Incidental Mutation 'R4018:Maml1'
| ID |
312023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Maml1
|
| Ensembl Gene |
ENSMUSG00000050567 |
| Gene Name |
mastermind like transcriptional coactivator 1 |
| Synonyms |
Mam-1, D930008C07Rik |
| MMRRC Submission |
040848-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4018 (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 50156611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 521
(N521K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059458]
|
| AlphaFold |
Q6T264 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059458
AA Change: N521K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059210
Gene: ENSMUSG00000050567
AA Change: N521K
| 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 |
unknown
Transcript: ENSMUST00000135868
AA Change: N435K
|
| SMART Domains |
Protein: ENSMUSP00000118188
Gene: ENSMUSG00000050567
AA Change: N435K
| 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 |
0.2489 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (33/33) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aga |
A |
G |
8: 53,976,226 (GRCm39) |
K319R |
probably benign |
Het |
| Brip1 |
G |
T |
11: 86,029,677 (GRCm39) |
T619K |
possibly damaging |
Het |
| Cd300ld2 |
G |
T |
11: 114,903,330 (GRCm39) |
|
probably benign |
Het |
| Cd300lg |
A |
G |
11: 101,932,420 (GRCm39) |
R2G |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,302,281 (GRCm39) |
V2616I |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,460,517 (GRCm39) |
I1160V |
probably benign |
Het |
| Edem3 |
C |
T |
1: 151,680,577 (GRCm39) |
|
probably benign |
Het |
| Endou |
T |
A |
15: 97,616,818 (GRCm39) |
K235M |
probably damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,995 (GRCm39) |
N309I |
probably damaging |
Het |
| Il4 |
T |
A |
11: 53,504,806 (GRCm39) |
|
probably benign |
Het |
| Iws1 |
C |
A |
18: 32,203,205 (GRCm39) |
S27* |
probably null |
Het |
| Kdm5d |
T |
C |
Y: 910,441 (GRCm39) |
|
probably benign |
Het |
| Ldb3 |
T |
C |
14: 34,274,128 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,738,438 (GRCm39) |
T284A |
probably benign |
Het |
| Mlxipl |
T |
C |
5: 135,161,526 (GRCm39) |
Y482H |
probably damaging |
Het |
| Notch2 |
G |
T |
3: 98,011,881 (GRCm39) |
C633F |
probably damaging |
Het |
| Oc90 |
T |
C |
15: 65,759,457 (GRCm39) |
D232G |
probably benign |
Het |
| Or5b101 |
T |
C |
19: 13,005,189 (GRCm39) |
E168G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,625,885 (GRCm39) |
Y1717C |
unknown |
Het |
| Prkca |
T |
A |
11: 107,830,428 (GRCm39) |
I221F |
probably damaging |
Het |
| Rab3c |
T |
A |
13: 110,220,728 (GRCm39) |
K144N |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,933,300 (GRCm39) |
N57I |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,764,068 (GRCm39) |
T145A |
possibly damaging |
Het |
| Septin4 |
G |
A |
11: 87,475,947 (GRCm39) |
R162Q |
probably damaging |
Het |
| Slc25a39 |
A |
T |
11: 102,295,850 (GRCm39) |
L127H |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 94,567,216 (GRCm39) |
V95A |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,844,255 (GRCm39) |
I279V |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,893 (GRCm39) |
I314V |
probably benign |
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 |
|
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 |
|
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'- CAAGTGAAGGGCCTACTCAC -3'
(R):5'- CCTTATCCCATGGAGAAGCC -3'
Sequencing Primer
(F):5'- CCAGGTGGAACCAATGACCG -3'
(R):5'- ATGGAGAAGCCTGCCAGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation