Incidental Mutation 'IGL02220:Maml3'
| ID |
285106 |
| 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 # |
IGL02220
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
51595032-52012740 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51597639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 369
(V369A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000118075
AA Change: V369A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113677
Gene: ENSMUSG00000061143
AA Change: V369A
| 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 |
possibly damaging
Transcript: ENSMUST00000121440
AA Change: V1015A
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112637
Gene: ENSMUSG00000061143
AA Change: V1015A
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,310,395 (GRCm39) |
D460G |
probably damaging |
Het |
| Ankrd9 |
T |
C |
12: 110,943,933 (GRCm39) |
M1V |
probably null |
Het |
| Anks1 |
T |
C |
17: 28,273,681 (GRCm39) |
I977T |
probably damaging |
Het |
| Bcar1 |
T |
C |
8: 112,437,839 (GRCm39) |
D767G |
possibly damaging |
Het |
| Bcl6 |
A |
T |
16: 23,793,641 (GRCm39) |
I102N |
probably damaging |
Het |
| Cacna2d2 |
G |
A |
9: 107,392,078 (GRCm39) |
G473D |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,140,903 (GRCm39) |
H3148Q |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,940,141 (GRCm39) |
V1263A |
possibly damaging |
Het |
| Crtc2 |
T |
C |
3: 90,166,455 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
G |
A |
13: 25,067,738 (GRCm39) |
G825S |
possibly damaging |
Het |
| Dera |
T |
A |
6: 137,757,815 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
G |
T |
11: 117,963,793 (GRCm39) |
Y2506* |
probably null |
Het |
| Enam |
T |
A |
5: 88,652,418 (GRCm39) |
L1309* |
probably null |
Het |
| Fbxo15 |
G |
A |
18: 84,982,317 (GRCm39) |
|
probably null |
Het |
| Fgfbp1 |
T |
C |
5: 44,136,828 (GRCm39) |
K155E |
probably damaging |
Het |
| Foxj2 |
C |
T |
6: 122,815,540 (GRCm39) |
|
probably benign |
Het |
| Fuca1 |
A |
G |
4: 135,666,530 (GRCm39) |
|
probably benign |
Het |
| Gad1-ps |
T |
A |
10: 99,281,184 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Eb2 |
C |
T |
17: 34,544,661 (GRCm39) |
|
probably benign |
Het |
| Insr |
A |
T |
8: 3,209,578 (GRCm39) |
F1168L |
probably damaging |
Het |
| Isx |
T |
A |
8: 75,619,333 (GRCm39) |
V175E |
possibly damaging |
Het |
| Kansl3 |
T |
C |
1: 36,407,070 (GRCm39) |
|
probably benign |
Het |
| Lin9 |
T |
C |
1: 180,494,932 (GRCm39) |
I218T |
probably damaging |
Het |
| Llgl2 |
C |
A |
11: 115,736,205 (GRCm39) |
A126D |
possibly damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,876,083 (GRCm39) |
E488G |
possibly damaging |
Het |
| Mthfsl |
A |
G |
9: 88,597,708 (GRCm39) |
I14T |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,119,923 (GRCm39) |
|
probably benign |
Het |
| Nfkbil1 |
T |
C |
17: 35,439,722 (GRCm39) |
R264G |
possibly damaging |
Het |
| Or4c3d |
A |
G |
2: 89,882,038 (GRCm39) |
L210P |
probably damaging |
Het |
| Pde5a |
G |
T |
3: 122,542,031 (GRCm39) |
A174S |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,606,382 (GRCm39) |
I1173N |
probably damaging |
Het |
| Ppfia1 |
C |
A |
7: 144,035,512 (GRCm39) |
R1171L |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,172,131 (GRCm39) |
D595G |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,042,742 (GRCm39) |
|
probably benign |
Het |
| Samsn1 |
A |
G |
16: 75,680,763 (GRCm39) |
|
probably null |
Het |
| Sbno2 |
T |
A |
10: 79,908,202 (GRCm39) |
T66S |
probably benign |
Het |
| Serpina1c |
T |
A |
12: 103,862,338 (GRCm39) |
I326F |
probably damaging |
Het |
| Slc12a1 |
T |
C |
2: 125,030,190 (GRCm39) |
|
probably null |
Het |
| Slc18a2 |
A |
G |
19: 59,264,988 (GRCm39) |
E324G |
probably benign |
Het |
| Slc40a1 |
A |
T |
1: 45,950,495 (GRCm39) |
M319K |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,956,608 (GRCm39) |
Y287H |
possibly damaging |
Het |
| Stx4a |
A |
G |
7: 127,441,672 (GRCm39) |
E63G |
possibly damaging |
Het |
| Sv2a |
T |
C |
3: 96,098,032 (GRCm39) |
F545S |
probably benign |
Het |
| Svop |
T |
C |
5: 114,203,589 (GRCm39) |
D65G |
probably benign |
Het |
| Tex30 |
A |
T |
1: 44,126,182 (GRCm39) |
S182R |
probably benign |
Het |
| Tmem121b |
T |
C |
6: 120,469,298 (GRCm39) |
D473G |
probably damaging |
Het |
| Tnfrsf19 |
C |
A |
14: 61,210,941 (GRCm39) |
|
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,769,679 (GRCm39) |
S490P |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,115,746 (GRCm39) |
T82A |
probably benign |
Het |
| Vps16 |
A |
G |
2: 130,283,573 (GRCm39) |
D589G |
possibly damaging |
Het |
| Zscan29 |
A |
C |
2: 120,997,170 (GRCm39) |
S184A |
probably damaging |
Het |
|
| Other mutations in Maml3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Maml3
|
APN |
3 |
51,598,125 (GRCm39) |
missense |
probably benign |
0.13 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation