Incidental Mutation 'IGL01804:Lig1'
ID 155631
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 # IGL01804
Quality Score
Status
Chromosome 7
Chromosomal Location 13011239-13045350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13043131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 859 (K859E)
Ref Sequence ENSEMBL: ENSMUSP00000136972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098814] [ENSMUST00000165964] [ENSMUST00000177588]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000098814
AA Change: K859E

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096411
Gene: ENSMUSG00000056394
AA Change: K859E

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 noncoding transcript
Transcript: ENSMUST00000131294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138453
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 probably benign
Transcript: ENSMUST00000165964
AA Change: K859E

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126525
Gene: ENSMUSG00000056394
AA Change: K859E

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: K859E

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136972
Gene: ENSMUSG00000056394
AA Change: K859E

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: 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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,315,342 (GRCm39) N1860D probably benign Het
Abca2 T A 2: 25,336,637 (GRCm39) C2248S probably damaging Het
Adamts16 G A 13: 70,949,080 (GRCm39) Q194* probably null Het
Cetn3 A T 13: 81,932,779 (GRCm39) K13* probably null Het
Cldn18 T A 9: 99,580,901 (GRCm39) K116* probably null Het
Cntn5 T A 9: 9,831,542 (GRCm39) I613F probably damaging Het
Cyp46a1 A G 12: 108,321,745 (GRCm39) I324V probably benign Het
Ddb1 A C 19: 10,590,382 (GRCm39) E303A probably damaging Het
Dnajc2 A G 5: 21,962,361 (GRCm39) V539A probably damaging Het
Dock2 T A 11: 34,212,433 (GRCm39) Y1236F probably benign Het
Dpf1 T A 7: 29,015,926 (GRCm39) C383S probably damaging Het
Edc4 T A 8: 106,617,289 (GRCm39) I1052N possibly damaging Het
Ehmt1 A G 2: 24,681,966 (GRCm39) L1243P probably damaging Het
Exoc6b A G 6: 84,885,148 (GRCm39) S264P probably damaging Het
Gbx2 T C 1: 89,856,703 (GRCm39) E229G probably benign Het
Hip1r T A 5: 124,139,613 (GRCm39) probably null Het
Ly6g6f T C 17: 35,300,146 (GRCm39) D234G possibly damaging Het
Mmp11 G T 10: 75,764,304 (GRCm39) L54I probably benign Het
Naip5 A T 13: 100,358,092 (GRCm39) L1048Q probably damaging Het
Or4c122 C A 2: 89,079,566 (GRCm39) M157I probably benign Het
Or6k14 A G 1: 173,927,401 (GRCm39) I126V probably damaging Het
Or7g12 T A 9: 18,900,136 (GRCm39) M284K probably benign Het
Or8g17 T C 9: 38,930,697 (GRCm39) I47V probably benign Het
Pappa2 T C 1: 158,764,089 (GRCm39) D474G probably benign Het
Plxna1 A G 6: 89,306,628 (GRCm39) Y1401H probably damaging Het
Prrg4 T A 2: 104,663,035 (GRCm39) E190D probably damaging Het
Rnf213 T C 11: 119,333,092 (GRCm39) F2767S probably damaging Het
Scgb1b2 T A 7: 30,991,155 (GRCm39) probably benign Het
Sec31a A G 5: 100,523,065 (GRCm39) probably null Het
Slc12a4 A G 8: 106,671,033 (GRCm39) S1014P probably damaging Het
Spns2 A T 11: 72,348,130 (GRCm39) I279N possibly damaging Het
Spta1 A T 1: 174,071,746 (GRCm39) H2242L probably benign Het
Tcaf3 T A 6: 42,574,063 (GRCm39) I50F probably damaging Het
Tnfaip8l1 G A 17: 56,479,214 (GRCm39) S168N probably benign Het
Trak1 C T 9: 121,271,751 (GRCm39) probably benign Het
Trpv4 A T 5: 114,782,847 (GRCm39) N38K possibly damaging Het
Ube2o T C 11: 116,435,199 (GRCm39) T530A probably benign Het
Vmn2r2 A G 3: 64,041,677 (GRCm39) V346A possibly damaging Het
Vmn2r86 A C 10: 130,288,858 (GRCm39) D214E probably damaging Het
Wwc1 C A 11: 35,732,751 (GRCm39) D986Y probably damaging Het
Xdh T C 17: 74,199,754 (GRCm39) D1184G probably damaging 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
IGL01465:Lig1 APN 7 13,030,317 (GRCm39) missense probably benign 0.19
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 2014-02-04