Incidental Mutation 'R6118:Memo1'
| ID |
485230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Memo1
|
| Ensembl Gene |
ENSMUSG00000058704 |
| Gene Name |
mediator of cell motility 1 |
| Synonyms |
D930048L02Rik, 0610016J10Rik |
| MMRRC Submission |
044267-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6118 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
74506031-74602516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74509302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 239
(Y239C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078459]
|
| AlphaFold |
Q91VH6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078459
AA Change: Y239C
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000077553
Gene: ENSMUSG00000058704
AA Change: Y239C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Memo
|
9 |
293 |
3.7e-84 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
G |
10: 10,307,035 (GRCm39) |
K316N |
probably damaging |
Het |
| Als2 |
A |
T |
1: 59,242,228 (GRCm39) |
V609E |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,830,231 (GRCm39) |
I71V |
probably damaging |
Het |
| Antxr2 |
T |
A |
5: 98,097,060 (GRCm39) |
D351V |
probably damaging |
Het |
| Arel1 |
A |
G |
12: 84,988,713 (GRCm39) |
V12A |
possibly damaging |
Het |
| Atad1 |
C |
T |
19: 32,664,697 (GRCm39) |
R239H |
possibly damaging |
Het |
| B3galnt2 |
A |
G |
13: 14,166,094 (GRCm39) |
T330A |
probably damaging |
Het |
| Bag6 |
T |
A |
17: 35,362,600 (GRCm39) |
I636N |
probably damaging |
Het |
| C1qtnf6 |
T |
C |
15: 78,409,595 (GRCm39) |
D84G |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,705,654 (GRCm39) |
V215A |
possibly damaging |
Het |
| Chtf18 |
C |
T |
17: 25,938,133 (GRCm39) |
D967N |
probably damaging |
Het |
| Cntnap2 |
T |
A |
6: 47,170,011 (GRCm39) |
I1159K |
possibly damaging |
Het |
| Col2a1 |
T |
C |
15: 97,896,448 (GRCm39) |
D67G |
unknown |
Het |
| Csde1 |
T |
A |
3: 102,962,070 (GRCm39) |
V627E |
probably benign |
Het |
| Epb41l1 |
G |
A |
2: 156,364,397 (GRCm39) |
E969K |
probably benign |
Het |
| Fam53c |
A |
C |
18: 34,901,743 (GRCm39) |
E220A |
probably damaging |
Het |
| Gabbr2 |
C |
T |
4: 46,736,459 (GRCm39) |
R474Q |
probably damaging |
Het |
| H2bc18 |
T |
A |
3: 96,177,267 (GRCm39) |
V67E |
probably damaging |
Het |
| Hap1 |
G |
T |
11: 100,246,620 (GRCm39) |
T95N |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,075,791 (GRCm39) |
K1886R |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,503,717 (GRCm39) |
D1007G |
probably damaging |
Het |
| Mcm2 |
C |
T |
6: 88,864,818 (GRCm39) |
A553T |
probably damaging |
Het |
| Meox2 |
GCACCACCACCACCACCACCA |
GCACCACCACCACCACCA |
12: 37,159,030 (GRCm39) |
|
probably benign |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Obsl1 |
A |
G |
1: 75,468,722 (GRCm39) |
|
probably benign |
Het |
| Or4c107 |
T |
A |
2: 88,789,462 (GRCm39) |
Y217* |
probably null |
Het |
| Or8k35 |
T |
A |
2: 86,424,758 (GRCm39) |
H138L |
probably benign |
Het |
| Pold3 |
A |
G |
7: 99,745,614 (GRCm39) |
S180P |
possibly damaging |
Het |
| Rbm12b2 |
T |
C |
4: 12,095,135 (GRCm39) |
S665P |
probably benign |
Het |
| Rfc4 |
A |
T |
16: 22,939,693 (GRCm39) |
S86T |
probably damaging |
Het |
| Rfx6 |
T |
A |
10: 51,587,962 (GRCm39) |
N277K |
possibly damaging |
Het |
| Ryr2 |
C |
A |
13: 11,807,575 (GRCm39) |
V865F |
possibly damaging |
Het |
| Skint4 |
T |
A |
4: 111,977,019 (GRCm39) |
|
probably null |
Het |
| Slc38a10 |
T |
C |
11: 120,023,669 (GRCm39) |
Y249C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,603,236 (GRCm39) |
T206A |
probably benign |
Het |
| Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Tbc1d1 |
C |
T |
5: 64,441,380 (GRCm39) |
L655F |
probably damaging |
Het |
| Tpp2 |
A |
T |
1: 43,979,306 (GRCm39) |
I68F |
probably damaging |
Het |
| Trim30c |
G |
T |
7: 104,031,288 (GRCm39) |
T509K |
probably benign |
Het |
| Zfp827 |
G |
T |
8: 79,803,067 (GRCm39) |
K546N |
possibly 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 |
|
|
R4285: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 |
|
|
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'- GCCTCTCTTCCAAATAATTGTGTTGAC -3'
(R):5'- TGAAGGTGCCTTACAAGCATC -3'
Sequencing Primer
(F):5'- TGTGTTGACAGACATTATTGATCTG -3'
(R):5'- GGGTATGAGTATTATAGA -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation