Incidental Mutation 'IGL02711:Maml2'
| ID |
304572 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Maml2
|
| Ensembl Gene |
ENSMUSG00000031925 |
| Gene Name |
mastermind like transcriptional coactivator 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02711
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
13298306-13620684 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13531359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 191
(V191A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034401]
[ENSMUST00000159294]
|
| AlphaFold |
F6U238 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034401
|
| SMART Domains |
Protein: ENSMUSP00000034401
Gene: ENSMUSG00000031925
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
163 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159294
AA Change: V191A
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: V191A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
227 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
331 |
N/A |
INTRINSIC |
|
SCOP:d1lsha3
|
385 |
459 |
5e-3 |
SMART |
|
low complexity region
|
523 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
753 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175351
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,773,245 (GRCm39) |
|
probably null |
Het |
| Adamts10 |
T |
A |
17: 33,757,246 (GRCm39) |
M400K |
probably damaging |
Het |
| Adamts17 |
G |
A |
7: 66,701,788 (GRCm39) |
|
probably benign |
Het |
| Adh5 |
A |
G |
3: 138,160,434 (GRCm39) |
K323E |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,118,255 (GRCm39) |
W10R |
probably benign |
Het |
| Arhgap15 |
T |
C |
2: 44,006,674 (GRCm39) |
F264L |
possibly damaging |
Het |
| Atp6v1g3 |
T |
A |
1: 138,211,419 (GRCm39) |
L33Q |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,747,849 (GRCm39) |
|
probably benign |
Het |
| Capn11 |
A |
G |
17: 45,943,341 (GRCm39) |
F611S |
probably damaging |
Het |
| Cep152 |
T |
A |
2: 125,405,862 (GRCm39) |
T1557S |
possibly damaging |
Het |
| Cep76 |
A |
T |
18: 67,771,406 (GRCm39) |
S75R |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,251,676 (GRCm39) |
|
probably benign |
Het |
| Dbf4 |
G |
T |
5: 8,458,235 (GRCm39) |
A199E |
probably benign |
Het |
| Gldc |
C |
T |
19: 30,122,546 (GRCm39) |
|
probably null |
Het |
| Hspa14 |
G |
A |
2: 3,503,557 (GRCm39) |
A117V |
probably benign |
Het |
| Igkv4-80 |
G |
A |
6: 68,993,801 (GRCm39) |
P30L |
probably damaging |
Het |
| Itga2b |
A |
T |
11: 102,356,551 (GRCm39) |
W292R |
possibly damaging |
Het |
| Kansl1 |
A |
T |
11: 104,226,401 (GRCm39) |
S982T |
probably damaging |
Het |
| Klhdc7b |
A |
T |
15: 89,272,246 (GRCm39) |
K1043* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,735,820 (GRCm39) |
|
probably benign |
Het |
| Krt86 |
T |
C |
15: 101,371,543 (GRCm39) |
Y38H |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,310,700 (GRCm39) |
I546T |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,980,515 (GRCm39) |
S222P |
probably damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,570,025 (GRCm39) |
V178A |
possibly damaging |
Het |
| Msh3 |
T |
C |
13: 92,487,819 (GRCm39) |
T133A |
probably damaging |
Het |
| Nck1 |
T |
C |
9: 100,390,673 (GRCm39) |
D12G |
probably damaging |
Het |
| Nox4 |
T |
C |
7: 87,046,076 (GRCm39) |
Y572H |
probably damaging |
Het |
| Nqo1 |
A |
T |
8: 108,119,563 (GRCm39) |
L30Q |
probably damaging |
Het |
| Or5ak24 |
A |
T |
2: 85,261,083 (GRCm39) |
V30E |
probably damaging |
Het |
| Oxr1 |
A |
G |
15: 41,517,067 (GRCm39) |
|
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,377 (GRCm39) |
D1100G |
probably benign |
Het |
| Pcdhb10 |
A |
C |
18: 37,545,779 (GRCm39) |
D285A |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,572,322 (GRCm39) |
N569S |
unknown |
Het |
| Ppfibp1 |
T |
A |
6: 146,927,736 (GRCm39) |
Y794* |
probably null |
Het |
| Ripor3 |
T |
G |
2: 167,848,200 (GRCm39) |
|
probably benign |
Het |
| Rpe65 |
C |
A |
3: 159,328,514 (GRCm39) |
H441N |
possibly damaging |
Het |
| St14 |
A |
G |
9: 31,001,196 (GRCm39) |
V845A |
probably benign |
Het |
| Tmem116 |
T |
A |
5: 121,625,804 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf11b |
A |
T |
15: 54,119,532 (GRCm39) |
D147E |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,560,466 (GRCm39) |
G27566* |
probably null |
Het |
| Zscan18 |
G |
T |
7: 12,509,044 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Maml2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Maml2
|
APN |
9 |
13,532,900 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00424:Maml2
|
APN |
9 |
13,532,208 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03079:Maml2
|
APN |
9 |
13,532,912 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03217:Maml2
|
APN |
9 |
13,531,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Maml2
|
UTSW |
9 |
13,532,755 (GRCm39) |
small deletion |
probably benign |
|
|
FR4449:Maml2
|
UTSW |
9 |
13,532,752 (GRCm39) |
small deletion |
probably benign |
|
|
PIT4810001:Maml2
|
UTSW |
9 |
13,531,320 (GRCm39) |
missense |
|
|
|
R0102:Maml2
|
UTSW |
9 |
13,617,228 (GRCm39) |
synonymous |
silent |
|
|
R0318:Maml2
|
UTSW |
9 |
13,531,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0380:Maml2
|
UTSW |
9 |
13,532,396 (GRCm39) |
nonsense |
probably null |
|
|
R1433:Maml2
|
UTSW |
9 |
13,617,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1449:Maml2
|
UTSW |
9 |
13,531,980 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1789:Maml2
|
UTSW |
9 |
13,608,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Maml2
|
UTSW |
9 |
13,532,912 (GRCm39) |
unclassified |
probably benign |
|
|
R2363:Maml2
|
UTSW |
9 |
13,532,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2426:Maml2
|
UTSW |
9 |
13,617,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2880:Maml2
|
UTSW |
9 |
13,531,893 (GRCm39) |
splice site |
probably null |
|
|
R3981:Maml2
|
UTSW |
9 |
13,532,364 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4094:Maml2
|
UTSW |
9 |
13,531,449 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4117:Maml2
|
UTSW |
9 |
13,617,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4282:Maml2
|
UTSW |
9 |
13,531,406 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4618:Maml2
|
UTSW |
9 |
13,531,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Maml2
|
UTSW |
9 |
13,532,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Maml2
|
UTSW |
9 |
13,531,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5195:Maml2
|
UTSW |
9 |
13,532,410 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5428:Maml2
|
UTSW |
9 |
13,617,191 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5448:Maml2
|
UTSW |
9 |
13,617,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5450:Maml2
|
UTSW |
9 |
13,617,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5455:Maml2
|
UTSW |
9 |
13,617,039 (GRCm39) |
nonsense |
probably null |
|
|
R5620:Maml2
|
UTSW |
9 |
13,608,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Maml2
|
UTSW |
9 |
13,532,915 (GRCm39) |
unclassified |
probably benign |
|
|
R6009:Maml2
|
UTSW |
9 |
13,532,294 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6054:Maml2
|
UTSW |
9 |
13,532,695 (GRCm39) |
small deletion |
probably benign |
|
|
R6257:Maml2
|
UTSW |
9 |
13,531,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6727:Maml2
|
UTSW |
9 |
13,532,847 (GRCm39) |
unclassified |
probably benign |
|
|
R6824:Maml2
|
UTSW |
9 |
13,608,513 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6854:Maml2
|
UTSW |
9 |
13,617,131 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6998:Maml2
|
UTSW |
9 |
13,532,481 (GRCm39) |
unclassified |
probably benign |
|
|
R7047:Maml2
|
UTSW |
9 |
13,532,177 (GRCm39) |
unclassified |
probably benign |
|
|
R7233:Maml2
|
UTSW |
9 |
13,532,067 (GRCm39) |
missense |
|
|
|
R7326:Maml2
|
UTSW |
9 |
13,532,903 (GRCm39) |
missense |
|
|
|
R7612:Maml2
|
UTSW |
9 |
13,617,781 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7652:Maml2
|
UTSW |
9 |
13,532,945 (GRCm39) |
missense |
|
|
|
R7699:Maml2
|
UTSW |
9 |
13,532,385 (GRCm39) |
missense |
|
|
|
R7700:Maml2
|
UTSW |
9 |
13,532,385 (GRCm39) |
missense |
|
|
|
R7803:Maml2
|
UTSW |
9 |
13,532,572 (GRCm39) |
small insertion |
probably benign |
|
|
R7803:Maml2
|
UTSW |
9 |
13,532,571 (GRCm39) |
small insertion |
probably benign |
|
|
R7803:Maml2
|
UTSW |
9 |
13,532,550 (GRCm39) |
small insertion |
probably benign |
|
|
R8425:Maml2
|
UTSW |
9 |
13,531,413 (GRCm39) |
missense |
|
|
|
R8810:Maml2
|
UTSW |
9 |
13,532,918 (GRCm39) |
missense |
|
|
|
R9277:Maml2
|
UTSW |
9 |
13,531,872 (GRCm39) |
missense |
|
|
|
R9359:Maml2
|
UTSW |
9 |
13,532,969 (GRCm39) |
nonsense |
probably null |
|
|
R9403:Maml2
|
UTSW |
9 |
13,532,969 (GRCm39) |
nonsense |
probably null |
|
|
RF015:Maml2
|
UTSW |
9 |
13,532,752 (GRCm39) |
small deletion |
probably benign |
|
|
RF044:Maml2
|
UTSW |
9 |
13,532,752 (GRCm39) |
small deletion |
probably benign |
|
|
X0063:Maml2
|
UTSW |
9 |
13,531,637 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1177:Maml2
|
UTSW |
9 |
13,617,886 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation