Incidental Mutation 'R9403:Maml2'
| ID |
711351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Maml2
|
| Ensembl Gene |
ENSMUSG00000031925 |
| Gene Name |
mastermind like transcriptional coactivator 2 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9403 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
13297957-13709388 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 13621673 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 728
(Q728*)
|
| 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 null
Transcript: ENSMUST00000159294
AA Change: Q728*
|
| SMART Domains |
Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: Q728*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123L14Rik |
T |
G |
6: 96,165,299 |
T255P |
probably benign |
Het |
| 4930444G20Rik |
C |
T |
10: 22,067,941 |
D47N |
possibly damaging |
Het |
| Angpt4 |
C |
T |
2: 151,938,972 |
T380M |
probably damaging |
Het |
| Apoa5 |
G |
C |
9: 46,270,646 |
R340P |
probably damaging |
Het |
| Cyp3a41a |
T |
A |
5: 145,702,198 |
Y320F |
probably damaging |
Het |
| Dmtf1 |
A |
G |
5: 9,121,927 |
L503S |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 135,168,396 |
V1795A |
probably benign |
Het |
| Dpys |
C |
G |
15: 39,828,071 |
W285S |
probably damaging |
Het |
| Fam187b |
T |
C |
7: 30,977,090 |
V8A |
|
Het |
| Fbn2 |
T |
C |
18: 58,066,107 |
E1363G |
probably damaging |
Het |
| Glg1 |
C |
T |
8: 111,187,793 |
R453Q |
probably benign |
Het |
| Gm5591 |
T |
A |
7: 38,520,148 |
M434L |
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,522,256 |
T130A |
probably damaging |
Het |
| Gpld1 |
G |
A |
13: 24,979,729 |
V502I |
probably benign |
Het |
| Inhba |
A |
G |
13: 16,017,381 |
H29R |
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,325,660 |
I990N |
possibly damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,543,077 |
I280L |
probably benign |
Het |
| Malrd1 |
T |
C |
2: 15,614,177 |
V284A |
|
Het |
| Mkln1 |
T |
C |
6: 31,432,970 |
L181P |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,580,204 |
|
probably null |
Het |
| Muc16 |
A |
G |
9: 18,537,764 |
|
probably null |
Het |
| Mylk |
C |
A |
16: 34,875,642 |
S249* |
probably null |
Het |
| Naa35 |
G |
A |
13: 59,601,003 |
A150T |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,219,830 |
E1092D |
probably benign |
Het |
| Nup205 |
G |
A |
6: 35,199,974 |
R635H |
probably benign |
Het |
| Olfr263 |
T |
C |
13: 21,133,695 |
F307L |
probably benign |
Het |
| Olfr723 |
T |
C |
14: 49,929,449 |
T32A |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,810,532 |
I26V |
probably benign |
Het |
| Polq |
T |
C |
16: 37,061,853 |
S1460P |
probably benign |
Het |
| Ptgdr |
A |
G |
14: 44,853,258 |
S348P |
|
Het |
| Qsox1 |
A |
G |
1: 155,782,597 |
S409P |
probably damaging |
Het |
| Rergl |
T |
A |
6: 139,494,854 |
Y99F |
possibly damaging |
Het |
| Rptn |
C |
A |
3: 93,395,042 |
H22N |
probably benign |
Het |
| Sh2b1 |
ACCAGCTCAGCCACGGGG |
ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG |
7: 126,467,575 |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,467,570 |
|
probably benign |
Het |
| Sh2b1 |
GGACCAGCTCAG |
GGACCAGCTCAGTCACGGTGACCAGCTCAG |
7: 126,467,573 |
|
probably null |
Het |
| Slc2a3 |
A |
C |
6: 122,736,610 |
I214M |
probably damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,276,641 |
N540K |
probably benign |
Het |
| Slco6c1 |
A |
T |
1: 97,062,523 |
S664R |
possibly damaging |
Het |
| Tgm4 |
C |
A |
9: 123,052,772 |
S344R |
probably damaging |
Het |
| Trim61 |
T |
A |
8: 65,014,576 |
Q11L |
probably damaging |
Het |
| Trpm6 |
C |
A |
19: 18,832,652 |
D1137E |
possibly damaging |
Het |
| Txndc2 |
G |
A |
17: 65,637,997 |
T395I |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 37,995,778 |
E15G |
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,745,824 |
I778T |
possibly damaging |
Het |
| Zfp383 |
T |
C |
7: 29,915,259 |
F313S |
possibly damaging |
Het |
|
| Other mutations in Maml2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Maml2
|
APN |
9 |
13,621,604 (GRCm38) |
unclassified |
probably benign |
|
|
IGL00424:Maml2
|
APN |
9 |
13,620,912 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02711:Maml2
|
APN |
9 |
13,620,063 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL03079:Maml2
|
APN |
9 |
13,621,616 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03217:Maml2
|
APN |
9 |
13,619,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
FR4304:Maml2
|
UTSW |
9 |
13,621,459 (GRCm38) |
small deletion |
probably benign |
|
|
FR4449:Maml2
|
UTSW |
9 |
13,621,456 (GRCm38) |
small deletion |
probably benign |
|
|
PIT4810001:Maml2
|
UTSW |
9 |
13,620,024 (GRCm38) |
missense |
|
|
|
R0102:Maml2
|
UTSW |
9 |
13,705,932 (GRCm38) |
synonymous |
silent |
|
|
R0318:Maml2
|
UTSW |
9 |
13,620,594 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0380:Maml2
|
UTSW |
9 |
13,621,100 (GRCm38) |
nonsense |
probably null |
|
|
R1433:Maml2
|
UTSW |
9 |
13,706,501 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1449:Maml2
|
UTSW |
9 |
13,620,684 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1789:Maml2
|
UTSW |
9 |
13,697,345 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2173:Maml2
|
UTSW |
9 |
13,621,616 (GRCm38) |
unclassified |
probably benign |
|
|
R2363:Maml2
|
UTSW |
9 |
13,621,245 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2426:Maml2
|
UTSW |
9 |
13,706,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2880:Maml2
|
UTSW |
9 |
13,620,597 (GRCm38) |
splice site |
probably null |
|
|
R3981:Maml2
|
UTSW |
9 |
13,621,068 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4094:Maml2
|
UTSW |
9 |
13,620,153 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4117:Maml2
|
UTSW |
9 |
13,705,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4282:Maml2
|
UTSW |
9 |
13,620,110 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4618:Maml2
|
UTSW |
9 |
13,620,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4921:Maml2
|
UTSW |
9 |
13,621,175 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4957:Maml2
|
UTSW |
9 |
13,620,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5195:Maml2
|
UTSW |
9 |
13,621,114 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5428:Maml2
|
UTSW |
9 |
13,705,895 (GRCm38) |
missense |
probably benign |
0.30 |
|
R5448:Maml2
|
UTSW |
9 |
13,706,467 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5450:Maml2
|
UTSW |
9 |
13,706,467 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5455:Maml2
|
UTSW |
9 |
13,705,743 (GRCm38) |
nonsense |
probably null |
|
|
R5620:Maml2
|
UTSW |
9 |
13,697,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5973:Maml2
|
UTSW |
9 |
13,621,619 (GRCm38) |
unclassified |
probably benign |
|
|
R6009:Maml2
|
UTSW |
9 |
13,620,998 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6054:Maml2
|
UTSW |
9 |
13,621,399 (GRCm38) |
small deletion |
probably benign |
|
|
R6257:Maml2
|
UTSW |
9 |
13,620,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6727:Maml2
|
UTSW |
9 |
13,621,551 (GRCm38) |
unclassified |
probably benign |
|
|
R6824:Maml2
|
UTSW |
9 |
13,697,217 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R6854:Maml2
|
UTSW |
9 |
13,705,835 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R6998:Maml2
|
UTSW |
9 |
13,621,185 (GRCm38) |
unclassified |
probably benign |
|
|
R7047:Maml2
|
UTSW |
9 |
13,620,881 (GRCm38) |
unclassified |
probably benign |
|
|
R7233:Maml2
|
UTSW |
9 |
13,620,771 (GRCm38) |
missense |
|
|
|
R7326:Maml2
|
UTSW |
9 |
13,621,607 (GRCm38) |
missense |
|
|
|
R7612:Maml2
|
UTSW |
9 |
13,706,485 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7652:Maml2
|
UTSW |
9 |
13,621,649 (GRCm38) |
missense |
|
|
|
R7699:Maml2
|
UTSW |
9 |
13,621,089 (GRCm38) |
missense |
|
|
|
R7700:Maml2
|
UTSW |
9 |
13,621,089 (GRCm38) |
missense |
|
|
|
R7803:Maml2
|
UTSW |
9 |
13,621,276 (GRCm38) |
small insertion |
probably benign |
|
|
R7803:Maml2
|
UTSW |
9 |
13,621,275 (GRCm38) |
small insertion |
probably benign |
|
|
R7803:Maml2
|
UTSW |
9 |
13,621,254 (GRCm38) |
small insertion |
probably benign |
|
|
R8425:Maml2
|
UTSW |
9 |
13,620,117 (GRCm38) |
missense |
|
|
|
R8810:Maml2
|
UTSW |
9 |
13,621,622 (GRCm38) |
missense |
|
|
|
R9277:Maml2
|
UTSW |
9 |
13,620,576 (GRCm38) |
missense |
|
|
|
R9359:Maml2
|
UTSW |
9 |
13,621,673 (GRCm38) |
nonsense |
probably null |
|
|
RF015:Maml2
|
UTSW |
9 |
13,621,456 (GRCm38) |
small deletion |
probably benign |
|
|
RF044:Maml2
|
UTSW |
9 |
13,621,456 (GRCm38) |
small deletion |
probably benign |
|
|
X0063:Maml2
|
UTSW |
9 |
13,620,341 (GRCm38) |
missense |
probably benign |
0.09 |
|
Z1177:Maml2
|
UTSW |
9 |
13,706,590 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTGCCTTCCCAGAGCAAAC -3'
(R):5'- TCACTGATCATTACAGATCCCC -3'
Sequencing Primer
(F):5'- AGGTTCATTGACAGCTCAGC -3'
(R):5'- TGATCATTACAGATCCCCCAAGC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation