Incidental Mutation 'R6180:Ltn1'
ID 488038
Institutional Source Beutler Lab
Gene Symbol Ltn1
Ensembl Gene ENSMUSG00000052299
Gene Name listerin E3 ubiquitin protein ligase 1
Synonyms Listerin, Zfp294, Rnf160, 4930528H02Rik
MMRRC Submission 044322-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6180 (G1)
Quality Score 211.009
Status Not validated
Chromosome 16
Chromosomal Location 87173539-87229500 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87224677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 16 (S16T)
Ref Sequence ENSEMBL: ENSMUSP00000156299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039449] [ENSMUST00000232095]
AlphaFold Q6A009
Predicted Effect probably damaging
Transcript: ENSMUST00000039449
AA Change: S16T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: S16T

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
Predicted Effect probably damaging
Transcript: ENSMUST00000232095
AA Change: S16T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 A G 8: 41,279,610 (GRCm39) N667S probably benign Het
Ap4e1 T A 2: 126,908,508 (GRCm39) C1085* probably null Het
BC035044 A T 6: 128,861,997 (GRCm39) probably benign Het
Bltp2 A G 11: 78,164,084 (GRCm39) M1142V possibly damaging Het
Capn11 T C 17: 45,941,692 (GRCm39) D693G probably damaging Het
Cavin4 A T 4: 48,663,917 (GRCm39) H99L possibly damaging Het
Ccdc86 T C 19: 10,925,945 (GRCm39) K218R possibly damaging Het
Ccno T C 13: 113,126,379 (GRCm39) S283P probably damaging Het
Ccser2 A T 14: 36,662,276 (GRCm39) S303T probably benign Het
Cd53 T A 3: 106,674,680 (GRCm39) N129I probably damaging Het
Cd63 G A 10: 128,747,933 (GRCm39) probably null Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Daam2 A G 17: 49,776,694 (GRCm39) M797T probably damaging Het
Dennd2b A C 7: 109,156,095 (GRCm39) D218E probably benign Het
Dmgdh G A 13: 93,888,794 (GRCm39) V811I possibly damaging Het
Dpysl4 A T 7: 138,670,250 (GRCm39) T123S probably damaging Het
Erap1 A G 13: 74,814,345 (GRCm39) E428G possibly damaging Het
Fam124b T A 1: 80,177,902 (GRCm39) T366S possibly damaging Het
Fbxw22 T C 9: 109,215,747 (GRCm39) D167G probably damaging Het
Flrt2 C T 12: 95,746,012 (GRCm39) Q117* probably null Het
Ftsj3 A T 11: 106,144,166 (GRCm39) probably null Het
Ggn A G 7: 28,872,474 (GRCm39) Y618C probably damaging Het
Glis1 T A 4: 107,484,710 (GRCm39) S402T probably benign Het
Gm4781 T A 10: 100,232,349 (GRCm39) noncoding transcript Het
Gm7168 T A 17: 14,168,858 (GRCm39) I75K probably damaging Het
Gm7298 C T 6: 121,737,782 (GRCm39) H348Y probably benign Het
Gria1 G T 11: 57,133,618 (GRCm39) R499L probably damaging Het
Gtf2ird2 C T 5: 134,245,389 (GRCm39) T549M probably damaging Het
H2-M10.6 T A 17: 37,125,178 (GRCm39) V323E probably damaging Het
Hoxb3 G A 11: 96,236,929 (GRCm39) V336I probably benign Het
Il12b G A 11: 44,303,453 (GRCm39) A327T probably benign Het
Inpp4a C A 1: 37,419,183 (GRCm39) P588T probably benign Het
Kctd12 C A 14: 103,219,027 (GRCm39) D284Y probably damaging Het
Kif28 C A 1: 179,525,337 (GRCm39) probably null Het
Krt1c T C 15: 101,723,479 (GRCm39) N332S probably benign Het
Lama2 G A 10: 26,857,495 (GRCm39) T3118I probably benign Het
Lgi1 T C 19: 38,253,404 (GRCm39) L25P probably damaging Het
Lhx3 T A 2: 26,091,503 (GRCm39) M269L probably benign Het
Lmtk2 A T 5: 144,112,160 (GRCm39) E960V probably damaging Het
Loxl4 A T 19: 42,596,791 (GRCm39) D60E probably damaging Het
Lrp2 T A 2: 69,333,868 (GRCm39) N1458Y possibly damaging Het
Mllt6 G A 11: 97,569,362 (GRCm39) A875T possibly damaging Het
Mrgprb4 A T 7: 47,848,574 (GRCm39) I118N probably damaging Het
Mrps7 A G 11: 115,495,707 (GRCm39) T82A possibly damaging Het
Mug2 A G 6: 122,056,565 (GRCm39) E1170G probably benign Het
Nav2 A G 7: 49,107,915 (GRCm39) H647R probably benign Het
Nbeal2 T C 9: 110,454,215 (GRCm39) Y2710C probably damaging Het
Ndc1 A T 4: 107,268,395 (GRCm39) I644L possibly damaging Het
Or4c108 T G 2: 88,804,226 (GRCm39) N3T probably damaging Het
Or8g33 A T 9: 39,338,008 (GRCm39) Y120N probably damaging Het
Padi4 A G 4: 140,483,784 (GRCm39) M352T possibly damaging Het
Pals1 C T 12: 78,864,084 (GRCm39) H216Y probably benign Het
Pcdhgc3 C A 18: 37,939,990 (GRCm39) D130E probably damaging Het
Pde6a A T 18: 61,417,163 (GRCm39) probably null Het
Pdpn C T 4: 143,025,792 (GRCm39) G12R probably damaging Het
Pot1a A T 6: 25,771,620 (GRCm39) D200E probably benign Het
Ppa1 A T 10: 61,503,431 (GRCm39) D236V probably benign Het
Ptprn2 T A 12: 116,822,739 (GRCm39) S273T probably benign Het
Rasgrf2 T C 13: 92,165,609 (GRCm39) E297G probably damaging Het
Rgl1 T C 1: 152,394,923 (GRCm39) N750S probably damaging Het
Rinl A G 7: 28,496,365 (GRCm39) N449D probably benign Het
Samd8 T A 14: 21,825,093 (GRCm39) H79Q probably benign Het
Scn11a T C 9: 119,583,933 (GRCm39) I1561V probably benign Het
Slc39a12 T C 2: 14,400,938 (GRCm39) L105P probably benign Het
Slc7a12 A T 3: 14,546,200 (GRCm39) probably null Het
Slco1a4 A G 6: 141,763,546 (GRCm39) I390T possibly damaging Het
Snta1 T C 2: 154,219,102 (GRCm39) N411S probably benign Het
Srgap2 T C 1: 131,277,279 (GRCm39) T323A probably benign Het
Ssh2 G T 11: 77,344,291 (GRCm39) V759L probably benign Het
Swap70 G T 7: 109,869,188 (GRCm39) R327L probably damaging Het
Tbc1d4 C A 14: 101,696,206 (GRCm39) C914F probably benign Het
Tbx3 A G 5: 119,812,132 (GRCm39) D144G probably damaging Het
Tgfbr2 T C 9: 115,939,212 (GRCm39) K205R possibly damaging Het
Tmem94 A T 11: 115,681,857 (GRCm39) probably null Het
Usf3 T A 16: 44,041,468 (GRCm39) F1983I probably damaging Het
Ush2a T A 1: 188,132,068 (GRCm39) C763* probably null Het
Vmn1r115 A C 7: 20,578,640 (GRCm39) L91V probably damaging Het
Vmn1r201 A T 13: 22,659,499 (GRCm39) I238F possibly damaging Het
Vmn1r28 T A 6: 58,242,476 (GRCm39) S106R probably damaging Het
Vmn1r82 T C 7: 12,039,012 (GRCm39) V95A probably damaging Het
Vrk3 A T 7: 44,419,035 (GRCm39) N371I possibly damaging Het
Wnt8b C A 19: 44,500,082 (GRCm39) A223E probably benign Het
Xirp2 T C 2: 67,335,921 (GRCm39) probably null Het
Xpo7 T C 14: 70,920,243 (GRCm39) N642S probably benign Het
Ythdc1 G A 5: 86,975,953 (GRCm39) R520H possibly damaging Het
Zfp367 T C 13: 64,283,204 (GRCm39) E316G probably damaging Het
Zfp488 T A 14: 33,692,751 (GRCm39) R137S possibly damaging Het
Zfp532 G T 18: 65,789,542 (GRCm39) V994L probably benign 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
IGL02902:Ltn1 APN 16 87,176,693 (GRCm39) missense possibly damaging 0.70
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
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
Predicted Primers PCR Primer
(F):5'- AAGTTTCCGCAGCACCATTC -3'
(R):5'- GCCCACTTCACAAGTATATTCAG -3'

Sequencing Primer
(F):5'- GCAGCACCATTCGGAAATCGG -3'
(R):5'- CTACTTGGTTCAAAACAGAGC -3'
Posted On 2017-10-10