Incidental Mutation 'IGL02955:Lig1'
ID |
365087 |
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 # |
IGL02955
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
13011239-13045350 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 13030273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 417
(G417R)
|
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 damaging
Transcript: ENSMUST00000098814
AA Change: G417R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000096411 Gene: ENSMUSG00000056394 AA Change: G417R
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 |
probably benign
Transcript: ENSMUST00000146998
|
SMART Domains |
Protein: ENSMUSP00000121102 Gene: ENSMUSG00000056394
Domain | Start | End | E-Value | Type |
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
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 |
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165964
AA Change: G417R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126525 Gene: ENSMUSG00000056394 AA Change: G417R
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 damaging
Transcript: ENSMUST00000177588
AA Change: G417R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136972 Gene: ENSMUSG00000056394 AA Change: G417R
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 |
probably benign
Transcript: ENSMUST00000185145
|
SMART Domains |
Protein: ENSMUSP00000138907 Gene: ENSMUSG00000056394
Domain | Start | End | E-Value | Type |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abr |
T |
A |
11: 76,309,991 (GRCm39) |
H840L |
probably damaging |
Het |
Anks1 |
A |
G |
17: 28,273,291 (GRCm39) |
D970G |
probably damaging |
Het |
B4galnt4 |
A |
G |
7: 140,644,591 (GRCm39) |
K162R |
probably null |
Het |
Bicd2 |
T |
C |
13: 49,531,691 (GRCm39) |
V311A |
probably benign |
Het |
Cblif |
T |
C |
19: 11,725,027 (GRCm39) |
L6P |
possibly damaging |
Het |
Ccdc162 |
A |
G |
10: 41,437,123 (GRCm39) |
L489P |
probably damaging |
Het |
Cd55 |
G |
T |
1: 130,377,219 (GRCm39) |
T38K |
probably damaging |
Het |
Cep250 |
C |
A |
2: 155,817,676 (GRCm39) |
A749E |
probably benign |
Het |
Cntn3 |
G |
T |
6: 102,255,262 (GRCm39) |
T212N |
probably damaging |
Het |
Cntnap5c |
T |
A |
17: 58,199,097 (GRCm39) |
|
probably benign |
Het |
Dclre1c |
A |
G |
2: 3,439,089 (GRCm39) |
E83G |
probably damaging |
Het |
Dok4 |
T |
C |
8: 95,592,256 (GRCm39) |
N244S |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,142,864 (GRCm39) |
T1151A |
probably benign |
Het |
Fer |
G |
A |
17: 64,298,712 (GRCm39) |
|
probably null |
Het |
Hexb |
A |
G |
13: 97,317,584 (GRCm39) |
|
probably benign |
Het |
Ints5 |
T |
C |
19: 8,875,014 (GRCm39) |
L991P |
probably damaging |
Het |
Itga5 |
T |
C |
15: 103,259,261 (GRCm39) |
D722G |
possibly damaging |
Het |
Jup |
A |
G |
11: 100,267,565 (GRCm39) |
I586T |
probably benign |
Het |
Lig4 |
A |
G |
8: 10,022,103 (GRCm39) |
I559T |
possibly damaging |
Het |
Mcm3ap |
A |
G |
10: 76,343,300 (GRCm39) |
I1731V |
probably benign |
Het |
Mfsd13a |
T |
G |
19: 46,356,192 (GRCm39) |
V99G |
possibly damaging |
Het |
Nelfcd |
A |
G |
2: 174,264,391 (GRCm39) |
H153R |
probably damaging |
Het |
Nlrp1b |
A |
G |
11: 71,060,637 (GRCm39) |
Y724H |
possibly damaging |
Het |
Npas3 |
C |
A |
12: 53,548,048 (GRCm39) |
N101K |
probably damaging |
Het |
Nuf2 |
A |
G |
1: 169,334,807 (GRCm39) |
|
probably benign |
Het |
Or10am5 |
T |
C |
7: 6,517,682 (GRCm39) |
T249A |
probably damaging |
Het |
Or11g7 |
C |
T |
14: 50,691,442 (GRCm39) |
T311I |
probably damaging |
Het |
Or5c1 |
A |
T |
2: 37,222,013 (GRCm39) |
M85L |
probably benign |
Het |
Polr3c |
A |
G |
3: 96,621,628 (GRCm39) |
Y423H |
probably damaging |
Het |
Pomgnt2 |
A |
G |
9: 121,811,956 (GRCm39) |
L275P |
probably damaging |
Het |
Ptprj |
T |
G |
2: 90,298,808 (GRCm39) |
|
probably null |
Het |
Pxdn |
T |
C |
12: 30,053,156 (GRCm39) |
I931T |
probably damaging |
Het |
Rad51b |
C |
T |
12: 79,371,856 (GRCm39) |
Q190* |
probably null |
Het |
Rpl10a |
T |
C |
17: 28,547,967 (GRCm39) |
I36T |
probably damaging |
Het |
Tagap1 |
T |
C |
17: 7,223,781 (GRCm39) |
H305R |
probably damaging |
Het |
Tmem154 |
A |
G |
3: 84,591,508 (GRCm39) |
|
probably benign |
Het |
Vil1 |
A |
G |
1: 74,457,682 (GRCm39) |
E105G |
probably benign |
Het |
Wdfy4 |
C |
A |
14: 32,798,241 (GRCm39) |
C2055F |
probably damaging |
Het |
Zfat |
T |
C |
15: 68,052,963 (GRCm39) |
N277S |
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 |
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 |
|
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 |
2015-12-18 |