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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |