Incidental Mutation 'R6733:Msl1'
ID |
530154 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Msl1
|
Ensembl Gene |
ENSMUSG00000052915 |
Gene Name |
male specific lethal 1 |
Synonyms |
4930463F05Rik, 4121402D02Rik, 2810017F12Rik |
MMRRC Submission |
044851-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.943)
|
Stock # |
R6733 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
98686342-98698685 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98690882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 122
(E122G)
|
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 damaging
Transcript: ENSMUST00000037915
AA Change: E352G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000042792 Gene: ENSMUSG00000052915 AA Change: E352G
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 damaging
Transcript: ENSMUST00000037930
AA Change: E122G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000043328 Gene: ENSMUSG00000052915 AA Change: E122G
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 damaging
Transcript: ENSMUST00000107485
AA Change: E352G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103109 Gene: ENSMUSG00000052915 AA Change: E352G
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 damaging
Transcript: ENSMUST00000107487
AA Change: E352G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103111 Gene: ENSMUSG00000052915 AA Change: E352G
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: ENSMUST00000141016
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139017
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153181
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141696
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afdn |
C |
T |
17: 14,043,615 (GRCm39) |
H358Y |
probably benign |
Het |
Aoc1l2 |
T |
C |
6: 48,907,464 (GRCm39) |
S155P |
probably damaging |
Het |
Ccdc125 |
T |
A |
13: 100,830,995 (GRCm39) |
M394K |
probably benign |
Het |
Cfd |
C |
A |
10: 79,727,636 (GRCm39) |
H103Q |
probably damaging |
Het |
Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
Dedd2 |
T |
C |
7: 24,903,332 (GRCm39) |
E209G |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,522,197 (GRCm39) |
S3999P |
probably benign |
Het |
Fer1l5 |
T |
C |
1: 36,447,753 (GRCm39) |
|
probably null |
Het |
H6pd |
A |
T |
4: 150,069,578 (GRCm39) |
|
probably null |
Het |
Il25 |
T |
C |
14: 55,170,490 (GRCm39) |
I21T |
probably benign |
Het |
Kmt2c |
C |
T |
5: 25,614,291 (GRCm39) |
S143N |
probably damaging |
Het |
Marveld3 |
T |
C |
8: 110,688,681 (GRCm39) |
D20G |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,919,421 (GRCm39) |
V6861E |
probably damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,605 (GRCm39) |
C180S |
probably damaging |
Het |
Phc1 |
A |
T |
6: 122,313,845 (GRCm39) |
M29K |
possibly damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,375,126 (GRCm39) |
|
probably null |
Het |
Prl5a1 |
G |
T |
13: 28,333,919 (GRCm39) |
V141F |
possibly damaging |
Het |
Psg20 |
A |
T |
7: 18,408,547 (GRCm39) |
V391D |
probably damaging |
Het |
Ptprh |
T |
C |
7: 4,606,043 (GRCm39) |
|
probably null |
Het |
Rasa3 |
T |
C |
8: 13,630,037 (GRCm39) |
E580G |
possibly damaging |
Het |
Ror1 |
T |
C |
4: 100,283,252 (GRCm39) |
V439A |
probably benign |
Het |
Rsl1 |
A |
G |
13: 67,325,206 (GRCm39) |
T81A |
probably benign |
Het |
Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
Slc22a8 |
T |
C |
19: 8,586,656 (GRCm39) |
L389P |
probably benign |
Het |
Slc6a11 |
A |
G |
6: 114,111,859 (GRCm39) |
Y142C |
probably damaging |
Het |
Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
Thop1 |
T |
A |
10: 80,917,246 (GRCm39) |
I583N |
probably damaging |
Het |
Tom1l1 |
A |
G |
11: 90,575,886 (GRCm39) |
|
probably null |
Het |
Unk |
A |
G |
11: 115,941,581 (GRCm39) |
D276G |
probably damaging |
Het |
Zfp942 |
C |
A |
17: 22,147,733 (GRCm39) |
E299* |
probably null |
Het |
Zkscan6 |
A |
G |
11: 65,719,461 (GRCm39) |
T494A |
probably damaging |
Het |
Zscan25 |
T |
A |
5: 145,227,723 (GRCm39) |
|
probably null |
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 |
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 |
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'- TTAGGTACCTGGATACCTCTCTTG -3'
(R):5'- AGAAGGCTTTCTCCTTGGGG -3'
Sequencing Primer
(F):5'- AGACCGGGTTTCTCTGTAGACC -3'
(R):5'- CTCCTTGGGGTGGGTGC -3'
|
Posted On |
2018-08-01 |