Incidental Mutation 'IGL02984:Mlst8'
| ID |
453286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mlst8
|
| Ensembl Gene |
ENSMUSG00000024142 |
| Gene Name |
MTOR associated protein, LST8 homolog (S. cerevisiae) |
| Synonyms |
mLST8, Gbl, 0610033N12Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02984 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24692525-24698052 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24695127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 252
(F252S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053024]
[ENSMUST00000054946]
[ENSMUST00000070888]
[ENSMUST00000164508]
[ENSMUST00000179163]
|
| AlphaFold |
Q9DCJ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053024
|
| SMART Domains |
Protein: ENSMUSP00000052866
Gene: ENSMUSG00000043445
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase
|
28 |
270 |
9.3e-14 |
PFAM |
|
Pfam:Hydrolase_6
|
31 |
139 |
7.2e-30 |
PFAM |
|
Pfam:Hydrolase_like
|
232 |
315 |
3.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054946
|
| SMART Domains |
Protein: ENSMUSP00000059792
Gene: ENSMUSG00000045744
| Domain | Start | End | E-Value | Type |
|---|
|
BRICHOS
|
44 |
139 |
1.15e-37 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070888
AA Change: F252S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000065004
Gene: ENSMUSG00000024142
AA Change: F252S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
1 |
28 |
6e-11 |
BLAST |
|
WD40
|
31 |
69 |
1.67e-1 |
SMART |
|
WD40
|
74 |
113 |
1.19e-6 |
SMART |
|
WD40
|
118 |
156 |
1.63e-4 |
SMART |
|
WD40
|
159 |
198 |
4.46e-1 |
SMART |
|
WD40
|
209 |
248 |
2.26e-7 |
SMART |
|
WD40
|
259 |
298 |
1.7e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164508
|
| SMART Domains |
Protein: ENSMUSP00000130417
Gene: ENSMUSG00000045744
| Domain | Start | End | E-Value | Type |
|---|
|
BRICHOS
|
44 |
139 |
1.15e-37 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179163
AA Change: F252S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136287
Gene: ENSMUSG00000024142
AA Change: F252S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WD40
|
8 |
28 |
3.7e-3 |
PFAM |
|
WD40
|
31 |
69 |
1.67e-1 |
SMART |
|
WD40
|
74 |
113 |
1.19e-6 |
SMART |
|
WD40
|
118 |
156 |
1.63e-4 |
SMART |
|
WD40
|
159 |
198 |
4.46e-1 |
SMART |
|
WD40
|
209 |
248 |
2.26e-7 |
SMART |
|
WD40
|
259 |
298 |
1.7e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.3570 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation exhibit lethality around E10.5 and abnormal yolk sac vasculature, brain development and heart development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,662 (GRCm39) |
I473N |
probably damaging |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| A530064D06Rik |
T |
C |
17: 48,470,448 (GRCm39) |
I178V |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Aldh1l2 |
G |
A |
10: 83,363,199 (GRCm39) |
P55S |
probably damaging |
Het |
| Bglap3 |
T |
C |
3: 88,276,098 (GRCm39) |
T85A |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csrnp3 |
A |
G |
2: 65,852,553 (GRCm39) |
D315G |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,317,643 (GRCm39) |
Y760H |
probably damaging |
Het |
| Eef1akmt2 |
A |
G |
7: 132,438,935 (GRCm39) |
*52R |
probably null |
Het |
| Epc2 |
A |
G |
2: 49,418,866 (GRCm39) |
K225E |
probably damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Foxi2 |
C |
T |
7: 135,012,127 (GRCm39) |
T5M |
possibly damaging |
Het |
| Frmd4b |
T |
A |
6: 97,273,221 (GRCm39) |
T670S |
probably damaging |
Het |
| Gm14137 |
G |
T |
2: 119,005,961 (GRCm39) |
E173D |
probably damaging |
Het |
| Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
G |
A |
10: 39,823,184 (GRCm39) |
|
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mogs |
A |
G |
6: 83,094,296 (GRCm39) |
K371R |
probably benign |
Het |
| Nsun2 |
T |
C |
13: 69,691,727 (GRCm39) |
|
probably benign |
Het |
| Otog |
T |
A |
7: 45,954,932 (GRCm39) |
C2702S |
probably damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,107,020 (GRCm39) |
E905G |
probably damaging |
Het |
| Rtn4rl1 |
T |
C |
11: 75,156,087 (GRCm39) |
V173A |
probably benign |
Het |
| Sall3 |
T |
C |
18: 81,016,665 (GRCm39) |
E421G |
probably benign |
Het |
| Setd6 |
G |
A |
8: 96,442,903 (GRCm39) |
|
probably null |
Het |
| Sh3tc1 |
T |
C |
5: 35,871,403 (GRCm39) |
|
probably null |
Het |
| Slc35f5 |
T |
A |
1: 125,490,250 (GRCm39) |
Y71N |
probably benign |
Het |
| Snx1 |
A |
G |
9: 65,996,390 (GRCm39) |
|
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
C |
6: 48,472,089 (GRCm39) |
V792A |
probably benign |
Het |
| Sufu |
C |
A |
19: 46,462,038 (GRCm39) |
D350E |
probably benign |
Het |
| Trav18 |
C |
A |
14: 54,069,026 (GRCm39) |
Q23K |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Usp17le |
T |
A |
7: 104,418,311 (GRCm39) |
H277L |
probably benign |
Het |
| Wdsub1 |
A |
G |
2: 59,707,173 (GRCm39) |
S20P |
probably damaging |
Het |
|
| Other mutations in Mlst8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00985:Mlst8
|
APN |
17 |
24,696,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01893:Mlst8
|
APN |
17 |
24,696,961 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0104:Mlst8
|
UTSW |
17 |
24,695,091 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0104:Mlst8
|
UTSW |
17 |
24,695,091 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1915:Mlst8
|
UTSW |
17 |
24,696,264 (GRCm39) |
nonsense |
probably null |
|
|
R1952:Mlst8
|
UTSW |
17 |
24,696,987 (GRCm39) |
frame shift |
probably null |
|
|
R1953:Mlst8
|
UTSW |
17 |
24,696,987 (GRCm39) |
frame shift |
probably null |
|
|
R1954:Mlst8
|
UTSW |
17 |
24,696,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3405:Mlst8
|
UTSW |
17 |
24,697,099 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3406:Mlst8
|
UTSW |
17 |
24,697,099 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4517:Mlst8
|
UTSW |
17 |
24,695,031 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5021:Mlst8
|
UTSW |
17 |
24,696,193 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6344:Mlst8
|
UTSW |
17 |
24,696,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6490:Mlst8
|
UTSW |
17 |
24,696,935 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6668:Mlst8
|
UTSW |
17 |
24,696,453 (GRCm39) |
splice site |
probably null |
|
|
R6931:Mlst8
|
UTSW |
17 |
24,696,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7596:Mlst8
|
UTSW |
17 |
24,697,084 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7685:Mlst8
|
UTSW |
17 |
24,695,031 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAGGTTGTCAGAAGAAGCTG -3'
(R):5'- TTCAGCCCTGATTCCACGTG -3'
Sequencing Primer
(F):5'- CTAGGTTGTCAGAAGAAGCTGTAAGG -3'
(R):5'- TGATTCCACGTGCGTGTAC -3'
|
| Posted On |
2017-02-01 |
Incidental Mutation