Incidental Mutation 'R4191:Maml3'
ID |
318301 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Maml3
|
Ensembl Gene |
ENSMUSG00000061143 |
Gene Name |
mastermind like transcriptional coactivator 3 |
Synonyms |
|
MMRRC Submission |
041022-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4191 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
51595032-52012740 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51597390 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1098
(V1098A)
|
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: V452A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113677 Gene: ENSMUSG00000061143 AA Change: V452A
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 |
probably benign
Transcript: ENSMUST00000121440
AA Change: V1098A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000112637 Gene: ENSMUSG00000061143 AA Change: V1098A
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
95% (57/60) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
A |
G |
16: 14,207,728 (GRCm39) |
T22A |
probably damaging |
Het |
Ache |
A |
T |
5: 137,289,334 (GRCm39) |
I347F |
probably damaging |
Het |
Adgrl1 |
C |
G |
8: 84,665,569 (GRCm39) |
R1464G |
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,377,380 (GRCm39) |
D422G |
probably damaging |
Het |
Cdx1 |
C |
T |
18: 61,153,510 (GRCm39) |
S176N |
possibly damaging |
Het |
Cimip3 |
C |
T |
17: 47,747,562 (GRCm39) |
R61H |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,710,667 (GRCm39) |
D1536G |
probably damaging |
Het |
Cyct |
G |
T |
2: 76,184,535 (GRCm39) |
P72Q |
probably damaging |
Het |
Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
Disp1 |
G |
T |
1: 182,870,737 (GRCm39) |
A561E |
probably damaging |
Het |
Donson |
C |
A |
16: 91,485,480 (GRCm39) |
A41S |
possibly damaging |
Het |
Gldc |
T |
C |
19: 30,123,058 (GRCm39) |
E279G |
probably damaging |
Het |
Gpr160 |
A |
T |
3: 30,950,863 (GRCm39) |
I312F |
possibly damaging |
Het |
H2-Eb2 |
G |
A |
17: 34,563,529 (GRCm39) |
|
probably benign |
Het |
Igdcc4 |
A |
G |
9: 65,031,433 (GRCm39) |
Q457R |
probably benign |
Het |
Irf2bp2 |
T |
C |
8: 127,320,084 (GRCm39) |
D31G |
probably damaging |
Het |
Klrb1 |
T |
A |
6: 128,690,597 (GRCm39) |
K42* |
probably null |
Het |
Lrrfip1 |
A |
T |
1: 91,038,121 (GRCm39) |
E446D |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
Mrgpra4 |
T |
C |
7: 47,630,867 (GRCm39) |
S245G |
probably benign |
Het |
Mybbp1a |
A |
G |
11: 72,342,113 (GRCm39) |
E1283G |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,068,226 (GRCm39) |
S285G |
possibly damaging |
Het |
Myh7b |
A |
G |
2: 155,475,319 (GRCm39) |
D1876G |
probably benign |
Het |
Nr4a2 |
T |
C |
2: 57,002,391 (GRCm39) |
S21G |
probably damaging |
Het |
Or10d1c |
T |
A |
9: 38,894,313 (GRCm39) |
Q9L |
probably benign |
Het |
Or2y14 |
T |
A |
11: 49,404,639 (GRCm39) |
M58K |
probably damaging |
Het |
Or7g25 |
A |
G |
9: 19,160,383 (GRCm39) |
V104A |
probably benign |
Het |
Or8c11 |
T |
A |
9: 38,289,648 (GRCm39) |
M157K |
probably damaging |
Het |
Or8k18 |
C |
A |
2: 86,085,666 (GRCm39) |
V124L |
probably benign |
Het |
Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
Pcsk6 |
T |
C |
7: 65,675,056 (GRCm39) |
S476P |
probably damaging |
Het |
Pex10 |
T |
C |
4: 155,152,362 (GRCm39) |
|
probably null |
Het |
Pgf |
T |
C |
12: 85,218,561 (GRCm39) |
D63G |
probably benign |
Het |
Piwil4 |
A |
G |
9: 14,626,296 (GRCm39) |
S465P |
probably damaging |
Het |
Plcb1 |
A |
C |
2: 135,187,010 (GRCm39) |
H759P |
probably damaging |
Het |
Pmfbp1 |
A |
T |
8: 110,254,260 (GRCm39) |
M432L |
probably benign |
Het |
Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
Rmnd1 |
A |
T |
10: 4,360,809 (GRCm39) |
|
probably benign |
Het |
Ro60 |
T |
C |
1: 143,646,524 (GRCm39) |
I74V |
probably benign |
Het |
Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,046,601 (GRCm39) |
C3510Y |
possibly damaging |
Het |
Tanc1 |
A |
G |
2: 59,669,357 (GRCm39) |
I1274V |
probably damaging |
Het |
Tep1 |
T |
C |
14: 51,074,263 (GRCm39) |
E1874G |
probably damaging |
Het |
Tgfbr2 |
T |
C |
9: 115,939,009 (GRCm39) |
T298A |
probably damaging |
Het |
Tlk1 |
G |
A |
2: 70,555,891 (GRCm39) |
R423C |
probably damaging |
Het |
Trp53rkb |
T |
C |
2: 166,637,395 (GRCm39) |
I117T |
probably damaging |
Het |
Ttll9 |
A |
G |
2: 152,844,927 (GRCm39) |
T432A |
probably benign |
Het |
Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
Zfp112 |
A |
G |
7: 23,825,568 (GRCm39) |
D512G |
probably benign |
Het |
Zfyve19 |
A |
G |
2: 119,041,312 (GRCm39) |
K76R |
possibly damaging |
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 |
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 |
R5047:Maml3
|
UTSW |
3 |
51,598,262 (GRCm39) |
missense |
possibly damaging |
0.88 |
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'- CAGCCGGATGTCATGTTCTC -3'
(R):5'- CATTGGTCATGCCTGGTCTG -3'
Sequencing Primer
(F):5'- AGCCGGATGTCATGTTCTCAATTTAC -3'
(R):5'- TCTGAGCCAGGGTGTCC -3'
|
Posted On |
2015-06-10 |