Incidental Mutation 'R6349:Izumo4'
ID 512448
Institutional Source Beutler Lab
Gene Symbol Izumo4
Ensembl Gene ENSMUSG00000055862
Gene Name IZUMO family member 4
Synonyms 9030607L17Rik
MMRRC Submission 044503-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6349 (G1)
Quality Score 89.0077
Status Not validated
Chromosome 10
Chromosomal Location 80538018-80541207 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 80538551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000151397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003438] [ENSMUST00000020420] [ENSMUST00000218184] [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 probably null
Transcript: ENSMUST00000095426
SMART Domains Protein: ENSMUSP00000093076
Gene: ENSMUSG00000055862

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 null
Transcript: ENSMUST00000218184
AA Change: M1K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000218330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218439
Predicted Effect probably benign
Transcript: ENSMUST00000218090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219986
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012A03Rik A G 6: 32,028,595 (GRCm39) Y9C probably benign Het
4930433I11Rik A C 7: 40,644,196 (GRCm39) M622L possibly damaging Het
Abca8b C T 11: 109,825,544 (GRCm39) probably null Het
Adam28 T C 14: 68,870,621 (GRCm39) I351V probably benign Het
Adgrd1 A C 5: 129,219,603 (GRCm39) probably null Het
Ank3 T A 10: 69,815,269 (GRCm39) I473N probably damaging Het
Ankrd6 A T 4: 32,822,231 (GRCm39) H179Q probably damaging Het
Ano6 A G 15: 95,863,903 (GRCm39) R808G probably damaging Het
Anxa8 A T 14: 33,819,850 (GRCm39) I280F probably damaging Het
Asb2 C T 12: 103,312,118 (GRCm39) M1I probably null Het
Astn1 C T 1: 158,491,691 (GRCm39) Q1023* probably null Het
Cast T A 13: 74,869,314 (GRCm39) E542D probably damaging Het
Ccdc162 C T 10: 41,570,396 (GRCm39) E30K probably damaging Het
Ccdc87 T C 19: 4,891,347 (GRCm39) V613A probably damaging Het
Cdk13 T C 13: 17,926,304 (GRCm39) N832S probably damaging Het
Celsr1 T A 15: 85,915,885 (GRCm39) N696I probably damaging Het
Chd3 T C 11: 69,254,857 (GRCm39) E161G possibly damaging Het
Cxcr4 C A 1: 128,517,014 (GRCm39) V216F possibly damaging Het
Cyp4a10 A G 4: 115,382,555 (GRCm39) I282V probably benign Het
Deaf1 T C 7: 140,902,863 (GRCm39) T154A possibly damaging Het
Dido1 A T 2: 180,302,494 (GRCm39) D1803E probably benign Het
Dmxl2 T C 9: 54,327,193 (GRCm39) D944G possibly damaging Het
Dnah5 G A 15: 28,238,657 (GRCm39) V400M probably damaging Het
Fbxo15 A G 18: 84,982,267 (GRCm39) I240V probably benign Het
Fcrl2 A G 3: 87,159,803 (GRCm39) C484R probably damaging Het
Fech G T 18: 64,603,856 (GRCm39) Y164* probably null Het
Fer1l5 T A 1: 36,450,355 (GRCm39) W1175R probably damaging Het
Fgfrl1 T C 5: 108,853,372 (GRCm39) Y241H probably damaging Het
Flvcr2 T C 12: 85,793,974 (GRCm39) Y117H probably benign Het
Fsip2 T A 2: 82,823,416 (GRCm39) M6383K probably benign Het
Gcc2 T A 10: 58,105,296 (GRCm39) D141E probably benign Het
Glt1d1 A C 5: 127,783,950 (GRCm39) R301S probably benign Het
Hars1 G C 18: 36,916,107 (GRCm39) A16G probably benign Het
Hmcn2 G T 2: 31,278,385 (GRCm39) G1696C probably damaging Het
Hydin T A 8: 111,145,091 (GRCm39) L814* probably null Het
Kdm5d T A Y: 916,847 (GRCm39) M414K probably damaging Homo
Kif21b G A 1: 136,086,064 (GRCm39) V812I probably damaging Het
Map3k7 A G 4: 31,988,661 (GRCm39) D270G possibly damaging Het
Mical3 A G 6: 120,936,486 (GRCm39) S1347P probably benign Het
Mras T A 9: 99,276,669 (GRCm39) D67V probably damaging Het
Mtnr1b A T 9: 15,774,509 (GRCm39) Y183* probably null Het
Muc16 A T 9: 18,568,625 (GRCm39) L1298Q unknown Het
Myh2 A T 11: 67,083,829 (GRCm39) I1536F probably benign Het
Or7c19 T C 8: 85,957,787 (GRCm39) I221T possibly damaging Het
Osmr G T 15: 6,850,544 (GRCm39) D686E probably benign Het
Pah T A 10: 87,414,831 (GRCm39) D394E probably benign Het
Pla1a T A 16: 38,237,486 (GRCm39) S71C probably benign Het
Proc T A 18: 32,266,486 (GRCm39) I114L probably benign Het
Psd T G 19: 46,301,826 (GRCm39) probably null Het
Psmb6 C T 11: 70,418,364 (GRCm39) Q226* probably null Het
Rnpepl1 A T 1: 92,847,563 (GRCm39) N717Y probably damaging Het
Rundc1 T C 11: 101,324,988 (GRCm39) S565P probably benign Het
Serpinb5 T A 1: 106,809,495 (GRCm39) S300R probably benign Het
Serpinf2 T C 11: 75,323,257 (GRCm39) D483G probably damaging Het
Sgsm3 T C 15: 80,892,547 (GRCm39) I291T probably benign Het
Smg6 T A 11: 74,944,600 (GRCm39) D116E possibly damaging Het
Srfbp1 G T 18: 52,622,034 (GRCm39) S365I probably benign Het
Stkld1 A G 2: 26,835,872 (GRCm39) T236A probably benign Het
Susd5 T C 9: 113,924,870 (GRCm39) V251A probably benign Het
Tcf25 A G 8: 124,118,332 (GRCm39) Y314C probably damaging Het
Tmem210 A G 2: 25,179,048 (GRCm39) D112G possibly damaging Het
Tubb2b A G 13: 34,311,528 (GRCm39) Y422H probably damaging Het
Tyw1 T C 5: 130,305,872 (GRCm39) S332P possibly damaging Het
Vmn1r29 A C 6: 58,284,412 (GRCm39) Q44P probably damaging Het
Vrtn T C 12: 84,695,792 (GRCm39) S181P probably damaging Het
Wdr76 T A 2: 121,364,712 (GRCm39) Y437N possibly damaging Het
Zc3h18 C A 8: 123,135,025 (GRCm39) probably benign Het
Zfp287 G T 11: 62,616,168 (GRCm39) D174E probably damaging Het
Zfp800 A T 6: 28,244,601 (GRCm39) Y121* probably null Het
Zfyve19 T A 2: 119,041,078 (GRCm39) L57Q 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
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'- TGGGACAGGAGTCTAATCGG -3'
(R):5'- TCGTGTTCTGGATCCAATCGG -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TCCAATCGGAGAGCAGCATC -3'
Posted On 2018-04-27