Incidental Mutation 'IGL00160:Thnsl1'
| ID |
1920 |
| 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 # |
IGL00160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
21210535-21219820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21217260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 338
(F338S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052452
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054591]
[ENSMUST00000102951]
[ENSMUST00000102952]
[ENSMUST00000138914]
[ENSMUST00000138965]
|
| AlphaFold |
Q8BH55 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054591
AA Change: F338S
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000052452
Gene: ENSMUSG00000048550
AA Change: F338S
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
T |
2: 68,563,219 (GRCm39) |
A387V |
probably benign |
Het |
| Adamts3 |
C |
T |
5: 90,009,184 (GRCm39) |
V160I |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,247,804 (GRCm39) |
V296A |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,197,706 (GRCm39) |
M893K |
probably benign |
Het |
| Camk2d |
T |
A |
3: 126,631,921 (GRCm39) |
C407* |
probably null |
Het |
| Ces1h |
T |
C |
8: 94,084,091 (GRCm39) |
D373G |
probably benign |
Het |
| Ces2f |
A |
T |
8: 105,676,605 (GRCm39) |
N100Y |
probably damaging |
Het |
| Ces2f |
A |
T |
8: 105,676,604 (GRCm39) |
Q99H |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,241,229 (GRCm39) |
T223A |
probably damaging |
Het |
| Dnai7 |
T |
A |
6: 145,121,016 (GRCm39) |
H601L |
probably benign |
Het |
| Dnmt3l |
A |
G |
10: 77,893,189 (GRCm39) |
D322G |
probably damaging |
Het |
| Fam243 |
T |
C |
16: 92,117,890 (GRCm39) |
K133E |
possibly damaging |
Het |
| Fbxl20 |
C |
T |
11: 97,981,500 (GRCm39) |
G396D |
possibly damaging |
Het |
| Garre1 |
G |
A |
7: 33,938,431 (GRCm39) |
H1035Y |
possibly damaging |
Het |
| Gldc |
T |
C |
19: 30,092,640 (GRCm39) |
T760A |
probably damaging |
Het |
| Gm6483 |
T |
A |
8: 19,741,663 (GRCm39) |
|
noncoding transcript |
Het |
| Hcrtr2 |
A |
T |
9: 76,135,437 (GRCm39) |
V460D |
possibly damaging |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mrgpra2a |
A |
T |
7: 47,076,286 (GRCm39) |
M324K |
probably damaging |
Het |
| N4bp3 |
C |
T |
11: 51,536,143 (GRCm39) |
A230T |
probably benign |
Het |
| Nphs1 |
T |
G |
7: 30,181,976 (GRCm39) |
W1204G |
possibly damaging |
Het |
| Obscn |
C |
A |
11: 58,892,883 (GRCm39) |
A6788S |
probably benign |
Het |
| Ofcc1 |
T |
C |
13: 40,296,280 (GRCm39) |
D518G |
probably damaging |
Het |
| Optc |
T |
C |
1: 133,829,846 (GRCm39) |
Y188C |
probably damaging |
Het |
| Prss45 |
C |
A |
9: 110,670,073 (GRCm39) |
A285E |
probably damaging |
Het |
| Rcan2 |
C |
T |
17: 44,347,960 (GRCm39) |
T223I |
possibly damaging |
Het |
| Snrnp70 |
A |
G |
7: 45,026,778 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
T |
A |
19: 40,306,473 (GRCm39) |
T1064S |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,669,943 (GRCm39) |
K462E |
probably damaging |
Het |
| Sstr1 |
A |
G |
12: 58,259,536 (GRCm39) |
E53G |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,686,354 (GRCm39) |
|
probably null |
Het |
| Tex35 |
G |
A |
1: 156,927,326 (GRCm39) |
|
probably benign |
Het |
| Trpv1 |
C |
T |
11: 73,151,188 (GRCm39) |
A424V |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,693,554 (GRCm39) |
H2535L |
possibly damaging |
Het |
| Usp46 |
T |
C |
5: 74,163,347 (GRCm39) |
E333G |
probably null |
Het |
| Vmn1r27 |
T |
C |
6: 58,192,119 (GRCm39) |
Y245C |
probably benign |
Het |
| Zfp488 |
T |
C |
14: 33,693,026 (GRCm39) |
M46V |
probably benign |
Het |
| Zfp566 |
G |
T |
7: 29,777,936 (GRCm39) |
Q82K |
probably benign |
Het |
| Znhit6 |
T |
C |
3: 145,283,915 (GRCm39) |
S62P |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,239,039 (GRCm39) |
H108R |
probably damaging |
Het |
|
| Other mutations in Thnsl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2011-07-12 |
Incidental Mutation