Incidental Mutation 'R7803:Maml2'
| ID |
600617 |
| 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 |
147.467 |
|
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) |
AGC to AGCCGC
at 13532571 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 |
13,532,572 (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'- CAGGAGCTCAATCGAAGCTTC -3'
(R):5'- ATAAAGCATGGGTGGGTTGC -3'
Sequencing Primer
(F):5'- GCTCAATCGAAGCTTCATTAATAACC -3'
(R):5'- TGCTGAGCTGTCAATGAACC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation