Incidental Mutation 'R4517:Mlst8'
ID |
332967 |
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 |
041761-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4517 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24692525-24698052 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24695031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 284
(Y284C)
|
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: Y284C
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000065004 Gene: ENSMUSG00000024142 AA Change: Y284C
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: Y284C
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000136287 Gene: ENSMUSG00000024142 AA Change: Y284C
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 |
0.7793 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank |
A |
G |
15: 27,562,835 (GRCm39) |
H181R |
possibly damaging |
Het |
B4galnt4 |
A |
G |
7: 140,647,635 (GRCm39) |
K408E |
probably damaging |
Het |
Cd209a |
T |
A |
8: 3,795,525 (GRCm39) |
D123V |
probably damaging |
Het |
Cyp4f37 |
A |
G |
17: 32,850,566 (GRCm39) |
I340V |
probably benign |
Het |
Echs1 |
A |
G |
7: 139,692,409 (GRCm39) |
S113P |
possibly damaging |
Het |
Fap |
T |
C |
2: 62,361,059 (GRCm39) |
I391V |
probably benign |
Het |
Glb1l |
C |
T |
1: 75,185,347 (GRCm39) |
C121Y |
probably damaging |
Het |
Glod4 |
T |
A |
11: 76,134,397 (GRCm39) |
D25V |
probably damaging |
Het |
Gpc5 |
T |
A |
14: 115,789,651 (GRCm39) |
N508K |
possibly damaging |
Het |
H2-M10.3 |
C |
T |
17: 36,678,722 (GRCm39) |
|
probably null |
Het |
Ibsp |
C |
A |
5: 104,453,863 (GRCm39) |
S67* |
probably null |
Het |
Ifit1bl2 |
C |
T |
19: 34,607,164 (GRCm39) |
|
probably benign |
Het |
Iqgap2 |
A |
G |
13: 95,800,569 (GRCm39) |
|
probably null |
Het |
Kcnma1 |
A |
G |
14: 23,387,097 (GRCm39) |
S982P |
probably damaging |
Het |
Kif5b |
T |
C |
18: 6,213,272 (GRCm39) |
S707G |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,589,323 (GRCm39) |
I437V |
probably benign |
Het |
Mapkbp1 |
T |
C |
2: 119,855,545 (GRCm39) |
|
probably benign |
Het |
Mcu |
T |
C |
10: 59,303,456 (GRCm39) |
Y127C |
probably damaging |
Het |
Nr2f2 |
T |
G |
7: 70,007,870 (GRCm39) |
N204T |
probably benign |
Het |
Or13a26 |
A |
G |
7: 140,285,004 (GRCm39) |
Y280C |
probably damaging |
Het |
Or7a42 |
T |
A |
10: 78,791,877 (GRCm39) |
Y279* |
probably null |
Het |
Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
Pcf11 |
T |
C |
7: 92,295,696 (GRCm39) |
Y1451C |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,309,988 (GRCm39) |
S109G |
probably damaging |
Het |
Rttn |
T |
C |
18: 89,047,097 (GRCm39) |
S920P |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Tas2r135 |
A |
T |
6: 42,383,013 (GRCm39) |
H184L |
probably benign |
Het |
Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Vmn2r102 |
A |
G |
17: 19,901,475 (GRCm39) |
Y534C |
probably damaging |
Het |
Wdr62 |
A |
G |
7: 29,969,683 (GRCm39) |
V259A |
probably damaging |
Het |
Whrn |
A |
G |
4: 63,379,517 (GRCm39) |
|
probably null |
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 |
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'- TAACCCAGCACACTGTCATTG -3'
(R):5'- TGAGACACCCCATGTTCAAC -3'
Sequencing Primer
(F):5'- GCAGACGACAGCTTTCTGATG -3'
(R):5'- ATGTTCAACCCCAGGCTTC -3'
|
Posted On |
2015-08-18 |