Incidental Mutation 'IGL01020:Thnsl1'
ID |
53456 |
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: 0.083)
|
Stock # |
IGL01020
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
21210535-21219820 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21217305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 353
(L353S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052452
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054591]
[ENSMUST00000102951]
[ENSMUST00000102952]
[ENSMUST00000138914]
[ENSMUST00000138965]
|
AlphaFold |
Q8BH55 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054591
AA Change: L353S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000052452 Gene: ENSMUSG00000048550 AA Change: L353S
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt3 |
T |
G |
1: 176,958,533 (GRCm39) |
|
probably benign |
Het |
Aldh18a1 |
C |
T |
19: 40,557,625 (GRCm39) |
|
probably benign |
Het |
Arhgap32 |
A |
G |
9: 32,168,657 (GRCm39) |
H880R |
probably benign |
Het |
Arhgef7 |
G |
A |
8: 11,832,540 (GRCm39) |
S5N |
probably damaging |
Het |
Atp6v1e1 |
T |
C |
6: 120,785,372 (GRCm39) |
M40V |
possibly damaging |
Het |
Atr |
T |
C |
9: 95,744,836 (GRCm39) |
V51A |
probably damaging |
Het |
Atxn10 |
A |
G |
15: 85,259,623 (GRCm39) |
|
probably null |
Het |
Btbd16 |
T |
A |
7: 130,426,091 (GRCm39) |
I502N |
probably damaging |
Het |
Celsr2 |
G |
T |
3: 108,310,586 (GRCm39) |
L1499M |
probably damaging |
Het |
Cfl1 |
C |
T |
19: 5,543,709 (GRCm39) |
|
probably benign |
Het |
Cul9 |
T |
C |
17: 46,849,949 (GRCm39) |
E500G |
probably damaging |
Het |
Dusp3 |
G |
T |
11: 101,875,470 (GRCm39) |
N31K |
probably benign |
Het |
Erbb4 |
A |
T |
1: 68,337,608 (GRCm39) |
|
probably benign |
Het |
Fam234b |
G |
A |
6: 135,188,904 (GRCm39) |
V170M |
probably benign |
Het |
Fign |
A |
G |
2: 63,809,354 (GRCm39) |
S639P |
probably damaging |
Het |
Gbp7 |
A |
G |
3: 142,248,618 (GRCm39) |
T294A |
probably benign |
Het |
Golm2 |
G |
A |
2: 121,756,203 (GRCm39) |
V411I |
probably benign |
Het |
Ift80 |
C |
T |
3: 68,871,012 (GRCm39) |
D195N |
probably damaging |
Het |
Kif21b |
G |
T |
1: 136,081,832 (GRCm39) |
|
probably benign |
Het |
Kif2c |
A |
T |
4: 117,024,101 (GRCm39) |
F397I |
probably damaging |
Het |
Lamc3 |
T |
C |
2: 31,804,668 (GRCm39) |
V567A |
probably benign |
Het |
Letmd1 |
T |
C |
15: 100,369,640 (GRCm39) |
M36T |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,888,259 (GRCm39) |
W2220R |
probably damaging |
Het |
Mical2 |
T |
A |
7: 111,914,283 (GRCm39) |
|
probably benign |
Het |
Mtif2 |
A |
G |
11: 29,494,973 (GRCm39) |
D691G |
possibly damaging |
Het |
Myh8 |
G |
A |
11: 67,174,229 (GRCm39) |
V189M |
probably damaging |
Het |
Myo9b |
G |
A |
8: 71,804,644 (GRCm39) |
R1418K |
probably benign |
Het |
Nkpd1 |
G |
A |
7: 19,252,674 (GRCm39) |
V7M |
possibly damaging |
Het |
Nrxn2 |
G |
A |
19: 6,543,473 (GRCm39) |
V1116I |
probably benign |
Het |
Nynrin |
A |
G |
14: 56,105,905 (GRCm39) |
M875V |
probably benign |
Het |
Oat |
T |
C |
7: 132,168,902 (GRCm39) |
|
probably null |
Het |
Or7g35 |
G |
A |
9: 19,496,616 (GRCm39) |
S261N |
possibly damaging |
Het |
Or8g24 |
A |
C |
9: 38,989,747 (GRCm39) |
I98R |
probably damaging |
Het |
Prkaa2 |
C |
T |
4: 104,932,659 (GRCm39) |
R63Q |
probably damaging |
Het |
Psg29 |
T |
A |
7: 16,942,657 (GRCm39) |
S219R |
probably benign |
Het |
Ptprc |
T |
C |
1: 138,047,911 (GRCm39) |
|
probably null |
Het |
Pwwp2b |
G |
T |
7: 138,834,771 (GRCm39) |
E71* |
probably null |
Het |
Robo2 |
T |
C |
16: 73,725,039 (GRCm39) |
T1055A |
probably benign |
Het |
Serpina9 |
T |
A |
12: 103,974,845 (GRCm39) |
N103Y |
probably damaging |
Het |
Sis |
T |
C |
3: 72,874,171 (GRCm39) |
E10G |
probably damaging |
Het |
Tbck |
C |
T |
3: 132,432,903 (GRCm39) |
Q438* |
probably null |
Het |
Tmem237 |
C |
A |
1: 59,146,612 (GRCm39) |
|
probably null |
Het |
Tuba3a |
C |
T |
6: 125,258,303 (GRCm39) |
R229H |
probably damaging |
Het |
Zbtb2 |
A |
G |
10: 4,319,702 (GRCm39) |
I108T |
probably benign |
Het |
Zfp345 |
T |
C |
2: 150,314,967 (GRCm39) |
N190S |
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 |
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 |
IGL03386:Thnsl1
|
APN |
2 |
21,216,359 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
2013-06-28 |