Incidental Mutation 'IGL03209:Lvrn'
ID 413215
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lvrn
Ensembl Gene ENSMUSG00000024481
Gene Name laeverin
Synonyms 4833403I15Rik, Aqpep
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.374) question?
Stock # IGL03209
Quality Score
Status
Chromosome 18
Chromosomal Location 46983105-47040309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47022565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 734 (I734V)
Ref Sequence ENSEMBL: ENSMUSP00000025358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025358]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025358
AA Change: I734V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025358
Gene: ENSMUSG00000024481
AA Change: I734V

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Peptidase_M1 94 504 1.6e-110 PFAM
Pfam:ERAP1_C 645 968 2.5e-60 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 C T 2: 26,882,973 (GRCm39) A841V probably benign Het
Alms1 A G 6: 85,576,955 (GRCm39) probably benign Het
Arc A T 15: 74,543,833 (GRCm39) L130Q probably damaging Het
Arhgap28 C T 17: 68,175,951 (GRCm39) V383I probably damaging Het
Atf6 T C 1: 170,662,463 (GRCm39) S266G probably benign Het
Cd59b A G 2: 103,914,905 (GRCm39) E101G probably benign Het
Cdc26 T C 4: 62,313,251 (GRCm39) K30R possibly damaging Het
Clns1a A G 7: 97,360,937 (GRCm39) D103G probably null Het
Crispld2 C A 8: 120,757,837 (GRCm39) A394E possibly damaging Het
Cyp51 A T 5: 4,154,195 (GRCm39) L38H probably damaging Het
Dnah7a T G 1: 53,725,773 (GRCm39) probably benign Het
Fbxw2 T C 2: 34,712,675 (GRCm39) R129G probably damaging Het
Fgd3 T C 13: 49,439,294 (GRCm39) Q234R probably damaging Het
Gdpgp1 A G 7: 79,888,847 (GRCm39) T293A probably damaging Het
Hspa12a T G 19: 58,810,493 (GRCm39) probably null Het
Ier5l G T 2: 30,363,067 (GRCm39) D319E possibly damaging Het
Iigp1c T A 18: 60,379,143 (GRCm39) I226N probably damaging Het
Ikzf1 T C 11: 11,650,226 (GRCm39) V3A probably benign Het
Itga2 T C 13: 115,017,168 (GRCm39) N180D probably damaging Het
Lipt1 T C 1: 37,914,150 (GRCm39) S69P probably damaging Het
Man2c1 A G 9: 57,049,114 (GRCm39) T871A probably benign Het
Ndufs1 A T 1: 63,203,896 (GRCm39) C129S probably damaging Het
Neb A T 2: 52,180,831 (GRCm39) F1232I probably damaging Het
Ngly1 T A 14: 16,281,831 (GRCm38) Y362* probably null Het
Or2h2c A T 17: 37,422,413 (GRCm39) S154T probably benign Het
Or5ak23 A T 2: 85,244,723 (GRCm39) S167T probably benign Het
Patj A G 4: 98,353,377 (GRCm39) D640G probably null Het
Plxnd1 A T 6: 115,939,318 (GRCm39) M1502K probably damaging Het
Sccpdh T C 1: 179,514,238 (GRCm39) V429A possibly damaging Het
Slc25a48 T C 13: 56,618,272 (GRCm39) V303A probably benign Het
Sult2a6 T C 7: 13,959,897 (GRCm39) D212G probably benign Het
Tep1 A T 14: 51,078,160 (GRCm39) probably benign Het
Tmem65 A G 15: 58,656,751 (GRCm39) probably benign Het
Togaram2 T C 17: 72,002,740 (GRCm39) probably null Het
Trim36 T C 18: 46,300,575 (GRCm39) T687A probably benign Het
Unc13b T A 4: 43,239,351 (GRCm39) D3471E probably damaging Het
Urgcp T C 11: 5,667,238 (GRCm39) probably null Het
Zfhx4 A T 3: 5,466,231 (GRCm39) I2155F probably damaging Het
Zfp831 T A 2: 174,487,059 (GRCm39) V578E probably benign Het
Other mutations in Lvrn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Lvrn APN 18 46,997,733 (GRCm39) splice site probably benign
IGL01532:Lvrn APN 18 47,033,551 (GRCm39) missense probably damaging 1.00
IGL02430:Lvrn APN 18 47,027,797 (GRCm39) missense probably benign 0.03
IGL02573:Lvrn APN 18 47,010,016 (GRCm39) missense probably damaging 0.98
IGL02592:Lvrn APN 18 46,983,658 (GRCm39) missense probably damaging 1.00
IGL02754:Lvrn APN 18 47,023,971 (GRCm39) nonsense probably null
IGL03089:Lvrn APN 18 47,013,776 (GRCm39) missense probably damaging 0.99
IGL03333:Lvrn APN 18 46,997,731 (GRCm39) splice site probably benign
IGL03098:Lvrn UTSW 18 47,014,477 (GRCm39) critical splice acceptor site probably null
R0319:Lvrn UTSW 18 46,997,820 (GRCm39) missense probably damaging 1.00
R0391:Lvrn UTSW 18 46,983,533 (GRCm39) missense probably benign 0.01
R0398:Lvrn UTSW 18 47,013,760 (GRCm39) missense probably benign 0.06
R0432:Lvrn UTSW 18 47,038,366 (GRCm39) missense possibly damaging 0.94
R0456:Lvrn UTSW 18 46,997,883 (GRCm39) critical splice donor site probably null
R1458:Lvrn UTSW 18 47,015,452 (GRCm39) splice site probably benign
R1612:Lvrn UTSW 18 47,027,770 (GRCm39) missense probably damaging 0.99
R1935:Lvrn UTSW 18 47,011,387 (GRCm39) missense probably benign 0.10
R1936:Lvrn UTSW 18 47,011,387 (GRCm39) missense probably benign 0.10
R1959:Lvrn UTSW 18 47,027,784 (GRCm39) missense probably damaging 1.00
R2000:Lvrn UTSW 18 47,038,374 (GRCm39) missense probably benign 0.04
R2022:Lvrn UTSW 18 46,999,503 (GRCm39) missense possibly damaging 0.81
R2106:Lvrn UTSW 18 47,011,356 (GRCm39) missense probably damaging 1.00
R2197:Lvrn UTSW 18 47,011,409 (GRCm39) missense probably benign 0.03
R2371:Lvrn UTSW 18 47,011,230 (GRCm39) splice site probably null
R4125:Lvrn UTSW 18 47,010,036 (GRCm39) missense possibly damaging 0.53
R4606:Lvrn UTSW 18 46,997,832 (GRCm39) missense possibly damaging 0.92
R4830:Lvrn UTSW 18 47,038,418 (GRCm39) missense probably damaging 1.00
R4866:Lvrn UTSW 18 47,026,768 (GRCm39) missense probably damaging 1.00
R4900:Lvrn UTSW 18 47,014,479 (GRCm39) missense probably damaging 1.00
R4900:Lvrn UTSW 18 47,026,768 (GRCm39) missense probably damaging 1.00
R4924:Lvrn UTSW 18 47,027,792 (GRCm39) missense probably damaging 1.00
R4948:Lvrn UTSW 18 47,013,803 (GRCm39) missense probably damaging 1.00
R5167:Lvrn UTSW 18 47,013,814 (GRCm39) missense probably damaging 0.99
R5527:Lvrn UTSW 18 47,006,870 (GRCm39) missense probably damaging 1.00
R5581:Lvrn UTSW 18 47,023,932 (GRCm39) missense probably benign 0.17
R5615:Lvrn UTSW 18 46,983,395 (GRCm39) missense possibly damaging 0.55
R5859:Lvrn UTSW 18 47,026,816 (GRCm39) missense probably damaging 1.00
R6149:Lvrn UTSW 18 47,017,499 (GRCm39) missense probably benign 0.10
R6183:Lvrn UTSW 18 46,983,752 (GRCm39) missense probably benign 0.14
R6378:Lvrn UTSW 18 47,028,024 (GRCm39) missense probably benign 0.00
R6838:Lvrn UTSW 18 47,023,947 (GRCm39) missense possibly damaging 0.88
R6993:Lvrn UTSW 18 47,015,365 (GRCm39) missense probably benign 0.18
R7017:Lvrn UTSW 18 46,983,745 (GRCm39) missense probably benign 0.00
R7168:Lvrn UTSW 18 47,014,389 (GRCm39) missense probably benign 0.29
R7190:Lvrn UTSW 18 47,033,570 (GRCm39) missense probably benign 0.02
R7315:Lvrn UTSW 18 47,010,051 (GRCm39) missense probably benign 0.34
R8293:Lvrn UTSW 18 46,983,632 (GRCm39) missense possibly damaging 0.75
R8375:Lvrn UTSW 18 46,983,289 (GRCm39) missense probably damaging 0.98
R9563:Lvrn UTSW 18 47,017,506 (GRCm39) missense probably damaging 1.00
R9564:Lvrn UTSW 18 47,017,506 (GRCm39) missense probably damaging 1.00
R9565:Lvrn UTSW 18 47,017,506 (GRCm39) missense probably damaging 1.00
R9585:Lvrn UTSW 18 47,011,411 (GRCm39) critical splice donor site probably null
R9599:Lvrn UTSW 18 46,999,494 (GRCm39) missense probably benign 0.37
R9694:Lvrn UTSW 18 47,033,609 (GRCm39) missense probably damaging 1.00
R9709:Lvrn UTSW 18 47,006,847 (GRCm39) critical splice acceptor site probably null
Posted On 2016-08-02