Incidental Mutation 'R4891:Maml3'
| ID |
377302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Maml3
|
| Ensembl Gene |
ENSMUSG00000061143 |
| Gene Name |
mastermind like transcriptional coactivator 3 |
| Synonyms |
|
| MMRRC Submission |
042496-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4891 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
51595032-52012740 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 51601931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000113677
Gene: ENSMUSG00000061143
| 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
|
| SMART Domains |
Protein: ENSMUSP00000112637
Gene: ENSMUSG00000061143
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
100% (39/39) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,166,072 (GRCm39) |
Y1088C |
probably damaging |
Het |
| Cercam |
C |
A |
2: 29,759,283 (GRCm39) |
|
probably benign |
Het |
| Chst1 |
A |
G |
2: 92,444,337 (GRCm39) |
T270A |
possibly damaging |
Het |
| Cluh |
C |
T |
11: 74,555,885 (GRCm39) |
T816I |
possibly damaging |
Het |
| Edn3 |
A |
G |
2: 174,603,525 (GRCm39) |
H91R |
probably benign |
Het |
| Fam135a |
A |
G |
1: 24,069,409 (GRCm39) |
S487P |
probably benign |
Het |
| Galns |
T |
A |
8: 123,325,895 (GRCm39) |
D212V |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,475,570 (GRCm39) |
V582A |
possibly damaging |
Het |
| Hs3st4 |
T |
A |
7: 123,996,052 (GRCm39) |
N239K |
possibly damaging |
Het |
| Kmt2b |
C |
T |
7: 30,276,186 (GRCm39) |
W1062* |
probably null |
Het |
| Lrp1 |
T |
C |
10: 127,377,621 (GRCm39) |
N4110S |
probably damaging |
Het |
| Mag |
T |
C |
7: 30,599,793 (GRCm39) |
H582R |
possibly damaging |
Het |
| Ndufa5 |
A |
G |
6: 24,519,246 (GRCm39) |
V26A |
possibly damaging |
Het |
| Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
| Or13j1 |
C |
T |
4: 43,706,194 (GRCm39) |
A125T |
probably damaging |
Het |
| Or51g2 |
T |
A |
7: 102,622,759 (GRCm39) |
I147L |
probably benign |
Het |
| Or5ac24 |
T |
A |
16: 59,165,834 (GRCm39) |
T77S |
possibly damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,716,957 (GRCm39) |
H347R |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 117,196,985 (GRCm39) |
|
probably null |
Het |
| Rab3gap2 |
C |
T |
1: 184,991,563 (GRCm39) |
A683V |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,249,496 (GRCm39) |
V240A |
probably damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,685 (GRCm39) |
V325E |
possibly damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
C |
T |
19: 4,788,497 (GRCm39) |
R1159C |
probably damaging |
Het |
| Stk36 |
A |
G |
1: 74,642,415 (GRCm39) |
D14G |
probably damaging |
Het |
| Thap2 |
T |
C |
10: 115,208,601 (GRCm39) |
K173R |
probably damaging |
Het |
| Themis2 |
G |
T |
4: 132,510,668 (GRCm39) |
Q625K |
probably benign |
Het |
| Vcpip1 |
G |
T |
1: 9,818,287 (GRCm39) |
P32Q |
unknown |
Het |
| Vmn1r229 |
A |
T |
17: 21,035,081 (GRCm39) |
T109S |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,640,661 (GRCm39) |
|
probably null |
Het |
| Wdr64 |
A |
G |
1: 175,526,345 (GRCm39) |
|
probably benign |
Het |
| Wiz |
A |
G |
17: 32,576,602 (GRCm39) |
S642P |
possibly damaging |
Het |
| Zdhhc1 |
C |
T |
8: 106,199,649 (GRCm39) |
R383Q |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,060,055 (GRCm39) |
S1194P |
probably 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 |
|
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 |
|
|
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'- CGAGCCGGGATTCTCTACTTTC -3'
(R):5'- ATTTTCTCAGCCTCGGCAGC -3'
Sequencing Primer
(F):5'- GGGATTCTCTACTTTCCTTCCCCG -3'
(R):5'- CTCGGCAGCATTGAACATG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation