Incidental Mutation 'IGL01066:Lig3'
ID 52207
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lig3
Ensembl Gene ENSMUSG00000020697
Gene Name ligase III, DNA, ATP-dependent
Synonyms D11Wsu78e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01066
Quality Score
Status
Chromosome 11
Chromosomal Location 82781108-82804274 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82797315 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 714 (M714K)
Ref Sequence ENSEMBL: ENSMUSP00000021039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021039] [ENSMUST00000080461] [ENSMUST00000092849] [ENSMUST00000172837] [ENSMUST00000173347] [ENSMUST00000173722] [ENSMUST00000173727]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000021039
AA Change: M714K

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021039
Gene: ENSMUSG00000020697
AA Change: M714K

DomainStartEndE-ValueType
zf-PARP 97 183 8.89e-32 SMART
low complexity region 188 202 N/A INTRINSIC
Pfam:DNA_ligase_A_N 265 440 3.5e-34 PFAM
Pfam:DNA_ligase_A_M 489 683 3.9e-65 PFAM
Pfam:DNA_ligase_A_C 710 820 3.8e-21 PFAM
low complexity region 855 885 N/A INTRINSIC
BRCT 942 1010 9.77e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000080461
AA Change: M710K

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000079317
Gene: ENSMUSG00000020697
AA Change: M710K

DomainStartEndE-ValueType
zf-PARP 97 183 8.89e-32 SMART
low complexity region 188 202 N/A INTRINSIC
Pfam:DNA_ligase_A_N 263 437 6.8e-53 PFAM
Pfam:DNA_ligase_A_M 485 679 1.3e-63 PFAM
Pfam:DNA_ligase_A_C 706 816 3.2e-21 PFAM
low complexity region 851 881 N/A INTRINSIC
low complexity region 934 946 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000092849
AA Change: M710K

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090525
Gene: ENSMUSG00000020697
AA Change: M710K

DomainStartEndE-ValueType
zf-PARP 97 183 8.89e-32 SMART
low complexity region 188 202 N/A INTRINSIC
Pfam:DNA_ligase_A_N 263 437 1.4e-52 PFAM
Pfam:DNA_ligase_A_M 485 679 7.2e-64 PFAM
Pfam:DNA_ligase_A_C 706 816 2.2e-21 PFAM
low complexity region 851 881 N/A INTRINSIC
BRCT 938 1006 9.77e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172609
Predicted Effect probably benign
Transcript: ENSMUST00000172837
SMART Domains Protein: ENSMUSP00000134101
Gene: ENSMUSG00000020697

DomainStartEndE-ValueType
PDB:3L2P|A 1 25 8e-9 PDB
low complexity region 41 71 N/A INTRINSIC
PDB:3QVG|C 115 173 2e-29 PDB
SCOP:d1in1a_ 116 172 3e-34 SMART
Blast:BRCT 128 173 2e-25 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000173347
AA Change: M709K

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134300
Gene: ENSMUSG00000020697
AA Change: M709K

DomainStartEndE-ValueType
zf-PARP 97 183 8.89e-32 SMART
low complexity region 188 202 N/A INTRINSIC
Pfam:DNA_ligase_A_N 262 436 1.4e-52 PFAM
Pfam:DNA_ligase_A_M 484 678 7.2e-64 PFAM
Pfam:DNA_ligase_A_C 705 815 2.2e-21 PFAM
low complexity region 850 880 N/A INTRINSIC
BRCT 937 1005 9.77e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173722
AA Change: M710K

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133805
Gene: ENSMUSG00000020697
AA Change: M710K

DomainStartEndE-ValueType
zf-PARP 97 183 8.89e-32 SMART
low complexity region 188 202 N/A INTRINSIC
Pfam:DNA_ligase_A_N 263 437 1.4e-52 PFAM
Pfam:DNA_ligase_A_M 485 679 7.2e-64 PFAM
Pfam:DNA_ligase_A_C 706 816 2.2e-21 PFAM
low complexity region 851 881 N/A INTRINSIC
BRCT 938 1006 9.77e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173727
AA Change: M709K

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133849
Gene: ENSMUSG00000020697
AA Change: M709K

DomainStartEndE-ValueType
zf-PARP 97 183 8.89e-32 SMART
low complexity region 188 202 N/A INTRINSIC
Pfam:DNA_ligase_A_N 262 436 1.4e-52 PFAM
Pfam:DNA_ligase_A_M 484 678 7.2e-64 PFAM
Pfam:DNA_ligase_A_C 705 815 2.2e-21 PFAM
low complexity region 850 880 N/A INTRINSIC
BRCT 937 1005 9.77e-8 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted inactivation of this gene causes embryonic growth arrest at 8.5 dpc, followed by excessive apoptosis at 9.5 dpc, and ultimately death, likely due to unrepaired DNA damage. Homozygous mutant cells display elevated sister chromatid exchange. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
2300003K06Rik T A 11: 99,837,628 R130* probably null Het
9030624J02Rik T A 7: 118,773,011 probably null Het
Abca12 T A 1: 71,353,730 R117W possibly damaging Het
Agrn A G 4: 156,177,343 S497P probably benign Het
Alpk1 A T 3: 127,680,225 S710T probably benign Het
Anapc4 T A 5: 52,857,209 N471K probably benign Het
Ano3 A T 2: 110,661,445 M879K probably null Het
Apoe A G 7: 19,696,600 L239P probably damaging Het
Ash1l T C 3: 88,984,635 Y1274H probably damaging Het
B3glct C T 5: 149,709,425 T80I possibly damaging Het
Casc1 C T 6: 145,176,222 G624S probably damaging Het
Ccdc146 T C 5: 21,319,542 T271A probably benign Het
Chd8 T A 14: 52,217,766 N1088I probably damaging Het
Csnk1g2 T C 10: 80,634,647 probably benign Het
Daxx T A 17: 33,913,893 V627D probably benign Het
Dpy19l3 A G 7: 35,692,767 probably benign Het
Enc1 A G 13: 97,245,314 I111V probably benign Het
Ep400 A G 5: 110,668,199 probably benign Het
Fig4 T C 10: 41,285,417 probably benign Het
Fkbp7 A T 2: 76,672,908 L36* probably null Het
Fxn A T 19: 24,267,298 probably benign Het
Gm10152 C T 7: 144,763,256 P16L unknown Het
Hivep2 T C 10: 14,149,024 V2194A possibly damaging Het
Hook3 T G 8: 26,048,298 E525A probably damaging Het
Icam1 A G 9: 21,016,105 probably null Het
Ifngr1 C T 10: 19,609,198 T315I probably damaging Het
Igsf10 A G 3: 59,327,782 probably null Het
Krt87 A G 15: 101,438,385 probably null Het
Lama1 T A 17: 67,743,326 C311S probably damaging Het
Lrmp T C 6: 145,160,955 S222P probably damaging Het
Lypd5 C T 7: 24,353,485 T189I probably benign Het
Mapk8ip3 C T 17: 24,901,718 G807D probably benign Het
Met T C 6: 17,535,105 probably null Het
Nlrp4g C A 9: 124,349,526 noncoding transcript Het
Nlrp6 T A 7: 140,921,796 V62D possibly damaging Het
Nme7 A G 1: 164,345,430 probably null Het
Olfr1034 A G 2: 86,047,258 R259G probably damaging Het
Olfr1392 T C 11: 49,293,630 I103T possibly damaging Het
Olfr507 T C 7: 108,621,857 F15S probably damaging Het
Pcnx G A 12: 81,992,021 R2020Q possibly damaging Het
Pdzd2 T A 15: 12,402,632 probably benign Het
Pi4ka A G 16: 17,348,773 probably benign Het
Pkdrej T G 15: 85,816,159 I1859L probably benign Het
Plcg1 A T 2: 160,754,398 H638L probably damaging Het
Polr1b C T 2: 129,119,152 S677L probably damaging Het
Ppef2 A G 5: 92,234,237 L533P probably damaging Het
Sh3rf1 T A 8: 61,329,336 W171R probably damaging Het
Son T C 16: 91,660,136 probably benign Het
Sycp1 A G 3: 102,920,634 S266P probably damaging Het
Tedc1 A G 12: 113,163,150 E344G probably damaging Het
Tkfc T C 19: 10,594,528 I381M probably benign Het
Tmprss6 T C 15: 78,442,434 D1G probably null Het
Ttn T C 2: 76,752,426 T22708A probably damaging Het
Ubtf T C 11: 102,308,884 probably benign Het
Vwc2l T C 1: 70,728,911 F45L probably damaging Het
Xpo7 T C 14: 70,701,755 T154A probably benign Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Other mutations in Lig3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01577:Lig3 APN 11 82783477 missense probably benign 0.00
IGL01643:Lig3 APN 11 82798292 missense probably damaging 1.00
IGL01712:Lig3 APN 11 82789541 splice site probably benign
IGL01724:Lig3 APN 11 82790622 missense possibly damaging 0.95
IGL01749:Lig3 APN 11 82789867 missense probably damaging 1.00
IGL01778:Lig3 APN 11 82794541 missense probably damaging 1.00
IGL02798:Lig3 APN 11 82795705 splice site probably benign
IGL03007:Lig3 APN 11 82789575 missense probably damaging 1.00
IGL03178:Lig3 APN 11 82789722 splice site probably benign
R0001:Lig3 UTSW 11 82790591 missense probably damaging 1.00
R0115:Lig3 UTSW 11 82793935 missense probably damaging 1.00
R0834:Lig3 UTSW 11 82798287 missense probably damaging 0.99
R1460:Lig3 UTSW 11 82795798 splice site probably benign
R1602:Lig3 UTSW 11 82792194 critical splice donor site probably null
R1969:Lig3 UTSW 11 82795718 missense probably benign 0.14
R1971:Lig3 UTSW 11 82795718 missense probably benign 0.14
R1997:Lig3 UTSW 11 82787666 missense probably benign 0.00
R3817:Lig3 UTSW 11 82796115 missense possibly damaging 0.75
R4083:Lig3 UTSW 11 82790494 missense probably benign 0.31
R4084:Lig3 UTSW 11 82795424 missense probably damaging 1.00
R4665:Lig3 UTSW 11 82800250 missense probably damaging 0.99
R4737:Lig3 UTSW 11 82787727 missense probably damaging 1.00
R5212:Lig3 UTSW 11 82787678 missense probably benign
R5274:Lig3 UTSW 11 82797292 splice site probably null
R6320:Lig3 UTSW 11 82794007 critical splice donor site probably null
R6807:Lig3 UTSW 11 82783751 missense probably benign 0.00
R7103:Lig3 UTSW 11 82797312 missense probably benign 0.17
R7552:Lig3 UTSW 11 82788891 missense probably benign 0.00
R7646:Lig3 UTSW 11 82783478 missense probably benign 0.00
R7910:Lig3 UTSW 11 82797775 missense probably damaging 0.99
R7966:Lig3 UTSW 11 82790516 missense probably damaging 1.00
R8001:Lig3 UTSW 11 82792076 missense probably benign 0.18
R8436:Lig3 UTSW 11 82792044 missense possibly damaging 0.82
R8699:Lig3 UTSW 11 82794550 missense probably damaging 1.00
R9352:Lig3 UTSW 11 82796145 missense probably benign 0.01
R9392:Lig3 UTSW 11 82789840 missense probably benign 0.06
R9452:Lig3 UTSW 11 82790622 missense probably damaging 1.00
R9469:Lig3 UTSW 11 82795373 missense probably benign 0.01
R9726:Lig3 UTSW 11 82783594 missense not run
Posted On 2013-06-21