Incidental Mutation 'IGL03327:Lig1'
ID |
416674 |
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 # |
IGL03327
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
13011239-13045350 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 13037781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 677
(I677S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136972
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098814]
[ENSMUST00000177588]
[ENSMUST00000165964]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098814
AA Change: I677S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096411 Gene: ENSMUSG00000056394 AA Change: I677S
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 |
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: ENSMUST00000177588
AA Change: I677S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000136972 Gene: ENSMUSG00000056394 AA Change: I677S
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 damaging
Transcript: ENSMUST00000165964
AA Change: I677S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126525 Gene: ENSMUSG00000056394 AA Change: I677S
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 |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
T |
C |
15: 64,792,116 (GRCm39) |
Y280C |
probably damaging |
Het |
Anapc1 |
T |
C |
2: 128,465,854 (GRCm39) |
T1647A |
probably benign |
Het |
Ano3 |
T |
C |
2: 110,527,523 (GRCm39) |
I562V |
possibly damaging |
Het |
Ash1l |
C |
T |
3: 88,930,390 (GRCm39) |
P1956S |
probably benign |
Het |
Ccdc9b |
T |
C |
2: 118,592,151 (GRCm39) |
N79S |
probably damaging |
Het |
Cd160 |
C |
T |
3: 96,712,849 (GRCm39) |
|
probably null |
Het |
Chd3 |
G |
T |
11: 69,241,012 (GRCm39) |
A1527E |
probably damaging |
Het |
Clcn1 |
C |
T |
6: 42,288,153 (GRCm39) |
T797I |
probably benign |
Het |
Cntnap3 |
G |
A |
13: 65,035,582 (GRCm39) |
Q44* |
probably null |
Het |
Cntnap4 |
A |
G |
8: 113,500,208 (GRCm39) |
D500G |
probably benign |
Het |
Col6a6 |
T |
C |
9: 105,644,433 (GRCm39) |
D1285G |
possibly damaging |
Het |
Cr2 |
A |
T |
1: 194,852,067 (GRCm39) |
V94E |
probably damaging |
Het |
Dcaf1 |
T |
C |
9: 106,735,823 (GRCm39) |
S924P |
possibly damaging |
Het |
Eif5b |
T |
C |
1: 38,080,772 (GRCm39) |
|
probably benign |
Het |
Fat1 |
A |
C |
8: 45,403,505 (GRCm39) |
K85N |
probably damaging |
Het |
Fnip2 |
T |
C |
3: 79,425,388 (GRCm39) |
E69G |
probably damaging |
Het |
Fzr1 |
T |
C |
10: 81,205,018 (GRCm39) |
T300A |
probably benign |
Het |
Galc |
A |
G |
12: 98,173,735 (GRCm39) |
|
probably benign |
Het |
Gm17079 |
T |
C |
14: 51,930,420 (GRCm39) |
T142A |
possibly damaging |
Het |
Hibch |
G |
A |
1: 52,959,539 (GRCm39) |
|
probably benign |
Het |
Hmmr |
A |
G |
11: 40,606,242 (GRCm39) |
C243R |
probably damaging |
Het |
Il25 |
T |
C |
14: 55,172,817 (GRCm39) |
|
probably benign |
Het |
Kif5b |
G |
A |
18: 6,222,767 (GRCm39) |
R355W |
probably damaging |
Het |
Kifc3 |
C |
T |
8: 95,835,060 (GRCm39) |
D242N |
probably damaging |
Het |
Lrig1 |
G |
T |
6: 94,583,104 (GRCm39) |
A1004E |
probably benign |
Het |
Nras |
A |
G |
3: 102,966,340 (GRCm39) |
T35A |
probably damaging |
Het |
Nt5c1b |
C |
T |
12: 10,424,861 (GRCm39) |
Q136* |
probably null |
Het |
Or4f54 |
A |
T |
2: 111,122,807 (GRCm39) |
N65Y |
probably damaging |
Het |
Or6c217 |
T |
G |
10: 129,738,451 (GRCm39) |
I43L |
possibly damaging |
Het |
Or8k1 |
C |
T |
2: 86,047,618 (GRCm39) |
W145* |
probably null |
Het |
Plcb3 |
A |
G |
19: 6,932,420 (GRCm39) |
F1080L |
probably benign |
Het |
Plpp2 |
T |
C |
10: 79,366,818 (GRCm39) |
|
probably null |
Het |
Ptpre |
G |
A |
7: 135,274,551 (GRCm39) |
|
probably null |
Het |
Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
Sh3bp4 |
C |
A |
1: 89,071,885 (GRCm39) |
Y244* |
probably null |
Het |
Trip11 |
A |
T |
12: 101,849,677 (GRCm39) |
N1462K |
possibly damaging |
Het |
Ttc21b |
T |
C |
2: 66,068,192 (GRCm39) |
D278G |
possibly damaging |
Het |
Virma |
A |
G |
4: 11,518,984 (GRCm39) |
T694A |
probably benign |
Het |
Wdr35 |
T |
C |
12: 9,028,694 (GRCm39) |
|
probably benign |
Het |
Xdh |
T |
C |
17: 74,223,787 (GRCm39) |
E535G |
probably benign |
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 |
|
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 |
|
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 |
2016-08-02 |