Incidental Mutation 'R7597:Lig1'
ID |
587783 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lig1
|
Ensembl Gene |
ENSMUSG00000056394 |
Gene Name |
ligase I, DNA, ATP-dependent |
Synonyms |
mLigI, LigI |
MMRRC Submission |
045672-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7597 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
13011239-13045350 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 13030270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 416
(S416A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096411
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098814]
[ENSMUST00000146998]
[ENSMUST00000165964]
[ENSMUST00000177588]
[ENSMUST00000185145]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098814
AA Change: S416A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000096411 Gene: ENSMUSG00000056394 AA Change: S416A
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: 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 |
probably benign
Transcript: ENSMUST00000165964
AA Change: S416A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000126525 Gene: ENSMUSG00000056394 AA Change: S416A
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: S416A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000136972 Gene: ENSMUSG00000056394 AA Change: S416A
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
G |
7: 45,644,661 (GRCm39) |
L838P |
probably damaging |
Het |
Adam34l |
T |
G |
8: 44,078,281 (GRCm39) |
N648H |
probably damaging |
Het |
Adgrl4 |
T |
A |
3: 151,248,895 (GRCm39) |
F728I |
probably damaging |
Het |
Asap1 |
A |
G |
15: 64,184,304 (GRCm39) |
V7A |
probably benign |
Het |
B230104I21Rik |
A |
G |
4: 154,434,050 (GRCm39) |
|
probably benign |
Het |
C4b |
A |
T |
17: 34,958,649 (GRCm39) |
S562T |
probably benign |
Het |
Carmil2 |
A |
G |
8: 106,422,121 (GRCm39) |
Y1130C |
probably damaging |
Het |
Cit |
A |
T |
5: 116,024,740 (GRCm39) |
K328* |
probably null |
Het |
Col18a1 |
T |
C |
10: 76,949,137 (GRCm39) |
D125G |
unknown |
Het |
Cxadr |
T |
C |
16: 78,125,996 (GRCm39) |
V122A |
probably damaging |
Het |
Cyp2d22 |
G |
A |
15: 82,260,053 (GRCm39) |
P44S |
probably damaging |
Het |
Elapor1 |
A |
G |
3: 108,378,745 (GRCm39) |
V351A |
possibly damaging |
Het |
Gabrr1 |
A |
G |
4: 33,148,964 (GRCm39) |
T74A |
probably benign |
Het |
Gfm2 |
C |
A |
13: 97,309,086 (GRCm39) |
A597E |
probably benign |
Het |
H2-T22 |
T |
C |
17: 36,351,408 (GRCm39) |
Y274C |
probably damaging |
Het |
Has2 |
C |
A |
15: 56,531,817 (GRCm39) |
W299C |
probably damaging |
Het |
Hsd17b6 |
A |
G |
10: 127,827,227 (GRCm39) |
S282P |
probably benign |
Het |
Itga1 |
T |
C |
13: 115,110,676 (GRCm39) |
I972V |
probably benign |
Het |
Itih5 |
T |
A |
2: 10,254,187 (GRCm39) |
Y813N |
probably damaging |
Het |
Kctd16 |
A |
G |
18: 40,663,848 (GRCm39) |
T326A |
possibly damaging |
Het |
Klhdc1 |
T |
C |
12: 69,316,642 (GRCm39) |
S342P |
probably damaging |
Het |
Kmt2a |
T |
C |
9: 44,742,650 (GRCm39) |
I1682M |
unknown |
Het |
Lamc1 |
T |
C |
1: 153,116,200 (GRCm39) |
K994E |
possibly damaging |
Het |
Lims1 |
A |
G |
10: 58,248,263 (GRCm39) |
E240G |
probably damaging |
Het |
Lnpk |
T |
C |
2: 74,399,316 (GRCm39) |
M76V |
probably benign |
Het |
Lrrtm4 |
T |
A |
6: 79,999,428 (GRCm39) |
L280* |
probably null |
Het |
Mfap3l |
A |
T |
8: 61,124,315 (GRCm39) |
I186F |
possibly damaging |
Het |
Mta3 |
T |
C |
17: 84,083,011 (GRCm39) |
F234L |
probably benign |
Het |
Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
Mybpc2 |
C |
T |
7: 44,159,223 (GRCm39) |
G609D |
probably damaging |
Het |
Naga |
A |
T |
15: 82,219,035 (GRCm39) |
D237E |
probably benign |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Nbn |
G |
A |
4: 15,963,911 (GRCm39) |
S104N |
probably damaging |
Het |
Nipsnap2 |
T |
C |
5: 129,816,637 (GRCm39) |
L60P |
probably damaging |
Het |
Or4f47 |
T |
A |
2: 111,972,925 (GRCm39) |
F212I |
probably benign |
Het |
Or8b1b |
G |
A |
9: 38,375,802 (GRCm39) |
G155D |
probably benign |
Het |
Pclo |
C |
T |
5: 14,727,601 (GRCm39) |
T2153I |
unknown |
Het |
Pclo |
A |
C |
5: 14,908,869 (GRCm39) |
K5059T |
unknown |
Het |
Pdlim2 |
C |
A |
14: 70,403,645 (GRCm39) |
A256S |
possibly damaging |
Het |
Pira2 |
T |
C |
7: 3,845,460 (GRCm39) |
D308G |
probably damaging |
Het |
Proc |
G |
T |
18: 32,256,689 (GRCm39) |
A326E |
probably damaging |
Het |
Rab40b |
T |
C |
11: 121,248,709 (GRCm39) |
D182G |
probably benign |
Het |
Rai14 |
A |
G |
15: 10,574,937 (GRCm39) |
S703P |
possibly damaging |
Het |
Rdx |
C |
T |
9: 51,972,196 (GRCm39) |
P2L |
possibly damaging |
Het |
Recql5 |
T |
C |
11: 115,819,207 (GRCm39) |
K120E |
probably benign |
Het |
Rev3l |
C |
T |
10: 39,698,880 (GRCm39) |
R1126C |
probably damaging |
Het |
Slc2a6 |
G |
T |
2: 26,917,195 (GRCm39) |
D70E |
possibly damaging |
Het |
Slc6a17 |
A |
T |
3: 107,378,668 (GRCm39) |
D671E |
possibly damaging |
Het |
Slc7a8 |
G |
A |
14: 55,018,857 (GRCm39) |
|
probably benign |
Het |
Srpk2 |
A |
G |
5: 23,753,517 (GRCm39) |
Y79H |
possibly damaging |
Het |
Traf3ip1 |
T |
A |
1: 91,439,167 (GRCm39) |
I361K |
probably damaging |
Het |
Trpm8 |
A |
G |
1: 88,255,918 (GRCm39) |
Y191C |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,803,812 (GRCm39) |
V1135A |
possibly damaging |
Het |
Usp12 |
C |
A |
5: 146,691,179 (GRCm39) |
|
probably null |
Het |
Vmn1r44 |
C |
A |
6: 89,870,818 (GRCm39) |
P188Q |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,356,099 (GRCm39) |
V3620D |
possibly damaging |
Het |
Zcchc14 |
A |
T |
8: 122,335,239 (GRCm39) |
S294T |
unknown |
Het |
Zfp800 |
T |
C |
6: 28,260,764 (GRCm39) |
D5G |
probably damaging |
Het |
Zfp87 |
C |
T |
13: 67,665,412 (GRCm39) |
R350Q |
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 |
|
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 |
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'- AGGTTACTGCAGTGTCGTCTTC -3'
(R):5'- AACAAGCATTAACAAGTGTCCTGAC -3'
Sequencing Primer
(F):5'- ACTGCAGTGTCGTCTTCTACTTTC -3'
(R):5'- CCAAGAGATGCTAGGTTCTCCAG -3'
|
Posted On |
2019-10-24 |