Incidental Mutation 'R4094:Maml2'
| ID |
317804 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Maml2
|
| Ensembl Gene |
ENSMUSG00000031925 |
| Gene Name |
mastermind like transcriptional coactivator 2 |
| Synonyms |
|
| MMRRC Submission |
041628-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4094 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
13298306-13620684 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 13531449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 221
(S221N)
|
| 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 |
probably benign
Transcript: ENSMUST00000159294
AA Change: S221N
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: S221N
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175351
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,071,192 (GRCm39) |
C1500R |
probably damaging |
Het |
| Amz1 |
A |
T |
5: 140,737,921 (GRCm39) |
M93L |
probably damaging |
Het |
| Asb18 |
A |
T |
1: 89,942,147 (GRCm39) |
N51K |
probably damaging |
Het |
| Bcl11b |
G |
T |
12: 107,883,094 (GRCm39) |
P335Q |
probably damaging |
Het |
| Bsn |
A |
C |
9: 107,991,069 (GRCm39) |
V1561G |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,679,685 (GRCm39) |
N49K |
probably damaging |
Het |
| Cct8 |
T |
G |
16: 87,284,516 (GRCm39) |
I283L |
possibly damaging |
Het |
| Cdc25b |
A |
G |
2: 131,031,037 (GRCm39) |
M121V |
probably benign |
Het |
| Cpne4 |
A |
G |
9: 104,563,734 (GRCm39) |
D37G |
probably damaging |
Het |
| Cym |
A |
G |
3: 107,121,582 (GRCm39) |
S237P |
probably benign |
Het |
| Dhx35 |
T |
A |
2: 158,684,276 (GRCm39) |
I517N |
probably damaging |
Het |
| Ehf |
T |
C |
2: 103,121,095 (GRCm39) |
|
probably benign |
Het |
| Erp29 |
A |
G |
5: 121,590,345 (GRCm39) |
|
probably benign |
Het |
| Fgd6 |
C |
A |
10: 93,879,296 (GRCm39) |
P50Q |
probably damaging |
Het |
| Fhip1b |
T |
C |
7: 105,037,425 (GRCm39) |
D386G |
probably damaging |
Het |
| Foxn3 |
G |
T |
12: 99,162,700 (GRCm39) |
D400E |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,615,843 (GRCm39) |
Y1031C |
probably damaging |
Het |
| Gna13 |
T |
A |
11: 109,287,242 (GRCm39) |
I355N |
probably damaging |
Het |
| Hgs |
T |
A |
11: 120,359,859 (GRCm39) |
L21* |
probably null |
Het |
| Htr2a |
G |
A |
14: 74,943,789 (GRCm39) |
M456I |
probably benign |
Het |
| Itga2 |
T |
C |
13: 115,007,161 (GRCm39) |
D389G |
probably benign |
Het |
| Kdm1b |
T |
C |
13: 47,216,496 (GRCm39) |
C289R |
probably damaging |
Het |
| Kdm4c |
T |
A |
4: 74,229,915 (GRCm39) |
D237E |
probably benign |
Het |
| Lilrb4b |
A |
T |
10: 51,357,506 (GRCm39) |
E114V |
probably damaging |
Het |
| Loxl1 |
G |
A |
9: 58,219,739 (GRCm39) |
T144I |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,353,062 (GRCm39) |
R1784Q |
probably benign |
Het |
| Map3k1 |
A |
G |
13: 111,892,696 (GRCm39) |
M853T |
possibly damaging |
Het |
| Micu3 |
T |
G |
8: 40,788,929 (GRCm39) |
S147A |
probably null |
Het |
| Nccrp1 |
T |
C |
7: 28,243,651 (GRCm39) |
Y261C |
possibly damaging |
Het |
| Or51aa5 |
T |
A |
7: 103,167,244 (GRCm39) |
I116F |
possibly damaging |
Het |
| Or5m5 |
A |
G |
2: 85,814,562 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or8k18 |
T |
C |
2: 86,085,674 (GRCm39) |
D121G |
probably damaging |
Het |
| Or8s10 |
T |
C |
15: 98,335,563 (GRCm39) |
L71P |
probably damaging |
Het |
| Pclo |
C |
A |
5: 14,905,659 (GRCm39) |
T4963N |
unknown |
Het |
| Pdxk |
T |
C |
10: 78,300,644 (GRCm39) |
H13R |
probably damaging |
Het |
| Plcg1 |
A |
G |
2: 160,589,761 (GRCm39) |
E95G |
probably damaging |
Het |
| Ppargc1a |
T |
C |
5: 51,647,406 (GRCm39) |
N276S |
possibly damaging |
Het |
| Prr12 |
A |
G |
7: 44,697,371 (GRCm39) |
L848P |
unknown |
Het |
| Ptcd2 |
A |
G |
13: 99,468,957 (GRCm39) |
I202T |
probably damaging |
Het |
| Rab27a |
A |
C |
9: 72,982,826 (GRCm39) |
I44L |
probably damaging |
Het |
| Rbfox2 |
A |
T |
15: 77,016,925 (GRCm39) |
S82T |
probably damaging |
Het |
| Rsbn1 |
T |
A |
3: 103,835,974 (GRCm39) |
F337L |
probably damaging |
Het |
| Samd8 |
T |
C |
14: 21,843,113 (GRCm39) |
I414T |
probably damaging |
Het |
| Sema3e |
A |
G |
5: 14,283,704 (GRCm39) |
I478V |
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,637,805 (GRCm39) |
S821G |
possibly damaging |
Het |
| Slc2a3 |
A |
T |
6: 122,712,527 (GRCm39) |
I239N |
probably benign |
Het |
| Spc25 |
G |
A |
2: 69,032,975 (GRCm39) |
S50L |
probably damaging |
Het |
| St8sia4 |
A |
T |
1: 95,555,411 (GRCm39) |
S206R |
possibly damaging |
Het |
| Syngr3 |
G |
A |
17: 24,908,817 (GRCm39) |
|
probably benign |
Het |
| Tigd4 |
A |
G |
3: 84,501,947 (GRCm39) |
D288G |
probably damaging |
Het |
| Trim34b |
A |
G |
7: 103,983,795 (GRCm39) |
M251V |
probably benign |
Het |
| Ttll5 |
A |
T |
12: 86,003,376 (GRCm39) |
R214* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,730,860 (GRCm39) |
|
probably benign |
Het |
| Vmp1 |
A |
G |
11: 86,534,406 (GRCm39) |
I167T |
probably benign |
Het |
| Zfp64 |
T |
C |
2: 168,767,855 (GRCm39) |
T586A |
probably benign |
Het |
| Zfp943 |
T |
A |
17: 22,211,963 (GRCm39) |
C350S |
probably damaging |
Het |
| Zscan4f |
A |
T |
7: 11,135,185 (GRCm39) |
N197I |
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 |
|
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 |
|
|
|
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'- TTTGTCTTTCAGCTCCAGGG -3'
(R):5'- GTTGATCTCCAGGGTCATCTC -3'
Sequencing Primer
(F):5'- CAGCTCCAGGGCTCTTTGAAAAG -3'
(R):5'- AGGGTCATCTCCAAACCTATTAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation