Incidental Mutation 'IGL01139:Thnsl2'
| ID |
51376 |
| 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 # |
IGL01139
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
71105150-71121364 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71115718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 163
(V163D)
|
| 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: V163D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073861
Gene: ENSMUSG00000054474
AA Change: V163D
| 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: V163D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124423
Gene: ENSMUSG00000054474
AA Change: V163D
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
T |
4: 144,504,259 (GRCm39) |
Y297* |
probably null |
Het |
| Actr3 |
A |
T |
1: 125,333,622 (GRCm39) |
I215N |
probably damaging |
Het |
| Ambn |
C |
T |
5: 88,612,376 (GRCm39) |
|
probably benign |
Het |
| Arhgef1 |
T |
A |
7: 24,625,376 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
A |
C |
4: 133,421,308 (GRCm39) |
S832R |
unknown |
Het |
| Clca4a |
A |
T |
3: 144,672,030 (GRCm39) |
I304N |
probably damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,366,248 (GRCm39) |
P274S |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,171,143 (GRCm39) |
D211E |
probably damaging |
Het |
| Eri2 |
A |
G |
7: 119,385,960 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
C |
T |
18: 25,199,401 (GRCm39) |
P691S |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,945,989 (GRCm38) |
S2465G |
probably damaging |
Het |
| Ftsj1 |
G |
A |
X: 8,112,831 (GRCm39) |
R171C |
probably damaging |
Het |
| Glb1l3 |
G |
A |
9: 26,729,523 (GRCm39) |
T648I |
probably benign |
Het |
| Gm4222 |
T |
A |
2: 89,978,889 (GRCm39) |
|
probably benign |
Het |
| Gm5475 |
G |
A |
15: 100,322,096 (GRCm39) |
|
probably benign |
Het |
| Jaml |
C |
A |
9: 45,012,317 (GRCm39) |
T268N |
possibly damaging |
Het |
| Kank3 |
G |
A |
17: 34,036,375 (GRCm39) |
G81E |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,549,969 (GRCm39) |
T217A |
possibly damaging |
Het |
| Ltn1 |
A |
G |
16: 87,212,897 (GRCm39) |
S555P |
probably benign |
Het |
| Map3k15 |
T |
A |
X: 158,855,875 (GRCm39) |
M350K |
probably damaging |
Het |
| Mipol1 |
C |
A |
12: 57,352,821 (GRCm39) |
Y53* |
probably null |
Het |
| Mn1 |
A |
G |
5: 111,569,315 (GRCm39) |
D1095G |
probably damaging |
Het |
| Myh14 |
T |
C |
7: 44,255,716 (GRCm39) |
|
probably benign |
Het |
| Nrn1 |
A |
G |
13: 36,914,190 (GRCm39) |
C31R |
probably damaging |
Het |
| Nup210 |
A |
T |
6: 91,007,079 (GRCm39) |
L579H |
possibly damaging |
Het |
| Nxf2 |
T |
C |
X: 133,851,145 (GRCm39) |
I578V |
probably benign |
Het |
| Obscn |
G |
A |
11: 58,969,178 (GRCm39) |
A172V |
probably damaging |
Het |
| Or10h1b |
T |
A |
17: 33,395,756 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or9g4 |
T |
G |
2: 85,504,841 (GRCm39) |
Y218S |
probably damaging |
Het |
| Phtf1 |
A |
G |
3: 103,912,918 (GRCm39) |
D748G |
probably damaging |
Het |
| Psd3 |
A |
T |
8: 68,361,187 (GRCm39) |
Y863N |
probably damaging |
Het |
| Psmc6 |
C |
T |
14: 45,581,167 (GRCm39) |
T321I |
probably benign |
Het |
| Rassf6 |
T |
C |
5: 90,756,825 (GRCm39) |
*31W |
probably null |
Het |
| Rictor |
A |
C |
15: 6,807,749 (GRCm39) |
K791Q |
probably damaging |
Het |
| Slc12a9 |
C |
T |
5: 137,321,104 (GRCm39) |
M470I |
probably damaging |
Het |
| Tex28 |
A |
T |
X: 73,194,830 (GRCm39) |
M367K |
possibly damaging |
Het |
| Tmco3 |
G |
A |
8: 13,369,887 (GRCm39) |
R633Q |
possibly damaging |
Het |
| Trf |
A |
T |
9: 103,100,803 (GRCm39) |
V224D |
probably damaging |
Het |
| Ttc8 |
C |
T |
12: 98,930,804 (GRCm39) |
Q273* |
probably null |
Het |
| Usp9x |
A |
G |
X: 12,970,815 (GRCm39) |
|
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,778 (GRCm39) |
W210R |
probably damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,826 (GRCm39) |
S718P |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,617,989 (GRCm39) |
D2932G |
probably damaging |
Het |
| Whamm |
T |
C |
7: 81,245,662 (GRCm39) |
L706P |
probably damaging |
Het |
| Yeats2 |
G |
A |
16: 20,033,143 (GRCm39) |
V45I |
probably damaging |
Het |
| Yipf3 |
G |
A |
17: 46,561,383 (GRCm39) |
|
probably null |
Het |
| Zeb1 |
T |
C |
18: 5,705,061 (GRCm39) |
V26A |
possibly 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 |
|
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 |
2013-06-21 |
Incidental Mutation