Incidental Mutation 'IGL02929:Ltv1'
ID 364022
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ltv1
Ensembl Gene ENSMUSG00000019814
Gene Name LTV1 ribosome biogenesis factor
Synonyms 2610020N02Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.414) question?
Stock # IGL02929
Quality Score
Status
Chromosome 10
Chromosomal Location 13054341-13068881 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13067970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 6 (K6R)
Ref Sequence ENSEMBL: ENSMUSP00000019950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019950]
AlphaFold Q6NSQ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000019950
AA Change: K6R

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000019950
Gene: ENSMUSG00000019814
AA Change: K6R

DomainStartEndE-ValueType
Pfam:LTV 11 440 3.8e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219824
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330070K13Rik A G 5: 130,413,252 (GRCm39) probably null Het
Abcb5 T C 12: 118,908,674 (GRCm39) Y90C probably damaging Het
Accs T C 2: 93,674,566 (GRCm39) D112G probably damaging Het
Adam32 C A 8: 25,362,659 (GRCm39) V13L possibly damaging Het
Adgrb3 A G 1: 25,592,905 (GRCm39) V294A probably benign Het
Agt G T 8: 125,283,829 (GRCm39) A430E probably benign Het
Agxt2 T C 15: 10,388,379 (GRCm39) probably benign Het
Atp2a1 A T 7: 126,056,116 (GRCm39) I235N probably damaging Het
Atp8b1 T C 18: 64,694,733 (GRCm39) I516M possibly damaging Het
Atrx T C X: 104,923,512 (GRCm39) probably null Het
Brcc3 T C X: 74,479,105 (GRCm39) V117A possibly damaging Het
Casp8ap2 T C 4: 32,624,105 (GRCm39) probably benign Het
Ceacam3 T A 7: 16,892,115 (GRCm39) V286D probably damaging Het
Cpb1 T C 3: 20,329,630 (GRCm39) D32G probably benign Het
Cpsf1 C A 15: 76,486,327 (GRCm39) probably null Het
Dnai4 C T 4: 102,917,188 (GRCm39) W552* probably null Het
Dock2 A T 11: 34,218,048 (GRCm39) V1174E probably damaging Het
Dqx1 A G 6: 83,037,465 (GRCm39) probably benign Het
Ercc1 T C 7: 19,089,288 (GRCm39) probably null Het
Fn1 A G 1: 71,634,821 (GRCm39) probably null Het
Garre1 A T 7: 33,944,507 (GRCm39) M75K possibly damaging Het
Ice1 A G 13: 70,744,322 (GRCm39) L2087P probably damaging Het
Ift122 A G 6: 115,879,838 (GRCm39) D612G probably damaging Het
Igkv6-25 A G 6: 70,192,929 (GRCm39) Y112C probably damaging Het
Kit C A 5: 75,801,429 (GRCm39) P572Q probably damaging Het
Kras A G 6: 145,177,815 (GRCm39) probably benign Het
Man1a C T 10: 53,801,531 (GRCm39) V443I probably benign Het
Mat2b A C 11: 40,575,540 (GRCm39) D154E probably benign Het
Mtrf1 A G 14: 79,640,273 (GRCm39) K143E probably benign Het
Myh13 A C 11: 67,257,991 (GRCm39) I95L probably damaging Het
Myo7b A T 18: 32,127,978 (GRCm39) D571E probably benign Het
Nek10 T A 14: 14,821,119 (GRCm38) D28E possibly damaging Het
Npm2 T A 14: 70,889,678 (GRCm39) probably null Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Plcb2 G A 2: 118,543,715 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,719,810 (GRCm39) M368T probably benign Het
Rnf123 G T 9: 107,946,275 (GRCm39) T300K probably benign Het
Sbspon A G 1: 15,954,069 (GRCm39) probably benign Het
Slc52a2 G A 15: 76,424,776 (GRCm39) C338Y probably benign Het
Tdrd6 T A 17: 43,940,604 (GRCm39) Q148L possibly damaging Het
Tle5 T A 10: 81,400,672 (GRCm39) probably null Het
Trpc3 T A 3: 36,692,623 (GRCm39) K790* probably null Het
Ushbp1 C T 8: 71,847,120 (GRCm39) A171T probably damaging Het
Usp32 T C 11: 84,879,198 (GRCm39) T1504A probably benign Het
Other mutations in Ltv1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Ltv1 APN 10 13,066,327 (GRCm39) missense probably benign 0.00
IGL00898:Ltv1 APN 10 13,058,031 (GRCm39) missense probably damaging 1.00
IGL01931:Ltv1 APN 10 13,061,245 (GRCm39) missense probably damaging 1.00
R0313:Ltv1 UTSW 10 13,058,604 (GRCm39) critical splice donor site probably null
R0457:Ltv1 UTSW 10 13,067,887 (GRCm39) missense probably benign 0.41
R1786:Ltv1 UTSW 10 13,058,280 (GRCm39) unclassified probably benign
R1817:Ltv1 UTSW 10 13,055,018 (GRCm39) missense probably damaging 1.00
R3780:Ltv1 UTSW 10 13,054,944 (GRCm39) missense probably benign 0.25
R4395:Ltv1 UTSW 10 13,066,323 (GRCm39) missense probably benign
R5390:Ltv1 UTSW 10 13,058,103 (GRCm39) missense probably damaging 1.00
R6271:Ltv1 UTSW 10 13,055,445 (GRCm39) missense probably damaging 1.00
R6366:Ltv1 UTSW 10 13,056,739 (GRCm39) missense probably benign 0.01
R7057:Ltv1 UTSW 10 13,056,646 (GRCm39) missense possibly damaging 0.58
R7975:Ltv1 UTSW 10 13,066,453 (GRCm39) missense probably damaging 1.00
R9455:Ltv1 UTSW 10 13,058,117 (GRCm39) missense probably damaging 1.00
R9608:Ltv1 UTSW 10 13,066,440 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18