Incidental Mutation 'R0085:Lig1'
| ID |
19852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lig1
|
| Ensembl Gene |
ENSMUSG00000056394 |
| Gene Name |
ligase I, DNA, ATP-dependent |
| Synonyms |
mLigI, LigI |
| MMRRC Submission |
038372-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0085 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
13011239-13045350 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13041495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 776
(I776V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098814]
[ENSMUST00000165964]
[ENSMUST00000177588]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098814
AA Change: I776V
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000096411
Gene: ENSMUSG00000056394
AA Change: I776V
| 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 |
possibly damaging
Transcript: ENSMUST00000165964
AA Change: I776V
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126525
Gene: ENSMUSG00000056394
AA Change: I776V
| 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 |
possibly damaging
Transcript: ENSMUST00000177588
AA Change: I776V
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000136972
Gene: ENSMUSG00000056394
AA Change: I776V
| 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 |
|
| Meta Mutation Damage Score |
0.1715 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.4%
|
| Validation Efficiency |
95% (71/75) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
A |
G |
5: 121,742,357 (GRCm39) |
I417T |
possibly damaging |
Het |
| Adcy9 |
T |
C |
16: 4,106,088 (GRCm39) |
T1009A |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Baat |
T |
C |
4: 49,490,425 (GRCm39) |
|
probably benign |
Het |
| Bpi |
T |
A |
2: 158,115,072 (GRCm39) |
L311* |
probably null |
Het |
| Brd2 |
A |
C |
17: 34,332,233 (GRCm39) |
F294L |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,209,850 (GRCm39) |
E804D |
probably benign |
Het |
| Cd209g |
A |
T |
8: 4,184,785 (GRCm39) |
|
probably benign |
Het |
| Cfi |
A |
G |
3: 129,668,635 (GRCm39) |
I554V |
probably benign |
Het |
| Clvs2 |
G |
C |
10: 33,498,542 (GRCm39) |
S129R |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,268,268 (GRCm39) |
S2897P |
probably damaging |
Het |
| Efcab7 |
T |
C |
4: 99,761,877 (GRCm39) |
|
probably benign |
Het |
| Fbxo2 |
T |
C |
4: 148,249,367 (GRCm39) |
|
probably null |
Het |
| Fgfr2 |
C |
A |
7: 129,797,993 (GRCm39) |
R400L |
probably damaging |
Het |
| Hsd17b14 |
T |
C |
7: 45,205,834 (GRCm39) |
|
probably benign |
Het |
| Il23r |
T |
C |
6: 67,463,206 (GRCm39) |
N96D |
probably damaging |
Het |
| Ints13 |
T |
A |
6: 146,476,285 (GRCm39) |
|
probably benign |
Het |
| Khdc4 |
T |
A |
3: 88,619,046 (GRCm39) |
S583R |
probably damaging |
Het |
| Madd |
T |
C |
2: 90,993,083 (GRCm39) |
I997V |
probably benign |
Het |
| Mgat4b |
C |
T |
11: 50,121,826 (GRCm39) |
H116Y |
possibly damaging |
Het |
| Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
| Myo5b |
A |
C |
18: 74,834,751 (GRCm39) |
D937A |
probably benign |
Het |
| Nox3 |
T |
C |
17: 3,685,556 (GRCm39) |
N584S |
probably benign |
Het |
| Ogfr |
A |
G |
2: 180,232,830 (GRCm39) |
|
probably null |
Het |
| Or11g25 |
T |
A |
14: 50,723,791 (GRCm39) |
M292K |
probably benign |
Het |
| Or13p3 |
T |
C |
4: 118,567,078 (GRCm39) |
V158A |
probably benign |
Het |
| Or8b1b |
T |
C |
9: 38,375,958 (GRCm39) |
I207T |
probably benign |
Het |
| Osbpl6 |
G |
T |
2: 76,423,758 (GRCm39) |
V728F |
probably benign |
Het |
| Picalm |
T |
A |
7: 89,831,525 (GRCm39) |
S453T |
probably benign |
Het |
| Piezo1 |
A |
G |
8: 123,228,354 (GRCm39) |
L310P |
probably damaging |
Het |
| Pitrm1 |
C |
T |
13: 6,599,604 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,805,197 (GRCm39) |
F3250L |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,193,373 (GRCm39) |
R376* |
probably null |
Het |
| Pnma8b |
A |
T |
7: 16,679,474 (GRCm39) |
S153C |
unknown |
Het |
| Rp1l1 |
C |
T |
14: 64,259,744 (GRCm39) |
R129W |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,690,108 (GRCm39) |
V1147A |
probably damaging |
Het |
| Sema3d |
G |
A |
5: 12,620,953 (GRCm39) |
V520I |
probably benign |
Het |
| Sgsm1 |
A |
G |
5: 113,427,136 (GRCm39) |
|
probably benign |
Het |
| Slc13a2 |
A |
G |
11: 78,297,694 (GRCm39) |
V58A |
probably damaging |
Het |
| Slc1a4 |
A |
G |
11: 20,254,510 (GRCm39) |
|
probably benign |
Het |
| Slc4a10 |
G |
A |
2: 62,074,690 (GRCm39) |
|
probably benign |
Het |
| Tab1 |
G |
T |
15: 80,040,094 (GRCm39) |
A305S |
probably benign |
Het |
| Tmem30a |
T |
A |
9: 79,678,576 (GRCm39) |
T327S |
probably benign |
Het |
| Tpr |
A |
C |
1: 150,293,164 (GRCm39) |
E863A |
possibly damaging |
Het |
| Upk3bl |
A |
G |
5: 136,088,969 (GRCm39) |
N161D |
probably benign |
Het |
| Ush1c |
T |
A |
7: 45,874,979 (GRCm39) |
I131F |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,800,200 (GRCm39) |
R1975S |
possibly damaging |
Het |
| Zbtb18 |
C |
T |
1: 177,275,501 (GRCm39) |
A287V |
probably benign |
Het |
| Zfp712 |
T |
C |
13: 67,189,256 (GRCm39) |
T424A |
probably benign |
Het |
| Zfp791 |
G |
T |
8: 85,838,862 (GRCm39) |
Y56* |
probably null |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTGATGCTCCTCACACACCTC -3'
(R):5'- GGCAGCTACCTGCAACTGCTTATG -3'
Sequencing Primer
(F):5'- ACACACCTCCAGCTCATTTG -3'
(R):5'- TCAGAGTTGATTGAACAcatgc -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation