Incidental Mutation 'IGL02902:Ltn1'
ID 363620
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ltn1
Ensembl Gene ENSMUSG00000052299
Gene Name listerin E3 ubiquitin protein ligase 1
Synonyms Listerin, Zfp294, Rnf160, 4930528H02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02902
Quality Score
Status
Chromosome 16
Chromosomal Location 87173539-87229500 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87176693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1704 (N1704K)
Ref Sequence ENSEMBL: ENSMUSP00000038775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039449]
AlphaFold Q6A009
Predicted Effect possibly damaging
Transcript: ENSMUST00000039449
AA Change: N1704K

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: N1704K

DomainStartEndE-ValueType
low complexity region 160 176 N/A INTRINSIC
low complexity region 400 410 N/A INTRINSIC
low complexity region 509 522 N/A INTRINSIC
low complexity region 553 569 N/A INTRINSIC
low complexity region 815 832 N/A INTRINSIC
low complexity region 1380 1392 N/A INTRINSIC
low complexity region 1427 1451 N/A INTRINSIC
RING 1716 1762 1.05e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Like most RING finger proteins, LTN1 functions as an E3 ubiquitin ligase (Chu et al., 2009 [PubMed 19196968]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for a gene trap allele display embryonic lethality. Mice homozygous for a point mutation display progressive neuron degeneration and age dependent motor deficits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik G T 1: 85,974,087 (GRCm39) V135F possibly damaging Het
Aatk T C 11: 119,902,603 (GRCm39) T541A probably benign Het
Abcc1 T C 16: 14,240,991 (GRCm39) L516P probably damaging Het
Actl6a T A 3: 32,776,791 (GRCm39) V350E possibly damaging Het
Afm A G 5: 90,674,222 (GRCm39) K245E possibly damaging Het
Agr3 T C 12: 35,996,915 (GRCm39) V63A probably damaging Het
Arhgef28 A T 13: 98,083,383 (GRCm39) M1162K probably damaging Het
Casq2 T A 3: 101,994,113 (GRCm39) C53* probably null Het
Ccdc181 T C 1: 164,107,470 (GRCm39) V51A probably benign Het
Cd101 A G 3: 100,926,310 (GRCm39) probably benign Het
Csdc2 T C 15: 81,832,801 (GRCm39) V69A probably benign Het
Cyp2c23 A T 19: 44,009,997 (GRCm39) probably benign Het
Dnph1 A G 17: 46,809,427 (GRCm39) probably benign Het
Egf T C 3: 129,474,796 (GRCm39) T1124A probably benign Het
Gpr45 A G 1: 43,072,371 (GRCm39) E338G possibly damaging Het
Grb14 A C 2: 64,768,762 (GRCm39) L98R probably damaging Het
Gucy1a1 T C 3: 82,026,224 (GRCm39) S77G possibly damaging Het
Helb A G 10: 119,925,390 (GRCm39) S996P probably benign Het
Huwe1 A G X: 150,669,762 (GRCm39) E1405G probably damaging Het
Ifi47 T C 11: 48,986,617 (GRCm39) I128T probably benign Het
Ift140 T A 17: 25,309,736 (GRCm39) Y1089N probably damaging Het
Ift56 A C 6: 38,402,097 (GRCm39) S530R probably benign Het
Il1r1 A T 1: 40,341,569 (GRCm39) H324L probably benign Het
Irx1 C T 13: 72,107,974 (GRCm39) R236H probably benign Het
Itpr3 T C 17: 27,323,530 (GRCm39) V1185A probably benign Het
Kif19a T C 11: 114,676,396 (GRCm39) V450A possibly damaging Het
Krtap21-1 G T 16: 89,200,446 (GRCm39) Y65* probably null Het
Med1 T C 11: 98,047,335 (GRCm39) probably benign Het
Meis2 T A 2: 115,893,804 (GRCm39) H36L probably damaging Het
Mier2 T C 10: 79,385,456 (GRCm39) N124S probably damaging Het
Mmp20 A G 9: 7,654,171 (GRCm39) probably null Het
Muc4 A G 16: 32,569,212 (GRCm39) T91A possibly damaging Het
Myo3b T A 2: 70,119,745 (GRCm39) V935E probably benign Het
Ndufa7 T C 17: 34,048,632 (GRCm39) probably benign Het
Nipal1 A G 5: 72,825,405 (GRCm39) E366G possibly damaging Het
Nobox A T 6: 43,282,617 (GRCm39) N263K probably benign Het
Notch2 A G 3: 98,018,890 (GRCm39) D684G probably damaging Het
Odr4 C A 1: 150,260,179 (GRCm39) probably null Het
Or2t1 A G 14: 14,328,789 (GRCm38) H226R probably benign Het
Or4c12b T A 2: 89,647,508 (GRCm39) Y273* probably null Het
Or5p69 C A 7: 107,967,336 (GRCm39) T213K probably damaging Het
Or5w13 T C 2: 87,523,344 (GRCm39) N294S probably damaging Het
Or6aa1 T C 7: 86,043,743 (GRCm39) probably benign Het
Plau A C 14: 20,889,965 (GRCm39) D270A possibly damaging Het
Pof1b T C X: 111,558,809 (GRCm39) probably null Het
Pramel23 A G 4: 143,424,913 (GRCm39) C177R probably damaging Het
Prtn3 A T 10: 79,717,767 (GRCm39) probably null Het
Ptges3 T A 10: 127,904,616 (GRCm39) D26E probably benign Het
Pxmp2 T C 5: 110,429,160 (GRCm39) E99G probably benign Het
Rasgef1a A G 6: 118,060,068 (GRCm39) R106G probably benign Het
Rnf208 T C 2: 25,133,774 (GRCm39) V156A probably benign Het
Rps6ka1 A T 4: 133,599,292 (GRCm39) I45N possibly damaging Het
Rps6ka4 C T 19: 6,809,623 (GRCm39) probably null Het
Rsbn1 G T 3: 103,860,972 (GRCm39) C466F possibly damaging Het
Shkbp1 A T 7: 27,042,141 (GRCm39) C605S probably damaging Het
Slc2a10 G A 2: 165,360,142 (GRCm39) D531N probably benign Het
Sox13 A G 1: 133,317,204 (GRCm39) L143P probably damaging Het
Stx2 C T 5: 129,069,285 (GRCm39) R142Q probably damaging Het
Tanc1 T A 2: 59,623,431 (GRCm39) probably benign Het
Tubgcp5 C T 7: 55,456,355 (GRCm39) Q316* probably null Het
Ubc A G 5: 125,463,293 (GRCm39) V678A probably benign Het
Unc5d G A 8: 29,365,634 (GRCm39) T117I probably damaging Het
Vmn2r4 T C 3: 64,314,337 (GRCm39) I126V probably benign Het
Zfp410 T A 12: 84,378,594 (GRCm39) probably null Het
Other mutations in Ltn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00328:Ltn1 APN 16 87,215,378 (GRCm39) missense probably benign 0.03
IGL01139:Ltn1 APN 16 87,212,897 (GRCm39) missense probably benign 0.04
IGL01359:Ltn1 APN 16 87,202,581 (GRCm39) splice site probably benign
IGL01503:Ltn1 APN 16 87,217,695 (GRCm39) critical splice donor site probably benign
IGL01529:Ltn1 APN 16 87,178,359 (GRCm39) missense probably benign 0.00
IGL02437:Ltn1 APN 16 87,194,889 (GRCm39) missense probably benign 0.04
IGL02658:Ltn1 APN 16 87,212,662 (GRCm39) missense probably damaging 1.00
IGL02890:Ltn1 APN 16 87,206,185 (GRCm39) splice site probably null
IGL02899:Ltn1 APN 16 87,179,547 (GRCm39) missense probably benign 0.34
IGL03128:Ltn1 APN 16 87,212,832 (GRCm39) missense probably benign 0.00
IGL03392:Ltn1 APN 16 87,222,499 (GRCm39) missense probably damaging 1.00
IGL03046:Ltn1 UTSW 16 87,202,509 (GRCm39) missense probably benign 0.10
PIT4305001:Ltn1 UTSW 16 87,217,211 (GRCm39) missense probably damaging 1.00
PIT4366001:Ltn1 UTSW 16 87,177,728 (GRCm39) nonsense probably null
R0126:Ltn1 UTSW 16 87,222,528 (GRCm39) missense probably benign 0.00
R0164:Ltn1 UTSW 16 87,202,407 (GRCm39) splice site probably benign
R0165:Ltn1 UTSW 16 87,202,407 (GRCm39) splice site probably benign
R0280:Ltn1 UTSW 16 87,194,726 (GRCm39) missense probably damaging 1.00
R0565:Ltn1 UTSW 16 87,212,898 (GRCm39) missense probably benign 0.01
R0733:Ltn1 UTSW 16 87,209,395 (GRCm39) missense probably benign 0.01
R1034:Ltn1 UTSW 16 87,194,025 (GRCm39) splice site probably null
R1252:Ltn1 UTSW 16 87,212,918 (GRCm39) missense probably benign 0.00
R1524:Ltn1 UTSW 16 87,178,444 (GRCm39) missense probably damaging 1.00
R1746:Ltn1 UTSW 16 87,208,669 (GRCm39) missense possibly damaging 0.86
R1826:Ltn1 UTSW 16 87,212,504 (GRCm39) missense probably damaging 1.00
R1831:Ltn1 UTSW 16 87,197,034 (GRCm39) missense possibly damaging 0.94
R1839:Ltn1 UTSW 16 87,213,152 (GRCm39) nonsense probably null
R1860:Ltn1 UTSW 16 87,213,231 (GRCm39) missense probably benign 0.06
R1997:Ltn1 UTSW 16 87,178,525 (GRCm39) missense probably damaging 1.00
R2109:Ltn1 UTSW 16 87,212,530 (GRCm39) missense probably benign 0.03
R2134:Ltn1 UTSW 16 87,179,601 (GRCm39) missense probably damaging 1.00
R2135:Ltn1 UTSW 16 87,179,601 (GRCm39) missense probably damaging 1.00
R2193:Ltn1 UTSW 16 87,224,535 (GRCm39) missense probably damaging 1.00
R2307:Ltn1 UTSW 16 87,229,312 (GRCm39) critical splice donor site probably null
R2376:Ltn1 UTSW 16 87,217,695 (GRCm39) critical splice donor site probably null
R3054:Ltn1 UTSW 16 87,200,961 (GRCm39) missense probably benign 0.32
R3404:Ltn1 UTSW 16 87,213,103 (GRCm39) missense probably damaging 0.98
R3405:Ltn1 UTSW 16 87,213,103 (GRCm39) missense probably damaging 0.98
R3618:Ltn1 UTSW 16 87,217,787 (GRCm39) missense probably damaging 1.00
R4065:Ltn1 UTSW 16 87,213,118 (GRCm39) missense possibly damaging 0.84
R4066:Ltn1 UTSW 16 87,213,118 (GRCm39) missense possibly damaging 0.84
R4067:Ltn1 UTSW 16 87,213,118 (GRCm39) missense possibly damaging 0.84
R4288:Ltn1 UTSW 16 87,194,876 (GRCm39) missense possibly damaging 0.57
R4436:Ltn1 UTSW 16 87,202,502 (GRCm39) missense probably benign 0.17
R4535:Ltn1 UTSW 16 87,223,174 (GRCm39) missense probably damaging 1.00
R4581:Ltn1 UTSW 16 87,198,912 (GRCm39) critical splice donor site probably null
R4669:Ltn1 UTSW 16 87,215,375 (GRCm39) missense possibly damaging 0.90
R4715:Ltn1 UTSW 16 87,215,382 (GRCm39) missense probably damaging 0.98
R4830:Ltn1 UTSW 16 87,176,582 (GRCm39) missense probably damaging 1.00
R4887:Ltn1 UTSW 16 87,195,697 (GRCm39) nonsense probably null
R4961:Ltn1 UTSW 16 87,194,679 (GRCm39) missense probably benign
R4992:Ltn1 UTSW 16 87,202,475 (GRCm39) missense possibly damaging 0.70
R5073:Ltn1 UTSW 16 87,224,628 (GRCm39) missense probably damaging 0.99
R5288:Ltn1 UTSW 16 87,212,899 (GRCm39) missense possibly damaging 0.80
R5802:Ltn1 UTSW 16 87,212,569 (GRCm39) missense probably benign 0.17
R5907:Ltn1 UTSW 16 87,178,391 (GRCm39) missense possibly damaging 0.94
R6180:Ltn1 UTSW 16 87,224,677 (GRCm39) missense probably damaging 1.00
R6194:Ltn1 UTSW 16 87,212,698 (GRCm39) missense probably damaging 1.00
R6257:Ltn1 UTSW 16 87,208,662 (GRCm39) missense possibly damaging 0.74
R6301:Ltn1 UTSW 16 87,217,194 (GRCm39) missense probably benign
R6481:Ltn1 UTSW 16 87,175,868 (GRCm39) missense probably damaging 1.00
R6525:Ltn1 UTSW 16 87,217,074 (GRCm39) missense probably damaging 1.00
R6958:Ltn1 UTSW 16 87,194,679 (GRCm39) missense probably benign
R6969:Ltn1 UTSW 16 87,212,578 (GRCm39) missense probably damaging 1.00
R7002:Ltn1 UTSW 16 87,220,361 (GRCm39) missense probably benign
R7038:Ltn1 UTSW 16 87,221,759 (GRCm39) missense probably damaging 1.00
R7062:Ltn1 UTSW 16 87,224,491 (GRCm39) missense probably damaging 0.98
R7152:Ltn1 UTSW 16 87,224,529 (GRCm39) missense probably damaging 1.00
R7180:Ltn1 UTSW 16 87,215,382 (GRCm39) missense probably damaging 0.98
R7247:Ltn1 UTSW 16 87,206,275 (GRCm39) missense probably benign 0.00
R7454:Ltn1 UTSW 16 87,194,700 (GRCm39) missense probably benign 0.03
R7471:Ltn1 UTSW 16 87,194,787 (GRCm39) missense probably benign
R7511:Ltn1 UTSW 16 87,205,716 (GRCm39) missense possibly damaging 0.63
R7691:Ltn1 UTSW 16 87,195,574 (GRCm39) missense probably damaging 0.99
R7702:Ltn1 UTSW 16 87,223,166 (GRCm39) missense probably damaging 1.00
R7761:Ltn1 UTSW 16 87,208,681 (GRCm39) missense probably benign
R8002:Ltn1 UTSW 16 87,212,835 (GRCm39) missense probably benign 0.17
R8101:Ltn1 UTSW 16 87,215,385 (GRCm39) missense probably damaging 1.00
R8142:Ltn1 UTSW 16 87,178,529 (GRCm39) missense probably benign 0.21
R8214:Ltn1 UTSW 16 87,177,691 (GRCm39) missense probably benign 0.02
R8674:Ltn1 UTSW 16 87,195,673 (GRCm39) missense probably benign
R8783:Ltn1 UTSW 16 87,207,247 (GRCm39) missense probably benign 0.30
R8839:Ltn1 UTSW 16 87,215,390 (GRCm39) missense probably damaging 1.00
R8885:Ltn1 UTSW 16 87,178,433 (GRCm39) missense probably damaging 1.00
R8889:Ltn1 UTSW 16 87,229,230 (GRCm39) intron probably benign
R8892:Ltn1 UTSW 16 87,229,230 (GRCm39) intron probably benign
R8919:Ltn1 UTSW 16 87,178,381 (GRCm39) missense probably damaging 0.98
R8970:Ltn1 UTSW 16 87,212,926 (GRCm39) missense probably benign
R9113:Ltn1 UTSW 16 87,224,532 (GRCm39) missense probably damaging 1.00
R9206:Ltn1 UTSW 16 87,197,298 (GRCm39) missense probably benign 0.00
R9208:Ltn1 UTSW 16 87,197,298 (GRCm39) missense probably benign 0.00
R9234:Ltn1 UTSW 16 87,194,089 (GRCm39) missense probably damaging 0.98
R9421:Ltn1 UTSW 16 87,215,375 (GRCm39) missense possibly damaging 0.90
R9558:Ltn1 UTSW 16 87,220,295 (GRCm39) missense probably benign 0.05
R9654:Ltn1 UTSW 16 87,207,227 (GRCm39) missense probably benign 0.00
R9738:Ltn1 UTSW 16 87,222,524 (GRCm39) missense probably damaging 1.00
X0028:Ltn1 UTSW 16 87,199,022 (GRCm39) missense probably benign 0.01
Z1177:Ltn1 UTSW 16 87,198,925 (GRCm39) missense probably benign
Posted On 2015-12-18