Incidental Mutation 'IGL00814:Thnsl2'
| ID |
14454 |
| 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 # |
IGL00814
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
71105150-71121364 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 71116867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 95
(L95R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074241]
[ENSMUST00000160918]
|
| AlphaFold |
Q80W22 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074241
AA Change: L95R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073861
Gene: ENSMUSG00000054474
AA Change: L95R
| 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 damaging
Transcript: ENSMUST00000160918
AA Change: L95R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124423
Gene: ENSMUSG00000054474
AA Change: L95R
| 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
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cops6 |
G |
T |
5: 138,161,640 (GRCm39) |
R58L |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,470,894 (GRCm39) |
M262K |
probably damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Gria4 |
A |
T |
9: 4,472,202 (GRCm39) |
M429K |
probably damaging |
Het |
| Hipk2 |
G |
A |
6: 38,795,484 (GRCm39) |
R262W |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,844,389 (GRCm39) |
I143K |
possibly damaging |
Het |
| Mbtd1 |
T |
A |
11: 93,834,666 (GRCm39) |
S615T |
possibly damaging |
Het |
| Nlrp9c |
C |
T |
7: 26,084,175 (GRCm39) |
S468N |
probably benign |
Het |
| Nt5c2 |
A |
T |
19: 46,886,087 (GRCm39) |
D212E |
probably benign |
Het |
| Or52e19 |
A |
T |
7: 102,959,014 (GRCm39) |
I29L |
probably benign |
Het |
| Pck2 |
T |
C |
14: 55,785,756 (GRCm39) |
|
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,516,721 (GRCm39) |
Q230R |
probably damaging |
Het |
| Pomk |
T |
C |
8: 26,473,624 (GRCm39) |
T110A |
probably benign |
Het |
| Psg23 |
C |
T |
7: 18,348,608 (GRCm39) |
W66* |
probably null |
Het |
| Rnf144b |
T |
C |
13: 47,373,964 (GRCm39) |
|
probably benign |
Het |
| Sppl2c |
G |
A |
11: 104,077,805 (GRCm39) |
G202S |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,637,511 (GRCm39) |
V12248A |
probably benign |
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 |
|
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 |
|
IGL03157:Thnsl2
|
APN |
6 |
71,108,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2012-12-06 |
Incidental Mutation