Incidental Mutation 'R5021:Mlst8'
| ID |
389208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mlst8
|
| Ensembl Gene |
ENSMUSG00000024142 |
| Gene Name |
MTOR associated protein, LST8 homolog (S. cerevisiae) |
| Synonyms |
mLST8, Gbl, 0610033N12Rik |
| MMRRC Submission |
042612-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5021 (G1)
|
| Quality Score |
139 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24692525-24698052 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24696193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 179
(D179N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054946]
[ENSMUST00000070888]
[ENSMUST00000164508]
[ENSMUST00000179163]
|
| AlphaFold |
Q9DCJ1 |
| 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 |
possibly damaging
Transcript: ENSMUST00000070888
AA Change: D179N
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000065004
Gene: ENSMUSG00000024142
AA Change: D179N
| 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 |
possibly damaging
Transcript: ENSMUST00000179163
AA Change: D179N
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136287
Gene: ENSMUSG00000024142
AA Change: D179N
| 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 |
0.1143 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.8%
|
| Validation Efficiency |
95% (39/41) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano5 |
A |
T |
7: 51,205,933 (GRCm39) |
T242S |
probably benign |
Het |
| B3gnt4 |
G |
C |
5: 123,649,010 (GRCm39) |
R125P |
probably damaging |
Het |
| Blvrb |
A |
C |
7: 27,147,543 (GRCm39) |
M1L |
probably benign |
Het |
| Cep112 |
T |
A |
11: 108,361,154 (GRCm39) |
H169Q |
possibly damaging |
Het |
| Clcn1 |
A |
T |
6: 42,287,922 (GRCm39) |
K718* |
probably null |
Het |
| Clhc1 |
A |
G |
11: 29,510,627 (GRCm39) |
N226S |
probably benign |
Het |
| Cpne1 |
T |
C |
2: 155,940,193 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
G |
A |
9: 56,805,014 (GRCm39) |
V1942I |
probably benign |
Het |
| Decr2 |
A |
T |
17: 26,301,980 (GRCm39) |
L250Q |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,136,758 (GRCm39) |
T1343A |
probably damaging |
Het |
| Eed |
A |
T |
7: 89,621,513 (GRCm39) |
L45M |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,524,224 (GRCm39) |
S1351T |
unknown |
Het |
| Fam184b |
T |
A |
5: 45,730,604 (GRCm39) |
Q476L |
probably benign |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,841,333 (GRCm39) |
D39G |
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,864,832 (GRCm39) |
Y206H |
probably damaging |
Het |
| Ighv1-19 |
T |
C |
12: 114,672,686 (GRCm39) |
I6V |
probably benign |
Het |
| Itm2c |
T |
C |
1: 85,833,059 (GRCm39) |
I131T |
probably damaging |
Het |
| Kcnd3 |
A |
T |
3: 105,566,070 (GRCm39) |
D417V |
probably damaging |
Het |
| Klf4 |
T |
C |
4: 55,530,970 (GRCm39) |
E38G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,228,302 (GRCm39) |
M1064V |
probably benign |
Het |
| Map4 |
C |
T |
9: 109,867,157 (GRCm39) |
Q265* |
probably null |
Het |
| Mcf2l |
T |
G |
8: 13,061,808 (GRCm39) |
V893G |
probably damaging |
Het |
| Mup6 |
T |
A |
4: 59,964,352 (GRCm39) |
N18K |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,466,531 (GRCm39) |
R764W |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,248,869 (GRCm39) |
S1478R |
probably benign |
Het |
| Pcdhga1 |
C |
A |
18: 37,796,876 (GRCm39) |
R627S |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,411,393 (GRCm39) |
D394G |
probably damaging |
Het |
| Schip1 |
A |
G |
3: 68,402,585 (GRCm39) |
T221A |
probably benign |
Het |
| Slc35c1 |
A |
G |
2: 92,289,366 (GRCm39) |
Y47H |
possibly damaging |
Het |
| Tspan32 |
A |
G |
7: 142,568,715 (GRCm39) |
D70G |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,882,942 (GRCm39) |
Y270C |
possibly damaging |
Het |
| Zfp777 |
A |
G |
6: 48,019,061 (GRCm39) |
V291A |
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 |
|
IGL02984:Mlst8
|
UTSW |
17 |
24,695,127 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- TGGACATGAGGAGTGGTACC -3'
(R):5'- CCAGGTGAGGAATGCTCATG -3'
Sequencing Primer
(F):5'- GTACCCAGGTGCCTGACTTTG -3'
(R):5'- TGAGGAATGCTCATGGGGCC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation