Incidental Mutation 'R7955:Msl2'
| ID |
649773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msl2
|
| Ensembl Gene |
ENSMUSG00000066415 |
| Gene Name |
MSL complex subunit 2 |
| Synonyms |
Msl2l1, E130103E02Rik, Rnf184 |
| MMRRC Submission |
045999-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R7955 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
100956154-100981999 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100979354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 576
(D576G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066773]
[ENSMUST00000075941]
[ENSMUST00000085177]
[ENSMUST00000189616]
|
| AlphaFold |
Q69ZF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066773
|
| SMART Domains |
Protein: ENSMUSP00000069688
Gene: ENSMUSG00000043154
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EFh
|
140 |
169 |
1e-9 |
BLAST |
|
Pfam:EF-hand_7
|
282 |
380 |
2.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075941
|
| SMART Domains |
Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
248 |
266 |
N/A |
INTRINSIC |
|
Blast:EFh
|
760 |
789 |
1e-9 |
BLAST |
|
Pfam:EF-hand_7
|
902 |
1000 |
2.5e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085177
AA Change: D576G
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000082270
Gene: ENSMUSG00000066415
AA Change: D576G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-RING_10
|
42 |
111 |
2.8e-36 |
PFAM |
|
low complexity region
|
265 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
424 |
N/A |
INTRINSIC |
|
CXC
|
457 |
504 |
1.6e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189616
|
| SMART Domains |
Protein: ENSMUSP00000139396
Gene: ENSMUSG00000066415
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4B86|L
|
1 |
47 |
2e-28 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts10 |
T |
A |
17: 33,764,613 (GRCm39) |
V711D |
probably damaging |
Het |
| Adgrg5 |
G |
A |
8: 95,664,325 (GRCm39) |
V312M |
|
Het |
| Ankrd53 |
A |
G |
6: 83,744,845 (GRCm39) |
T352A |
probably benign |
Het |
| Ano4 |
T |
A |
10: 88,831,088 (GRCm39) |
M512L |
probably null |
Het |
| AW551984 |
A |
G |
9: 39,507,960 (GRCm39) |
F392S |
probably damaging |
Het |
| Chrna7 |
T |
G |
7: 62,753,541 (GRCm39) |
K326T |
possibly damaging |
Het |
| Cldnd2 |
G |
T |
7: 43,091,120 (GRCm39) |
L17F |
possibly damaging |
Het |
| Clvs2 |
T |
C |
10: 33,471,808 (GRCm39) |
N166D |
possibly damaging |
Het |
| Cox10 |
A |
T |
11: 63,884,750 (GRCm39) |
N218K |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,082 (GRCm39) |
R175H |
probably damaging |
Het |
| Daxx |
T |
A |
17: 34,131,229 (GRCm39) |
Y385* |
probably null |
Het |
| Dnmbp |
T |
C |
19: 43,890,762 (GRCm39) |
E335G |
probably benign |
Het |
| Erich3 |
C |
T |
3: 154,444,951 (GRCm39) |
Q376* |
probably null |
Het |
| Flot2 |
A |
G |
11: 77,949,769 (GRCm39) |
|
probably null |
Het |
| Ganc |
A |
G |
2: 120,261,181 (GRCm39) |
T289A |
probably damaging |
Het |
| Gm19668 |
G |
A |
10: 77,634,630 (GRCm39) |
T113I |
unknown |
Het |
| Gpm6a |
A |
G |
8: 55,511,840 (GRCm39) |
N238S |
probably damaging |
Het |
| Hps1 |
T |
C |
19: 42,759,221 (GRCm39) |
T124A |
probably damaging |
Het |
| Larp4b |
T |
C |
13: 9,186,816 (GRCm39) |
V48A |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,594,070 (GRCm39) |
H205R |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,452,875 (GRCm39) |
S588R |
probably damaging |
Het |
| Mocos |
A |
G |
18: 24,799,216 (GRCm39) |
D150G |
probably damaging |
Het |
| Mybpc3 |
A |
G |
2: 90,956,401 (GRCm39) |
|
probably null |
Het |
| Myo3b |
A |
T |
2: 69,925,623 (GRCm39) |
Y58F |
probably benign |
Het |
| Ndst3 |
T |
G |
3: 123,400,586 (GRCm39) |
K440T |
probably benign |
Het |
| Ndst4 |
T |
A |
3: 125,231,831 (GRCm39) |
Y133* |
probably null |
Het |
| Nrcam |
G |
A |
12: 44,631,737 (GRCm39) |
V1097M |
probably benign |
Het |
| Or6z1 |
A |
G |
7: 6,505,078 (GRCm39) |
I49T |
possibly damaging |
Het |
| Rabep1 |
A |
G |
11: 70,808,267 (GRCm39) |
T408A |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,507,322 (GRCm39) |
D609E |
probably damaging |
Het |
| Sh2d4a |
A |
G |
8: 68,781,907 (GRCm39) |
K172E |
probably benign |
Het |
| Slc12a9 |
A |
C |
5: 137,323,808 (GRCm39) |
L369R |
probably damaging |
Het |
| Slc30a1 |
T |
C |
1: 191,639,395 (GRCm39) |
C93R |
probably damaging |
Het |
| Tex35 |
C |
T |
1: 156,927,742 (GRCm39) |
D143N |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 129,880,400 (GRCm39) |
Y402F |
probably benign |
Het |
| Tmem17 |
T |
A |
11: 22,468,490 (GRCm39) |
I143K |
possibly damaging |
Het |
| Tmprss11f |
A |
C |
5: 86,692,682 (GRCm39) |
S81A |
probably benign |
Het |
| Trp53bp1 |
G |
A |
2: 121,066,225 (GRCm39) |
P834S |
possibly damaging |
Het |
| Trpm4 |
C |
A |
7: 44,968,683 (GRCm39) |
G417W |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,831,654 (GRCm39) |
R1506S |
probably benign |
Het |
| Tspan18 |
A |
G |
2: 93,040,305 (GRCm39) |
V150A |
possibly damaging |
Het |
| Ttc39d |
T |
C |
17: 80,523,352 (GRCm39) |
F4L |
probably benign |
Het |
| Zdhhc4 |
A |
T |
5: 143,307,619 (GRCm39) |
L134H |
probably damaging |
Het |
| Zfp407 |
A |
T |
18: 84,577,416 (GRCm39) |
S1232R |
probably benign |
Het |
| Zswim2 |
A |
C |
2: 83,747,227 (GRCm39) |
F353V |
probably benign |
Het |
|
| Other mutations in Msl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00543:Msl2
|
APN |
9 |
100,978,269 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02496:Msl2
|
APN |
9 |
100,977,854 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02798:Msl2
|
APN |
9 |
100,957,430 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03235:Msl2
|
APN |
9 |
100,977,967 (GRCm39) |
missense |
probably benign |
0.03 |
|
anguished
|
UTSW |
9 |
100,979,174 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Appalled
|
UTSW |
9 |
100,978,042 (GRCm39) |
missense |
probably benign |
|
|
Crestfallen
|
UTSW |
9 |
100,978,290 (GRCm39) |
nonsense |
probably null |
|
|
R0497:Msl2
|
UTSW |
9 |
100,978,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1288:Msl2
|
UTSW |
9 |
100,979,308 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2015:Msl2
|
UTSW |
9 |
100,957,304 (GRCm39) |
start gained |
probably benign |
|
|
R2038:Msl2
|
UTSW |
9 |
100,979,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2238:Msl2
|
UTSW |
9 |
100,978,569 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4393:Msl2
|
UTSW |
9 |
100,978,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4827:Msl2
|
UTSW |
9 |
100,979,350 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5290:Msl2
|
UTSW |
9 |
100,978,606 (GRCm39) |
splice site |
probably null |
|
|
R5567:Msl2
|
UTSW |
9 |
100,978,936 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5934:Msl2
|
UTSW |
9 |
100,979,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5940:Msl2
|
UTSW |
9 |
100,978,290 (GRCm39) |
nonsense |
probably null |
|
|
R6339:Msl2
|
UTSW |
9 |
100,978,949 (GRCm39) |
missense |
probably benign |
|
|
R6736:Msl2
|
UTSW |
9 |
100,978,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6950:Msl2
|
UTSW |
9 |
100,979,174 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6971:Msl2
|
UTSW |
9 |
100,978,042 (GRCm39) |
missense |
probably benign |
|
|
R7022:Msl2
|
UTSW |
9 |
100,957,335 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7408:Msl2
|
UTSW |
9 |
100,979,316 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8069:Msl2
|
UTSW |
9 |
100,978,159 (GRCm39) |
missense |
probably benign |
|
|
R8281:Msl2
|
UTSW |
9 |
100,978,894 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8437:Msl2
|
UTSW |
9 |
100,978,167 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9162:Msl2
|
UTSW |
9 |
100,978,928 (GRCm39) |
missense |
probably benign |
|
|
R9675:Msl2
|
UTSW |
9 |
100,978,555 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTCCTATATGGCCAATGGG -3'
(R):5'- ATCTGCAAACTATTTCCCCGAC -3'
Sequencing Primer
(F):5'- CATTTGCGGTGCCAGAAAAG -3'
(R):5'- TGCAAACTATTTCCCCGACACTAAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation