Incidental Mutation 'R3909:Mxd1'
ID |
309299 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mxd1
|
Ensembl Gene |
ENSMUSG00000001156 |
Gene Name |
MAX dimerization protein 1 |
Synonyms |
Mad1, Mad |
MMRRC Submission |
040814-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.518)
|
Stock # |
R3909 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
86624026-86646099 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 86627942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 199
(Q199K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001184
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001184]
[ENSMUST00000203946]
[ENSMUST00000204437]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001184
AA Change: Q199K
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000001184 Gene: ENSMUSG00000001156 AA Change: Q199K
Domain | Start | End | E-Value | Type |
PDB:1PD7|B
|
5 |
28 |
6e-7 |
PDB |
HLH
|
61 |
113 |
1.14e-9 |
SMART |
low complexity region
|
143 |
175 |
N/A |
INTRINSIC |
low complexity region
|
181 |
197 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203946
|
SMART Domains |
Protein: ENSMUSP00000145081 Gene: ENSMUSG00000001156
Domain | Start | End | E-Value | Type |
HLH
|
6 |
58 |
4.8e-12 |
SMART |
low complexity region
|
88 |
104 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204437
|
SMART Domains |
Protein: ENSMUSP00000145396 Gene: ENSMUSG00000001156
Domain | Start | End | E-Value | Type |
PDB:1PD7|B
|
5 |
28 |
3e-8 |
PDB |
|
Meta Mutation Damage Score |
0.1005 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (35/35) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the MYC/MAX/MAD network of basic helix-loop-helix leucine zipper transcription factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiation and apoptosis. The encoded protein antagonizes MYC-mediated transcriptional activation of target genes by competing for the binding partner MAX and recruiting repressor complexes containing histone deacetylases. Mutations in this gene may play a role in acute leukemia, and the encoded protein is a potential tumor suppressor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered myelopoiesis, increased proliferative potential of bone marrow granulocytic precursors, increased sensitivity of myeloid cells to apoptosis-inducing stimuli, and inhibited cell cycle withdrawal during a late stage of granulocyte differentiation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,625,125 (GRCm39) |
F501Y |
probably damaging |
Het |
Alk |
T |
C |
17: 72,204,906 (GRCm39) |
T1089A |
probably benign |
Het |
Ankrd12 |
G |
T |
17: 66,291,000 (GRCm39) |
P1478T |
probably benign |
Het |
Arhgap39 |
A |
G |
15: 76,636,088 (GRCm39) |
V49A |
probably benign |
Het |
Arid4b |
T |
C |
13: 14,307,069 (GRCm39) |
L108P |
probably damaging |
Het |
Atrn |
T |
A |
2: 130,836,127 (GRCm39) |
C1136S |
probably damaging |
Het |
Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
Cacng1 |
C |
A |
11: 107,607,118 (GRCm39) |
V34L |
probably benign |
Het |
Casp8 |
T |
C |
1: 58,883,970 (GRCm39) |
S446P |
probably damaging |
Het |
Cngb3 |
G |
A |
4: 19,461,679 (GRCm39) |
C520Y |
probably damaging |
Het |
Crim1 |
C |
T |
17: 78,588,668 (GRCm39) |
|
probably benign |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Fbxl17 |
G |
A |
17: 63,806,802 (GRCm39) |
P71S |
possibly damaging |
Het |
Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
Gbp3 |
C |
T |
3: 142,272,099 (GRCm39) |
|
probably benign |
Het |
Golga4 |
A |
G |
9: 118,387,804 (GRCm39) |
D1642G |
possibly damaging |
Het |
Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
Hyls1 |
T |
C |
9: 35,472,705 (GRCm39) |
D237G |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,706,624 (GRCm39) |
N1396D |
probably benign |
Het |
Lasp1 |
G |
A |
11: 97,690,653 (GRCm39) |
V12M |
probably damaging |
Het |
Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
Muc5b |
C |
T |
7: 141,403,235 (GRCm39) |
T732M |
unknown |
Het |
Or14a258 |
T |
A |
7: 86,035,182 (GRCm39) |
T229S |
probably benign |
Het |
Or4a78 |
T |
C |
2: 89,497,357 (GRCm39) |
E291G |
probably damaging |
Het |
Or5w18 |
T |
A |
2: 87,633,031 (GRCm39) |
F95L |
probably benign |
Het |
Or5w20 |
T |
A |
2: 87,727,293 (GRCm39) |
|
probably null |
Het |
Prps1l1 |
A |
T |
12: 35,035,797 (GRCm39) |
H304L |
possibly damaging |
Het |
Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
Rlf |
G |
A |
4: 121,006,229 (GRCm39) |
T917I |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,466,953 (GRCm39) |
D4704G |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,104,332 (GRCm39) |
I1643F |
probably damaging |
Het |
Vmn2r38 |
T |
C |
7: 9,078,553 (GRCm39) |
K610E |
probably damaging |
Het |
Zfc3h1 |
T |
C |
10: 115,255,806 (GRCm39) |
F1486L |
probably benign |
Het |
|
Other mutations in Mxd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
LCD18:Mxd1
|
UTSW |
6 |
86,644,388 (GRCm39) |
intron |
probably benign |
|
R1385:Mxd1
|
UTSW |
6 |
86,628,549 (GRCm39) |
missense |
probably damaging |
0.96 |
R1510:Mxd1
|
UTSW |
6 |
86,630,137 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1595:Mxd1
|
UTSW |
6 |
86,628,453 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2126:Mxd1
|
UTSW |
6 |
86,628,422 (GRCm39) |
critical splice donor site |
probably null |
|
R3905:Mxd1
|
UTSW |
6 |
86,627,942 (GRCm39) |
missense |
probably benign |
0.44 |
R3907:Mxd1
|
UTSW |
6 |
86,627,942 (GRCm39) |
missense |
probably benign |
0.44 |
R6048:Mxd1
|
UTSW |
6 |
86,627,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R7060:Mxd1
|
UTSW |
6 |
86,630,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R7351:Mxd1
|
UTSW |
6 |
86,628,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R8969:Mxd1
|
UTSW |
6 |
86,628,466 (GRCm39) |
missense |
probably benign |
0.04 |
R9315:Mxd1
|
UTSW |
6 |
86,627,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R9711:Mxd1
|
UTSW |
6 |
86,645,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTGCAAAGTGGACAGAGC -3'
(R):5'- GTAAGAGTTAGGTAGCCAAGCC -3'
Sequencing Primer
(F):5'- CAGAGCTGCTATTGGTCAAGG -3'
(R):5'- TTAGGTAGCCAAGCCCAAGG -3'
|
Posted On |
2015-04-17 |