Incidental Mutation 'R2867:Thnsl2'
| ID |
266390 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thnsl2
|
| Ensembl Gene |
ENSMUSG00000054474 |
| Gene Name |
threonine synthase-like 2 (bacterial) |
| Synonyms |
TSH2 |
| MMRRC Submission |
040456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R2867 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
71105150-71121364 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 71108945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 289
(D289Y)
|
| 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: D289Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073861
Gene: ENSMUSG00000054474
AA Change: D289Y
| 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: D289Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124423
Gene: ENSMUSG00000054474
AA Change: D289Y
| 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: D4Y
|
| SMART Domains |
Protein: ENSMUSP00000129994
Gene: ENSMUSG00000054474
AA Change: D4Y
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4F4F|B
|
2 |
122 |
1e-11 |
PDB |
|
SCOP:d1kl7a_
|
2 |
129 |
1e-10 |
SMART |
|
| Meta Mutation Damage Score |
0.9570 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (30/31) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss2 |
T |
C |
1: 177,595,378 (GRCm39) |
|
probably null |
Het |
| Arid3c |
T |
C |
4: 41,725,958 (GRCm39) |
D215G |
probably damaging |
Het |
| Birc2 |
A |
C |
9: 7,834,478 (GRCm39) |
M1R |
probably null |
Het |
| Caprin2 |
G |
A |
6: 148,747,738 (GRCm39) |
|
silent |
Het |
| Cog4 |
C |
A |
8: 111,593,291 (GRCm39) |
|
probably benign |
Het |
| Cpz |
T |
C |
5: 35,659,705 (GRCm39) |
K647E |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 77,091,905 (GRCm39) |
|
probably benign |
Het |
| Cyp7a1 |
T |
C |
4: 6,272,493 (GRCm39) |
E240G |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,310,257 (GRCm39) |
L337* |
probably null |
Het |
| Efhc2 |
A |
T |
X: 17,027,484 (GRCm39) |
|
probably benign |
Homo |
| Epha6 |
T |
C |
16: 59,780,659 (GRCm39) |
|
probably null |
Het |
| Evc |
T |
A |
5: 37,473,619 (GRCm39) |
|
probably benign |
Het |
| Fbf1 |
A |
G |
11: 116,052,274 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
| Gtf3c4 |
A |
G |
2: 28,729,916 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
| Kif20b |
A |
G |
19: 34,917,528 (GRCm39) |
E631G |
probably damaging |
Het |
| Lctl |
T |
C |
9: 64,045,150 (GRCm39) |
S550P |
probably benign |
Het |
| Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
| Mgst2 |
A |
G |
3: 51,571,954 (GRCm39) |
|
silent |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,588,033 (GRCm39) |
N302D |
probably benign |
Het |
| Pcdh7 |
A |
T |
5: 57,879,236 (GRCm39) |
K930N |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,675,456 (GRCm39) |
I457L |
probably benign |
Het |
| Proca1 |
A |
T |
11: 78,095,806 (GRCm39) |
N146I |
probably damaging |
Het |
| RP23-211L5.9 |
T |
C |
6: 68,872,634 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,776,235 (GRCm39) |
W1101R |
probably damaging |
Het |
| Slc35d3 |
T |
C |
10: 19,725,209 (GRCm39) |
T216A |
probably benign |
Het |
| Terb1 |
C |
T |
8: 105,174,485 (GRCm39) |
|
probably benign |
Het |
| Tigd4 |
A |
G |
3: 84,501,259 (GRCm39) |
N59D |
possibly damaging |
Het |
| Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
| Tradd |
G |
T |
8: 105,986,145 (GRCm39) |
F182L |
probably benign |
Het |
| Trav17 |
A |
T |
14: 54,044,383 (GRCm39) |
Y50F |
probably benign |
Het |
| Usp37 |
A |
T |
1: 74,489,691 (GRCm39) |
D808E |
probably damaging |
Het |
| Usp42 |
G |
A |
5: 143,701,219 (GRCm39) |
P935S |
possibly damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,690,123 (GRCm39) |
D333G |
possibly damaging |
Het |
| Zfpm2 |
C |
T |
15: 40,962,785 (GRCm39) |
A149V |
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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGCCAGAAGATCCTCTC -3'
(R):5'- AGAACAAGGCACAGTGACTATTCG -3'
Sequencing Primer
(F):5'- CAGAAGATCCTCTCCATGTTGTAGG -3'
(R):5'- AGGCACAGTGACTATTCGACTTC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation