Incidental Mutation 'R5578:Thnsl2'
ID |
437298 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thnsl2
|
Ensembl Gene |
ENSMUSG00000054474 |
Gene Name |
threonine synthase-like 2 (bacterial) |
Synonyms |
TSH2 |
MMRRC Submission |
043133-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R5578 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
71105150-71121364 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 71115749 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 153
(V153I)
|
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: V153I
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000073861 Gene: ENSMUSG00000054474 AA Change: V153I
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: V153I
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000124423 Gene: ENSMUSG00000054474 AA Change: V153I
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
A |
G |
16: 30,926,932 (GRCm39) |
S521P |
probably benign |
Het |
Aqp11 |
A |
G |
7: 97,386,665 (GRCm39) |
F177S |
probably damaging |
Het |
Arhgap40 |
G |
T |
2: 158,373,126 (GRCm39) |
G128V |
probably damaging |
Het |
Aspm |
A |
T |
1: 139,398,455 (GRCm39) |
K1011I |
probably damaging |
Het |
Cachd1 |
A |
G |
4: 100,722,203 (GRCm39) |
T89A |
probably benign |
Het |
Cep89 |
ACTCCTCCTCCTCCTCCTCCTCCTC |
ACTCCTCCTCCTCCTCCTCCTC |
7: 35,109,067 (GRCm39) |
|
probably benign |
Het |
Cfhr2 |
A |
T |
1: 139,758,806 (GRCm39) |
C81* |
probably null |
Het |
Chd7 |
A |
G |
4: 8,847,149 (GRCm39) |
T1631A |
probably benign |
Het |
Clca4b |
T |
A |
3: 144,638,196 (GRCm39) |
D22V |
probably benign |
Het |
Csnk2a1-ps3 |
A |
G |
1: 156,352,800 (GRCm39) |
M334V |
probably benign |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Cyp39a1 |
T |
A |
17: 43,991,031 (GRCm39) |
N113K |
possibly damaging |
Het |
Dnah11 |
A |
T |
12: 117,982,537 (GRCm39) |
V2544D |
probably damaging |
Het |
Dnai3 |
A |
T |
3: 145,802,983 (GRCm39) |
Y69* |
probably null |
Het |
Esr1 |
A |
C |
10: 4,919,164 (GRCm39) |
Q418P |
probably damaging |
Het |
Fam89a |
T |
A |
8: 125,467,968 (GRCm39) |
K115* |
probably null |
Het |
Fstl4 |
T |
A |
11: 53,056,608 (GRCm39) |
V455D |
probably damaging |
Het |
Gm20730 |
T |
A |
6: 43,058,474 (GRCm39) |
M113L |
probably benign |
Het |
H2ac21 |
T |
C |
3: 96,127,554 (GRCm39) |
V108A |
probably damaging |
Het |
Hk3 |
C |
T |
13: 55,159,994 (GRCm39) |
V327M |
probably damaging |
Het |
Itm2c |
T |
A |
1: 85,830,774 (GRCm39) |
V57E |
possibly damaging |
Het |
Lrba |
T |
C |
3: 86,664,814 (GRCm39) |
Y565H |
probably benign |
Het |
Mab21l1 |
C |
T |
3: 55,691,435 (GRCm39) |
Q341* |
probably null |
Het |
Mdm2 |
C |
T |
10: 117,538,192 (GRCm39) |
E69K |
possibly damaging |
Het |
Mdn1 |
A |
T |
4: 32,728,167 (GRCm39) |
I2709F |
probably benign |
Het |
Mpp7 |
T |
C |
18: 7,355,101 (GRCm39) |
N442D |
probably benign |
Het |
Ncoa3 |
A |
G |
2: 165,896,248 (GRCm39) |
I384V |
probably benign |
Het |
Pm20d1 |
A |
G |
1: 131,743,760 (GRCm39) |
N475S |
probably benign |
Het |
Rhpn2 |
A |
G |
7: 35,070,135 (GRCm39) |
D131G |
probably damaging |
Het |
S1pr5 |
T |
A |
9: 21,155,847 (GRCm39) |
Y193F |
probably damaging |
Het |
Sdk1 |
A |
T |
5: 141,598,880 (GRCm39) |
K182* |
probably null |
Het |
Slx4 |
T |
A |
16: 3,804,726 (GRCm39) |
E696V |
probably damaging |
Het |
Smyd4 |
C |
T |
11: 75,295,602 (GRCm39) |
P753S |
probably benign |
Het |
Stambp |
T |
G |
6: 83,538,782 (GRCm39) |
D206A |
probably benign |
Het |
Sult5a1 |
G |
T |
8: 123,869,860 (GRCm39) |
Y262* |
probably null |
Het |
Taar1 |
A |
T |
10: 23,796,718 (GRCm39) |
I139F |
possibly damaging |
Het |
Tchh |
A |
T |
3: 93,351,618 (GRCm39) |
R353* |
probably null |
Het |
Trmt5 |
C |
T |
12: 73,331,837 (GRCm39) |
|
probably null |
Het |
Trpa1 |
T |
A |
1: 14,957,232 (GRCm39) |
Y728F |
probably damaging |
Het |
Usp19 |
T |
C |
9: 108,370,639 (GRCm39) |
V126A |
probably benign |
Het |
Vcan |
A |
G |
13: 89,839,622 (GRCm39) |
V1974A |
probably benign |
Het |
Vmn2r120 |
T |
A |
17: 57,829,514 (GRCm39) |
H461L |
probably benign |
Het |
Zfp445 |
T |
C |
9: 122,682,402 (GRCm39) |
Y513C |
probably benign |
Het |
Zfp84 |
A |
C |
7: 29,474,856 (GRCm39) |
M43L |
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 |
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 |
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'- AGACTGTGAAGCCAGGAACC -3'
(R):5'- AGCATATCCAACGACCCTGG -3'
Sequencing Primer
(F):5'- GGCACCTCAGTACATGACTAG -3'
(R):5'- TGGACTAAGTACTCAGCACCG -3'
|
Posted On |
2016-10-26 |