Incidental Mutation 'R6079:Msl1'
ID |
482863 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Msl1
|
Ensembl Gene |
ENSMUSG00000052915 |
Gene Name |
male specific lethal 1 |
Synonyms |
4930463F05Rik, 4121402D02Rik, 2810017F12Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.943)
|
Stock # |
R6079 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
98686342-98698685 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 98689519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 9
(G9C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037915]
[ENSMUST00000037930]
[ENSMUST00000107485]
[ENSMUST00000107487]
|
AlphaFold |
Q6PDM1 |
PDB Structure |
CRYSTAL STRUCTURE OF THE COMPLEX BETWEEN DOSAGE COMPENSATION FACTORS MSL1 AND MOF [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE COMPLEX BETWEEN DOSAGE COMPENSATION FACTORS MSL1 AND MSL3 [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000037915
|
SMART Domains |
Protein: ENSMUSP00000042792 Gene: ENSMUSG00000052915
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
15 |
N/A |
INTRINSIC |
low complexity region
|
55 |
91 |
N/A |
INTRINSIC |
low complexity region
|
153 |
196 |
N/A |
INTRINSIC |
Pfam:MSL1_dimer
|
216 |
252 |
5e-22 |
PFAM |
low complexity region
|
289 |
300 |
N/A |
INTRINSIC |
low complexity region
|
441 |
453 |
N/A |
INTRINSIC |
PEHE
|
475 |
593 |
1.8e-41 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000037930
AA Change: G9C
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000043328 Gene: ENSMUSG00000052915 AA Change: G9C
Domain | Start | End | E-Value | Type |
coiled coil region
|
18 |
56 |
N/A |
INTRINSIC |
low complexity region
|
59 |
70 |
N/A |
INTRINSIC |
low complexity region
|
211 |
223 |
N/A |
INTRINSIC |
PEHE
|
229 |
347 |
2.73e-41 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107485
|
SMART Domains |
Protein: ENSMUSP00000103109 Gene: ENSMUSG00000052915
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
15 |
N/A |
INTRINSIC |
low complexity region
|
55 |
91 |
N/A |
INTRINSIC |
low complexity region
|
153 |
196 |
N/A |
INTRINSIC |
low complexity region
|
210 |
222 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
235 |
307 |
2e-3 |
SMART |
low complexity region
|
441 |
453 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107487
|
SMART Domains |
Protein: ENSMUSP00000103111 Gene: ENSMUSG00000052915
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
15 |
N/A |
INTRINSIC |
low complexity region
|
55 |
91 |
N/A |
INTRINSIC |
low complexity region
|
153 |
196 |
N/A |
INTRINSIC |
low complexity region
|
210 |
222 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
235 |
307 |
6e-3 |
SMART |
low complexity region
|
441 |
453 |
N/A |
INTRINSIC |
PEHE
|
459 |
577 |
2.73e-41 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126969
|
SMART Domains |
Protein: ENSMUSP00000116598 Gene: ENSMUSG00000052915
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
Pfam:PEHE
|
88 |
141 |
1.1e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139017
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153181
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Abcc8 |
T |
C |
7: 45,755,268 (GRCm39) |
M1511V |
probably benign |
Het |
Adamts2 |
T |
A |
11: 50,647,533 (GRCm39) |
I302N |
probably damaging |
Het |
Adgra2 |
G |
A |
8: 27,604,457 (GRCm39) |
A511T |
probably damaging |
Het |
Anxa10 |
C |
A |
8: 62,530,960 (GRCm39) |
M83I |
probably benign |
Het |
Atp2b4 |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT |
1: 133,629,440 (GRCm39) |
|
probably benign |
Het |
Cdc20b |
T |
C |
13: 113,220,576 (GRCm39) |
F485S |
probably damaging |
Het |
Edc4 |
C |
T |
8: 106,614,180 (GRCm39) |
R19C |
probably benign |
Het |
Fam90a1b |
T |
C |
X: 93,400,191 (GRCm39) |
N213S |
probably benign |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,006,400 (GRCm39) |
E356G |
possibly damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lrrc19 |
A |
T |
4: 94,531,580 (GRCm39) |
F11I |
probably benign |
Het |
Muc4 |
T |
A |
16: 32,575,621 (GRCm39) |
|
probably benign |
Het |
Myo7a |
C |
T |
7: 97,714,997 (GRCm39) |
W1558* |
probably null |
Het |
Or5p81 |
T |
A |
7: 108,267,412 (GRCm39) |
V263E |
probably damaging |
Het |
Pgk1 |
C |
A |
X: 105,238,098 (GRCm39) |
L85I |
possibly damaging |
Het |
Ppp4r1 |
G |
A |
17: 66,121,343 (GRCm39) |
V268I |
possibly damaging |
Het |
Rad23b |
C |
T |
4: 55,370,400 (GRCm39) |
A142V |
probably damaging |
Het |
Satl1 |
T |
C |
X: 111,315,613 (GRCm39) |
T281A |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Synrg |
A |
G |
11: 83,915,126 (GRCm39) |
E1044G |
probably damaging |
Het |
Syt12 |
T |
C |
19: 4,506,896 (GRCm39) |
D83G |
probably benign |
Het |
Taf4b |
T |
C |
18: 14,955,255 (GRCm39) |
C603R |
possibly damaging |
Het |
Tbx5 |
T |
C |
5: 120,021,211 (GRCm39) |
S406P |
probably benign |
Het |
Tfe3 |
T |
C |
X: 7,637,288 (GRCm39) |
L231P |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Vmn2r79 |
T |
A |
7: 86,653,319 (GRCm39) |
V528D |
possibly damaging |
Het |
|
Other mutations in Msl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00645:Msl1
|
APN |
11 |
98,696,247 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01743:Msl1
|
APN |
11 |
98,696,245 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01845:Msl1
|
APN |
11 |
98,696,191 (GRCm39) |
splice site |
probably null |
|
R1458:Msl1
|
UTSW |
11 |
98,694,808 (GRCm39) |
splice site |
probably benign |
|
R2377:Msl1
|
UTSW |
11 |
98,694,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R2979:Msl1
|
UTSW |
11 |
98,691,050 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4135:Msl1
|
UTSW |
11 |
98,687,126 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4801:Msl1
|
UTSW |
11 |
98,694,795 (GRCm39) |
nonsense |
probably null |
|
R4802:Msl1
|
UTSW |
11 |
98,694,795 (GRCm39) |
nonsense |
probably null |
|
R5971:Msl1
|
UTSW |
11 |
98,689,519 (GRCm39) |
missense |
probably benign |
0.30 |
R6165:Msl1
|
UTSW |
11 |
98,695,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R6733:Msl1
|
UTSW |
11 |
98,690,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R6737:Msl1
|
UTSW |
11 |
98,694,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R7654:Msl1
|
UTSW |
11 |
98,686,937 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8316:Msl1
|
UTSW |
11 |
98,691,074 (GRCm39) |
missense |
probably damaging |
0.98 |
U15987:Msl1
|
UTSW |
11 |
98,689,519 (GRCm39) |
missense |
probably benign |
0.30 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGGTACTGCTATCCCTAGGG -3'
(R):5'- TCTGGATGGCAAGAAGCTAG -3'
Sequencing Primer
(F):5'- TCCCTAGGGACGCTCTGTGAG -3'
(R):5'- ACTGGGCAGCCTGAAGC -3'
|
Posted On |
2017-07-14 |