Incidental Mutation 'R9277:Maml2'
| ID |
703378 |
| 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 # |
R9277 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
13298306-13620684 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13531872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 362
(E362G)
|
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: E362G
| 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: 98.9%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,867,347 (GRCm39) |
Y237C |
probably damaging |
Het |
| Adam12 |
T |
C |
7: 133,521,561 (GRCm39) |
S566G |
probably benign |
Het |
| Afdn |
T |
A |
17: 14,024,270 (GRCm39) |
C59S |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,061,183 (GRCm39) |
I3222F |
probably benign |
Het |
| Cdyl |
A |
G |
13: 36,042,222 (GRCm39) |
D420G |
probably benign |
Het |
| Cela1 |
C |
A |
15: 100,580,894 (GRCm39) |
A121S |
possibly damaging |
Het |
| Clip2 |
A |
G |
5: 134,528,963 (GRCm39) |
M822T |
probably benign |
Het |
| Coq8a |
G |
A |
1: 180,006,776 (GRCm39) |
T84I |
probably benign |
Het |
| Dars2 |
G |
A |
1: 160,877,527 (GRCm39) |
A390V |
probably benign |
Het |
| Dhx40 |
C |
T |
11: 86,661,056 (GRCm39) |
M744I |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,642,689 (GRCm39) |
I204V |
probably benign |
Het |
| Eftud2 |
A |
C |
11: 102,750,855 (GRCm39) |
F322V |
probably damaging |
Het |
| Eif4g2 |
G |
A |
7: 110,674,066 (GRCm39) |
A646V |
probably damaging |
Het |
| Faim2 |
T |
C |
15: 99,419,097 (GRCm39) |
T91A |
probably benign |
Het |
| Fancl |
A |
T |
11: 26,418,847 (GRCm39) |
I290F |
possibly damaging |
Het |
| Fermt3 |
A |
T |
19: 6,991,245 (GRCm39) |
Y253N |
possibly damaging |
Het |
| Fhip1a |
C |
A |
3: 85,579,565 (GRCm39) |
R880L |
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,417,402 (GRCm39) |
S2036T |
probably damaging |
Het |
| Gm10330 |
A |
T |
12: 23,829,911 (GRCm39) |
V90E |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,914,255 (GRCm39) |
E488G |
probably benign |
Het |
| Gpatch11 |
T |
A |
17: 79,148,446 (GRCm39) |
L128Q |
possibly damaging |
Het |
| Hoxd9 |
A |
G |
2: 74,529,539 (GRCm39) |
N265S |
possibly damaging |
Het |
| Igfn1 |
C |
T |
1: 135,887,520 (GRCm39) |
V2515M |
probably damaging |
Het |
| Itga2b |
A |
G |
11: 102,351,982 (GRCm39) |
L505P |
probably damaging |
Het |
| Klrg2 |
A |
G |
6: 38,613,491 (GRCm39) |
S171P |
probably benign |
Het |
| Lamtor5 |
A |
G |
3: 107,186,404 (GRCm39) |
T58A |
probably benign |
Het |
| Lgr6 |
G |
T |
1: 134,915,217 (GRCm39) |
C787* |
probably null |
Het |
| Madd |
A |
G |
2: 91,006,055 (GRCm39) |
F380S |
probably damaging |
Het |
| Magi1 |
A |
T |
6: 93,920,234 (GRCm39) |
H127Q |
possibly damaging |
Het |
| Morc2b |
C |
T |
17: 33,354,997 (GRCm39) |
G925D |
probably benign |
Het |
| Nalcn |
C |
T |
14: 123,518,523 (GRCm39) |
R1672H |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,224,493 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Obox5 |
A |
T |
7: 15,491,877 (GRCm39) |
E97D |
probably damaging |
Het |
| Parn |
C |
T |
16: 13,482,519 (GRCm39) |
|
probably null |
Het |
| Pip4k2b |
A |
T |
11: 97,613,272 (GRCm39) |
N241K |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,516,509 (GRCm39) |
V539A |
probably benign |
Het |
| Plpp7 |
A |
T |
2: 31,985,824 (GRCm39) |
M1L |
probably damaging |
Het |
| Pramel43 |
T |
C |
5: 94,762,843 (GRCm39) |
T60A |
probably benign |
Het |
| Pramel44 |
A |
G |
5: 94,771,917 (GRCm39) |
T16A |
probably benign |
Het |
| Prtg |
G |
A |
9: 72,716,929 (GRCm39) |
S90N |
probably benign |
Het |
| Rgs7bp |
G |
A |
13: 105,100,618 (GRCm39) |
T219M |
probably damaging |
Het |
| Scgb1b20 |
G |
A |
7: 33,072,998 (GRCm39) |
D69N |
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,379,619 (GRCm39) |
T1145A |
probably damaging |
Het |
| Slc49a3 |
G |
T |
5: 108,589,864 (GRCm39) |
P513T |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,009,165 (GRCm39) |
Q359R |
probably benign |
Het |
| Trmt5 |
C |
A |
12: 73,329,448 (GRCm39) |
D237Y |
probably damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,390 (GRCm39) |
I261F |
probably benign |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,322 (GRCm39) |
I292F |
unknown |
Het |
| Vmn2r66 |
T |
C |
7: 84,661,164 (GRCm39) |
D22G |
probably benign |
Het |
| Vwa3b |
T |
A |
1: 37,196,534 (GRCm39) |
|
probably null |
Het |
| Wbp4 |
T |
A |
14: 79,714,353 (GRCm39) |
D53V |
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,241,550 (GRCm39) |
I866V |
probably benign |
Het |
| Zan |
G |
A |
5: 137,462,254 (GRCm39) |
P975L |
unknown |
Het |
| Zdhhc19 |
G |
A |
16: 32,316,512 (GRCm39) |
R89Q |
probably benign |
Het |
| Zer1 |
G |
A |
2: 30,001,297 (GRCm39) |
T69I |
probably benign |
Het |
| Zfp827 |
C |
T |
8: 79,787,029 (GRCm39) |
T65I |
probably damaging |
Het |
| Zswim9 |
A |
G |
7: 12,994,983 (GRCm39) |
F391S |
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 |
|
|
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 |
13,532,571 (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 |
|
|
|
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'- AACTGATGGACCCTGAGCTAC -3'
(R):5'- AGCATGGGATACTTCTTGCC -3'
Sequencing Primer
(F):5'- ATATCAGTGCCTCCCATG -3'
(R):5'- GGATACTTCTTGCCAGCTTGACAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation