Incidental Mutation 'R5428:Maml2'
ID |
427017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Maml2
|
Ensembl Gene |
ENSMUSG00000031925 |
Gene Name |
mastermind like transcriptional coactivator 2 |
Synonyms |
|
MMRRC Submission |
042994-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5428 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
13298306-13620684 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 13617191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 935
(N935S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034401]
[ENSMUST00000159294]
[ENSMUST00000177755]
|
AlphaFold |
F6U238 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034401
AA Change: N179S
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000034401 Gene: ENSMUSG00000031925 AA Change: N179S
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: N935S
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000124083 Gene: ENSMUSG00000031925 AA Change: N935S
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: ENSMUST00000161245
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177755
AA Change: N179S
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000136866 Gene: ENSMUSG00000031925 AA Change: N179S
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
low complexity region
|
144 |
163 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (62/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
G |
C |
18: 6,635,918 (GRCm39) |
V324L |
probably benign |
Het |
Abl2 |
T |
C |
1: 156,469,681 (GRCm39) |
C982R |
probably damaging |
Het |
Adgrl4 |
G |
A |
3: 151,248,323 (GRCm39) |
C665Y |
probably damaging |
Het |
Adra1d |
A |
G |
2: 131,403,323 (GRCm39) |
S256P |
probably damaging |
Het |
Aipl1 |
T |
A |
11: 71,921,313 (GRCm39) |
Y194F |
probably benign |
Het |
Arfgef1 |
C |
A |
1: 10,231,060 (GRCm39) |
D1150Y |
probably damaging |
Het |
Arl14epl |
A |
T |
18: 47,059,387 (GRCm39) |
M1L |
possibly damaging |
Het |
Colgalt1 |
G |
T |
8: 72,075,420 (GRCm39) |
R442L |
probably damaging |
Het |
Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
Dach1 |
A |
G |
14: 98,406,705 (GRCm39) |
V14A |
unknown |
Het |
Defa30 |
A |
G |
8: 21,625,419 (GRCm39) |
D61G |
probably benign |
Het |
Dnaja2 |
A |
T |
8: 86,266,804 (GRCm39) |
C308S |
probably benign |
Het |
Emc4 |
A |
G |
2: 112,197,700 (GRCm39) |
|
probably benign |
Het |
Foxp1 |
A |
G |
6: 98,993,592 (GRCm39) |
V104A |
probably damaging |
Het |
Fry |
T |
G |
5: 150,328,824 (GRCm39) |
L1319R |
possibly damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gja10 |
T |
A |
4: 32,601,169 (GRCm39) |
H405L |
probably benign |
Het |
Gm27047 |
A |
G |
6: 130,607,527 (GRCm39) |
|
noncoding transcript |
Het |
Grm1 |
T |
A |
10: 10,595,307 (GRCm39) |
T774S |
probably damaging |
Het |
Gtse1 |
A |
C |
15: 85,746,340 (GRCm39) |
D52A |
probably benign |
Het |
Kctd17 |
T |
A |
15: 78,312,982 (GRCm39) |
F42Y |
probably damaging |
Het |
Kndc1 |
A |
G |
7: 139,488,878 (GRCm39) |
K178E |
probably damaging |
Het |
Lrrc74b |
T |
C |
16: 17,376,125 (GRCm39) |
E175G |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,278,661 (GRCm39) |
I5927T |
probably damaging |
Het |
Man2a1 |
A |
G |
17: 65,019,295 (GRCm39) |
I720V |
probably benign |
Het |
Map3k5 |
C |
T |
10: 19,899,399 (GRCm39) |
H219Y |
possibly damaging |
Het |
Map4k5 |
T |
C |
12: 69,884,787 (GRCm39) |
T314A |
possibly damaging |
Het |
Mast3 |
A |
G |
8: 71,237,377 (GRCm39) |
V615A |
possibly damaging |
Het |
Mcmbp |
C |
T |
7: 128,306,248 (GRCm39) |
V457I |
probably benign |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Nacc1 |
T |
C |
8: 85,402,783 (GRCm39) |
I337V |
probably damaging |
Het |
Nipbl |
T |
C |
15: 8,359,780 (GRCm39) |
D1475G |
probably benign |
Het |
Orc1 |
T |
A |
4: 108,457,137 (GRCm39) |
D392E |
probably benign |
Het |
Pappa2 |
T |
C |
1: 158,642,355 (GRCm39) |
T1297A |
possibly damaging |
Het |
Plag1 |
C |
T |
4: 3,905,538 (GRCm39) |
V51I |
possibly damaging |
Het |
Ppp1r12a |
G |
A |
10: 108,089,208 (GRCm39) |
E616K |
possibly damaging |
Het |
Ptgs1 |
A |
G |
2: 36,135,280 (GRCm39) |
M415V |
probably benign |
Het |
Ralgapa2 |
C |
T |
2: 146,176,414 (GRCm39) |
E1683K |
probably damaging |
Het |
Rap2a |
T |
A |
14: 120,716,406 (GRCm39) |
F90I |
probably benign |
Het |
Rcvrn |
A |
G |
11: 67,590,875 (GRCm39) |
E153G |
possibly damaging |
Het |
Sharpin |
C |
A |
15: 76,234,866 (GRCm39) |
|
probably benign |
Het |
Skil |
T |
A |
3: 31,151,647 (GRCm39) |
D56E |
probably benign |
Het |
Slc22a18 |
G |
T |
7: 143,033,082 (GRCm39) |
G57W |
probably damaging |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Synj1 |
T |
C |
16: 90,788,406 (GRCm39) |
D154G |
probably damaging |
Het |
Tbc1d24 |
A |
T |
17: 24,400,746 (GRCm39) |
N156K |
probably benign |
Het |
Tcea1 |
A |
T |
1: 4,950,568 (GRCm39) |
|
probably benign |
Het |
Tmc3 |
T |
C |
7: 83,261,755 (GRCm39) |
V611A |
probably damaging |
Het |
Tnrc6c |
A |
G |
11: 117,591,588 (GRCm39) |
M1V |
probably null |
Het |
Tomm5 |
A |
T |
4: 45,106,689 (GRCm39) |
|
probably benign |
Het |
Ttc6 |
A |
G |
12: 57,736,620 (GRCm39) |
K1207R |
probably null |
Het |
Ttn |
T |
C |
2: 76,591,448 (GRCm39) |
T12747A |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,715,480 (GRCm39) |
|
probably benign |
Het |
Utrn |
T |
C |
10: 12,569,175 (GRCm39) |
D1147G |
probably benign |
Het |
Vmn1r53 |
T |
C |
6: 90,200,395 (GRCm39) |
I310V |
probably benign |
Het |
Washc4 |
A |
C |
10: 83,410,386 (GRCm39) |
D658A |
probably benign |
Het |
Wrap73 |
G |
A |
4: 154,229,731 (GRCm39) |
R34Q |
probably damaging |
Het |
Ylpm1 |
T |
C |
12: 85,077,003 (GRCm39) |
F1243L |
probably benign |
Het |
Zbtb24 |
T |
C |
10: 41,340,784 (GRCm39) |
S605P |
probably benign |
Het |
Zfy1 |
T |
G |
Y: 726,205 (GRCm39) |
H520P |
possibly damaging |
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 |
IGL02711:Maml2
|
APN |
9 |
13,531,359 (GRCm39) |
missense |
probably benign |
0.14 |
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 |
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 |
|
|
Predicted Primers |
|
Posted On |
2016-09-01 |