,735 (GRCm38) missense probably damaging 1.00
R1977:Izumo4 UTSW 10 80,703,121 (GRCm38) missense probably damaging 1.00
R2237:Izumo4 UTSW 10 80,702,830 (GRCm38) missense probably damaging 1.00
R5288:Izumo4 UTSW 10 80,702,805 (GRCm38) nonsense probably null
R5543:Izumo4 UTSW 10 80,702,834 (GRCm38) missense probably damaging 1.00
R6199:Izumo4 UTSW 10 80,702,873 (GRCm38) missense probably damaging 1.00
R6222:Izumo4 UTSW 10 80,703,051 (GRCm38) missense probably damaging 1.00
R6349:Izumo4 UTSW 10 80,702,717 (GRCm38) start codon destroyed probably null 0.02
R8264:Izumo4 UTSW 10 80,702,738 (GRCm38) missense
V7580:Izumo4 UTSW 10 80,703,891 (GRCm38) missense probably benign 0.02
V7581:Izumo4 UTSW 10 80,703,891 (GRCm38) missense probably benign 0.02
V7582:Izumo4 UTSW 10 80,703,891 (GRCm38) missense probably benign 0.02
V7583:Izumo4 UTSW 10 80,703,891 (GRCm38) missense probably benign 0.02
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-26