Incidental Mutation 'R6854:Maml2'
| ID |
535151 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Maml2
|
| Ensembl Gene |
ENSMUSG00000031925 |
| Gene Name |
mastermind like transcriptional coactivator 2 |
| Synonyms |
|
| MMRRC Submission |
044957-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6854 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
13298306-13620684 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13617131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 159
(T159I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034401]
[ENSMUST00000159294]
[ENSMUST00000177755]
|
| AlphaFold |
F6U238 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034401
AA Change: T159I
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000034401
Gene: ENSMUSG00000031925
AA Change: T159I
| 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: T915I
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: T915I
| 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 |
possibly damaging
Transcript: ENSMUST00000177755
AA Change: T159I
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000136866
Gene: ENSMUSG00000031925
AA Change: T159I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,992,599 (GRCm39) |
S4628P |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,390,920 (GRCm39) |
R735H |
possibly damaging |
Het |
| Atp4a |
T |
C |
7: 30,414,433 (GRCm39) |
V152A |
probably benign |
Het |
| BC035947 |
G |
A |
1: 78,475,125 (GRCm39) |
T469I |
probably damaging |
Het |
| Bicra |
A |
T |
7: 15,722,687 (GRCm39) |
S277T |
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,881,127 (GRCm39) |
N1142K |
possibly damaging |
Het |
| Ccnd3 |
T |
C |
17: 47,889,645 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
A |
G |
9: 109,708,995 (GRCm39) |
K79E |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,269,391 (GRCm39) |
|
probably null |
Het |
| Chd5 |
C |
A |
4: 152,467,395 (GRCm39) |
N1644K |
probably damaging |
Het |
| Flrt3 |
C |
T |
2: 140,502,638 (GRCm39) |
R330H |
probably damaging |
Het |
| Gm6034 |
T |
A |
17: 36,368,110 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
A |
G |
13: 42,309,983 (GRCm39) |
E741G |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,004,258 (GRCm39) |
V448A |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,702,382 (GRCm39) |
R679G |
probably benign |
Het |
| Klrb1c |
A |
G |
6: 128,765,381 (GRCm39) |
S70P |
possibly damaging |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Mycl |
G |
A |
4: 122,894,039 (GRCm39) |
D280N |
probably damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,119,259 (GRCm39) |
T12I |
possibly damaging |
Het |
| Or4f14c |
T |
C |
2: 111,940,992 (GRCm39) |
N202D |
probably benign |
Het |
| Or5h19 |
A |
C |
16: 58,856,428 (GRCm39) |
I224S |
possibly damaging |
Het |
| Palmd |
A |
G |
3: 116,717,112 (GRCm39) |
S462P |
probably benign |
Het |
| Phyhd1 |
A |
C |
2: 30,159,773 (GRCm39) |
I36L |
possibly damaging |
Het |
| Plcd1 |
T |
C |
9: 118,903,389 (GRCm39) |
|
probably null |
Het |
| Pml |
G |
C |
9: 58,127,189 (GRCm39) |
A806G |
probably damaging |
Het |
| Ppp6r1 |
C |
A |
7: 4,635,395 (GRCm39) |
A838S |
probably benign |
Het |
| Prkdc |
C |
T |
16: 15,469,402 (GRCm39) |
T169I |
probably damaging |
Het |
| Prr23a1 |
G |
T |
9: 98,724,988 (GRCm39) |
V117L |
possibly damaging |
Het |
| Pus7 |
T |
C |
5: 23,973,845 (GRCm39) |
|
silent |
Het |
| Rdh7 |
T |
C |
10: 127,724,250 (GRCm39) |
E78G |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,570,825 (GRCm39) |
|
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,430 (GRCm39) |
N921S |
possibly damaging |
Het |
| Sema4f |
A |
G |
6: 82,894,983 (GRCm39) |
L404P |
probably damaging |
Het |
| Serinc4 |
T |
A |
2: 121,287,031 (GRCm39) |
M2L |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,001,604 (GRCm39) |
V138A |
probably benign |
Het |
| Slc66a3 |
G |
A |
12: 17,049,830 (GRCm39) |
L43F |
probably damaging |
Het |
| Speer2 |
T |
A |
16: 69,655,775 (GRCm39) |
Q106L |
probably damaging |
Het |
| Sptb |
G |
A |
12: 76,650,254 (GRCm39) |
P1821L |
probably damaging |
Het |
| St3gal3 |
C |
A |
4: 117,815,727 (GRCm39) |
M107I |
probably benign |
Het |
| Tmem25 |
T |
C |
9: 44,707,305 (GRCm39) |
K265E |
possibly damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Vsig10 |
G |
A |
5: 117,476,472 (GRCm39) |
V309I |
probably benign |
Het |
| Zfp318 |
G |
GAAGAAA |
17: 46,723,468 (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 |
|
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 |
|
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 |
|
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'- GGCTCTGACAAACCCAGTTTC -3'
(R):5'- AGCCCAGTTTGTTGCTGTCG -3'
Sequencing Primer
(F):5'- GTTTCAACACACACCATTTTAACTC -3'
(R):5'- CGTGTTGGCTGTGATCATGACAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation