Incidental Mutation 'R2426:Maml2'
ID |
250227 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Maml2
|
Ensembl Gene |
ENSMUSG00000031925 |
Gene Name |
mastermind like transcriptional coactivator 2 |
Synonyms |
|
MMRRC Submission |
040388-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2426 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
13298306-13620684 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13617794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 380
(L380P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136866
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034401]
[ENSMUST00000159294]
[ENSMUST00000177755]
|
AlphaFold |
F6U238 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034401
AA Change: L380P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034401 Gene: ENSMUSG00000031925 AA Change: L380P
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
low complexity region
|
144 |
163 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000159294
AA Change: L1136P
|
SMART Domains |
Protein: ENSMUSP00000124083 Gene: ENSMUSG00000031925 AA Change: L1136P
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 damaging
Transcript: ENSMUST00000177755
AA Change: L380P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136866 Gene: ENSMUSG00000031925 AA Change: L380P
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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
G |
T |
7: 119,882,446 (GRCm39) |
V1203L |
probably benign |
Het |
Adamtsl1 |
G |
A |
4: 86,075,025 (GRCm39) |
V131I |
probably benign |
Het |
Adgra3 |
A |
T |
5: 50,166,791 (GRCm39) |
M187K |
possibly damaging |
Het |
Agbl1 |
T |
C |
7: 76,071,650 (GRCm39) |
V324A |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,980,215 (GRCm39) |
I500F |
possibly damaging |
Het |
Aldh1l1 |
A |
G |
6: 90,575,266 (GRCm39) |
D851G |
probably damaging |
Het |
Amot |
T |
C |
X: 144,259,287 (GRCm39) |
K460E |
probably damaging |
Het |
Arhgef3 |
G |
T |
14: 27,106,138 (GRCm39) |
E161* |
probably null |
Het |
Atg9b |
A |
T |
5: 24,591,992 (GRCm39) |
I669N |
probably damaging |
Het |
Ccdc83 |
A |
G |
7: 89,877,639 (GRCm39) |
Y268H |
probably damaging |
Het |
Cep170 |
A |
G |
1: 176,602,201 (GRCm39) |
S302P |
probably benign |
Het |
Cyp4a31 |
T |
A |
4: 115,428,213 (GRCm39) |
M303K |
probably damaging |
Het |
Cyp4v3 |
T |
A |
8: 45,770,813 (GRCm39) |
Y231F |
probably benign |
Het |
Defa39 |
T |
G |
8: 22,192,653 (GRCm39) |
K114N |
possibly damaging |
Het |
Dock3 |
A |
T |
9: 106,791,740 (GRCm39) |
L1411Q |
possibly damaging |
Het |
Dsg1a |
T |
A |
18: 20,469,861 (GRCm39) |
I629N |
probably damaging |
Het |
Dst |
A |
T |
1: 34,231,893 (GRCm39) |
H2837L |
probably benign |
Het |
Fam114a2 |
G |
A |
11: 57,383,906 (GRCm39) |
P343L |
probably benign |
Het |
Fbrs |
A |
G |
7: 127,086,511 (GRCm39) |
|
probably null |
Het |
Fbxl13 |
A |
C |
5: 21,727,135 (GRCm39) |
D620E |
probably damaging |
Het |
Frmd4a |
T |
A |
2: 4,534,673 (GRCm39) |
S164T |
probably damaging |
Het |
Gdi2 |
T |
G |
13: 3,612,034 (GRCm39) |
S330A |
probably benign |
Het |
Gm5878 |
A |
T |
6: 85,095,613 (GRCm39) |
M70K |
probably benign |
Het |
H2-Q6 |
G |
T |
17: 35,643,913 (GRCm39) |
A21S |
probably benign |
Het |
Hfm1 |
A |
T |
5: 106,995,519 (GRCm39) |
|
probably null |
Het |
Hnmt |
C |
T |
2: 23,909,167 (GRCm39) |
C82Y |
probably benign |
Het |
Il1rl1 |
C |
A |
1: 40,485,779 (GRCm39) |
A310D |
probably damaging |
Het |
Ints1 |
A |
T |
5: 139,757,569 (GRCm39) |
|
probably null |
Het |
Kcne4 |
C |
A |
1: 78,795,688 (GRCm39) |
A112E |
possibly damaging |
Het |
Krt32 |
T |
C |
11: 99,977,192 (GRCm39) |
K236R |
possibly damaging |
Het |
Meis1 |
A |
T |
11: 18,938,356 (GRCm39) |
D218E |
possibly damaging |
Het |
Mon1b |
G |
A |
8: 114,365,752 (GRCm39) |
G360D |
probably damaging |
Het |
Mpp4 |
A |
G |
1: 59,169,216 (GRCm39) |
S383P |
probably damaging |
Het |
Neb |
A |
G |
2: 52,059,065 (GRCm39) |
|
probably null |
Het |
Nlgn2 |
A |
T |
11: 69,717,912 (GRCm39) |
I431N |
probably damaging |
Het |
Nr2e1 |
A |
G |
10: 42,439,481 (GRCm39) |
L134P |
probably damaging |
Het |
Opcml |
G |
A |
9: 28,814,663 (GRCm39) |
|
probably null |
Het |
Or2t29 |
A |
T |
11: 58,433,920 (GRCm39) |
Y127* |
probably null |
Het |
Or6c207 |
T |
C |
10: 129,105,135 (GRCm39) |
Q19R |
probably benign |
Het |
Or7c19 |
T |
C |
8: 85,957,693 (GRCm39) |
S190P |
probably damaging |
Het |
Pate2 |
A |
T |
9: 35,581,776 (GRCm39) |
|
probably null |
Het |
Pgr |
G |
A |
9: 8,900,718 (GRCm39) |
V84M |
probably damaging |
Het |
Pigu |
A |
T |
2: 155,141,002 (GRCm39) |
V296D |
probably damaging |
Het |
Plcb2 |
G |
A |
2: 118,546,130 (GRCm39) |
T555M |
probably damaging |
Het |
Pld5 |
T |
G |
1: 175,791,542 (GRCm39) |
D426A |
probably benign |
Het |
Prdm2 |
G |
T |
4: 142,838,320 (GRCm39) |
C1679* |
probably null |
Het |
Psme2b |
A |
T |
11: 48,836,890 (GRCm39) |
V19D |
probably benign |
Het |
Ptpn9 |
A |
T |
9: 56,934,712 (GRCm39) |
N159Y |
possibly damaging |
Het |
Sanbr |
T |
A |
11: 23,526,801 (GRCm39) |
R190W |
probably damaging |
Het |
Sdc3 |
A |
T |
4: 130,546,114 (GRCm39) |
T64S |
unknown |
Het |
Serping1 |
T |
G |
2: 84,600,563 (GRCm39) |
S260R |
probably damaging |
Het |
Slc20a1 |
T |
C |
2: 129,050,150 (GRCm39) |
F436S |
probably benign |
Het |
Sntb1 |
A |
T |
15: 55,769,575 (GRCm39) |
I138N |
probably damaging |
Het |
Sorcs3 |
A |
T |
19: 48,711,364 (GRCm39) |
Y643F |
probably damaging |
Het |
Spink1 |
G |
T |
18: 43,868,287 (GRCm39) |
S23* |
probably null |
Het |
Stag1 |
T |
C |
9: 100,727,169 (GRCm39) |
|
probably null |
Het |
Tnfaip8l1 |
G |
A |
17: 56,479,030 (GRCm39) |
V107I |
probably benign |
Het |
Tnik |
A |
G |
3: 28,700,830 (GRCm39) |
S907G |
probably damaging |
Het |
Ttf1 |
T |
A |
2: 28,957,197 (GRCm39) |
M489K |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Usp54 |
G |
A |
14: 20,615,008 (GRCm39) |
A811V |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,344,815 (GRCm39) |
N2352S |
probably benign |
Het |
Zan |
T |
C |
5: 137,387,254 (GRCm39) |
Y4933C |
unknown |
Het |
Zbtb8a |
A |
G |
4: 129,254,012 (GRCm39) |
S161P |
probably benign |
Het |
Zkscan5 |
A |
T |
5: 145,157,750 (GRCm39) |
I751L |
probably benign |
Het |
Zscan4d |
A |
G |
7: 10,899,022 (GRCm39) |
F85S |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,806,091 (GRCm39) |
M2647V |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTTGAACCTCAGACCCAATC -3'
(R):5'- ACTTCAGCAGTTTGGCATTACAG -3'
Sequencing Primer
(F):5'- GCCCAGAGCCTGTCTAATATG -3'
(R):5'- CAGCAGTTTGGCATTACAGTATCC -3'
|
Posted On |
2014-11-12 |