Incidental Mutation 'R3077:Mnt'
| ID |
265264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mnt
|
| Ensembl Gene |
ENSMUSG00000000282 |
| Gene Name |
max binding protein |
| Synonyms |
bHLHd3, Rox |
| MMRRC Submission |
040567-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R3077 (G1)
|
| Quality Score |
117 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
74721746-74736551 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to C
at 74733936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000291]
[ENSMUST00000132150]
|
| AlphaFold |
O08789 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000000291
AA Change: Q522H
|
| SMART Domains |
Protein: ENSMUSP00000000291
Gene: ENSMUSG00000000282
AA Change: Q522H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
3 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
205 |
N/A |
INTRINSIC |
|
HLH
|
228 |
279 |
2.99e-13 |
SMART |
|
low complexity region
|
368 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
527 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132150
|
| SMART Domains |
Protein: ENSMUSP00000118435
Gene: ENSMUSG00000000282
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
1 |
47 |
2.92e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Myc/Max/Mad network comprises a group of transcription factors that co-interact to regulate gene-specific transcriptional activation or repression. This gene encodes a protein member of the Myc/Max/Mad network. This protein has a basic-Helix-Loop-Helix-zipper domain (bHLHzip) with which it binds the canonical DNA sequence CANNTG, known as the E box, following heterodimerization with Max proteins. This protein is likely a transcriptional repressor and an antagonist of Myc-dependent transcriptional activation and cell growth. This protein represses transcription by binding to DNA binding proteins at its N-terminal Sin3-interaction domain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygotes for a targeted null mutation are runted at birth and die within a few days, while mutant fibroblasts show abnormal cell cycling. Those homozygotes that survive are fertile and attain normal Heterozygotes for a conditional mammary epithelial specific knockout develop adenocarcinomas. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,306,764 (GRCm39) |
I1981V |
probably benign |
Het |
| Adgrd1 |
A |
T |
5: 129,206,169 (GRCm39) |
I248F |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,479,278 (GRCm39) |
I1446V |
probably damaging |
Het |
| Cabcoco1 |
T |
G |
10: 68,361,475 (GRCm39) |
Y8S |
possibly damaging |
Het |
| Champ1 |
T |
C |
8: 13,928,832 (GRCm39) |
V330A |
probably benign |
Het |
| Dnajc8 |
A |
G |
4: 132,271,974 (GRCm39) |
D70G |
probably damaging |
Het |
| Kif14 |
T |
G |
1: 136,447,383 (GRCm39) |
I1396S |
possibly damaging |
Het |
| Nhsl2 |
C |
T |
X: 101,121,201 (GRCm39) |
R62W |
probably damaging |
Het |
| Or1e29 |
G |
A |
11: 73,667,466 (GRCm39) |
P229L |
possibly damaging |
Het |
| Or51a7 |
G |
T |
7: 102,615,223 (GRCm39) |
K305N |
probably benign |
Het |
| Pcdhb11 |
C |
T |
18: 37,555,297 (GRCm39) |
T209I |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,293,588 (GRCm39) |
|
probably null |
Het |
| Phactr4 |
A |
G |
4: 132,125,307 (GRCm39) |
M1T |
probably null |
Het |
| Pwwp2a |
A |
G |
11: 43,596,212 (GRCm39) |
N184S |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,046,157 (GRCm39) |
V958A |
probably damaging |
Het |
| Smc3 |
A |
G |
19: 53,616,322 (GRCm39) |
E449G |
probably benign |
Het |
| Snap91 |
T |
A |
9: 86,720,907 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Trim34b |
A |
G |
7: 103,980,508 (GRCm39) |
R199G |
possibly damaging |
Het |
| Unc45a |
A |
C |
7: 79,988,680 (GRCm39) |
V112G |
probably damaging |
Het |
| Vwa8 |
A |
T |
14: 79,335,782 (GRCm39) |
N1413Y |
probably benign |
Het |
| Zcchc9 |
A |
T |
13: 91,954,101 (GRCm39) |
N51K |
probably benign |
Het |
| Zfp628 |
A |
G |
7: 4,924,199 (GRCm39) |
E807G |
possibly damaging |
Het |
| Zfp647 |
A |
T |
15: 76,802,209 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Mnt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:Mnt
|
APN |
11 |
74,733,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0599:Mnt
|
UTSW |
11 |
74,733,122 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2100:Mnt
|
UTSW |
11 |
74,722,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3076:Mnt
|
UTSW |
11 |
74,733,936 (GRCm39) |
intron |
probably benign |
|
|
R3078:Mnt
|
UTSW |
11 |
74,733,936 (GRCm39) |
intron |
probably benign |
|
|
R3605:Mnt
|
UTSW |
11 |
74,727,746 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4601:Mnt
|
UTSW |
11 |
74,727,285 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5766:Mnt
|
UTSW |
11 |
74,733,904 (GRCm39) |
intron |
probably benign |
|
|
R6340:Mnt
|
UTSW |
11 |
74,727,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6988:Mnt
|
UTSW |
11 |
74,733,635 (GRCm39) |
intron |
probably benign |
|
|
R7460:Mnt
|
UTSW |
11 |
74,734,109 (GRCm39) |
missense |
unknown |
|
|
R7970:Mnt
|
UTSW |
11 |
74,733,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8145:Mnt
|
UTSW |
11 |
74,733,799 (GRCm39) |
missense |
unknown |
|
|
R8544:Mnt
|
UTSW |
11 |
74,722,218 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9088:Mnt
|
UTSW |
11 |
74,733,880 (GRCm39) |
missense |
unknown |
|
|
R9388:Mnt
|
UTSW |
11 |
74,727,450 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1176:Mnt
|
UTSW |
11 |
74,727,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGACTGTGAACCATGTTC -3'
(R):5'- TTGAGTGTGCTGACCGGAAAG -3'
Sequencing Primer
(F):5'- CAGACTGTGAACCATGTTCTGCAG -3'
(R):5'- CTGACCGGAAAGGAGGGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation