Incidental Mutation 'R3691:Mxi1'
| ID |
268803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mxi1
|
| Ensembl Gene |
ENSMUSG00000025025 |
| Gene Name |
MAX interactor 1, dimerization protein |
| Synonyms |
bHLHc11, Mad2 |
| MMRRC Submission |
040686-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.312)
|
| Stock # |
R3691 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
53298509-53361724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53358062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 73
(L73P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003870]
[ENSMUST00000025998]
[ENSMUST00000086887]
[ENSMUST00000111737]
|
| AlphaFold |
P50540 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003870
AA Change: L176P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003870
Gene: ENSMUSG00000025025
AA Change: L176P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
45 |
N/A |
INTRINSIC |
|
HLH
|
140 |
192 |
4.4e-11 |
SMART |
|
low complexity region
|
230 |
252 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025998
AA Change: L109P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025998
Gene: ENSMUSG00000025025
AA Change: L109P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
HLH
|
73 |
125 |
4.4e-11 |
SMART |
|
low complexity region
|
163 |
185 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086887
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111737
AA Change: L73P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107366
Gene: ENSMUSG00000025025
AA Change: L73P
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
37 |
89 |
4.4e-11 |
SMART |
|
low complexity region
|
127 |
149 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9743 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein containing a helix-loop-helix domain characteristic of transcription factors, which allows heterodimerization and sequence-specific DNA binding. The encoded protein is related to a family of Myc/Max/Mad proteins that are involved in the regulation of several cellular processes. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate Myc function. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show multisystem anomalies including progressive hyperplasia in the spleen and prostate, degenerative changes in the kidney, and increased sensitivity to carcinogens. In addition, mutant embryo fibroblasts are more prone to transformation by the Myc and Ras oncogenes. [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 |
|---|
| Afdn |
A |
G |
17: 14,108,671 (GRCm39) |
E1398G |
probably damaging |
Het |
| Avl9 |
C |
T |
6: 56,713,812 (GRCm39) |
H357Y |
probably benign |
Het |
| Best2 |
A |
G |
8: 85,737,883 (GRCm39) |
F171L |
probably benign |
Het |
| Btbd19 |
A |
T |
4: 116,977,789 (GRCm39) |
|
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,758,419 (GRCm39) |
S254P |
probably damaging |
Het |
| Cfap43 |
G |
A |
19: 47,885,512 (GRCm39) |
L368F |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
T |
C |
14: 75,991,878 (GRCm39) |
M1V |
probably null |
Het |
| Drosha |
G |
A |
15: 12,834,724 (GRCm39) |
R276H |
unknown |
Het |
| Efr3b |
T |
A |
12: 4,032,059 (GRCm39) |
D183V |
possibly damaging |
Het |
| Epha1 |
T |
C |
6: 42,338,064 (GRCm39) |
T794A |
probably damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,887 (GRCm39) |
V281I |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,610,583 (GRCm39) |
Y571C |
probably benign |
Het |
| Flywch1 |
G |
A |
17: 23,982,186 (GRCm39) |
P6L |
probably damaging |
Het |
| Foxj3 |
T |
C |
4: 119,473,839 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,929,371 (GRCm39) |
T3925I |
probably benign |
Het |
| Gk5 |
T |
C |
9: 96,011,149 (GRCm39) |
|
probably null |
Het |
| Gm12588 |
T |
G |
11: 121,796,751 (GRCm39) |
Q366P |
possibly damaging |
Het |
| Gm3248 |
A |
G |
14: 5,943,068 (GRCm38) |
I161T |
probably damaging |
Het |
| Gzmg |
T |
A |
14: 56,395,134 (GRCm39) |
|
probably benign |
Het |
| Lrrc69 |
A |
T |
4: 14,795,980 (GRCm39) |
N22K |
possibly damaging |
Het |
| Med13l |
A |
G |
5: 118,859,562 (GRCm39) |
R250G |
probably benign |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Napb |
T |
C |
2: 148,544,977 (GRCm39) |
|
probably null |
Het |
| Nsun2 |
A |
G |
13: 69,760,456 (GRCm39) |
N45D |
probably damaging |
Het |
| Or10ag2 |
T |
C |
2: 87,248,514 (GRCm39) |
F39L |
probably benign |
Het |
| Oxct1 |
A |
G |
15: 4,076,999 (GRCm39) |
M111V |
probably benign |
Het |
| Pcnx4 |
A |
G |
12: 72,620,493 (GRCm39) |
D771G |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,668 (GRCm39) |
D27G |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,146,797 (GRCm39) |
F523S |
probably benign |
Het |
| Zan |
A |
G |
5: 137,418,281 (GRCm39) |
I2939T |
unknown |
Het |
| Zfc3h1 |
A |
G |
10: 115,256,595 (GRCm39) |
T1522A |
probably benign |
Het |
|
| Other mutations in Mxi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1895:Mxi1
|
UTSW |
19 |
53,358,775 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3774:Mxi1
|
UTSW |
19 |
53,360,160 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3775:Mxi1
|
UTSW |
19 |
53,360,160 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3776:Mxi1
|
UTSW |
19 |
53,360,160 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4020:Mxi1
|
UTSW |
19 |
53,360,160 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4825:Mxi1
|
UTSW |
19 |
53,358,769 (GRCm39) |
nonsense |
probably null |
|
|
R4832:Mxi1
|
UTSW |
19 |
53,358,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Mxi1
|
UTSW |
19 |
53,360,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7480:Mxi1
|
UTSW |
19 |
53,360,066 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7487:Mxi1
|
UTSW |
19 |
53,360,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7891:Mxi1
|
UTSW |
19 |
53,299,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8236:Mxi1
|
UTSW |
19 |
53,358,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8843:Mxi1
|
UTSW |
19 |
53,360,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8851:Mxi1
|
UTSW |
19 |
53,360,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8863:Mxi1
|
UTSW |
19 |
53,360,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8869:Mxi1
|
UTSW |
19 |
53,360,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8870:Mxi1
|
UTSW |
19 |
53,360,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9428:Mxi1
|
UTSW |
19 |
53,299,213 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTTGGCTAATAGCTCAAAG -3'
(R):5'- TCAGGGTATCGGAAAGACCTTC -3'
Sequencing Primer
(F):5'- GGCTAATAGCTCAAAGTTGCTG -3'
(R):5'- CCAGCATTCTCAGGTCTAGATGG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation