Incidental Mutation 'R6998:Maml2'
| ID |
544347 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Maml2
|
| Ensembl Gene |
ENSMUSG00000031925 |
| Gene Name |
mastermind like transcriptional coactivator 2 |
| Synonyms |
|
| MMRRC Submission |
045010-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6998 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
13298306-13620684 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 13532481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034401
(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: A565V
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
A |
G |
3: 98,070,026 (GRCm39) |
R620G |
probably benign |
Het |
| Adcy1 |
A |
C |
11: 7,029,026 (GRCm39) |
N259H |
probably damaging |
Het |
| Ahctf1 |
G |
A |
1: 179,598,480 (GRCm39) |
R2* |
probably null |
Het |
| Akr1c21 |
A |
G |
13: 4,633,850 (GRCm39) |
I306M |
probably benign |
Het |
| Alg9 |
T |
A |
9: 50,700,921 (GRCm39) |
S230R |
possibly damaging |
Het |
| Armt1 |
T |
A |
10: 4,403,937 (GRCm39) |
C341S |
probably benign |
Het |
| Aspg |
T |
A |
12: 112,078,628 (GRCm39) |
L29M |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,397,210 (GRCm39) |
T934I |
probably damaging |
Het |
| C1rl |
T |
C |
6: 124,485,861 (GRCm39) |
S411P |
probably damaging |
Het |
| Card14 |
A |
G |
11: 119,213,725 (GRCm39) |
E224G |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,883,111 (GRCm39) |
H1587R |
probably damaging |
Het |
| Ccp110 |
A |
G |
7: 118,332,120 (GRCm39) |
T963A |
possibly damaging |
Het |
| Cdk11b |
G |
A |
4: 155,732,800 (GRCm39) |
W546* |
probably null |
Het |
| Cyp8b1 |
T |
C |
9: 121,745,059 (GRCm39) |
N91S |
probably benign |
Het |
| Dab2 |
G |
T |
15: 6,454,130 (GRCm39) |
M213I |
possibly damaging |
Het |
| Decr1 |
A |
G |
4: 15,930,960 (GRCm39) |
V124A |
probably damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,748,687 (GRCm39) |
I411F |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,825,611 (GRCm39) |
I164V |
probably null |
Het |
| Fndc7 |
G |
A |
3: 108,783,964 (GRCm39) |
A215V |
probably benign |
Het |
| Garem2 |
T |
C |
5: 30,319,168 (GRCm39) |
M210T |
possibly damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Ighv1-52 |
C |
A |
12: 115,109,112 (GRCm39) |
A115S |
probably benign |
Het |
| Igkv6-13 |
A |
G |
6: 70,434,573 (GRCm39) |
S91P |
probably damaging |
Het |
| Ints8 |
T |
A |
4: 11,204,537 (GRCm39) |
E973V |
possibly damaging |
Het |
| Itga3 |
T |
C |
11: 94,942,288 (GRCm39) |
K972R |
probably benign |
Het |
| Klhl33 |
A |
T |
14: 51,130,478 (GRCm39) |
F339I |
probably benign |
Het |
| Krt79 |
T |
C |
15: 101,846,307 (GRCm39) |
M214V |
probably benign |
Het |
| Lgsn |
A |
T |
1: 31,243,274 (GRCm39) |
H452L |
probably benign |
Het |
| Limd2 |
C |
T |
11: 106,049,516 (GRCm39) |
G124D |
probably benign |
Het |
| Luzp1 |
T |
C |
4: 136,270,755 (GRCm39) |
S993P |
probably damaging |
Het |
| Mbtd1 |
A |
T |
11: 93,815,438 (GRCm39) |
H342L |
probably damaging |
Het |
| Mfhas1 |
C |
A |
8: 36,058,510 (GRCm39) |
P995Q |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,372,451 (GRCm39) |
F3399S |
possibly damaging |
Het |
| Napb |
T |
C |
2: 148,542,345 (GRCm39) |
Y205C |
probably damaging |
Het |
| Odf2 |
G |
T |
2: 29,802,629 (GRCm39) |
A298S |
probably benign |
Het |
| Or11g7 |
A |
T |
14: 50,690,890 (GRCm39) |
Y127F |
probably benign |
Het |
| Or4s2b |
A |
T |
2: 88,508,852 (GRCm39) |
I218F |
probably benign |
Het |
| Or8k35 |
A |
T |
2: 86,424,488 (GRCm39) |
M228K |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,450,476 (GRCm39) |
D1124G |
probably benign |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pik3c2b |
T |
G |
1: 133,030,110 (GRCm39) |
I1457S |
probably benign |
Het |
| Pole2 |
T |
C |
12: 69,260,680 (GRCm39) |
T167A |
possibly damaging |
Het |
| Rfx7 |
T |
A |
9: 72,525,787 (GRCm39) |
S992R |
probably damaging |
Het |
| Ryr2 |
G |
T |
13: 11,727,052 (GRCm39) |
S2436R |
probably damaging |
Het |
| Sgo2a |
A |
G |
1: 58,055,799 (GRCm39) |
D661G |
probably damaging |
Het |
| Sh3glb2 |
T |
A |
2: 30,245,333 (GRCm39) |
T49S |
probably damaging |
Het |
| Slc16a10 |
T |
C |
10: 39,932,499 (GRCm39) |
K354R |
possibly damaging |
Het |
| Slc6a6 |
C |
A |
6: 91,729,419 (GRCm39) |
T568K |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,050,633 (GRCm39) |
T2319A |
probably damaging |
Het |
| Tbl1xr1 |
T |
A |
3: 22,233,454 (GRCm39) |
Y15N |
probably damaging |
Het |
| Thyn1 |
T |
C |
9: 26,917,738 (GRCm39) |
S160P |
probably damaging |
Het |
| Tshz1 |
A |
T |
18: 84,033,966 (GRCm39) |
D147E |
probably benign |
Het |
| Vmn2r50 |
T |
G |
7: 9,771,684 (GRCm39) |
R672S |
probably benign |
Het |
| Zfp663 |
A |
T |
2: 165,195,922 (GRCm39) |
I99N |
possibly 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 |
|
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'- CGGCCAATTACACGTACAAGG -3'
(R):5'- ATAAAGCATGGGTGGGTTGC -3'
Sequencing Primer
(F):5'- TTACACGTACAAGGCCAGC -3'
(R):5'- TGCTGAGCTGTCAATGAACC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation