Incidental Mutation 'IGL00543:Msl2'
ID |
332576 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Msl2
|
Ensembl Gene |
ENSMUSG00000066415 |
Gene Name |
MSL complex subunit 2 |
Synonyms |
Msl2l1, E130103E02Rik, Rnf184 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
IGL00543
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
100956154-100981999 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 100978269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 214
(H214Q)
|
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 |
probably benign
Transcript: ENSMUST00000085177
AA Change: H214Q
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000082270 Gene: ENSMUSG00000066415 AA Change: H214Q
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1c |
A |
G |
2: 58,205,835 (GRCm39) |
C42R |
probably damaging |
Het |
Adamts1 |
T |
C |
16: 85,592,461 (GRCm39) |
H649R |
probably benign |
Het |
Capn3 |
T |
C |
2: 120,316,963 (GRCm39) |
|
probably benign |
Het |
Cd44 |
T |
C |
2: 102,686,292 (GRCm39) |
T135A |
possibly damaging |
Het |
Cntnap5c |
T |
A |
17: 58,601,345 (GRCm39) |
I831N |
probably benign |
Het |
Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
Epx |
T |
C |
11: 87,760,751 (GRCm39) |
R394G |
probably damaging |
Het |
Hps5 |
T |
C |
7: 46,427,497 (GRCm39) |
D338G |
probably benign |
Het |
Ikbkg |
T |
C |
X: 73,476,466 (GRCm39) |
V14A |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 41,358,960 (GRCm39) |
F638L |
possibly damaging |
Het |
Lyz3 |
G |
T |
10: 117,074,352 (GRCm39) |
T45K |
probably benign |
Het |
Mak |
A |
T |
13: 41,209,189 (GRCm39) |
Y87N |
probably damaging |
Het |
Morc2a |
T |
A |
11: 3,630,283 (GRCm39) |
I493N |
probably damaging |
Het |
Myom3 |
A |
C |
4: 135,489,882 (GRCm39) |
T18P |
possibly damaging |
Het |
Ndst3 |
G |
T |
3: 123,465,912 (GRCm39) |
T20N |
probably damaging |
Het |
Nelfe |
T |
A |
17: 35,072,592 (GRCm39) |
S124T |
possibly damaging |
Het |
Niban2 |
T |
A |
2: 32,802,483 (GRCm39) |
F158Y |
probably benign |
Het |
Nlgn1 |
T |
G |
3: 25,487,945 (GRCm39) |
T797P |
probably damaging |
Het |
Pcdh18 |
T |
C |
3: 49,707,828 (GRCm39) |
D414G |
probably damaging |
Het |
Pde4dip |
T |
C |
3: 97,664,940 (GRCm39) |
S386G |
possibly damaging |
Het |
Ppig |
T |
A |
2: 69,580,060 (GRCm39) |
H531Q |
unknown |
Het |
Ppm1n |
T |
C |
7: 19,012,109 (GRCm39) |
Y348C |
probably benign |
Het |
Rdh9 |
T |
C |
10: 127,626,853 (GRCm39) |
V302A |
probably benign |
Het |
Serpinb3b |
A |
G |
1: 107,085,396 (GRCm39) |
|
probably null |
Het |
Slc39a10 |
A |
G |
1: 46,858,217 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Msl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R7955:Msl2
|
UTSW |
9 |
100,979,354 (GRCm39) |
missense |
possibly damaging |
0.69 |
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 |
|
|
Posted On |
2015-08-05 |