Incidental Mutation 'R5047:Maml3'
| ID |
394404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Maml3
|
| Ensembl Gene |
ENSMUSG00000061143 |
| Gene Name |
mastermind like transcriptional coactivator 3 |
| Synonyms |
|
| MMRRC Submission |
042637-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5047 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
51595032-52012740 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 51598262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 807
(D807E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118075]
[ENSMUST00000121440]
|
| AlphaFold |
D4QGC2 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000099104
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118075
AA Change: D161E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000113677
Gene: ENSMUSG00000061143
AA Change: D161E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
68 |
N/A |
INTRINSIC |
|
coiled coil region
|
90 |
132 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121440
AA Change: D807E
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112637
Gene: ENSMUSG00000061143
AA Change: D807E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
12 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
65 |
N/A |
INTRINSIC |
|
MamL-1
|
67 |
126 |
6.54e-30 |
SMART |
|
low complexity region
|
436 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
459 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
714 |
N/A |
INTRINSIC |
|
coiled coil region
|
736 |
778 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193403
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.5%
|
| Validation Efficiency |
96% (49/51) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no gross abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
A |
T |
14: 44,406,698 (GRCm39) |
M117K |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,886,922 (GRCm39) |
A1020T |
probably damaging |
Het |
| Armh4 |
G |
T |
14: 50,007,895 (GRCm39) |
A526D |
probably damaging |
Het |
| Atg3 |
C |
A |
16: 44,998,595 (GRCm39) |
D132E |
probably benign |
Het |
| Blzf1 |
A |
G |
1: 164,134,037 (GRCm39) |
M4T |
possibly damaging |
Het |
| Cdon |
G |
A |
9: 35,389,935 (GRCm39) |
R863Q |
probably damaging |
Het |
| Cyp2d40 |
C |
T |
15: 82,644,460 (GRCm39) |
R255H |
unknown |
Het |
| Evi5 |
T |
C |
5: 107,969,740 (GRCm39) |
K57R |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,567 (GRCm39) |
E253G |
probably damaging |
Het |
| Fcgr1 |
A |
T |
3: 96,193,200 (GRCm39) |
F266I |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gm10142 |
G |
T |
10: 77,551,996 (GRCm39) |
C119F |
probably damaging |
Het |
| Gpr63 |
A |
G |
4: 25,008,202 (GRCm39) |
S309G |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,832,745 (GRCm39) |
Q137* |
probably null |
Het |
| Jmy |
T |
A |
13: 93,578,080 (GRCm39) |
H696L |
possibly damaging |
Het |
| Kif13a |
T |
C |
13: 46,941,561 (GRCm39) |
H972R |
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,050,276 (GRCm39) |
Q296* |
probably null |
Het |
| Lmf1 |
C |
T |
17: 25,850,812 (GRCm39) |
|
probably benign |
Het |
| Lpp |
T |
C |
16: 24,790,596 (GRCm39) |
C352R |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,599,881 (GRCm39) |
|
probably benign |
Het |
| Mdc1 |
T |
A |
17: 36,158,736 (GRCm39) |
V372D |
probably benign |
Het |
| Mst1 |
C |
A |
9: 107,961,508 (GRCm39) |
H579Q |
probably benign |
Het |
| Or11g24 |
T |
C |
14: 50,662,696 (GRCm39) |
F240S |
probably damaging |
Het |
| Or1r1 |
T |
C |
11: 73,875,204 (GRCm39) |
T77A |
probably damaging |
Het |
| Or4a39 |
A |
G |
2: 89,237,057 (GRCm39) |
V122A |
probably damaging |
Het |
| Or8d1 |
G |
A |
9: 38,766,585 (GRCm39) |
V76I |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
| Phlpp2 |
A |
T |
8: 110,640,251 (GRCm39) |
H472L |
probably benign |
Het |
| Plscr3 |
A |
G |
11: 69,740,917 (GRCm39) |
|
probably null |
Het |
| Rab7 |
A |
T |
6: 87,982,205 (GRCm39) |
|
probably null |
Het |
| Rad50 |
A |
G |
11: 53,565,523 (GRCm39) |
|
probably null |
Het |
| Scgb1b20 |
A |
G |
7: 33,072,737 (GRCm39) |
|
probably null |
Het |
| Scn9a |
A |
C |
2: 66,392,824 (GRCm39) |
L256R |
probably damaging |
Het |
| Spag1 |
G |
T |
15: 36,195,588 (GRCm39) |
Q260H |
probably damaging |
Het |
| Tatdn3 |
T |
A |
1: 190,778,475 (GRCm39) |
I239F |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,964,986 (GRCm39) |
S578P |
possibly damaging |
Het |
| Top3b |
A |
G |
16: 16,709,282 (GRCm39) |
T657A |
probably benign |
Het |
| Tstd3 |
A |
G |
4: 21,759,621 (GRCm39) |
|
probably null |
Het |
| Ttc4 |
A |
T |
4: 106,525,435 (GRCm39) |
L233H |
probably damaging |
Het |
| Vmn2r130 |
T |
A |
17: 23,282,794 (GRCm39) |
M158K |
probably benign |
Het |
| Yeats2 |
A |
T |
16: 20,027,215 (GRCm39) |
Q822L |
probably damaging |
Het |
| Zfp976 |
A |
T |
7: 42,262,843 (GRCm39) |
C331* |
probably null |
Het |
|
| Other mutations in Maml3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Maml3
|
APN |
3 |
51,598,125 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01138:Maml3
|
APN |
3 |
51,597,979 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02173:Maml3
|
APN |
3 |
51,598,208 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02220:Maml3
|
APN |
3 |
51,597,639 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02725:Maml3
|
APN |
3 |
52,011,195 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02838:Maml3
|
APN |
3 |
51,597,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0683:Maml3
|
UTSW |
3 |
51,764,173 (GRCm39) |
nonsense |
probably null |
|
|
R1966:Maml3
|
UTSW |
3 |
52,011,560 (GRCm39) |
missense |
unknown |
|
|
R1980:Maml3
|
UTSW |
3 |
52,011,473 (GRCm39) |
missense |
unknown |
|
|
R1989:Maml3
|
UTSW |
3 |
51,605,179 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1992:Maml3
|
UTSW |
3 |
51,598,178 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2047:Maml3
|
UTSW |
3 |
51,597,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Maml3
|
UTSW |
3 |
51,598,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2876:Maml3
|
UTSW |
3 |
51,597,480 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3176:Maml3
|
UTSW |
3 |
51,764,351 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3276:Maml3
|
UTSW |
3 |
51,764,351 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4191:Maml3
|
UTSW |
3 |
51,597,390 (GRCm39) |
missense |
probably benign |
|
|
R4576:Maml3
|
UTSW |
3 |
51,763,927 (GRCm39) |
nonsense |
probably null |
|
|
R4609:Maml3
|
UTSW |
3 |
51,763,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4628:Maml3
|
UTSW |
3 |
51,703,891 (GRCm39) |
intron |
probably benign |
|
|
R4734:Maml3
|
UTSW |
3 |
51,597,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4776:Maml3
|
UTSW |
3 |
51,763,953 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4868:Maml3
|
UTSW |
3 |
52,011,345 (GRCm39) |
nonsense |
probably null |
|
|
R4889:Maml3
|
UTSW |
3 |
51,601,931 (GRCm39) |
intron |
probably benign |
|
|
R4891:Maml3
|
UTSW |
3 |
51,601,931 (GRCm39) |
intron |
probably benign |
|
|
R4947:Maml3
|
UTSW |
3 |
51,763,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5011:Maml3
|
UTSW |
3 |
51,598,196 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5344:Maml3
|
UTSW |
3 |
52,011,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5743:Maml3
|
UTSW |
3 |
52,011,553 (GRCm39) |
missense |
unknown |
|
|
R6724:Maml3
|
UTSW |
3 |
51,763,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6885:Maml3
|
UTSW |
3 |
51,605,000 (GRCm39) |
|
|
|
|
R6938:Maml3
|
UTSW |
3 |
52,011,159 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7581:Maml3
|
UTSW |
3 |
51,764,189 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7895:Maml3
|
UTSW |
3 |
51,605,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8059:Maml3
|
UTSW |
3 |
51,764,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8404:Maml3
|
UTSW |
3 |
51,598,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8551:Maml3
|
UTSW |
3 |
51,764,488 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8987:Maml3
|
UTSW |
3 |
51,597,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9291:Maml3
|
UTSW |
3 |
51,764,328 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9548:Maml3
|
UTSW |
3 |
51,763,791 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
RF022:Maml3
|
UTSW |
3 |
51,764,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1192:Maml3
|
UTSW |
3 |
51,763,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAACATTTGGGTCATTCCTG -3'
(R):5'- GCTGGGAATCAGGTGACTTTC -3'
Sequencing Primer
(F):5'- AACATTTGGGTCATTCCTGTGTTC -3'
(R):5'- CATTTTGCAAAATGTTCACAACTCG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation