Incidental Mutation 'IGL01465:Lig1'
ID 88089
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lig1
Ensembl Gene ENSMUSG00000056394
Gene Name ligase I, DNA, ATP-dependent
Synonyms mLigI, LigI
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01465
Quality Score
Status
Chromosome 7
Chromosomal Location 13011239-13045350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13030317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 431 (S431R)
Ref Sequence ENSEMBL: ENSMUSP00000136972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098814] [ENSMUST00000146998] [ENSMUST00000165964] [ENSMUST00000177588] [ENSMUST00000185145]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000098814
AA Change: S431R

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000096411
Gene: ENSMUSG00000056394
AA Change: S431R

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
coiled coil region 149 173 N/A INTRINSIC
Pfam:DNA_ligase_A_N 301 479 8.6e-50 PFAM
Pfam:DNA_ligase_A_M 556 760 3.4e-67 PFAM
Pfam:DNA_ligase_A_C 785 896 9.4e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123846
SMART Domains Protein: ENSMUSP00000119788
Gene: ENSMUSG00000056394

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
coiled coil region 149 173 N/A INTRINSIC
Pfam:DNA_ligase_A_N 301 479 4e-47 PFAM
Pfam:DNA_ligase_A_M 556 687 1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146998
SMART Domains Protein: ENSMUSP00000121102
Gene: ENSMUSG00000056394

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
low complexity region 160 178 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147735
SMART Domains Protein: ENSMUSP00000115286
Gene: ENSMUSG00000056394

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
coiled coil region 149 173 N/A INTRINSIC
Pfam:DNA_ligase_A_N 301 479 4e-47 PFAM
Pfam:DNA_ligase_A_M 556 687 1e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148471
SMART Domains Protein: ENSMUSP00000114153
Gene: ENSMUSG00000056394

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
coiled coil region 149 173 N/A INTRINSIC
Pfam:DNA_ligase_A_N 301 479 4e-47 PFAM
Pfam:DNA_ligase_A_M 556 687 1e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156525
SMART Domains Protein: ENSMUSP00000118055
Gene: ENSMUSG00000056394

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
coiled coil region 149 173 N/A INTRINSIC
Pfam:DNA_ligase_A_N 301 479 4e-47 PFAM
Pfam:DNA_ligase_A_M 556 687 1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165964
AA Change: S431R

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000126525
Gene: ENSMUSG00000056394
AA Change: S431R

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
coiled coil region 149 173 N/A INTRINSIC
Pfam:DNA_ligase_A_N 302 478 1.7e-40 PFAM
Pfam:DNA_ligase_A_M 556 760 1.1e-69 PFAM
Pfam:DNA_ligase_A_C 785 896 1.6e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177588
AA Change: S431R

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000136972
Gene: ENSMUSG00000056394
AA Change: S431R

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
coiled coil region 149 173 N/A INTRINSIC
Pfam:DNA_ligase_A_N 301 479 8.6e-50 PFAM
Pfam:DNA_ligase_A_M 556 760 3.4e-67 PFAM
Pfam:DNA_ligase_A_C 785 896 9.4e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185145
SMART Domains Protein: ENSMUSP00000138907
Gene: ENSMUSG00000056394

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
coiled coil region 149 173 N/A INTRINSIC
PDB:1X9N|A 247 313 3e-24 PDB
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 encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit impaired fetal hematopoiesis, develop anemia, and die by E16.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,114,838 (GRCm39) probably null Het
Abracl A T 10: 17,887,399 (GRCm39) I76N probably damaging Het
Akap12 C T 10: 4,306,886 (GRCm39) T1232I probably damaging Het
Clcn6 A T 4: 148,105,908 (GRCm39) probably benign Het
Cpsf2 C A 12: 101,963,592 (GRCm39) D440E probably damaging Het
Csf2ra A G 19: 61,214,436 (GRCm39) V243A possibly damaging Het
Cyp4f18 T A 8: 72,756,288 (GRCm39) H96L probably benign Het
Dvl2 T A 11: 69,897,180 (GRCm39) I294N probably damaging Het
Fbn2 T A 18: 58,336,905 (GRCm39) N117Y probably null Het
Gdpd3 A G 7: 126,367,829 (GRCm39) I221V possibly damaging Het
Grk2 A T 19: 4,340,886 (GRCm39) C221S probably damaging Het
Idi1 T C 13: 8,940,415 (GRCm39) I199T probably benign Het
Klhl6 T C 16: 19,801,572 (GRCm39) E61G probably damaging Het
Lrg1 T C 17: 56,427,705 (GRCm39) E89G probably benign Het
Lrrk2 A G 15: 91,613,128 (GRCm39) K751E probably benign Het
Macf1 T A 4: 123,384,514 (GRCm39) T1128S probably benign Het
Nphs1 T C 7: 30,186,139 (GRCm39) *1243R probably null Het
Rere G A 4: 150,594,451 (GRCm39) V354I unknown Het
Safb A G 17: 56,909,974 (GRCm39) probably benign Het
Slc2a10 C A 2: 165,359,597 (GRCm39) A487D possibly damaging Het
Slc7a12 T A 3: 14,564,383 (GRCm39) S85R possibly damaging Het
Sorbs3 G A 14: 70,432,958 (GRCm39) probably benign Het
Ttn A G 2: 76,600,135 (GRCm39) M19013T probably damaging Het
Utp4 A G 8: 107,621,330 (GRCm39) T36A probably benign Het
Vmn2r111 A T 17: 22,767,718 (GRCm39) F593Y probably benign Het
Other mutations in Lig1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Lig1 APN 7 13,035,378 (GRCm39) nonsense probably null
IGL00499:Lig1 APN 7 13,032,756 (GRCm39) critical splice donor site probably null
IGL01804:Lig1 APN 7 13,043,131 (GRCm39) missense probably benign 0.43
IGL02068:Lig1 APN 7 13,026,377 (GRCm39) splice site probably benign
IGL02955:Lig1 APN 7 13,030,273 (GRCm39) missense probably damaging 0.99
IGL03188:Lig1 APN 7 13,045,032 (GRCm39) splice site probably benign
IGL03327:Lig1 APN 7 13,037,781 (GRCm39) missense probably damaging 1.00
IGL03411:Lig1 APN 7 13,030,694 (GRCm39) missense probably damaging 1.00
PIT4142001:Lig1 UTSW 7 13,039,850 (GRCm39) frame shift probably null
R0085:Lig1 UTSW 7 13,041,495 (GRCm39) missense possibly damaging 0.66
R0348:Lig1 UTSW 7 13,043,122 (GRCm39) missense probably damaging 1.00
R0362:Lig1 UTSW 7 13,030,730 (GRCm39) unclassified probably benign
R0787:Lig1 UTSW 7 13,032,995 (GRCm39) missense probably benign 0.41
R1170:Lig1 UTSW 7 13,026,079 (GRCm39) missense probably benign 0.00
R1371:Lig1 UTSW 7 13,022,611 (GRCm39) missense probably damaging 1.00
R1610:Lig1 UTSW 7 13,019,266 (GRCm39) missense probably damaging 1.00
R1809:Lig1 UTSW 7 13,034,281 (GRCm39) splice site probably benign
R1986:Lig1 UTSW 7 13,043,067 (GRCm39) nonsense probably null
R2106:Lig1 UTSW 7 13,039,863 (GRCm39) missense probably damaging 1.00
R2343:Lig1 UTSW 7 13,026,121 (GRCm39) splice site probably null
R2380:Lig1 UTSW 7 13,037,722 (GRCm39) splice site probably benign
R3545:Lig1 UTSW 7 13,026,089 (GRCm39) missense possibly damaging 0.82
R4669:Lig1 UTSW 7 13,044,953 (GRCm39) missense probably damaging 1.00
R4928:Lig1 UTSW 7 13,032,664 (GRCm39) missense probably damaging 1.00
R5167:Lig1 UTSW 7 13,044,983 (GRCm39) missense probably damaging 0.97
R5249:Lig1 UTSW 7 13,042,432 (GRCm39) missense possibly damaging 0.60
R5351:Lig1 UTSW 7 13,034,875 (GRCm39) missense probably damaging 1.00
R5373:Lig1 UTSW 7 13,039,849 (GRCm39) frame shift probably null
R5607:Lig1 UTSW 7 13,039,933 (GRCm39) missense probably damaging 0.97
R5608:Lig1 UTSW 7 13,039,933 (GRCm39) missense probably damaging 0.97
R5620:Lig1 UTSW 7 13,020,532 (GRCm39) missense possibly damaging 0.66
R5799:Lig1 UTSW 7 13,030,184 (GRCm39) missense possibly damaging 0.67
R6057:Lig1 UTSW 7 13,022,598 (GRCm39) missense probably damaging 0.99
R6897:Lig1 UTSW 7 13,039,840 (GRCm39) missense probably damaging 1.00
R7202:Lig1 UTSW 7 13,025,175 (GRCm39) missense probably benign 0.00
R7454:Lig1 UTSW 7 13,022,647 (GRCm39) missense probably damaging 0.99
R7548:Lig1 UTSW 7 13,035,344 (GRCm39) missense possibly damaging 0.79
R7596:Lig1 UTSW 7 13,039,923 (GRCm39) missense probably damaging 1.00
R7597:Lig1 UTSW 7 13,030,270 (GRCm39) missense probably benign
R7688:Lig1 UTSW 7 13,023,389 (GRCm39) missense probably benign
R7733:Lig1 UTSW 7 13,030,157 (GRCm39) missense possibly damaging 0.87
R8104:Lig1 UTSW 7 13,020,491 (GRCm39) missense possibly damaging 0.46
R8887:Lig1 UTSW 7 13,030,713 (GRCm39) missense probably damaging 1.00
R9025:Lig1 UTSW 7 13,037,746 (GRCm39) missense probably damaging 1.00
R9321:Lig1 UTSW 7 13,034,935 (GRCm39) missense probably damaging 1.00
R9555:Lig1 UTSW 7 13,025,400 (GRCm39) missense probably benign
X0020:Lig1 UTSW 7 13,030,700 (GRCm39) missense possibly damaging 0.48
Posted On 2013-11-18