Incidental Mutation 'R5584:Thnsl1'
| ID |
438600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thnsl1
|
| Ensembl Gene |
ENSMUSG00000048550 |
| Gene Name |
threonine synthase-like 1 (bacterial) |
| Synonyms |
|
| MMRRC Submission |
043138-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R5584 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
21210535-21219820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21218223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 138
(P138L)
|
| 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: P659L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052452
Gene: ENSMUSG00000048550
AA Change: P659L
| 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: P138L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100016
Gene: ENSMUSG00000048550
AA Change: P138L
| 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: P138L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100017
Gene: ENSMUSG00000048550
AA Change: P138L
| 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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,553,386 (GRCm39) |
G5496D |
probably damaging |
Het |
| Akr1c19 |
A |
T |
13: 4,293,031 (GRCm39) |
Q262H |
probably damaging |
Het |
| Cntn5 |
T |
C |
9: 9,661,457 (GRCm39) |
T1070A |
possibly damaging |
Het |
| Efcab14 |
T |
C |
4: 115,621,794 (GRCm39) |
V358A |
possibly damaging |
Het |
| Epb41l4a |
G |
T |
18: 33,987,324 (GRCm39) |
T351N |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,897,406 (GRCm39) |
V237E |
possibly damaging |
Het |
| Ezh2 |
A |
T |
6: 47,508,950 (GRCm39) |
N684K |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,446,627 (GRCm39) |
T946A |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,229,574 (GRCm39) |
I125N |
probably damaging |
Het |
| Gcsam |
A |
C |
16: 45,440,226 (GRCm39) |
I90L |
probably benign |
Het |
| Glrx |
T |
A |
13: 75,995,341 (GRCm39) |
I87N |
probably benign |
Het |
| Hivep1 |
T |
A |
13: 42,313,593 (GRCm39) |
N1944K |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,281,632 (GRCm39) |
D3913G |
probably damaging |
Het |
| Ltb4r1 |
T |
A |
14: 56,004,844 (GRCm39) |
M49K |
possibly damaging |
Het |
| Mbip |
A |
G |
12: 56,382,647 (GRCm39) |
I273T |
probably damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,201,550 (GRCm39) |
S384T |
probably damaging |
Het |
| Nlrp4e |
T |
G |
7: 23,020,602 (GRCm39) |
I363S |
probably benign |
Het |
| Nrg3 |
CCCGCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGCCGC |
14: 39,194,654 (GRCm39) |
|
probably benign |
Het |
| Pcdha11 |
C |
A |
18: 37,139,818 (GRCm39) |
D482E |
probably damaging |
Het |
| Plppr3 |
T |
C |
10: 79,702,286 (GRCm39) |
Y262C |
probably damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,678,366 (GRCm39) |
K284E |
probably damaging |
Het |
| Rabggta |
T |
C |
14: 55,958,289 (GRCm39) |
N124S |
probably benign |
Het |
| Rbm46 |
C |
A |
3: 82,771,465 (GRCm39) |
M383I |
probably benign |
Het |
| Rfx1 |
G |
A |
8: 84,814,706 (GRCm39) |
|
probably null |
Het |
| Sema3d |
T |
C |
5: 12,615,975 (GRCm39) |
V493A |
possibly damaging |
Het |
| Sema3d |
T |
C |
5: 12,620,954 (GRCm39) |
V520A |
possibly damaging |
Het |
| Sis |
C |
G |
3: 72,817,748 (GRCm39) |
W1488C |
probably damaging |
Het |
| Slc6a20a |
A |
G |
9: 123,469,753 (GRCm39) |
F411S |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,127,651 (GRCm39) |
N405K |
probably damaging |
Het |
| Trim27 |
T |
A |
13: 21,376,719 (GRCm39) |
I489N |
probably damaging |
Het |
| Triobp |
G |
A |
15: 78,852,332 (GRCm39) |
V829I |
possibly damaging |
Het |
| Unc119 |
A |
G |
11: 78,239,396 (GRCm39) |
D217G |
probably damaging |
Het |
| Ushbp1 |
T |
C |
8: 71,843,623 (GRCm39) |
T272A |
possibly damaging |
Het |
| Zfpm2 |
A |
T |
15: 40,965,933 (GRCm39) |
N806I |
probably benign |
Het |
| Znrf3 |
T |
C |
11: 5,236,218 (GRCm39) |
E164G |
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 |
|
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 |
|
|
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'- CACTTCCGGATTGAGAAGATGC -3'
(R):5'- TCTTCAGGACATCCACATCAG -3'
Sequencing Primer
(F):5'- ATGCTGGTCGAGAAGCTGC -3'
(R):5'- ACAAACCTGGTAATCCATCTTCTC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation