Incidental Mutation 'IGL01469:Maml1'
ID |
88220 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Maml1
|
Ensembl Gene |
ENSMUSG00000050567 |
Gene Name |
mastermind like transcriptional coactivator 1 |
Synonyms |
Mam-1, D930008C07Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01469
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
50146461-50183138 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 50157353 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 274
(M274T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059210
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059458]
|
AlphaFold |
Q6T264 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059458
AA Change: M274T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000059210 Gene: ENSMUSG00000050567 AA Change: M274T
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: M188T
|
SMART Domains |
Protein: ENSMUSP00000118188 Gene: ENSMUSG00000050567 AA Change: M188T
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm1 |
A |
G |
4: 144,255,192 (GRCm39) |
Q204R |
possibly damaging |
Het |
Actn2 |
C |
T |
13: 12,325,796 (GRCm39) |
E60K |
possibly damaging |
Het |
Alpk1 |
T |
C |
3: 127,471,401 (GRCm39) |
|
probably null |
Het |
Ccdc107 |
A |
G |
4: 43,495,751 (GRCm39) |
N218S |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,433,504 (GRCm39) |
M60K |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,934,567 (GRCm39) |
Q378R |
probably damaging |
Het |
Dnaaf6rt |
A |
T |
1: 31,262,510 (GRCm39) |
D164V |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,902,688 (GRCm39) |
|
probably benign |
Het |
Eif2b4 |
T |
C |
5: 31,345,111 (GRCm39) |
D190G |
probably benign |
Het |
Fmo5 |
A |
G |
3: 97,558,884 (GRCm39) |
N448S |
probably benign |
Het |
Gal3st2c |
A |
G |
1: 93,937,039 (GRCm39) |
N328S |
probably benign |
Het |
Gbf1 |
A |
T |
19: 46,267,803 (GRCm39) |
E1271V |
probably damaging |
Het |
Ifitm6 |
A |
T |
7: 140,596,725 (GRCm39) |
V16D |
probably damaging |
Het |
Ighv2-4 |
A |
G |
12: 113,616,966 (GRCm39) |
|
probably null |
Het |
Kng2 |
T |
A |
16: 22,818,577 (GRCm39) |
K305I |
probably damaging |
Het |
Lrp1 |
C |
T |
10: 127,420,283 (GRCm39) |
R900Q |
probably damaging |
Het |
Med23 |
A |
G |
10: 24,758,495 (GRCm39) |
E278G |
probably damaging |
Het |
Myo1h |
A |
G |
5: 114,499,330 (GRCm39) |
T164A |
probably damaging |
Het |
Ncoa2 |
A |
T |
1: 13,257,093 (GRCm39) |
S135R |
probably benign |
Het |
Nrbf2 |
A |
G |
10: 67,105,919 (GRCm39) |
L41P |
probably damaging |
Het |
Or10a48 |
A |
G |
7: 108,424,534 (GRCm39) |
V224A |
probably benign |
Het |
Or1j13 |
T |
C |
2: 36,369,836 (GRCm39) |
Y102C |
probably benign |
Het |
Or1o11 |
T |
A |
17: 37,756,426 (GRCm39) |
S5T |
probably benign |
Het |
Or52e5 |
T |
A |
7: 104,719,595 (GRCm39) |
M307K |
probably benign |
Het |
Or6c6 |
A |
G |
10: 129,186,449 (GRCm39) |
M6V |
probably benign |
Het |
Otoa |
T |
C |
7: 120,754,496 (GRCm39) |
|
probably null |
Het |
Plxnb1 |
T |
C |
9: 108,934,483 (GRCm39) |
|
probably benign |
Het |
Ppp1r42 |
A |
T |
1: 10,073,458 (GRCm39) |
|
probably null |
Het |
Rad54l2 |
T |
A |
9: 106,599,957 (GRCm39) |
K100M |
probably damaging |
Het |
Rnf112 |
T |
A |
11: 61,342,167 (GRCm39) |
T308S |
possibly damaging |
Het |
Scaper |
T |
C |
9: 55,767,051 (GRCm39) |
D466G |
probably damaging |
Het |
Sgsm2 |
T |
A |
11: 74,744,697 (GRCm39) |
I796L |
possibly damaging |
Het |
Shank3 |
T |
C |
15: 89,405,477 (GRCm39) |
L476P |
probably damaging |
Het |
Shkbp1 |
T |
C |
7: 27,055,366 (GRCm39) |
T6A |
probably benign |
Het |
Slc14a2 |
A |
T |
18: 78,198,781 (GRCm39) |
I783N |
probably damaging |
Het |
Stat1 |
A |
G |
1: 52,186,529 (GRCm39) |
D447G |
possibly damaging |
Het |
Tekt3 |
T |
G |
11: 62,964,294 (GRCm39) |
I208S |
probably damaging |
Het |
Tenm3 |
A |
T |
8: 48,689,458 (GRCm39) |
V2043E |
probably damaging |
Het |
Tgm3 |
T |
C |
2: 129,866,414 (GRCm39) |
Y111H |
probably damaging |
Het |
Tph2 |
T |
A |
10: 114,915,664 (GRCm39) |
R459* |
probably null |
Het |
Vmn2r109 |
T |
C |
17: 20,761,671 (GRCm39) |
Y562C |
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 |
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 |
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 |
|
Posted On |
2013-11-18 |