Incidental Mutation 'IGL02838:Maml3'
ID |
361736 |
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 # |
IGL02838
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
51595032-52012740 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51597511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 412
(F412L)
|
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 damaging
Transcript: ENSMUST00000118075
AA Change: F412L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113677 Gene: ENSMUSG00000061143 AA Change: F412L
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 damaging
Transcript: ENSMUST00000121440
AA Change: F1058L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112637 Gene: ENSMUSG00000061143 AA Change: F1058L
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl4a |
T |
C |
12: 40,086,303 (GRCm39) |
E148G |
probably benign |
Het |
AW551984 |
A |
T |
9: 39,505,939 (GRCm39) |
F419L |
probably damaging |
Het |
Brpf3 |
G |
A |
17: 29,054,758 (GRCm39) |
R1100Q |
probably benign |
Het |
Cacna1e |
A |
G |
1: 154,321,394 (GRCm39) |
C1222R |
probably damaging |
Het |
Cacna2d3 |
T |
A |
14: 29,022,785 (GRCm39) |
|
probably null |
Het |
Ccdc146 |
T |
A |
5: 21,502,567 (GRCm39) |
M775L |
probably benign |
Het |
Ccdc60 |
A |
G |
5: 116,272,169 (GRCm39) |
S422P |
probably damaging |
Het |
Cdh10 |
A |
T |
15: 18,899,849 (GRCm39) |
N59Y |
probably damaging |
Het |
Cfap61 |
T |
A |
2: 145,789,084 (GRCm39) |
C29* |
probably null |
Het |
Fgd5 |
T |
A |
6: 91,964,655 (GRCm39) |
M138K |
probably benign |
Het |
Gpr107 |
G |
A |
2: 31,104,329 (GRCm39) |
G545S |
probably benign |
Het |
Greb1l |
G |
A |
18: 10,560,430 (GRCm39) |
A1897T |
probably damaging |
Het |
Hcls1 |
A |
G |
16: 36,782,781 (GRCm39) |
D439G |
probably damaging |
Het |
Iars1 |
T |
A |
13: 49,843,965 (GRCm39) |
N146K |
possibly damaging |
Het |
Itga5 |
C |
T |
15: 103,260,036 (GRCm39) |
A619T |
probably damaging |
Het |
Mis18bp1 |
T |
C |
12: 65,183,600 (GRCm39) |
Y924C |
probably damaging |
Het |
Mtss1 |
T |
C |
15: 58,953,364 (GRCm39) |
I5V |
probably benign |
Het |
Ninl |
A |
T |
2: 150,797,631 (GRCm39) |
|
probably null |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Nts |
C |
T |
10: 102,318,290 (GRCm39) |
V138M |
probably damaging |
Het |
Or4q3 |
A |
G |
14: 50,583,312 (GRCm39) |
S165P |
probably damaging |
Het |
Or5b116 |
T |
A |
19: 13,423,299 (GRCm39) |
S308T |
probably benign |
Het |
Pard3 |
A |
G |
8: 128,153,128 (GRCm39) |
R900G |
probably damaging |
Het |
Rbfa |
T |
C |
18: 80,236,050 (GRCm39) |
H233R |
probably benign |
Het |
Rundc3a |
T |
A |
11: 102,288,521 (GRCm39) |
|
probably benign |
Het |
Setdb1 |
G |
T |
3: 95,244,579 (GRCm39) |
|
probably null |
Het |
Synpo |
T |
A |
18: 60,736,872 (GRCm39) |
N358I |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,908,606 (GRCm39) |
T1543S |
possibly damaging |
Het |
Ugt1a8 |
T |
A |
1: 88,016,399 (GRCm39) |
Y271N |
probably benign |
Het |
Vmn2r105 |
A |
C |
17: 20,447,847 (GRCm39) |
F326V |
probably damaging |
Het |
Vps13c |
G |
A |
9: 67,883,133 (GRCm39) |
R3560H |
probably damaging |
Het |
Vps13d |
C |
T |
4: 144,801,595 (GRCm39) |
R3510Q |
probably benign |
Het |
Zcchc8 |
A |
T |
5: 123,857,546 (GRCm39) |
|
probably benign |
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 |
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 |
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 |
2015-12-18 |