Incidental Mutation 'IGL01749:Lig3'
ID 153092
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
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01749
Quality Score
Status
Chromosome 11
Chromosomal Location 82671977-82695100 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 82680693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 421 (L421R)
Ref Sequence ENSEMBL: ENSMUSP00000133849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021039] [ENSMUST00000080461] [ENSMUST00000092849] [ENSMUST00000131537] [ENSMUST00000173009] [ENSMUST00000173722] [ENSMUST00000173727] [ENSMUST00000173347]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000021039
AA Change: L426R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021039
Gene: ENSMUSG00000020697
AA Change: L426R

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 probably damaging
Transcript: ENSMUST00000080461
AA Change: L422R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079317
Gene: ENSMUSG00000020697
AA Change: L422R

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 probably damaging
Transcript: ENSMUST00000092849
AA Change: L422R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090525
Gene: ENSMUSG00000020697
AA Change: L422R

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 probably damaging
Transcript: ENSMUST00000131537
AA Change: L422R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133672
Gene: ENSMUSG00000020697
AA Change: L422R

DomainStartEndE-ValueType
zf-PARP 97 183 8.89e-32 SMART
low complexity region 188 202 N/A INTRINSIC
Pfam:DNA_ligase_A_N 263 431 3.1e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172609
Predicted Effect probably damaging
Transcript: ENSMUST00000173009
AA Change: L422R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133348
Gene: ENSMUSG00000020697
AA Change: L422R

DomainStartEndE-ValueType
zf-PARP 97 183 8.89e-32 SMART
low complexity region 188 202 N/A INTRINSIC
Pfam:DNA_ligase_A_N 263 431 3.1e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173722
AA Change: L422R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133805
Gene: ENSMUSG00000020697
AA Change: L422R

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 probably damaging
Transcript: ENSMUST00000173727
AA Change: L421R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133849
Gene: ENSMUSG00000020697
AA Change: L421R

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 probably damaging
Transcript: ENSMUST00000173347
AA Change: L421R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134300
Gene: ENSMUSG00000020697
AA Change: L421R

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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,135,050 (GRCm39) E245G probably damaging Het
Bach2 A G 4: 32,580,261 (GRCm39) T829A probably damaging Het
Car1 T A 3: 14,832,519 (GRCm39) H205L probably benign Het
Cmya5 T C 13: 93,225,807 (GRCm39) T3094A probably benign Het
Dctn2 G A 10: 127,117,286 (GRCm39) R380H possibly damaging Het
Flt3 T C 5: 147,294,838 (GRCm39) K411R probably benign Het
Gm5263 T G 1: 146,296,302 (GRCm39) noncoding transcript Het
Hook2 T C 8: 85,719,865 (GRCm39) probably null Het
Iqsec1 G A 6: 90,657,486 (GRCm39) R571C probably benign Het
Mtcl2 G T 2: 156,863,461 (GRCm39) probably benign Het
Nipbl A G 15: 8,391,305 (GRCm39) V223A probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or2y12 A T 11: 49,426,944 (GRCm39) R311W probably damaging Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Reln C A 5: 22,549,244 (GRCm39) E55* probably null Het
Tlr1 A T 5: 65,083,290 (GRCm39) L429* probably null Het
Ttc22 A G 4: 106,495,800 (GRCm39) T385A probably benign Het
Vmn1r48 A G 6: 90,012,934 (GRCm39) V297A possibly damaging Het
Other mutations in Lig3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Lig3 APN 11 82,688,141 (GRCm39) missense possibly damaging 0.90
IGL01577:Lig3 APN 11 82,674,303 (GRCm39) missense probably benign 0.00
IGL01643:Lig3 APN 11 82,689,118 (GRCm39) missense probably damaging 1.00
IGL01712:Lig3 APN 11 82,680,367 (GRCm39) splice site probably benign
IGL01724:Lig3 APN 11 82,681,448 (GRCm39) missense possibly damaging 0.95
IGL01778:Lig3 APN 11 82,685,367 (GRCm39) missense probably damaging 1.00
IGL02798:Lig3 APN 11 82,686,531 (GRCm39) splice site probably benign
IGL03007:Lig3 APN 11 82,680,401 (GRCm39) missense probably damaging 1.00
IGL03178:Lig3 APN 11 82,680,548 (GRCm39) splice site probably benign
R0001:Lig3 UTSW 11 82,681,417 (GRCm39) missense probably damaging 1.00
R0115:Lig3 UTSW 11 82,684,761 (GRCm39) missense probably damaging 1.00
R0834:Lig3 UTSW 11 82,689,113 (GRCm39) missense probably damaging 0.99
R1460:Lig3 UTSW 11 82,686,624 (GRCm39) splice site probably benign
R1602:Lig3 UTSW 11 82,683,020 (GRCm39) critical splice donor site probably null
R1969:Lig3 UTSW 11 82,686,544 (GRCm39) missense probably benign 0.14
R1971:Lig3 UTSW 11 82,686,544 (GRCm39) missense probably benign 0.14
R1997:Lig3 UTSW 11 82,678,492 (GRCm39) missense probably benign 0.00
R3817:Lig3 UTSW 11 82,686,941 (GRCm39) missense possibly damaging 0.75
R4083:Lig3 UTSW 11 82,681,320 (GRCm39) missense probably benign 0.31
R4084:Lig3 UTSW 11 82,686,250 (GRCm39) missense probably damaging 1.00
R4665:Lig3 UTSW 11 82,691,076 (GRCm39) missense probably damaging 0.99
R4737:Lig3 UTSW 11 82,678,553 (GRCm39) missense probably damaging 1.00
R5212:Lig3 UTSW 11 82,678,504 (GRCm39) missense probably benign
R5274:Lig3 UTSW 11 82,688,118 (GRCm39) splice site probably null
R6320:Lig3 UTSW 11 82,684,833 (GRCm39) critical splice donor site probably null
R6807:Lig3 UTSW 11 82,674,577 (GRCm39) missense probably benign 0.00
R7103:Lig3 UTSW 11 82,688,138 (GRCm39) missense probably benign 0.17
R7552:Lig3 UTSW 11 82,679,717 (GRCm39) missense probably benign 0.00
R7646:Lig3 UTSW 11 82,674,304 (GRCm39) missense probably benign 0.00
R7910:Lig3 UTSW 11 82,688,601 (GRCm39) missense probably damaging 0.99
R7966:Lig3 UTSW 11 82,681,342 (GRCm39) missense probably damaging 1.00
R8001:Lig3 UTSW 11 82,682,902 (GRCm39) missense probably benign 0.18
R8436:Lig3 UTSW 11 82,682,870 (GRCm39) missense possibly damaging 0.82
R8699:Lig3 UTSW 11 82,685,376 (GRCm39) missense probably damaging 1.00
R9352:Lig3 UTSW 11 82,686,971 (GRCm39) missense probably benign 0.01
R9392:Lig3 UTSW 11 82,680,666 (GRCm39) missense probably benign 0.06
R9452:Lig3 UTSW 11 82,681,448 (GRCm39) missense probably damaging 1.00
R9469:Lig3 UTSW 11 82,686,199 (GRCm39) missense probably benign 0.01
R9726:Lig3 UTSW 11 82,674,420 (GRCm39) missense possibly damaging 0.89
Posted On 2014-02-04