Incidental Mutation 'R4285:Memo1'
ID |
322044 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Memo1
|
Ensembl Gene |
ENSMUSG00000058704 |
Gene Name |
mediator of cell motility 1 |
Synonyms |
D930048L02Rik, 0610016J10Rik |
MMRRC Submission |
041080-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4285 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
74506031-74602516 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to C
at 74562293 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077553
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078459]
[ENSMUST00000078459]
|
AlphaFold |
Q91VH6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000078459
|
SMART Domains |
Protein: ENSMUSP00000077553 Gene: ENSMUSG00000058704
Domain | Start | End | E-Value | Type |
Pfam:Memo
|
9 |
293 |
3.7e-84 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000078459
|
SMART Domains |
Protein: ENSMUSP00000077553 Gene: ENSMUSG00000058704
Domain | Start | End | E-Value | Type |
Pfam:Memo
|
9 |
293 |
3.7e-84 |
PFAM |
|
Meta Mutation Damage Score |
0.9483 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (42/43) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a floxed allele activated postnatally exhibit a reduced life span, increased insulin sensitivity, small stature, graying hair, alopecia, kyphosis, loss of subcutaneous fat, loss of spermatozoa in the epididymis and increased active vitamin D. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
G |
A |
3: 116,545,827 (GRCm39) |
S1323L |
possibly damaging |
Het |
Ahnak |
T |
A |
19: 8,994,203 (GRCm39) |
C5162* |
probably null |
Het |
Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
Cfap73 |
T |
C |
5: 120,770,654 (GRCm39) |
K39E |
possibly damaging |
Het |
Coq6 |
C |
T |
12: 84,417,178 (GRCm39) |
|
probably benign |
Het |
Dlc1 |
C |
T |
8: 37,041,282 (GRCm39) |
E1316K |
possibly damaging |
Het |
Dscam |
A |
G |
16: 96,510,309 (GRCm39) |
|
probably null |
Het |
Eya2 |
T |
A |
2: 165,566,700 (GRCm39) |
N250K |
probably benign |
Het |
Fat4 |
A |
G |
3: 38,943,320 (GRCm39) |
I738V |
probably benign |
Het |
Gria2 |
T |
G |
3: 80,614,969 (GRCm39) |
|
probably benign |
Het |
Hnrnph3 |
A |
T |
10: 62,852,247 (GRCm39) |
D238E |
probably damaging |
Het |
Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
Kctd19 |
G |
A |
8: 106,109,581 (GRCm39) |
|
probably benign |
Het |
Kdm1a |
T |
C |
4: 136,309,347 (GRCm39) |
|
probably null |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lamc1 |
C |
A |
1: 153,110,298 (GRCm39) |
G1126W |
probably damaging |
Het |
Magi3 |
C |
A |
3: 103,923,184 (GRCm39) |
G1178* |
probably null |
Het |
Man2a2 |
T |
C |
7: 80,018,367 (GRCm39) |
D141G |
probably damaging |
Het |
Map2k1 |
C |
A |
9: 64,119,925 (GRCm39) |
V127L |
probably damaging |
Het |
Mxd3 |
A |
G |
13: 55,477,167 (GRCm39) |
S31P |
probably benign |
Het |
Myo5b |
G |
A |
18: 74,847,920 (GRCm39) |
E1053K |
probably benign |
Het |
Nup50l |
T |
C |
6: 96,142,733 (GRCm39) |
T104A |
probably benign |
Het |
Or2m12 |
A |
C |
16: 19,104,714 (GRCm39) |
F260V |
probably damaging |
Het |
Or51a5 |
G |
T |
7: 102,771,867 (GRCm39) |
Y37* |
probably null |
Het |
Pex5l |
A |
G |
3: 33,061,336 (GRCm39) |
I171T |
probably damaging |
Het |
Plag1 |
A |
G |
4: 3,905,654 (GRCm39) |
V12A |
probably benign |
Het |
Podn |
C |
A |
4: 107,878,893 (GRCm39) |
V180L |
possibly damaging |
Het |
Prox2 |
T |
A |
12: 85,141,698 (GRCm39) |
R168S |
probably benign |
Het |
Prss29 |
A |
G |
17: 25,541,231 (GRCm39) |
Y225C |
probably damaging |
Het |
Rassf2 |
G |
A |
2: 131,847,314 (GRCm39) |
T97I |
probably benign |
Het |
Samm50 |
T |
C |
15: 84,081,213 (GRCm39) |
V47A |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slc20a2 |
G |
A |
8: 23,051,365 (GRCm39) |
R466Q |
probably benign |
Het |
Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
St6galnac3 |
A |
C |
3: 152,912,360 (GRCm39) |
V161G |
probably benign |
Het |
Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
probably damaging |
Het |
Vat1l |
A |
G |
8: 114,932,523 (GRCm39) |
E23G |
probably damaging |
Het |
Vmn2r91 |
A |
G |
17: 18,356,030 (GRCm39) |
T566A |
probably benign |
Het |
Wls |
A |
T |
3: 159,639,902 (GRCm39) |
H511L |
probably benign |
Het |
Zfp644 |
G |
A |
5: 106,782,984 (GRCm39) |
T1130I |
probably damaging |
Het |
|
Other mutations in Memo1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01410:Memo1
|
APN |
17 |
74,548,976 (GRCm39) |
nonsense |
probably null |
|
IGL01570:Memo1
|
APN |
17 |
74,524,103 (GRCm39) |
splice site |
probably benign |
|
IGL02709:Memo1
|
APN |
17 |
74,552,027 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03172:Memo1
|
APN |
17 |
74,551,996 (GRCm39) |
missense |
probably damaging |
1.00 |
Tummy
|
UTSW |
17 |
74,508,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R0067:Memo1
|
UTSW |
17 |
74,532,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R1068:Memo1
|
UTSW |
17 |
74,532,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R1962:Memo1
|
UTSW |
17 |
74,552,003 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1964:Memo1
|
UTSW |
17 |
74,552,003 (GRCm39) |
missense |
possibly damaging |
0.54 |
R2029:Memo1
|
UTSW |
17 |
74,552,049 (GRCm39) |
missense |
probably null |
0.99 |
R3236:Memo1
|
UTSW |
17 |
74,509,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R4284:Memo1
|
UTSW |
17 |
74,562,293 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4287:Memo1
|
UTSW |
17 |
74,562,293 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4427:Memo1
|
UTSW |
17 |
74,509,302 (GRCm39) |
missense |
probably benign |
0.01 |
R4583:Memo1
|
UTSW |
17 |
74,565,456 (GRCm39) |
nonsense |
probably null |
|
R4607:Memo1
|
UTSW |
17 |
74,565,456 (GRCm39) |
nonsense |
probably null |
|
R4608:Memo1
|
UTSW |
17 |
74,565,456 (GRCm39) |
nonsense |
probably null |
|
R6118:Memo1
|
UTSW |
17 |
74,509,302 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6769:Memo1
|
UTSW |
17 |
74,508,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R6771:Memo1
|
UTSW |
17 |
74,508,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R7226:Memo1
|
UTSW |
17 |
74,509,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R7996:Memo1
|
UTSW |
17 |
74,565,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R9696:Memo1
|
UTSW |
17 |
74,524,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TATGGTAGACTTTCAGACCAAGG -3'
(R):5'- AACAATTGCGTGTTCTCTACTACC -3'
Sequencing Primer
(F):5'- GTGTCAGAATGAAACATTTGACAAC -3'
(R):5'- GCGTGTTCTCTACTACCTTGTAAAG -3'
|
Posted On |
2015-06-20 |