Incidental Mutation 'IGL01350:Thnsl1'
ID |
75322 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Thnsl1
|
Ensembl Gene |
ENSMUSG00000048550 |
Gene Name |
threonine synthase-like 1 (bacterial) |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
IGL01350
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
21210535-21219820 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21217011 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 255
(V255A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052452
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054591]
[ENSMUST00000102951]
[ENSMUST00000102952]
[ENSMUST00000138914]
[ENSMUST00000138965]
|
AlphaFold |
Q8BH55 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054591
AA Change: V255A
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000052452 Gene: ENSMUSG00000048550 AA Change: V255A
Domain | Start | End | E-Value | Type |
Pfam:AAA_17
|
57 |
202 |
2e-8 |
PFAM |
Pfam:SKI
|
64 |
221 |
5.8e-40 |
PFAM |
Pfam:Thr_synth_N
|
230 |
318 |
3.2e-16 |
PFAM |
Pfam:PALP
|
326 |
659 |
2.2e-9 |
PFAM |
low complexity region
|
684 |
701 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102951
|
SMART Domains |
Protein: ENSMUSP00000100016 Gene: ENSMUSG00000048550
Domain | Start | End | E-Value | Type |
PDB:1KL7|B
|
2 |
158 |
2e-27 |
PDB |
SCOP:d1kl7a_
|
2 |
214 |
7e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102952
|
SMART Domains |
Protein: ENSMUSP00000100017 Gene: ENSMUSG00000048550
Domain | Start | End | E-Value | Type |
PDB:1KL7|B
|
2 |
158 |
2e-27 |
PDB |
SCOP:d1kl7a_
|
2 |
214 |
7e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138914
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138965
|
SMART Domains |
Protein: ENSMUSP00000115186 Gene: ENSMUSG00000048550
Domain | Start | End | E-Value | Type |
PDB:1KL7|B
|
2 |
93 |
5e-16 |
PDB |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
G |
16: 20,187,208 (GRCm39) |
I926T |
probably benign |
Het |
Adam39 |
T |
A |
8: 41,278,876 (GRCm39) |
C422* |
probably null |
Het |
Aldh1l1 |
A |
G |
6: 90,536,338 (GRCm39) |
N81S |
probably damaging |
Het |
Amd1 |
A |
T |
10: 40,166,186 (GRCm39) |
Y264* |
probably null |
Het |
Axl |
T |
C |
7: 25,458,175 (GRCm39) |
Y851C |
probably damaging |
Het |
Ccdc70 |
T |
C |
8: 22,463,690 (GRCm39) |
L160P |
probably damaging |
Het |
Cd2ap |
A |
T |
17: 43,136,812 (GRCm39) |
Y273* |
probably null |
Het |
Cyb5rl |
T |
C |
4: 106,941,409 (GRCm39) |
V278A |
possibly damaging |
Het |
Cyp2c29 |
T |
C |
19: 39,318,771 (GRCm39) |
F417S |
probably damaging |
Het |
Dnah7b |
C |
A |
1: 46,120,592 (GRCm39) |
|
probably benign |
Het |
Epha4 |
A |
T |
1: 77,483,492 (GRCm39) |
D172E |
probably damaging |
Het |
Eya4 |
T |
A |
10: 22,989,873 (GRCm39) |
I495F |
possibly damaging |
Het |
Gpr150 |
A |
T |
13: 76,204,542 (GRCm39) |
H134Q |
probably benign |
Het |
Gpr153 |
T |
G |
4: 152,366,423 (GRCm39) |
|
probably benign |
Het |
Hipk2 |
A |
G |
6: 38,795,250 (GRCm39) |
Y333H |
probably damaging |
Het |
Jakmip1 |
T |
C |
5: 37,242,775 (GRCm39) |
M21T |
probably benign |
Het |
Kcnh3 |
A |
T |
15: 99,139,873 (GRCm39) |
I920F |
probably benign |
Het |
Lrp2 |
G |
A |
2: 69,341,328 (GRCm39) |
R951C |
probably damaging |
Het |
Msi1 |
A |
G |
5: 115,573,580 (GRCm39) |
K126R |
possibly damaging |
Het |
Nkx2-6 |
T |
A |
14: 69,412,222 (GRCm39) |
F130Y |
probably damaging |
Het |
Onecut2 |
T |
A |
18: 64,474,160 (GRCm39) |
L218Q |
probably damaging |
Het |
Or12j4 |
G |
T |
7: 140,046,292 (GRCm39) |
M59I |
probably damaging |
Het |
Or5p6 |
T |
C |
7: 107,630,887 (GRCm39) |
Y221C |
probably damaging |
Het |
Or8j3 |
A |
G |
2: 86,028,149 (GRCm39) |
*316Q |
probably null |
Het |
Pah |
T |
A |
10: 87,414,221 (GRCm39) |
|
probably benign |
Het |
Per2 |
C |
T |
1: 91,358,583 (GRCm39) |
E602K |
probably damaging |
Het |
Plb1 |
C |
T |
5: 32,474,408 (GRCm39) |
T623M |
probably damaging |
Het |
Prkaa2 |
T |
C |
4: 104,909,109 (GRCm39) |
|
probably null |
Het |
Prl7b1 |
T |
A |
13: 27,786,804 (GRCm39) |
T142S |
probably damaging |
Het |
Psd3 |
T |
C |
8: 68,173,544 (GRCm39) |
H1090R |
probably damaging |
Het |
Siglecf |
G |
T |
7: 43,005,319 (GRCm39) |
|
probably benign |
Het |
Tas2r118 |
A |
G |
6: 23,969,746 (GRCm39) |
V105A |
probably damaging |
Het |
Tmprss5 |
T |
A |
9: 49,020,757 (GRCm39) |
*84K |
probably null |
Het |
Trrap |
C |
T |
5: 144,767,779 (GRCm39) |
L2579F |
possibly damaging |
Het |
Vdac1 |
A |
G |
11: 52,276,489 (GRCm39) |
T211A |
probably benign |
Het |
Vmn1r16 |
A |
T |
6: 57,299,716 (GRCm39) |
V302D |
possibly damaging |
Het |
Wdr75 |
T |
A |
1: 45,857,420 (GRCm39) |
C572* |
probably null |
Het |
Xpc |
A |
G |
6: 91,476,993 (GRCm39) |
S369P |
probably benign |
Het |
Zdhhc20 |
A |
G |
14: 58,111,444 (GRCm39) |
V52A |
probably benign |
Het |
Zfp977 |
T |
C |
7: 42,230,090 (GRCm39) |
Y145C |
probably damaging |
Het |
|
Other mutations in Thnsl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00160:Thnsl1
|
APN |
2 |
21,217,260 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL00756:Thnsl1
|
APN |
2 |
21,217,423 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00952:Thnsl1
|
APN |
2 |
21,216,767 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01020:Thnsl1
|
APN |
2 |
21,217,305 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01476:Thnsl1
|
APN |
2 |
21,216,970 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01548:Thnsl1
|
APN |
2 |
21,217,943 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01916:Thnsl1
|
APN |
2 |
21,217,476 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02176:Thnsl1
|
APN |
2 |
21,216,665 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL03001:Thnsl1
|
APN |
2 |
21,216,455 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03219:Thnsl1
|
APN |
2 |
21,217,217 (GRCm39) |
missense |
probably benign |
0.14 |
IGL03386:Thnsl1
|
APN |
2 |
21,216,359 (GRCm39) |
missense |
probably benign |
0.01 |
R0684:Thnsl1
|
UTSW |
2 |
21,216,477 (GRCm39) |
missense |
probably benign |
0.02 |
R0738:Thnsl1
|
UTSW |
2 |
21,218,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R1119:Thnsl1
|
UTSW |
2 |
21,217,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R1121:Thnsl1
|
UTSW |
2 |
21,216,975 (GRCm39) |
missense |
probably benign |
0.00 |
R2150:Thnsl1
|
UTSW |
2 |
21,217,344 (GRCm39) |
missense |
probably benign |
0.08 |
R3545:Thnsl1
|
UTSW |
2 |
21,217,438 (GRCm39) |
missense |
probably benign |
0.01 |
R3547:Thnsl1
|
UTSW |
2 |
21,217,438 (GRCm39) |
missense |
probably benign |
0.01 |
R4244:Thnsl1
|
UTSW |
2 |
21,217,059 (GRCm39) |
missense |
probably benign |
|
R4245:Thnsl1
|
UTSW |
2 |
21,217,059 (GRCm39) |
missense |
probably benign |
|
R4510:Thnsl1
|
UTSW |
2 |
21,217,236 (GRCm39) |
missense |
probably damaging |
0.99 |
R4511:Thnsl1
|
UTSW |
2 |
21,217,236 (GRCm39) |
missense |
probably damaging |
0.99 |
R4678:Thnsl1
|
UTSW |
2 |
21,216,352 (GRCm39) |
splice site |
probably null |
|
R4753:Thnsl1
|
UTSW |
2 |
21,218,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R4795:Thnsl1
|
UTSW |
2 |
21,216,856 (GRCm39) |
nonsense |
probably null |
|
R4796:Thnsl1
|
UTSW |
2 |
21,216,856 (GRCm39) |
nonsense |
probably null |
|
R5584:Thnsl1
|
UTSW |
2 |
21,218,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R5586:Thnsl1
|
UTSW |
2 |
21,217,201 (GRCm39) |
nonsense |
probably null |
|
R5682:Thnsl1
|
UTSW |
2 |
21,216,879 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5718:Thnsl1
|
UTSW |
2 |
21,216,811 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6159:Thnsl1
|
UTSW |
2 |
21,217,016 (GRCm39) |
nonsense |
probably null |
|
R6795:Thnsl1
|
UTSW |
2 |
21,218,303 (GRCm39) |
nonsense |
probably null |
|
R7084:Thnsl1
|
UTSW |
2 |
21,217,141 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7153:Thnsl1
|
UTSW |
2 |
21,217,764 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7243:Thnsl1
|
UTSW |
2 |
21,217,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R7265:Thnsl1
|
UTSW |
2 |
21,217,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R7481:Thnsl1
|
UTSW |
2 |
21,216,599 (GRCm39) |
missense |
probably benign |
0.00 |
R8005:Thnsl1
|
UTSW |
2 |
21,216,755 (GRCm39) |
missense |
probably benign |
|
R8223:Thnsl1
|
UTSW |
2 |
21,216,924 (GRCm39) |
missense |
probably benign |
0.45 |
R8331:Thnsl1
|
UTSW |
2 |
21,216,985 (GRCm39) |
missense |
probably benign |
|
R8548:Thnsl1
|
UTSW |
2 |
21,217,733 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8798:Thnsl1
|
UTSW |
2 |
21,217,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-10-07 |