Incidental Mutation 'R2979:Msl1'
| ID |
257044 |
| 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 # |
R2979 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98686342-98698685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98691050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 178
(G178E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017384]
[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: ENSMUST00000017384
|
| SMART Domains |
Protein: ENSMUSP00000017384
Gene: ENSMUSG00000078676
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
|
Btz
|
138 |
246 |
1.02e-57 |
SMART |
|
low complexity region
|
524 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
614 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
684 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037915
AA Change: G408E
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000042792
Gene: ENSMUSG00000052915
AA Change: G408E
| 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 |
possibly damaging
Transcript: ENSMUST00000037930
AA Change: G178E
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000043328
Gene: ENSMUSG00000052915
AA Change: G178E
| 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
AA Change: G408E
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103109
Gene: ENSMUSG00000052915
AA Change: G408E
| 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
AA Change: G408E
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103111
Gene: ENSMUSG00000052915
AA Change: G408E
| 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 |
unknown
Transcript: ENSMUST00000126969
AA Change: G20E
|
| SMART Domains |
Protein: ENSMUSP00000116598
Gene: ENSMUSG00000052915
AA Change: G20E
| 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: ENSMUST00000141016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153181
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141696
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
A |
G |
5: 90,670,022 (GRCm39) |
I48V |
probably benign |
Het |
| Arhgef1 |
A |
G |
7: 24,607,176 (GRCm39) |
E16G |
unknown |
Het |
| Cps1 |
T |
C |
1: 67,243,863 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
T |
C |
11: 66,008,414 (GRCm39) |
K804E |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gm18025 |
G |
T |
12: 34,340,970 (GRCm39) |
P41Q |
probably damaging |
Het |
| Kdm4c |
A |
T |
4: 74,291,965 (GRCm39) |
R861* |
probably null |
Het |
| Klhl2 |
C |
T |
8: 65,275,730 (GRCm39) |
V58I |
probably damaging |
Het |
| Nacad |
T |
A |
11: 6,551,424 (GRCm39) |
Q589L |
probably benign |
Het |
| Pros1 |
A |
G |
16: 62,734,229 (GRCm39) |
D345G |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,122,556 (GRCm39) |
Y439C |
probably damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,051,995 (GRCm39) |
M376K |
probably benign |
Het |
| Srd5a1 |
T |
C |
13: 69,748,418 (GRCm39) |
Q127R |
probably damaging |
Het |
| Synm |
T |
G |
7: 67,386,008 (GRCm39) |
R551S |
probably damaging |
Het |
| Trmt1 |
A |
G |
8: 85,423,511 (GRCm39) |
Y301C |
probably damaging |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Txnl1 |
T |
C |
18: 63,804,691 (GRCm39) |
T268A |
probably benign |
Het |
| Zbbx |
C |
A |
3: 74,985,793 (GRCm39) |
E420* |
probably null |
Het |
| Zc3h7a |
A |
T |
16: 10,976,837 (GRCm39) |
V153E |
probably 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 |
|
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 |
|
R6079: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'- CTGGCTCCTGAATTTTCAAAAGTC -3'
(R):5'- AGGCCTTTCACACGTGTTAGC -3'
Sequencing Primer
(F):5'- GCTCCTGAATTTTCAAAAGTCAAAAC -3'
(R):5'- AGAGCAAGTGTTCTCTATGCC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation