Incidental Mutation 'R0318:Maml2'
| ID |
25515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Maml2
|
| Ensembl Gene |
ENSMUSG00000031925 |
| Gene Name |
mastermind like transcriptional coactivator 2 |
| Synonyms |
|
| MMRRC Submission |
038528-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0318 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
13298306-13620684 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13531890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 368
(T368I)
|
| 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 damaging
Transcript: ENSMUST00000159294
AA Change: T368I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: T368I
| 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 |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 86.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,892,370 (GRCm39) |
L79Q |
probably damaging |
Het |
| Add1 |
T |
C |
5: 34,782,684 (GRCm39) |
V130A |
probably damaging |
Het |
| Ankrd23 |
G |
T |
1: 36,573,153 (GRCm39) |
T73K |
probably benign |
Het |
| Blk |
A |
G |
14: 63,611,646 (GRCm39) |
Y430H |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,531,709 (GRCm39) |
V272M |
probably damaging |
Het |
| Cerk |
C |
T |
15: 86,035,766 (GRCm39) |
A254T |
possibly damaging |
Het |
| Ces2a |
G |
A |
8: 105,467,456 (GRCm39) |
A494T |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,234,482 (GRCm39) |
Y258C |
probably damaging |
Het |
| Chaf1a |
C |
T |
17: 56,369,227 (GRCm39) |
T486I |
possibly damaging |
Het |
| Colec12 |
A |
G |
18: 9,848,446 (GRCm39) |
N208S |
possibly damaging |
Het |
| Coro7 |
T |
A |
16: 4,493,671 (GRCm39) |
H63L |
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,216,173 (GRCm39) |
W833R |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,522,549 (GRCm39) |
W2707R |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
| Ddx50 |
A |
T |
10: 62,478,616 (GRCm39) |
I190K |
probably damaging |
Het |
| Dnmt3l |
G |
A |
10: 77,890,889 (GRCm39) |
V264M |
probably damaging |
Het |
| Dnpep |
A |
G |
1: 75,293,270 (GRCm39) |
V33A |
probably damaging |
Het |
| Fam163a |
A |
G |
1: 155,955,715 (GRCm39) |
C26R |
probably damaging |
Het |
| Fam83h |
A |
G |
15: 75,875,478 (GRCm39) |
S620P |
probably benign |
Het |
| Fcna |
A |
G |
2: 25,515,071 (GRCm39) |
S263P |
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,419,685 (GRCm39) |
S165R |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,410 (GRCm39) |
T244A |
probably benign |
Het |
| Gpr152 |
T |
C |
19: 4,193,541 (GRCm39) |
S361P |
possibly damaging |
Het |
| Grm5 |
A |
T |
7: 87,252,175 (GRCm39) |
I142L |
probably damaging |
Het |
| Gucy2g |
A |
G |
19: 55,226,230 (GRCm39) |
S229P |
probably benign |
Het |
| Htr7 |
C |
T |
19: 35,946,886 (GRCm39) |
G376D |
probably damaging |
Het |
| Irgc |
T |
C |
7: 24,131,896 (GRCm39) |
D307G |
probably benign |
Het |
| Irs1 |
A |
T |
1: 82,266,381 (GRCm39) |
S612T |
probably benign |
Het |
| Mapkapk2 |
A |
G |
1: 131,025,072 (GRCm39) |
V64A |
probably damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Nptx1 |
C |
T |
11: 119,433,367 (GRCm39) |
E411K |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5ak25 |
C |
A |
2: 85,268,581 (GRCm39) |
R307M |
possibly damaging |
Het |
| Pcgf5 |
A |
T |
19: 36,389,590 (GRCm39) |
K22N |
possibly damaging |
Het |
| Psmd9 |
C |
A |
5: 123,372,712 (GRCm39) |
A65E |
possibly damaging |
Het |
| Sh3bp1 |
A |
G |
15: 78,795,907 (GRCm39) |
T679A |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,174,436 (GRCm39) |
P1281S |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc25a24 |
A |
G |
3: 109,064,316 (GRCm39) |
M222V |
probably benign |
Het |
| Smg9 |
T |
C |
7: 24,120,313 (GRCm39) |
F429S |
possibly damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,993,250 (GRCm39) |
Y258F |
probably damaging |
Het |
| Srp72 |
C |
T |
5: 77,132,047 (GRCm39) |
T242I |
probably benign |
Het |
| Stc1 |
A |
T |
14: 69,275,867 (GRCm39) |
Q220L |
probably damaging |
Het |
| Tas2r122 |
T |
C |
6: 132,688,795 (GRCm39) |
T33A |
possibly damaging |
Het |
| Tbc1d10b |
A |
G |
7: 126,798,206 (GRCm39) |
L645P |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,665,619 (GRCm39) |
F47S |
probably benign |
Het |
| Timd4 |
T |
A |
11: 46,727,898 (GRCm39) |
H272Q |
probably benign |
Het |
| Ttll5 |
T |
G |
12: 85,923,368 (GRCm39) |
|
probably null |
Het |
| Veph1 |
G |
T |
3: 65,964,680 (GRCm39) |
S783Y |
probably damaging |
Het |
| Vmn1r230 |
T |
C |
17: 21,067,078 (GRCm39) |
L89S |
possibly damaging |
Het |
| Xcr1 |
A |
G |
9: 123,685,219 (GRCm39) |
V165A |
possibly damaging |
Het |
| Zfp286 |
T |
C |
11: 62,675,788 (GRCm39) |
D58G |
probably damaging |
Het |
| Zfyve26 |
C |
T |
12: 79,323,055 (GRCm39) |
R897H |
probably 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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGATCAACTGATGGACCCTGAG -3'
(R):5'- ATGGGATACTTCTTGCCAGCTTGAC -3'
Sequencing Primer
(F):5'- CTGAGCTACAGGAACTGTTCAATG -3'
(R):5'- GTGCAGAGTTAGCCAAGGAA -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation