Incidental Mutation 'R5971:Msl1'
| ID |
470852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msl1
|
| Ensembl Gene |
ENSMUSG00000052915 |
| Gene Name |
male specific lethal 1 |
| Synonyms |
4930463F05Rik, 4121402D02Rik, 2810017F12Rik |
| MMRRC Submission |
044154-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R5971 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
87% (27/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 5031439G07Rik |
G |
T |
15: 84,871,863 (GRCm39) |
A4D |
possibly damaging |
Het |
| 6820408C15Rik |
T |
C |
2: 152,282,790 (GRCm39) |
V215A |
probably damaging |
Het |
| Abcc9 |
A |
G |
6: 142,585,301 (GRCm39) |
F801S |
probably damaging |
Het |
| Abhd14a |
A |
T |
9: 106,321,065 (GRCm39) |
S97T |
possibly damaging |
Het |
| Adam39 |
C |
T |
8: 41,277,630 (GRCm39) |
A7V |
probably benign |
Het |
| Anxa10 |
C |
A |
8: 62,530,960 (GRCm39) |
M83I |
probably benign |
Het |
| Ctnna1 |
T |
C |
18: 35,287,567 (GRCm39) |
V92A |
probably benign |
Het |
| Gcg |
A |
G |
2: 62,306,148 (GRCm39) |
S150P |
probably damaging |
Het |
| Kitl |
G |
A |
10: 99,912,768 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 70,069,243 (GRCm39) |
V494A |
possibly damaging |
Het |
| Or1ak2 |
G |
A |
2: 36,827,241 (GRCm39) |
V37I |
probably benign |
Het |
| Pik3c2b |
G |
A |
1: 133,002,365 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
G |
A |
10: 13,003,490 (GRCm39) |
G253R |
probably damaging |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Ppp4r1 |
G |
A |
17: 66,121,343 (GRCm39) |
V268I |
possibly damaging |
Het |
| Slc13a1 |
T |
C |
6: 24,133,656 (GRCm39) |
T199A |
probably benign |
Het |
| Spmap2 |
A |
G |
10: 79,420,589 (GRCm39) |
S159P |
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 |
|
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 |
|
|
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'- TGTGGTACTGCTATCCCTAGG -3'
(R):5'- TCTGGATGGCAAGAAGCTAG -3'
Sequencing Primer
(F):5'- TCCCTAGGGACGCTCTGTGAG -3'
(R):5'- ACTGGGCAGCCTGAAGC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation