Incidental Mutation 'R4202:Maml1'
| ID |
318802 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Maml1
|
| Ensembl Gene |
ENSMUSG00000050567 |
| Gene Name |
mastermind like transcriptional coactivator 1 |
| Synonyms |
Mam-1, D930008C07Rik |
| MMRRC Submission |
041032-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4202 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
50146461-50183138 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 50148740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 1000
(L1000Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059458]
|
| AlphaFold |
Q6T264 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059458
AA Change: L1000Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059210
Gene: ENSMUSG00000050567
AA Change: L1000Q
| Domain | Start | End | E-Value | Type |
|---|
|
MamL-1
|
14 |
73 |
1.04e-32 |
SMART |
|
low complexity region
|
77 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
588 |
600 |
N/A |
INTRINSIC |
|
coiled coil region
|
627 |
671 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135868
|
| SMART Domains |
Protein: ENSMUSP00000118188
Gene: ENSMUSG00000050567
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
515 |
N/A |
INTRINSIC |
|
coiled coil region
|
541 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222498
|
| Meta Mutation Damage Score |
0.1964 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
92% (33/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display postnatal lethality, reduced size, and skeletal muscle degeneration and necrosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adsl |
C |
T |
15: 80,836,417 (GRCm39) |
T58I |
probably damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,226,430 (GRCm39) |
|
probably null |
Het |
| Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
| Bysl |
A |
G |
17: 47,915,251 (GRCm39) |
S166P |
probably benign |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cdc42bpb |
G |
A |
12: 111,260,573 (GRCm39) |
P1702S |
probably benign |
Het |
| Cfap65 |
G |
T |
1: 74,959,701 (GRCm39) |
F816L |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,593,463 (GRCm39) |
Y6C |
probably damaging |
Het |
| Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
| Gmeb2 |
A |
G |
2: 180,895,766 (GRCm39) |
V468A |
possibly damaging |
Het |
| Gucy2g |
A |
G |
19: 55,218,201 (GRCm39) |
S416P |
possibly damaging |
Het |
| Hormad1 |
G |
A |
3: 95,492,509 (GRCm39) |
R362H |
probably benign |
Het |
| Lancl2 |
T |
A |
6: 57,689,977 (GRCm39) |
V61D |
probably benign |
Het |
| Lta4h |
A |
G |
10: 93,306,669 (GRCm39) |
D287G |
probably damaging |
Het |
| Or6c206 |
T |
C |
10: 129,097,646 (GRCm39) |
V272A |
probably benign |
Het |
| Or7a42 |
T |
C |
10: 78,791,129 (GRCm39) |
V30A |
probably benign |
Het |
| Osbpl9 |
G |
T |
4: 109,029,437 (GRCm39) |
|
probably benign |
Het |
| Oser1 |
T |
C |
2: 163,253,375 (GRCm39) |
T45A |
probably benign |
Het |
| Pip4p1 |
A |
G |
14: 51,168,112 (GRCm39) |
S41P |
probably damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
| Prss43 |
T |
A |
9: 110,656,529 (GRCm39) |
V72D |
probably benign |
Het |
| Sdhb |
T |
A |
4: 140,706,379 (GRCm39) |
M272K |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Stx17 |
T |
A |
4: 48,158,870 (GRCm39) |
D83E |
probably damaging |
Het |
| Tas2r138 |
T |
C |
6: 40,589,410 (GRCm39) |
M279V |
possibly damaging |
Het |
| Tsku |
C |
T |
7: 98,002,205 (GRCm39) |
R42H |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,448 (GRCm39) |
I597V |
probably benign |
Het |
| Wnt5b |
T |
C |
6: 119,417,272 (GRCm39) |
N198D |
probably damaging |
Het |
|
| Other mutations in Maml1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00943:Maml1
|
APN |
11 |
50,149,541 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01326:Maml1
|
APN |
11 |
50,156,715 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01469:Maml1
|
APN |
11 |
50,157,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02336:Maml1
|
APN |
11 |
50,148,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02690:Maml1
|
APN |
11 |
50,149,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0674:Maml1
|
UTSW |
11 |
50,148,885 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1497:Maml1
|
UTSW |
11 |
50,156,534 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1641:Maml1
|
UTSW |
11 |
50,157,774 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1888:Maml1
|
UTSW |
11 |
50,157,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1888:Maml1
|
UTSW |
11 |
50,157,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1899:Maml1
|
UTSW |
11 |
50,156,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2496:Maml1
|
UTSW |
11 |
50,149,371 (GRCm39) |
missense |
probably benign |
|
|
R3913:Maml1
|
UTSW |
11 |
50,154,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4018:Maml1
|
UTSW |
11 |
50,156,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4091:Maml1
|
UTSW |
11 |
50,182,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4205:Maml1
|
UTSW |
11 |
50,148,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Maml1
|
UTSW |
11 |
50,148,694 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4816:Maml1
|
UTSW |
11 |
50,149,162 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5338:Maml1
|
UTSW |
11 |
50,157,778 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5460:Maml1
|
UTSW |
11 |
50,157,180 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6701:Maml1
|
UTSW |
11 |
50,157,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7336:Maml1
|
UTSW |
11 |
50,157,276 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8736:Maml1
|
UTSW |
11 |
50,148,726 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8987:Maml1
|
UTSW |
11 |
50,157,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAATGGACCATCAGAGACTG -3'
(R):5'- TGCCTGGCTTAAGTCCTTCG -3'
Sequencing Primer
(F):5'- CATCAGAGACTGACCAGAGCTG -3'
(R):5'- TTAAGTCCTTCGGGGCCC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation