Incidental Mutation 'IGL02835:Izumo4'
ID 391986
Institutional Source Beutler Lab
Gene Symbol Izumo4
Ensembl Gene ENSMUSG00000055862
Gene Name IZUMO family member 4
Synonyms 9030607L17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02835 (G1)
Quality Score 224
Status Validated
Chromosome 10
Chromosomal Location 80538018-80541207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80540959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 220 (V220I)
Ref Sequence ENSEMBL: ENSMUSP00000151397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003438] [ENSMUST00000020420] [ENSMUST00000218184] [ENSMUST00000218610] [ENSMUST00000218090]
AlphaFold D3Z690
Predicted Effect probably benign
Transcript: ENSMUST00000003438
SMART Domains Protein: ENSMUSP00000003438
Gene: ENSMUSG00000003348

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

DomainStartEndE-ValueType
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: V201I
SMART Domains Protein: ENSMUSP00000093076
Gene: ENSMUSG00000055862
AA Change: V201I

DomainStartEndE-ValueType
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: ENSMUST00000218184
AA Change: V220I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219986
Predicted Effect probably benign
Transcript: ENSMUST00000218610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219746
Predicted Effect probably benign
Transcript: ENSMUST00000218090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218439
Predicted Effect probably benign
Transcript: ENSMUST00000218330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219987
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T A 8: 79,937,284 (GRCm39) K208* probably null Het
A530016L24Rik A C 12: 112,461,420 (GRCm39) probably null Het
A830018L16Rik A C 1: 12,042,279 (GRCm39) D433A possibly damaging Het
Abca13 T A 11: 9,401,515 (GRCm39) I3985N probably damaging Het
Abhd17c C T 7: 83,800,731 (GRCm39) D108N probably benign Het
Adam29 C T 8: 56,326,173 (GRCm39) D94N probably damaging Het
Agr2 A G 12: 36,045,903 (GRCm39) D50G probably benign Het
Angptl1 A G 1: 156,686,090 (GRCm39) D392G probably benign Het
Apob A G 12: 8,065,097 (GRCm39) N3989S possibly damaging Het
AU018091 T C 7: 3,218,897 (GRCm39) D12G unknown Het
Cyfip2 A T 11: 46,140,598 (GRCm39) S742T probably benign Het
Dlc1 C T 8: 37,051,055 (GRCm39) S892N probably damaging Het
Dsg1b A G 18: 20,525,071 (GRCm39) N169S possibly damaging Het
Egfem1 T C 3: 29,711,390 (GRCm39) L323P probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fjx1 G A 2: 102,281,092 (GRCm39) A281V possibly damaging Het
Fmn2 T A 1: 174,409,625 (GRCm39) D619E unknown Het
Gm4795 A C 10: 44,882,254 (GRCm39) noncoding transcript Het
Gm5117 T C 8: 32,227,198 (GRCm39) noncoding transcript Het
Gm5250 T C 1: 13,132,418 (GRCm39) noncoding transcript Het
Gtdc1 A T 2: 44,646,324 (GRCm39) Y101* probably null Het
Herc6 T C 6: 57,623,146 (GRCm39) I583T possibly damaging Het
Hyal4 G A 6: 24,765,714 (GRCm39) R356H probably benign Het
Il22ra2 C A 10: 19,502,424 (GRCm39) T81K probably benign Het
Iqcm T A 8: 76,281,511 (GRCm39) probably benign Het
Kif16b A T 2: 142,554,133 (GRCm39) D899E probably benign Het
Lrp2 A T 2: 69,335,648 (GRCm39) N1358K probably damaging Het
Lrrk2 A G 15: 91,698,863 (GRCm39) probably null Het
Lyst C T 13: 13,835,685 (GRCm39) T1789M possibly damaging Het
Map4k4 A G 1: 40,049,760 (GRCm39) T732A probably damaging Het
Mdh1b A T 1: 63,757,816 (GRCm39) I305N probably damaging Het
Mettl13 A G 1: 162,373,585 (GRCm39) I222T probably damaging Het
Mtcl2 G A 2: 156,883,854 (GRCm39) T363I possibly damaging Het
Muc4 T C 16: 32,584,319 (GRCm39) F2583L probably benign Het
Nbea C T 3: 55,625,290 (GRCm39) R2267Q possibly damaging Het
Ndfip1 T C 18: 38,589,144 (GRCm39) Y178H probably damaging Het
Nin A T 12: 70,103,512 (GRCm39) F243I probably damaging Het
Nlrp10 A T 7: 108,523,869 (GRCm39) I537K possibly damaging Het
Nup155 T C 15: 8,172,614 (GRCm39) Y867H probably damaging Het
Pakap C G 4: 57,883,044 (GRCm39) P837A probably damaging Het
Pik3r4 A C 9: 105,549,905 (GRCm39) I999L probably benign Het
Pitpnm3 G A 11: 71,952,292 (GRCm39) probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polg2 A T 11: 106,666,266 (GRCm39) V293E probably benign Het
Pramel22 T A 4: 143,380,817 (GRCm39) Y402F probably damaging Het
Prok1 T C 3: 107,144,531 (GRCm39) probably null Het
Ptcd1 T C 5: 145,091,500 (GRCm39) D533G possibly damaging Het
Ptpn13 T C 5: 103,707,891 (GRCm39) V1484A probably damaging Het
Rapgef2 A T 3: 79,000,293 (GRCm39) probably benign Het
Serpinb8 T G 1: 107,530,586 (GRCm39) F121L probably damaging Het
Sh3rf1 T A 8: 61,679,081 (GRCm39) V41E probably damaging Het
Snx13 A G 12: 35,182,126 (GRCm39) N725S possibly damaging Het
Stab1 A T 14: 30,867,981 (GRCm39) probably null Het
Themis A T 10: 28,637,616 (GRCm39) probably benign Het
Trim68 T A 7: 102,327,780 (GRCm39) Y391F probably benign Het
Trmt1 T G 8: 85,423,589 (GRCm39) V327G probably null Het
Vill C T 9: 118,896,513 (GRCm39) T120M probably benign Het
Other mutations in Izumo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02850:Izumo4 APN 10 80,540,032 (GRCm39) unclassified probably benign
IGL03019:Izumo4 APN 10 80,539,680 (GRCm39) unclassified probably benign
IGL03391:Izumo4 APN 10 80,540,947 (GRCm39) missense probably damaging 0.97
F5770:Izumo4 UTSW 10 80,539,725 (GRCm39) missense probably benign 0.02
R0304:Izumo4 UTSW 10 80,538,770 (GRCm39) missense probably damaging 1.00
R0377:Izumo4 UTSW 10 80,538,674 (GRCm39) missense probably damaging 1.00
R0411:Izumo4 UTSW 10 80,538,918 (GRCm39) missense probably damaging 0.99
R0498:Izumo4 UTSW 10 80,540,030 (GRCm39) critical splice donor site probably null
R1822:Izumo4 UTSW 10 80,539,729 (GRCm39) missense probably damaging 1.00
R1870:Izumo4 UTSW 10 80,539,569 (GRCm39) missense probably damaging 1.00
R1977:Izumo4 UTSW 10 80,538,955 (GRCm39) missense probably damaging 1.00
R2237:Izumo4 UTSW 10 80,538,664 (GRCm39) missense probably damaging 1.00
R5288:Izumo4 UTSW 10 80,538,639 (GRCm39) nonsense probably null
R5543:Izumo4 UTSW 10 80,538,668 (GRCm39) missense probably damaging 1.00
R5587:Izumo4 UTSW 10 80,539,054 (GRCm39) missense probably damaging 1.00
R6199:Izumo4 UTSW 10 80,538,707 (GRCm39) missense probably damaging 1.00
R6222:Izumo4 UTSW 10 80,538,885 (GRCm39) missense probably damaging 1.00
R6349:Izumo4 UTSW 10 80,538,551 (GRCm39) start codon destroyed probably null 0.02
R8264:Izumo4 UTSW 10 80,538,572 (GRCm39) missense
V7580:Izumo4 UTSW 10 80,539,725 (GRCm39) missense probably benign 0.02
V7581:Izumo4 UTSW 10 80,539,725 (GRCm39) missense probably benign 0.02
V7582:Izumo4 UTSW 10 80,539,725 (GRCm39) missense probably benign 0.02
V7583:Izumo4 UTSW 10 80,539,725 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TATCCCACTGGCACACTTTAG -3'
(R):5'- AATATCTCAGAGGGCCCTGC -3'

Sequencing Primer
(F):5'- GACTAGGTGTAGCAATGCATTCC -3'
(R):5'- GGGTTCCCCACTATCTTACACAAAC -3'
Posted On 2016-06-08