Incidental Mutation 'IGL03386:Thnsl1'
| ID |
420878 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Thnsl1
|
| Ensembl Gene |
ENSMUSG00000048550 |
| Gene Name |
threonine synthase-like 1 (bacterial) |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
IGL03386
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
21210535-21219820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 21216359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 38
(A38T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052452
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054591]
[ENSMUST00000102951]
[ENSMUST00000102952]
[ENSMUST00000138914]
[ENSMUST00000138965]
|
| AlphaFold |
Q8BH55 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054591
AA Change: A38T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000052452
Gene: ENSMUSG00000048550
AA Change: A38T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_17
|
57 |
202 |
2e-8 |
PFAM |
|
Pfam:SKI
|
64 |
221 |
5.8e-40 |
PFAM |
|
Pfam:Thr_synth_N
|
230 |
318 |
3.2e-16 |
PFAM |
|
Pfam:PALP
|
326 |
659 |
2.2e-9 |
PFAM |
|
low complexity region
|
684 |
701 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102951
|
| SMART Domains |
Protein: ENSMUSP00000100016
Gene: ENSMUSG00000048550
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1KL7|B
|
2 |
158 |
2e-27 |
PDB |
|
SCOP:d1kl7a_
|
2 |
214 |
7e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102952
|
| SMART Domains |
Protein: ENSMUSP00000100017
Gene: ENSMUSG00000048550
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1KL7|B
|
2 |
158 |
2e-27 |
PDB |
|
SCOP:d1kl7a_
|
2 |
214 |
7e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138914
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138965
|
| SMART Domains |
Protein: ENSMUSP00000115186
Gene: ENSMUSG00000048550
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1KL7|B
|
2 |
93 |
5e-16 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
C |
15: 96,259,455 (GRCm39) |
F236L |
probably damaging |
Het |
| AU018091 |
T |
C |
7: 3,211,107 (GRCm39) |
Y274C |
probably damaging |
Het |
| BC024139 |
A |
G |
15: 76,005,945 (GRCm39) |
F419L |
probably benign |
Het |
| Cd300ld |
T |
G |
11: 114,874,998 (GRCm39) |
D212A |
probably benign |
Het |
| Ces1g |
T |
C |
8: 94,052,440 (GRCm39) |
H283R |
probably benign |
Het |
| Chac2 |
T |
A |
11: 30,927,720 (GRCm39) |
K66N |
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,091,092 (GRCm39) |
|
probably null |
Het |
| Eml6 |
G |
A |
11: 29,699,934 (GRCm39) |
A1734V |
probably benign |
Het |
| Erich3 |
G |
A |
3: 154,444,876 (GRCm39) |
E548K |
possibly damaging |
Het |
| Gm3604 |
T |
A |
13: 62,517,981 (GRCm39) |
E105D |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,831,057 (GRCm39) |
K719R |
probably damaging |
Het |
| Heatr6 |
T |
C |
11: 83,650,203 (GRCm39) |
S220P |
probably damaging |
Het |
| Kcnip4 |
T |
C |
5: 48,639,889 (GRCm39) |
Y74C |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,273,396 (GRCm39) |
H2380R |
possibly damaging |
Het |
| Lars2 |
A |
T |
9: 123,282,455 (GRCm39) |
K680* |
probably null |
Het |
| Macc1 |
T |
A |
12: 119,409,598 (GRCm39) |
M122K |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,772,049 (GRCm39) |
D381G |
probably damaging |
Het |
| Phf11d |
A |
G |
14: 59,599,309 (GRCm39) |
|
probably benign |
Het |
| Qrsl1 |
A |
G |
10: 43,752,546 (GRCm39) |
Y426H |
possibly damaging |
Het |
| Riok1 |
T |
A |
13: 38,241,213 (GRCm39) |
L456* |
probably null |
Het |
| Rps6kc1 |
A |
G |
1: 190,531,767 (GRCm39) |
L745P |
probably damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,106,382 (GRCm39) |
H137L |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,069,315 (GRCm39) |
K704E |
possibly damaging |
Het |
| Shroom3 |
T |
A |
5: 93,096,342 (GRCm39) |
|
probably benign |
Het |
| Stac2 |
T |
A |
11: 97,931,966 (GRCm39) |
Q103L |
possibly damaging |
Het |
| Traf3ip2 |
A |
G |
10: 39,521,704 (GRCm39) |
I421V |
probably benign |
Het |
| Vmn2r14 |
T |
C |
5: 109,368,350 (GRCm39) |
D214G |
possibly damaging |
Het |
|
| Other mutations in Thnsl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Thnsl1
|
APN |
2 |
21,217,260 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL00756:Thnsl1
|
APN |
2 |
21,217,423 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00952:Thnsl1
|
APN |
2 |
21,216,767 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01020:Thnsl1
|
APN |
2 |
21,217,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01350:Thnsl1
|
APN |
2 |
21,217,011 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01476:Thnsl1
|
APN |
2 |
21,216,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01548:Thnsl1
|
APN |
2 |
21,217,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01916:Thnsl1
|
APN |
2 |
21,217,476 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02176:Thnsl1
|
APN |
2 |
21,216,665 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03001:Thnsl1
|
APN |
2 |
21,216,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03219:Thnsl1
|
APN |
2 |
21,217,217 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0684:Thnsl1
|
UTSW |
2 |
21,216,477 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0738:Thnsl1
|
UTSW |
2 |
21,218,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1119:Thnsl1
|
UTSW |
2 |
21,217,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1121:Thnsl1
|
UTSW |
2 |
21,216,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2150:Thnsl1
|
UTSW |
2 |
21,217,344 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3545:Thnsl1
|
UTSW |
2 |
21,217,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3547:Thnsl1
|
UTSW |
2 |
21,217,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4244:Thnsl1
|
UTSW |
2 |
21,217,059 (GRCm39) |
missense |
probably benign |
|
|
R4245:Thnsl1
|
UTSW |
2 |
21,217,059 (GRCm39) |
missense |
probably benign |
|
|
R4510:Thnsl1
|
UTSW |
2 |
21,217,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4511:Thnsl1
|
UTSW |
2 |
21,217,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4678:Thnsl1
|
UTSW |
2 |
21,216,352 (GRCm39) |
splice site |
probably null |
|
|
R4753:Thnsl1
|
UTSW |
2 |
21,218,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4795:Thnsl1
|
UTSW |
2 |
21,216,856 (GRCm39) |
nonsense |
probably null |
|
|
R4796:Thnsl1
|
UTSW |
2 |
21,216,856 (GRCm39) |
nonsense |
probably null |
|
|
R5584:Thnsl1
|
UTSW |
2 |
21,218,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Thnsl1
|
UTSW |
2 |
21,217,201 (GRCm39) |
nonsense |
probably null |
|
|
R5682:Thnsl1
|
UTSW |
2 |
21,216,879 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5718:Thnsl1
|
UTSW |
2 |
21,216,811 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6159:Thnsl1
|
UTSW |
2 |
21,217,016 (GRCm39) |
nonsense |
probably null |
|
|
R6795:Thnsl1
|
UTSW |
2 |
21,218,303 (GRCm39) |
nonsense |
probably null |
|
|
R7084:Thnsl1
|
UTSW |
2 |
21,217,141 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7153:Thnsl1
|
UTSW |
2 |
21,217,764 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7243:Thnsl1
|
UTSW |
2 |
21,217,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7265:Thnsl1
|
UTSW |
2 |
21,217,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7481:Thnsl1
|
UTSW |
2 |
21,216,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8005:Thnsl1
|
UTSW |
2 |
21,216,755 (GRCm39) |
missense |
probably benign |
|
|
R8223:Thnsl1
|
UTSW |
2 |
21,216,924 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8331:Thnsl1
|
UTSW |
2 |
21,216,985 (GRCm39) |
missense |
probably benign |
|
|
R8548:Thnsl1
|
UTSW |
2 |
21,217,733 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8798:Thnsl1
|
UTSW |
2 |
21,217,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation