Incidental Mutation 'IGL03046:Ltn1'
ID 391883
Institutional Source Beutler Lab
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 # IGL03046 (G1)
Quality Score 119
Status Validated
Chromosome 16
Chromosomal Location 87173539-87229500 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87202509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1047 (S1047R)
Ref Sequence ENSEMBL: ENSMUSP00000038775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039449]
AlphaFold Q6A009
Predicted Effect probably benign
Transcript: ENSMUST00000039449
AA Change: S1047R

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: S1047R

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (54/55)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,636,282 (GRCm39) M717K probably benign Het
Acad12 C A 5: 121,748,029 (GRCm39) V130L probably benign Het
Cdca2 T C 14: 67,937,471 (GRCm39) probably benign Het
Cfap100 T A 6: 90,389,332 (GRCm39) probably null Het
Cfap43 T A 19: 47,804,302 (GRCm39) E298V probably damaging Het
Cic C T 7: 24,990,500 (GRCm39) P1971S probably damaging Het
Cnga1 T C 5: 72,761,681 (GRCm39) D611G probably benign Het
Daglb C T 5: 143,486,948 (GRCm39) P522L probably damaging Het
Dclre1b A T 3: 103,710,597 (GRCm39) I438K probably benign Het
Ddx5 C A 11: 106,675,871 (GRCm39) R273M probably damaging Het
Eepd1 C T 9: 25,393,981 (GRCm39) L82F probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Exoc6 T C 19: 37,582,217 (GRCm39) probably null Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Foxs1 T C 2: 152,774,484 (GRCm39) T190A probably benign Het
Gje1 A G 10: 14,592,374 (GRCm39) L136P probably damaging Het
Hdac11 A G 6: 91,145,827 (GRCm39) T176A probably benign Het
Hhip C A 8: 80,698,967 (GRCm39) V700L probably damaging Het
Hps5 T C 7: 46,426,463 (GRCm39) probably benign Het
Itgb1bp1 T C 12: 21,329,436 (GRCm39) S13G unknown Het
Kcna1 A T 6: 126,619,148 (GRCm39) L391M possibly damaging Het
Kif1a C T 1: 93,010,128 (GRCm39) V6M probably damaging Het
Klhl6 T C 16: 19,801,639 (GRCm39) I39V probably benign Het
Lpcat4 C A 2: 112,072,334 (GRCm39) silent Het
Mdn1 A G 4: 32,694,495 (GRCm39) T1073A possibly damaging Het
Megf10 G T 18: 57,421,055 (GRCm39) A898S possibly damaging Het
Mtmr6 T C 14: 60,529,577 (GRCm39) probably null Het
Mtnr1b T C 9: 15,774,059 (GRCm39) I333M probably benign Het
Muc5ac G T 7: 141,348,950 (GRCm39) C463F probably benign Het
Mycbpap G T 11: 94,396,543 (GRCm39) T99N possibly damaging Het
Myo7a C T 7: 97,728,534 (GRCm39) C824Y probably damaging Het
N4bp2 A G 5: 65,948,303 (GRCm39) H311R probably damaging Het
Nepro T A 16: 44,552,509 (GRCm39) probably benign Het
Nop56 A T 2: 130,117,489 (GRCm39) probably benign Het
Nup210 A G 6: 90,995,978 (GRCm39) probably benign Het
Or4d10c A G 19: 12,065,391 (GRCm39) V255A probably damaging Het
Or7g25 T A 9: 19,160,441 (GRCm39) I85F probably damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pgap6 A T 17: 26,338,414 (GRCm39) probably null Het
Pkhd1 T G 1: 20,607,589 (GRCm39) D1089A possibly damaging Het
Plb1 A G 5: 32,485,756 (GRCm39) R847G probably damaging Het
Pou6f2 A G 13: 18,303,612 (GRCm39) probably benign Het
Prss43 C G 9: 110,660,049 (GRCm39) S371C probably benign Het
Ralgapa1 A T 12: 55,741,942 (GRCm39) V1322D probably damaging Het
Rrp8 A G 7: 105,384,109 (GRCm39) V131A probably benign Het
Rtp1 A T 16: 23,248,044 (GRCm39) K39M probably benign Het
Sanbr A T 11: 23,565,150 (GRCm39) L279Q possibly damaging Het
Slc1a6 A G 10: 78,636,008 (GRCm39) I358V probably benign Het
Slc25a15 T C 8: 22,885,726 (GRCm39) probably benign Het
Slc43a1 G A 2: 84,684,897 (GRCm39) probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Spock3 T G 8: 63,802,018 (GRCm39) probably null Het
Tbc1d7 T C 13: 43,308,162 (GRCm39) probably null Het
Tmem184c C T 8: 78,326,286 (GRCm39) W260* probably null Het
Trnau1ap A G 4: 132,039,252 (GRCm39) Y265H probably damaging Het
Usp25 T C 16: 76,871,754 (GRCm39) F363S probably damaging Het
Vcl T C 14: 21,072,085 (GRCm39) F817L possibly damaging Het
Vmn1r13 T A 6: 57,187,717 (GRCm39) M292K probably benign Het
Xpc G T 6: 91,487,463 (GRCm39) A89E probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GGGCTTTAGATCAACACTCTGATTG -3'
(R):5'- GCCCCTTGACAAGTTTTGG -3'

Sequencing Primer
(F):5'- TCTGATTGAAACAAAAGCACAAACTG -3'
(R):5'- CCCTTGACAAGTTTTGGAGGAGAC -3'
Posted On 2016-06-07