Incidental Mutation 'R7803:Maml2'
ID |
600618 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Maml2
|
Ensembl Gene |
ENSMUSG00000031925 |
Gene Name |
mastermind like transcriptional coactivator 2 |
Synonyms |
|
MMRRC Submission |
045858-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7803 (G1)
|
Quality Score |
141.467 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
13298306-13620684 bp(+) (GRCm39) |
Type of Mutation |
small insertion (1 aa in frame mutation) |
DNA Base Change (assembly) |
GCA to GCACCA
at 13532572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 benign
Transcript: ENSMUST00000159294
|
SMART Domains |
Protein: ENSMUSP00000124083 Gene: ENSMUSG00000031925
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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acta2 |
C |
A |
19: 34,220,818 (GRCm39) |
A297S |
probably benign |
Het |
Ada |
A |
G |
2: 163,577,288 (GRCm39) |
Y67H |
probably benign |
Het |
Adcy9 |
A |
G |
16: 4,122,244 (GRCm39) |
I839T |
probably benign |
Het |
Arg1 |
C |
T |
10: 24,792,689 (GRCm39) |
V182I |
possibly damaging |
Het |
Cbx7 |
G |
A |
15: 79,818,024 (GRCm39) |
T26M |
unknown |
Het |
Ceacam5 |
A |
G |
7: 17,493,317 (GRCm39) |
Y780C |
probably damaging |
Het |
Ces2h |
A |
G |
8: 105,745,032 (GRCm39) |
M389V |
probably benign |
Het |
Chst11 |
A |
T |
10: 83,027,020 (GRCm39) |
E149V |
possibly damaging |
Het |
Clstn1 |
T |
C |
4: 149,716,328 (GRCm39) |
W265R |
probably damaging |
Het |
Col4a4 |
A |
G |
1: 82,467,419 (GRCm39) |
|
probably null |
Het |
Csrp3 |
T |
G |
7: 48,483,545 (GRCm39) |
K119T |
probably benign |
Het |
Ddx39a |
T |
C |
8: 84,446,229 (GRCm39) |
|
probably null |
Het |
Ddx41 |
A |
G |
13: 55,679,734 (GRCm39) |
I437T |
probably damaging |
Het |
Eif1ad4 |
T |
A |
12: 87,862,269 (GRCm39) |
C44S |
probably benign |
Het |
Fbln5 |
A |
T |
12: 101,728,077 (GRCm39) |
D282E |
probably damaging |
Het |
Folh1 |
G |
A |
7: 86,375,306 (GRCm39) |
T527I |
probably damaging |
Het |
Gch1 |
T |
A |
14: 47,426,418 (GRCm39) |
T103S |
probably benign |
Het |
Gpr149 |
A |
G |
3: 62,438,136 (GRCm39) |
S674P |
probably damaging |
Het |
Hecw1 |
G |
T |
13: 14,408,927 (GRCm39) |
R1127S |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,646,030 (GRCm39) |
C723S |
probably benign |
Het |
Impg2 |
T |
C |
16: 56,087,513 (GRCm39) |
S1111P |
probably damaging |
Het |
Insl3 |
T |
C |
8: 72,141,984 (GRCm39) |
L28P |
probably damaging |
Het |
Kifc1 |
T |
C |
17: 34,103,714 (GRCm39) |
D203G |
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,760,804 (GRCm39) |
S849T |
unknown |
Het |
Krt33b |
A |
G |
11: 99,916,084 (GRCm39) |
|
probably null |
Het |
Lpin3 |
A |
G |
2: 160,737,310 (GRCm39) |
D119G |
possibly damaging |
Het |
Nsun7 |
T |
A |
5: 66,433,884 (GRCm39) |
L178* |
probably null |
Het |
Or6c1b |
A |
G |
10: 129,272,800 (GRCm39) |
N40D |
probably damaging |
Het |
Or6c205 |
A |
T |
10: 129,086,864 (GRCm39) |
I154F |
probably benign |
Het |
Or8g55 |
A |
T |
9: 39,785,378 (GRCm39) |
D269V |
probably benign |
Het |
Orc6 |
T |
A |
8: 86,030,037 (GRCm39) |
S136T |
possibly damaging |
Het |
Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
Plxnc1 |
A |
G |
10: 94,779,377 (GRCm39) |
|
probably null |
Het |
Prkdc |
G |
A |
16: 15,623,960 (GRCm39) |
D3308N |
probably null |
Het |
Rtkn2 |
G |
A |
10: 67,815,643 (GRCm39) |
|
probably null |
Het |
Sele |
T |
C |
1: 163,878,263 (GRCm39) |
S201P |
possibly damaging |
Het |
Shq1 |
A |
G |
6: 100,648,006 (GRCm39) |
F6S |
probably damaging |
Het |
Sparc |
A |
T |
11: 55,300,797 (GRCm39) |
I5N |
probably damaging |
Het |
Spata31e3 |
A |
G |
13: 50,400,226 (GRCm39) |
V700A |
probably benign |
Het |
Srm |
T |
C |
4: 148,678,402 (GRCm39) |
I238T |
probably damaging |
Het |
Stx2 |
C |
A |
5: 129,070,627 (GRCm39) |
E97* |
probably null |
Het |
Sugp2 |
C |
T |
8: 70,704,722 (GRCm39) |
P753L |
probably benign |
Het |
Tenm2 |
A |
T |
11: 35,937,943 (GRCm39) |
S1578T |
probably damaging |
Het |
Tff3 |
T |
C |
17: 31,348,544 (GRCm39) |
T3A |
probably benign |
Het |
Tmem38a |
C |
T |
8: 73,325,964 (GRCm39) |
A6V |
probably benign |
Het |
Trbv16 |
G |
A |
6: 41,128,929 (GRCm39) |
A38T |
not run |
Het |
Trim30a |
G |
A |
7: 104,060,604 (GRCm39) |
Q391* |
probably null |
Het |
Ttn |
T |
G |
2: 76,606,715 (GRCm39) |
Y18065S |
probably damaging |
Het |
Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
Vmn2r24 |
T |
A |
6: 123,757,438 (GRCm39) |
M102K |
probably benign |
Het |
Vmn2r69 |
G |
T |
7: 85,056,324 (GRCm39) |
H605N |
probably benign |
Het |
Washc1 |
T |
A |
17: 66,426,055 (GRCm39) |
M451K |
possibly damaging |
Het |
Washc3 |
G |
T |
10: 88,051,937 (GRCm39) |
|
probably null |
Het |
Washc5 |
A |
T |
15: 59,240,308 (GRCm39) |
Y112N |
probably damaging |
Het |
Zbtb40 |
T |
A |
4: 136,744,638 (GRCm39) |
T261S |
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 |
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 |
13,532,571 (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'- TCAGGAGCTCAATCGAAGCTTC -3'
(R):5'- ATAAAGCATGGGTGGGTTGC -3'
Sequencing Primer
(F):5'- GCTCAATCGAAGCTTCATTAATAACC -3'
(R):5'- TGCTGAGCTGTCAATGAACC -3'
|
Posted On |
2019-11-26 |