Incidental Mutation 'R0738:Thnsl1'
ID |
70556 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thnsl1
|
Ensembl Gene |
ENSMUSG00000048550 |
Gene Name |
threonine synthase-like 1 (bacterial) |
Synonyms |
|
MMRRC Submission |
038919-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
R0738 (G1)
|
Quality Score |
120 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
21210535-21219820 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 21218173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 121
(H121Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100017
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054591]
[ENSMUST00000102951]
[ENSMUST00000102952]
[ENSMUST00000138914]
[ENSMUST00000138965]
|
AlphaFold |
Q8BH55 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054591
AA Change: H642Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052452 Gene: ENSMUSG00000048550 AA Change: H642Q
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 damaging
Transcript: ENSMUST00000102951
AA Change: H121Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000100016 Gene: ENSMUSG00000048550 AA Change: H121Q
Domain | Start | End | E-Value | Type |
PDB:1KL7|B
|
2 |
158 |
2e-27 |
PDB |
SCOP:d1kl7a_
|
2 |
214 |
7e-20 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102952
AA Change: H121Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000100017 Gene: ENSMUSG00000048550 AA Change: H121Q
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 92.3%
|
Validation Efficiency |
98% (46/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
T |
5: 99,388,812 (GRCm39) |
M189K |
probably benign |
Het |
Ank1 |
A |
T |
8: 23,604,130 (GRCm39) |
E964D |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,778,302 (GRCm39) |
|
probably benign |
Het |
Cd9 |
G |
T |
6: 125,439,103 (GRCm39) |
Q169K |
probably benign |
Het |
Cdc42bpa |
T |
A |
1: 179,827,027 (GRCm39) |
|
probably benign |
Het |
Ch25h |
T |
C |
19: 34,451,787 (GRCm39) |
N247S |
possibly damaging |
Het |
Dctn1 |
T |
C |
6: 83,167,089 (GRCm39) |
|
probably null |
Het |
Defa22 |
C |
T |
8: 21,652,391 (GRCm39) |
T19I |
probably benign |
Het |
Dscam |
T |
C |
16: 96,620,981 (GRCm39) |
N576D |
possibly damaging |
Het |
Epha3 |
T |
C |
16: 63,415,975 (GRCm39) |
M675V |
probably damaging |
Het |
Fam241a |
C |
A |
3: 127,664,442 (GRCm39) |
A120S |
possibly damaging |
Het |
Fkbp8 |
T |
A |
8: 70,982,320 (GRCm39) |
I86N |
probably damaging |
Het |
Herc4 |
C |
T |
10: 63,124,928 (GRCm39) |
P514L |
possibly damaging |
Het |
Ide |
A |
T |
19: 37,255,364 (GRCm39) |
L813* |
probably null |
Het |
Igkv12-41 |
G |
A |
6: 69,835,675 (GRCm39) |
Q26* |
probably null |
Het |
Itsn2 |
T |
C |
12: 4,685,681 (GRCm39) |
V483A |
probably benign |
Het |
Kcp |
A |
T |
6: 29,490,438 (GRCm39) |
I1002N |
probably benign |
Het |
Lrfn5 |
G |
T |
12: 61,887,378 (GRCm39) |
E389* |
probably null |
Het |
Lrp6 |
G |
T |
6: 134,519,008 (GRCm39) |
A19E |
probably benign |
Het |
Mad1l1 |
A |
G |
5: 140,286,315 (GRCm39) |
L228P |
probably damaging |
Het |
Map2 |
T |
C |
1: 66,464,348 (GRCm39) |
|
probably benign |
Het |
Med13l |
T |
A |
5: 118,889,698 (GRCm39) |
Y1820N |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,731,869 (GRCm39) |
N735S |
probably benign |
Het |
Mid2 |
A |
G |
X: 139,664,425 (GRCm39) |
Y618C |
probably damaging |
Het |
Mllt11 |
G |
A |
3: 95,127,597 (GRCm39) |
Q58* |
probably null |
Het |
Mttp |
A |
G |
3: 137,809,074 (GRCm39) |
V678A |
probably damaging |
Het |
Nfatc1 |
A |
G |
18: 80,741,125 (GRCm39) |
S278P |
probably damaging |
Het |
Ninj2 |
A |
G |
6: 120,175,098 (GRCm39) |
|
probably benign |
Het |
Nsd3 |
T |
A |
8: 26,168,725 (GRCm39) |
|
probably null |
Het |
Or5b102 |
A |
T |
19: 13,041,102 (GRCm39) |
E109V |
probably damaging |
Het |
Or8c17 |
T |
C |
9: 38,180,421 (GRCm39) |
V204A |
possibly damaging |
Het |
Pcdhb4 |
A |
G |
18: 37,441,764 (GRCm39) |
N358S |
probably damaging |
Het |
Plch1 |
T |
C |
3: 63,609,974 (GRCm39) |
|
probably benign |
Het |
Popdc3 |
T |
C |
10: 45,191,354 (GRCm39) |
L155P |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rbm26 |
A |
T |
14: 105,414,218 (GRCm39) |
I24N |
unknown |
Het |
Rc3h2 |
T |
A |
2: 37,295,386 (GRCm39) |
D210V |
probably damaging |
Het |
Samd1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
8: 84,725,625 (GRCm39) |
|
probably benign |
Het |
Spopl |
T |
C |
2: 23,427,533 (GRCm39) |
T200A |
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,165,540 (GRCm39) |
|
probably null |
Het |
Tll1 |
T |
C |
8: 64,554,984 (GRCm39) |
D233G |
probably damaging |
Het |
Vmn2r27 |
A |
T |
6: 124,200,661 (GRCm39) |
V432E |
possibly damaging |
Het |
Wdr5 |
T |
C |
2: 27,409,424 (GRCm39) |
S49P |
probably damaging |
Het |
Zfyve26 |
A |
T |
12: 79,342,308 (GRCm39) |
I46N |
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 |
IGL01350:Thnsl1
|
APN |
2 |
21,217,011 (GRCm39) |
missense |
probably benign |
0.30 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCAAGTCTTCCAACCTGGAGCG -3'
(R):5'- TCATTCTCTCTAGCAGAGCCTCGTG -3'
Sequencing Primer
(F):5'- CCTGGAGCGACATTTATACTTG -3'
(R):5'- TGAGGAGGGGGCAATGC -3'
|
Posted On |
2013-09-30 |