Incidental Mutation 'R6668:Mlst8'
ID |
527083 |
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 |
044788-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6668 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24692525-24698052 bp(-) (GRCm39) |
Type of Mutation |
splice site (2092 bp from exon) |
DNA Base Change (assembly) |
A to G
at 24696453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130417
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054946]
[ENSMUST00000070888]
[ENSMUST00000164508]
[ENSMUST00000179163]
|
AlphaFold |
Q9DCJ1 |
Predicted Effect |
probably null
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: I124T
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000065004 Gene: ENSMUSG00000024142 AA Change: I124T
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 null
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: I124T
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000136287 Gene: ENSMUSG00000024142 AA Change: I124T
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 |
0.1043 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (42/42) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aanat |
G |
T |
11: 116,486,868 (GRCm39) |
|
probably benign |
Het |
Adam26b |
A |
T |
8: 43,973,727 (GRCm39) |
V425D |
possibly damaging |
Het |
Ahctf1 |
A |
G |
1: 179,579,972 (GRCm39) |
S2077P |
probably benign |
Het |
Amacr |
A |
G |
15: 10,983,468 (GRCm39) |
T93A |
probably benign |
Het |
Arsb |
T |
A |
13: 93,930,728 (GRCm39) |
|
probably null |
Het |
Bcas3 |
G |
A |
11: 85,692,677 (GRCm39) |
R354Q |
probably damaging |
Het |
Chia1 |
C |
T |
3: 106,038,264 (GRCm39) |
L387F |
probably damaging |
Het |
Cyp24a1 |
A |
T |
2: 170,327,805 (GRCm39) |
|
probably null |
Het |
Dennd4a |
G |
A |
9: 64,794,247 (GRCm39) |
G689S |
probably damaging |
Het |
Elovl4 |
G |
A |
9: 83,688,039 (GRCm39) |
A18V |
probably benign |
Het |
Fam135a |
A |
T |
1: 24,067,929 (GRCm39) |
V80E |
probably damaging |
Het |
Fmo2 |
T |
A |
1: 162,704,617 (GRCm39) |
T430S |
probably benign |
Het |
Fpgs |
T |
C |
2: 32,577,618 (GRCm39) |
I213V |
probably benign |
Het |
Gm10134 |
A |
T |
2: 28,396,263 (GRCm39) |
R53* |
probably null |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Ift172 |
T |
C |
5: 31,412,683 (GRCm39) |
N1524S |
probably benign |
Het |
Kif1b |
G |
A |
4: 149,297,864 (GRCm39) |
S1104F |
probably benign |
Het |
Map3k21 |
T |
C |
8: 126,652,852 (GRCm39) |
V326A |
possibly damaging |
Het |
Muc16 |
A |
T |
9: 18,551,681 (GRCm39) |
S4871T |
probably benign |
Het |
Myo1d |
A |
G |
11: 80,474,701 (GRCm39) |
|
probably benign |
Het |
Ndufa3 |
A |
G |
7: 3,622,465 (GRCm39) |
Y41C |
probably damaging |
Het |
Nfkbid |
T |
A |
7: 30,123,866 (GRCm39) |
L142Q |
probably benign |
Het |
Or8b38 |
T |
A |
9: 37,973,066 (GRCm39) |
M150K |
possibly damaging |
Het |
Peg10 |
T |
A |
6: 4,754,502 (GRCm39) |
D94E |
probably benign |
Het |
Phactr3 |
A |
T |
2: 177,974,657 (GRCm39) |
I492F |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,492,396 (GRCm39) |
V1751A |
possibly damaging |
Het |
Prss16 |
T |
C |
13: 22,190,918 (GRCm39) |
E238G |
probably null |
Het |
Rad51ap2 |
T |
C |
12: 11,507,647 (GRCm39) |
V523A |
probably benign |
Het |
Rbm33 |
T |
A |
5: 28,547,498 (GRCm39) |
S223T |
probably benign |
Het |
Ryk |
T |
A |
9: 102,746,475 (GRCm39) |
F137I |
possibly damaging |
Het |
Sars2 |
G |
A |
7: 28,446,429 (GRCm39) |
E194K |
probably benign |
Het |
Spata2l |
T |
C |
8: 123,960,167 (GRCm39) |
D374G |
probably damaging |
Het |
Tenm2 |
A |
G |
11: 35,937,592 (GRCm39) |
|
probably null |
Het |
Ubr4 |
A |
G |
4: 139,192,652 (GRCm39) |
K1097E |
probably damaging |
Het |
Ulk4 |
A |
T |
9: 121,017,408 (GRCm39) |
V690E |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,410,659 (GRCm39) |
N2703S |
probably damaging |
Het |
Zfp273 |
C |
G |
13: 67,973,243 (GRCm39) |
L124V |
probably damaging |
Het |
Zfp608 |
A |
G |
18: 55,031,091 (GRCm39) |
S950P |
probably damaging |
Het |
Zfp994 |
A |
T |
17: 22,420,081 (GRCm39) |
H289Q |
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 |
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 |
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'- ATCAGCTGCTCATTGTGGTC -3'
(R):5'- TTCACTGACCTCAAGCTTGTG -3'
Sequencing Primer
(F):5'- ATGTGGATAGCACCGCTCTGATC -3'
(R):5'- CTTGTGGAGAAAGAGCTAAACTTCAC -3'
|
Posted On |
2018-07-23 |