Incidental Mutation 'R4205:Maml1'
| ID |
318877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Maml1
|
| Ensembl Gene |
ENSMUSG00000050567 |
| Gene Name |
mastermind like transcriptional coactivator 1 |
| Synonyms |
Mam-1, D930008C07Rik |
| MMRRC Submission |
041034-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4205 (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: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
100% (40/40) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
G |
T |
7: 143,422,964 (GRCm39) |
V17L |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,260,667 (GRCm39) |
I294T |
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,438,282 (GRCm39) |
T1037M |
possibly damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,766 (GRCm39) |
T506A |
possibly damaging |
Het |
| Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cdhr1 |
G |
T |
14: 36,802,461 (GRCm39) |
F667L |
probably benign |
Het |
| Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
| Dmrtc2 |
C |
T |
7: 24,575,231 (GRCm39) |
Q275* |
probably null |
Het |
| Dsg1b |
A |
T |
18: 20,541,878 (GRCm39) |
D795V |
probably damaging |
Het |
| Elavl1 |
A |
G |
8: 4,339,851 (GRCm39) |
W244R |
probably damaging |
Het |
| Emilin1 |
T |
C |
5: 31,077,243 (GRCm39) |
|
probably benign |
Het |
| Fam20c |
T |
G |
5: 138,741,431 (GRCm39) |
L14R |
probably damaging |
Het |
| Glt1d1 |
G |
T |
5: 127,766,935 (GRCm39) |
R217L |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,344,358 (GRCm39) |
R223H |
probably benign |
Het |
| Lrrc26 |
G |
T |
2: 25,180,170 (GRCm39) |
C57F |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,464,449 (GRCm39) |
Y125C |
probably damaging |
Het |
| Mapk1 |
T |
C |
16: 16,856,321 (GRCm39) |
|
probably benign |
Het |
| Mocos |
G |
A |
18: 24,799,248 (GRCm39) |
V161M |
possibly damaging |
Het |
| Or4c108 |
A |
G |
2: 88,803,482 (GRCm39) |
V251A |
probably benign |
Het |
| Pcdhgb5 |
A |
G |
18: 37,865,716 (GRCm39) |
N504D |
possibly damaging |
Het |
| Pcx |
G |
A |
19: 4,669,194 (GRCm39) |
V731M |
possibly damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
| Ptprh |
C |
A |
7: 4,600,991 (GRCm39) |
G129W |
probably damaging |
Het |
| Rasal1 |
T |
C |
5: 120,797,628 (GRCm39) |
V120A |
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Rtn4rl1 |
A |
T |
11: 75,156,809 (GRCm39) |
I414F |
probably damaging |
Het |
| Rtn4rl1 |
C |
A |
11: 75,156,818 (GRCm39) |
P417T |
probably damaging |
Het |
| Shank3 |
T |
C |
15: 89,387,521 (GRCm39) |
L230P |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Taar9 |
C |
T |
10: 23,984,477 (GRCm39) |
R319H |
possibly damaging |
Het |
| Tbck |
T |
A |
3: 132,543,789 (GRCm39) |
I880N |
probably benign |
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 |
| Zc3h13 |
A |
G |
14: 75,565,041 (GRCm39) |
D718G |
unknown |
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 |
|
R4202: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'- TGGACCATCAGAGACTGACC -3'
(R):5'- TGCCTGGCTTAAGTCCTTCG -3'
Sequencing Primer
(F):5'- CATCAGAGACTGACCAGAGCTG -3'
(R):5'- TTAAGTCCTTCGGGGCCC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation