Incidental Mutation 'IGL03157:Thnsl2'
| ID |
411304 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Thnsl2
|
| Ensembl Gene |
ENSMUSG00000054474 |
| Gene Name |
threonine synthase-like 2 (bacterial) |
| Synonyms |
TSH2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
IGL03157
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
71105150-71121364 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71108930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 294
(T294A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074241]
[ENSMUST00000160918]
|
| AlphaFold |
Q80W22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074241
AA Change: T294A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000073861
Gene: ENSMUSG00000054474
AA Change: T294A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thr_synth_N
|
2 |
81 |
2.4e-27 |
PFAM |
|
Pfam:PALP
|
93 |
415 |
9.6e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160918
AA Change: T294A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000124423
Gene: ENSMUSG00000054474
AA Change: T294A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thr_synth_N
|
2 |
81 |
1.1e-27 |
PFAM |
|
Pfam:PALP
|
94 |
413 |
8.4e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170455
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000170753
AA Change: T9A
|
| SMART Domains |
Protein: ENSMUSP00000129994
Gene: ENSMUSG00000054474
AA Change: T9A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4F4F|B
|
2 |
122 |
1e-11 |
PDB |
|
SCOP:d1kl7a_
|
2 |
129 |
1e-10 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a threonine synthase-like protein. A similar enzyme in mouse can catalyze the degradation of O-phospho-homoserine to a-ketobutyrate, phosphate, and ammonia. This protein also has phospho-lyase activity on both gamma and beta phosphorylated substrates. In mouse an alternatively spliced form of this protein has been shown to act as a cytokine and can induce the production of the inflammatory cytokine IL6 in osteoblasts. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
G |
A |
6: 142,551,649 (GRCm39) |
|
probably benign |
Het |
| Adam30 |
A |
C |
3: 98,069,612 (GRCm39) |
K482Q |
possibly damaging |
Het |
| Aqp4 |
T |
C |
18: 15,533,037 (GRCm39) |
R19G |
probably benign |
Het |
| Arhgap32 |
C |
T |
9: 32,170,430 (GRCm39) |
P1070L |
probably damaging |
Het |
| Bcat2 |
T |
C |
7: 45,224,922 (GRCm39) |
I31T |
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,308,092 (GRCm39) |
C1283* |
probably null |
Het |
| Fasn |
A |
G |
11: 120,698,735 (GRCm39) |
I2487T |
probably benign |
Het |
| Gys1 |
A |
G |
7: 45,089,323 (GRCm39) |
|
probably benign |
Het |
| Helz |
A |
G |
11: 107,468,714 (GRCm39) |
D79G |
possibly damaging |
Het |
| Il16 |
T |
C |
7: 83,371,611 (GRCm39) |
D65G |
probably damaging |
Het |
| Iqgap1 |
C |
T |
7: 80,401,636 (GRCm39) |
E490K |
probably benign |
Het |
| Kcnv2 |
A |
G |
19: 27,301,366 (GRCm39) |
K406E |
probably damaging |
Het |
| Kif26b |
T |
A |
1: 178,743,930 (GRCm39) |
L1342H |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,440,372 (GRCm39) |
K650E |
possibly damaging |
Het |
| Opn1sw |
T |
A |
6: 29,379,803 (GRCm39) |
N144Y |
possibly damaging |
Het |
| Or2b2b |
T |
C |
13: 21,859,112 (GRCm39) |
M1V |
probably null |
Het |
| Or6z1 |
A |
G |
7: 6,504,892 (GRCm39) |
L111P |
probably damaging |
Het |
| Or8k30 |
T |
C |
2: 86,339,367 (GRCm39) |
L188P |
possibly damaging |
Het |
| Ovol1 |
T |
C |
19: 5,601,635 (GRCm39) |
H129R |
probably benign |
Het |
| Pigv |
T |
C |
4: 133,392,841 (GRCm39) |
S110G |
probably benign |
Het |
| Pole |
T |
A |
5: 110,441,619 (GRCm39) |
F253L |
probably benign |
Het |
| Samd3 |
T |
C |
10: 26,139,740 (GRCm39) |
Y291H |
probably benign |
Het |
| Slc4a4 |
T |
A |
5: 89,304,372 (GRCm39) |
I605N |
probably damaging |
Het |
| Sult1a1 |
T |
A |
7: 126,274,489 (GRCm39) |
Y58F |
probably damaging |
Het |
| Tfrc |
T |
A |
16: 32,439,223 (GRCm39) |
D362E |
probably benign |
Het |
| Tnfsf10 |
G |
A |
3: 27,380,106 (GRCm39) |
G57R |
possibly damaging |
Het |
| Vps25 |
A |
T |
11: 101,147,723 (GRCm39) |
N73I |
probably benign |
Het |
| Wdfy1 |
G |
A |
1: 79,684,035 (GRCm39) |
H367Y |
probably damaging |
Het |
| Zfp568 |
T |
C |
7: 29,722,189 (GRCm39) |
L378P |
probably damaging |
Het |
|
| Other mutations in Thnsl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Thnsl2
|
APN |
6 |
71,108,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00814:Thnsl2
|
APN |
6 |
71,116,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01139:Thnsl2
|
APN |
6 |
71,115,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01380:Thnsl2
|
APN |
6 |
71,115,740 (GRCm39) |
missense |
probably benign |
|
|
IGL01511:Thnsl2
|
APN |
6 |
71,116,777 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02000:Thnsl2
|
APN |
6 |
71,111,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0372:Thnsl2
|
UTSW |
6 |
71,116,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0380:Thnsl2
|
UTSW |
6 |
71,118,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0521:Thnsl2
|
UTSW |
6 |
71,111,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0815:Thnsl2
|
UTSW |
6 |
71,111,208 (GRCm39) |
nonsense |
probably null |
|
|
R0863:Thnsl2
|
UTSW |
6 |
71,111,208 (GRCm39) |
nonsense |
probably null |
|
|
R1300:Thnsl2
|
UTSW |
6 |
71,111,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2867:Thnsl2
|
UTSW |
6 |
71,108,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2867:Thnsl2
|
UTSW |
6 |
71,108,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4767:Thnsl2
|
UTSW |
6 |
71,111,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5578:Thnsl2
|
UTSW |
6 |
71,115,749 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5818:Thnsl2
|
UTSW |
6 |
71,111,127 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6627:Thnsl2
|
UTSW |
6 |
71,111,199 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6800:Thnsl2
|
UTSW |
6 |
71,118,264 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7192:Thnsl2
|
UTSW |
6 |
71,116,739 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7391:Thnsl2
|
UTSW |
6 |
71,108,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7516:Thnsl2
|
UTSW |
6 |
71,108,990 (GRCm39) |
nonsense |
probably null |
|
|
R7565:Thnsl2
|
UTSW |
6 |
71,118,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7980:Thnsl2
|
UTSW |
6 |
71,115,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7988:Thnsl2
|
UTSW |
6 |
71,118,303 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8170:Thnsl2
|
UTSW |
6 |
71,106,317 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8917:Thnsl2
|
UTSW |
6 |
71,116,927 (GRCm39) |
missense |
probably benign |
|
|
R9547:Thnsl2
|
UTSW |
6 |
71,116,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9696:Thnsl2
|
UTSW |
6 |
71,108,930 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0021:Thnsl2
|
UTSW |
6 |
71,105,688 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0066:Thnsl2
|
UTSW |
6 |
71,116,821 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Thnsl2
|
UTSW |
6 |
71,105,825 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2016-08-02 |
Incidental Mutation