Incidental Mutation 'R1288:Msl2'
| ID |
150674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msl2
|
| Ensembl Gene |
ENSMUSG00000066415 |
| Gene Name |
MSL complex subunit 2 |
| Synonyms |
Msl2l1, E130103E02Rik, Rnf184 |
| MMRRC Submission |
039354-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R1288 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
100956154-100981999 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100979308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 561
(T561A)
|
| 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: T561A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000082270
Gene: ENSMUSG00000066415
AA Change: T561A
| 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: 98.9%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
A |
T |
5: 129,206,071 (GRCm39) |
D247V |
probably damaging |
Het |
| Ano5 |
A |
T |
7: 51,196,620 (GRCm39) |
S184C |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Atxn3 |
C |
T |
12: 101,908,437 (GRCm39) |
|
probably null |
Het |
| BC005537 |
A |
T |
13: 24,988,883 (GRCm39) |
E54V |
probably damaging |
Het |
| Ccdc150 |
A |
T |
1: 54,403,617 (GRCm39) |
E881V |
probably damaging |
Het |
| Cep126 |
A |
T |
9: 8,112,182 (GRCm39) |
N130K |
probably benign |
Het |
| Enoph1 |
A |
G |
5: 100,188,138 (GRCm39) |
T21A |
possibly damaging |
Het |
| Fbxw28 |
A |
G |
9: 109,166,361 (GRCm39) |
I165T |
probably damaging |
Het |
| Lrp12 |
A |
T |
15: 39,741,799 (GRCm39) |
N305K |
probably damaging |
Het |
| Mup21 |
G |
T |
4: 62,068,934 (GRCm39) |
A19E |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,244,544 (GRCm39) |
I1027T |
probably benign |
Het |
| Nkg7 |
A |
G |
7: 43,087,086 (GRCm39) |
|
probably null |
Het |
| Nme8 |
A |
G |
13: 19,858,619 (GRCm39) |
V73A |
possibly damaging |
Het |
| Or2g1 |
T |
A |
17: 38,106,584 (GRCm39) |
L83Q |
probably damaging |
Het |
| Or2n1e |
A |
G |
17: 38,586,114 (GRCm39) |
T151A |
probably benign |
Het |
| Or52a5 |
A |
T |
7: 103,427,249 (GRCm39) |
L101Q |
possibly damaging |
Het |
| Or5w12 |
G |
A |
2: 87,501,916 (GRCm39) |
A265V |
probably benign |
Het |
| Or6c69c |
A |
G |
10: 129,911,154 (GRCm39) |
N292D |
probably damaging |
Het |
| Rapgef3 |
C |
A |
15: 97,657,223 (GRCm39) |
S267I |
probably benign |
Het |
| Trhde |
T |
A |
10: 114,637,195 (GRCm39) |
D4V |
probably benign |
Het |
| Vmn1r234 |
CTT |
CTTT |
17: 21,449,513 (GRCm39) |
|
probably null |
Het |
| Zfp40 |
T |
A |
17: 23,401,136 (GRCm39) |
I36L |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATTTGCGGTGCCAGAAAAG -3'
(R):5'- GCATTTGAAGGCAGCACAAAGTCTC -3'
Sequencing Primer
(F):5'- TTGCTGTGCGTAACGCAA -3'
(R):5'- GCGCAATCTTTATGGACTGAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation