Incidental Mutation 'IGL00234:Maml3'
ID |
2473 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Maml3
|
Ensembl Gene |
ENSMUSG00000061143 |
Gene Name |
mastermind like transcriptional coactivator 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00234
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
51595032-52012740 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51598125 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 207
(I207T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118075]
[ENSMUST00000121440]
|
AlphaFold |
D4QGC2 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000099104
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118075
AA Change: I207T
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000113677 Gene: ENSMUSG00000061143 AA Change: I207T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
52 |
68 |
N/A |
INTRINSIC |
coiled coil region
|
90 |
132 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121440
AA Change: I853T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000112637 Gene: ENSMUSG00000061143 AA Change: I853T
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
11 |
N/A |
INTRINSIC |
low complexity region
|
12 |
32 |
N/A |
INTRINSIC |
low complexity region
|
44 |
65 |
N/A |
INTRINSIC |
MamL-1
|
67 |
126 |
6.54e-30 |
SMART |
low complexity region
|
436 |
454 |
N/A |
INTRINSIC |
coiled coil region
|
459 |
502 |
N/A |
INTRINSIC |
low complexity region
|
504 |
515 |
N/A |
INTRINSIC |
low complexity region
|
621 |
647 |
N/A |
INTRINSIC |
low complexity region
|
698 |
714 |
N/A |
INTRINSIC |
coiled coil region
|
736 |
778 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193403
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no gross abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angptl4 |
T |
C |
17: 34,000,242 (GRCm39) |
N42S |
probably damaging |
Het |
Apoc4 |
A |
T |
7: 19,412,665 (GRCm39) |
S27T |
probably benign |
Het |
Atp13a3 |
T |
A |
16: 30,170,097 (GRCm39) |
Q363L |
probably damaging |
Het |
Cfap69 |
A |
G |
5: 5,667,295 (GRCm39) |
Y417H |
probably benign |
Het |
Cry1 |
A |
G |
10: 84,982,698 (GRCm39) |
S243P |
probably benign |
Het |
Epb41l2 |
A |
G |
10: 25,377,734 (GRCm39) |
T116A |
probably damaging |
Het |
Foxb1 |
A |
G |
9: 69,667,480 (GRCm39) |
S17P |
probably damaging |
Het |
Glb1l3 |
A |
T |
9: 26,764,967 (GRCm39) |
L148H |
probably damaging |
Het |
Hnrnpk |
T |
C |
13: 58,543,111 (GRCm39) |
|
probably benign |
Het |
Icam5 |
G |
A |
9: 20,948,091 (GRCm39) |
|
probably null |
Het |
Lats1 |
A |
G |
10: 7,567,330 (GRCm39) |
I34V |
probably damaging |
Het |
Lipc |
A |
T |
9: 70,727,719 (GRCm39) |
Y43N |
possibly damaging |
Het |
Nfatc2 |
A |
T |
2: 168,346,810 (GRCm39) |
S761R |
probably damaging |
Het |
Nubp1 |
G |
A |
16: 10,240,703 (GRCm39) |
G280S |
probably damaging |
Het |
Or4d2 |
T |
G |
11: 87,784,191 (GRCm39) |
R186S |
possibly damaging |
Het |
Pabpc4 |
A |
G |
4: 123,180,497 (GRCm39) |
N73S |
probably damaging |
Het |
Pcsk6 |
G |
A |
7: 65,577,568 (GRCm39) |
C163Y |
probably damaging |
Het |
Phf3 |
G |
A |
1: 30,850,928 (GRCm39) |
T1142M |
probably damaging |
Het |
Prune2 |
T |
A |
19: 17,145,708 (GRCm39) |
|
probably null |
Het |
Psmd7 |
A |
G |
8: 108,312,342 (GRCm39) |
V85A |
probably damaging |
Het |
Rc3h2 |
A |
G |
2: 37,279,759 (GRCm39) |
V490A |
possibly damaging |
Het |
Sh3tc1 |
A |
C |
5: 35,868,301 (GRCm39) |
S388A |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,221,677 (GRCm39) |
F2805L |
probably damaging |
Het |
Yars2 |
T |
C |
16: 16,121,185 (GRCm39) |
L113P |
probably damaging |
Het |
Zfp82 |
G |
A |
7: 29,765,755 (GRCm39) |
S16L |
probably damaging |
Het |
|
Other mutations in Maml3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01138:Maml3
|
APN |
3 |
51,597,979 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02173:Maml3
|
APN |
3 |
51,598,208 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02220:Maml3
|
APN |
3 |
51,597,639 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02725:Maml3
|
APN |
3 |
52,011,195 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02838:Maml3
|
APN |
3 |
51,597,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R0683:Maml3
|
UTSW |
3 |
51,764,173 (GRCm39) |
nonsense |
probably null |
|
R1966:Maml3
|
UTSW |
3 |
52,011,560 (GRCm39) |
missense |
unknown |
|
R1980:Maml3
|
UTSW |
3 |
52,011,473 (GRCm39) |
missense |
unknown |
|
R1989:Maml3
|
UTSW |
3 |
51,605,179 (GRCm39) |
missense |
probably damaging |
0.98 |
R1992:Maml3
|
UTSW |
3 |
51,598,178 (GRCm39) |
missense |
probably benign |
0.01 |
R2047:Maml3
|
UTSW |
3 |
51,597,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R2113:Maml3
|
UTSW |
3 |
51,598,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R2876:Maml3
|
UTSW |
3 |
51,597,480 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3176:Maml3
|
UTSW |
3 |
51,764,351 (GRCm39) |
missense |
possibly damaging |
0.62 |
R3276:Maml3
|
UTSW |
3 |
51,764,351 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4191:Maml3
|
UTSW |
3 |
51,597,390 (GRCm39) |
missense |
probably benign |
|
R4576:Maml3
|
UTSW |
3 |
51,763,927 (GRCm39) |
nonsense |
probably null |
|
R4609:Maml3
|
UTSW |
3 |
51,763,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R4628:Maml3
|
UTSW |
3 |
51,703,891 (GRCm39) |
intron |
probably benign |
|
R4734:Maml3
|
UTSW |
3 |
51,597,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R4776:Maml3
|
UTSW |
3 |
51,763,953 (GRCm39) |
missense |
probably benign |
0.28 |
R4868:Maml3
|
UTSW |
3 |
52,011,345 (GRCm39) |
nonsense |
probably null |
|
R4889:Maml3
|
UTSW |
3 |
51,601,931 (GRCm39) |
intron |
probably benign |
|
R4891:Maml3
|
UTSW |
3 |
51,601,931 (GRCm39) |
intron |
probably benign |
|
R4947:Maml3
|
UTSW |
3 |
51,763,960 (GRCm39) |
missense |
probably benign |
0.01 |
R5011:Maml3
|
UTSW |
3 |
51,598,196 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5047:Maml3
|
UTSW |
3 |
51,598,262 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5344:Maml3
|
UTSW |
3 |
52,011,146 (GRCm39) |
missense |
probably damaging |
0.99 |
R5743:Maml3
|
UTSW |
3 |
52,011,553 (GRCm39) |
missense |
unknown |
|
R6724:Maml3
|
UTSW |
3 |
51,763,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R6885:Maml3
|
UTSW |
3 |
51,605,000 (GRCm39) |
|
|
|
R6938:Maml3
|
UTSW |
3 |
52,011,159 (GRCm39) |
missense |
probably damaging |
0.98 |
R7581:Maml3
|
UTSW |
3 |
51,764,189 (GRCm39) |
missense |
probably benign |
0.06 |
R7895:Maml3
|
UTSW |
3 |
51,605,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R8059:Maml3
|
UTSW |
3 |
51,764,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R8404:Maml3
|
UTSW |
3 |
51,598,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R8551:Maml3
|
UTSW |
3 |
51,764,488 (GRCm39) |
missense |
probably benign |
0.14 |
R8987:Maml3
|
UTSW |
3 |
51,597,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R9291:Maml3
|
UTSW |
3 |
51,764,328 (GRCm39) |
missense |
probably benign |
0.27 |
R9548:Maml3
|
UTSW |
3 |
51,763,791 (GRCm39) |
missense |
possibly damaging |
0.81 |
RF022:Maml3
|
UTSW |
3 |
51,764,083 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1192:Maml3
|
UTSW |
3 |
51,763,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2011-12-09 |