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 |
Incidental Mutation