Incidental Mutation 'V7582:Izumo4'
ID 152609
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 # V7582 () of strain stinger
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 80538018-80541207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80539725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 155 (T155S)
Ref Sequence ENSEMBL: ENSMUSP00000151397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003438] [ENSMUST00000020420] [ENSMUST00000218090] [ENSMUST00000218184] [ENSMUST00000218610]
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: T152S
SMART Domains Protein: ENSMUSP00000093076
Gene: ENSMUSG00000055862
AA Change: T152S

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: ENSMUST00000218090
Predicted Effect probably benign
Transcript: ENSMUST00000218184
AA Change: T155S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect unknown
Transcript: ENSMUST00000218330
AA Change: T65S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219987
Predicted Effect probably benign
Transcript: ENSMUST00000218610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219746
Meta Mutation Damage Score 0.0762 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik A T 4: 122,595,050 (GRCm39) H102L possibly damaging Het
Ahcy G A 2: 154,906,841 (GRCm39) R151* probably null Het
Atp6v1h A G 1: 5,194,666 (GRCm39) T282A possibly damaging Het
Cdc42bpb C T 12: 111,262,825 (GRCm39) G1501S probably benign Het
Dnajc22 T A 15: 98,999,363 (GRCm39) Y183N probably damaging Het
Dpyd C T 3: 118,690,775 (GRCm39) Q295* probably null Het
Dync2i1 A C 12: 116,175,460 (GRCm39) S906A possibly damaging Het
Erv3 T C 2: 131,697,846 (GRCm39) H171R possibly damaging Het
Fam221b T C 4: 43,665,865 (GRCm39) T249A probably benign Het
Fbrsl1 C T 5: 110,527,292 (GRCm39) A129T possibly damaging Het
Fcgr1 T C 3: 96,191,592 (GRCm39) *405W probably null Het
Gm4787 G A 12: 81,424,341 (GRCm39) Q606* probably null Het
Hira G A 16: 18,713,571 (GRCm39) A29T probably damaging Het
Kcnb2 A G 1: 15,780,315 (GRCm39) I396V probably benign Het
Lpar5 C A 6: 125,058,690 (GRCm39) A137E possibly damaging Het
Lrp4 C T 2: 91,318,863 (GRCm39) S900L possibly damaging Het
Med20 G A 17: 47,929,757 (GRCm39) V65M probably damaging Het
Myrfl T C 10: 116,697,435 (GRCm39) T30A probably damaging Het
Or10j7 G T 1: 173,011,531 (GRCm39) L157I probably benign Het
Otop3 T A 11: 115,235,664 (GRCm39) L432Q probably damaging Het
Papln C T 12: 83,825,608 (GRCm39) R608C possibly damaging Het
Pelp1 T A 11: 70,288,976 (GRCm39) T257S probably damaging Het
Pik3cd A C 4: 149,741,776 (GRCm39) L390R probably damaging Het
Plekhb1 T C 7: 100,303,825 (GRCm39) T112A probably benign Het
Rbbp8nl T A 2: 179,920,001 (GRCm39) T558S probably benign Het
Rundc3b TGCCGCCGCCGCCGCCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCGCCGC 5: 8,672,549 (GRCm39) probably benign Het
Slc30a4 T A 2: 122,531,458 (GRCm39) M136L probably benign Het
Spaca1 T C 4: 34,039,311 (GRCm39) E192G probably damaging Het
Thbd A T 2: 148,249,110 (GRCm39) Y253N probably benign Het
Tiam1 C T 16: 89,662,159 (GRCm39) R653H probably damaging Het
Tnrc6c G A 11: 117,614,152 (GRCm39) R770H probably damaging Het
Toe1 A T 4: 116,663,308 (GRCm39) N56K probably damaging Het
Tprkb A G 6: 85,905,764 (GRCm39) K150E probably damaging Het
Zfp292 C T 4: 34,806,783 (GRCm39) C2087Y possibly damaging Het
Zfp933 G A 4: 147,910,927 (GRCm39) A223V probably damaging 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
IGL02835:Izumo4 UTSW 10 80,540,959 (GRCm39) missense probably benign
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
V7583:Izumo4 UTSW 10 80,539,725 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCAGCGTCACTGTGGTAAGTGAAC -3'
(R):5'- ACAACCTTGGATTCCAGCAGGAAC -3'

Sequencing Primer
(F):5'- TCTGGGGCTGCTTCTCATAT -3'
(R):5'- ACAAGACTTGGTGGTGGGGTA -3'
Posted On 2014-01-29