Incidental Mutation 'R6159:Thnsl1'
| ID |
489736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thnsl1
|
| Ensembl Gene |
ENSMUSG00000048550 |
| Gene Name |
threonine synthase-like 1 (bacterial) |
| Synonyms |
|
| MMRRC Submission |
044306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R6159 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
21210535-21219820 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 21217016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 257
(E257*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052452
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054591]
[ENSMUST00000102951]
[ENSMUST00000102952]
[ENSMUST00000138914]
[ENSMUST00000138965]
|
| AlphaFold |
Q8BH55 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000054591
AA Change: E257*
|
| SMART Domains |
Protein: ENSMUSP00000052452
Gene: ENSMUSG00000048550
AA Change: E257*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
96% (54/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahcyl2 |
A |
C |
6: 29,908,457 (GRCm39) |
N609T |
possibly damaging |
Het |
| Ankzf1 |
G |
A |
1: 75,170,888 (GRCm39) |
C98Y |
probably damaging |
Het |
| Atg101 |
T |
A |
15: 101,188,519 (GRCm39) |
M208K |
possibly damaging |
Het |
| Baiap2l2 |
A |
G |
15: 79,143,930 (GRCm39) |
I388T |
probably benign |
Het |
| Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
| Chrnd |
T |
A |
1: 87,118,812 (GRCm39) |
D56E |
probably benign |
Het |
| Col28a1 |
A |
T |
6: 8,162,247 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
G |
T |
8: 11,270,007 (GRCm39) |
P899Q |
probably damaging |
Het |
| Cts3 |
C |
A |
13: 61,714,655 (GRCm39) |
A217S |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,465,941 (GRCm39) |
N495S |
possibly damaging |
Het |
| Dnah2 |
T |
A |
11: 69,349,368 (GRCm39) |
I2423F |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,733,041 (GRCm39) |
H1053R |
probably benign |
Het |
| Eif1ad14 |
G |
A |
12: 87,886,521 (GRCm39) |
A36V |
probably damaging |
Het |
| Fam184a |
G |
A |
10: 53,574,869 (GRCm39) |
L191F |
probably damaging |
Het |
| Fbxl9 |
T |
C |
8: 106,049,925 (GRCm39) |
Y33C |
probably damaging |
Het |
| Fip1l1 |
C |
T |
5: 74,752,608 (GRCm39) |
R472W |
probably damaging |
Het |
| Gbp2 |
T |
C |
3: 142,338,018 (GRCm39) |
F378S |
probably damaging |
Het |
| Ggt1 |
A |
T |
10: 75,420,799 (GRCm39) |
E388V |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,638,050 (GRCm39) |
T375A |
probably benign |
Het |
| Gm43302 |
A |
G |
5: 105,436,894 (GRCm39) |
S71P |
probably benign |
Het |
| Gnrhr |
G |
T |
5: 86,330,216 (GRCm39) |
T268K |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,962,020 (GRCm39) |
V335A |
probably benign |
Het |
| Klhl20 |
A |
T |
1: 160,933,037 (GRCm39) |
L257H |
probably damaging |
Het |
| Med27 |
C |
A |
2: 29,414,376 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
T |
A |
7: 141,369,323 (GRCm39) |
C2433S |
possibly damaging |
Het |
| Nasp |
A |
G |
4: 116,461,086 (GRCm39) |
|
probably null |
Het |
| Nipal2 |
A |
C |
15: 34,600,172 (GRCm39) |
V215G |
probably damaging |
Het |
| Or10al5 |
A |
T |
17: 38,063,038 (GRCm39) |
I98F |
probably damaging |
Het |
| Or9i1b |
C |
T |
19: 13,897,104 (GRCm39) |
T240I |
probably damaging |
Het |
| Oxct2b |
G |
A |
4: 123,011,244 (GRCm39) |
R388H |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,774,240 (GRCm39) |
I469V |
possibly damaging |
Het |
| Phyhip |
A |
G |
14: 70,704,294 (GRCm39) |
H171R |
possibly damaging |
Het |
| Pigs |
C |
T |
11: 78,219,326 (GRCm39) |
T9M |
probably benign |
Het |
| Plek |
T |
C |
11: 16,935,539 (GRCm39) |
D256G |
probably damaging |
Het |
| Prss50 |
T |
C |
9: 110,693,371 (GRCm39) |
V369A |
probably benign |
Het |
| Psmc5 |
A |
G |
11: 106,152,088 (GRCm39) |
K82E |
possibly damaging |
Het |
| Qrsl1 |
A |
T |
10: 43,758,189 (GRCm39) |
F301L |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,797,673 (GRCm39) |
L135P |
probably damaging |
Het |
| Rbm47 |
A |
G |
5: 66,184,159 (GRCm39) |
V148A |
probably damaging |
Het |
| Scyl1 |
T |
A |
19: 5,814,785 (GRCm39) |
D381V |
probably benign |
Het |
| Selplg |
G |
T |
5: 113,957,162 (GRCm39) |
D381E |
probably benign |
Het |
| Sh3rf2 |
C |
A |
18: 42,289,200 (GRCm39) |
Q674K |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,210,659 (GRCm39) |
T987A |
probably benign |
Het |
| Sntb1 |
A |
G |
15: 55,539,698 (GRCm39) |
|
probably null |
Het |
| Synj2 |
A |
T |
17: 6,036,327 (GRCm39) |
I14F |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,926,440 (GRCm39) |
M170K |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,607,096 (GRCm39) |
E211G |
possibly damaging |
Het |
| Tlr4 |
A |
G |
4: 66,758,070 (GRCm39) |
R288G |
possibly damaging |
Het |
| Trbc1 |
T |
C |
6: 41,515,385 (GRCm39) |
|
probably benign |
Het |
| Trim37 |
G |
A |
11: 87,107,374 (GRCm39) |
|
probably null |
Het |
| Txnrd3 |
T |
C |
6: 89,640,176 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
C |
A |
9: 21,021,800 (GRCm39) |
Q875H |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,385,698 (GRCm39) |
Y761H |
probably damaging |
Het |
| Zswim5 |
T |
C |
4: 116,836,876 (GRCm39) |
L720P |
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 |
|
|
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 |
|
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'- AGCATCTCTGAGAGACTCGC -3'
(R):5'- TTTCTCCTAATTTGGCAGCAGG -3'
Sequencing Primer
(F):5'- CATCTCTGAGAGACTCGCTGAAG -3'
(R):5'- CCTAATTTGGCAGCAGGTATGTCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation