Incidental Mutation 'R2377:Msl1'
| ID |
248323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msl1
|
| Ensembl Gene |
ENSMUSG00000052915 |
| Gene Name |
male specific lethal 1 |
| Synonyms |
4930463F05Rik, 4121402D02Rik, 2810017F12Rik |
| MMRRC Submission |
040354-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.944)
|
| Stock # |
R2377 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98686342-98698685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98694789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 273
(R273G)
|
| 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: R519G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000042792
Gene: ENSMUSG00000052915
AA Change: R519G
| 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: R273G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043328
Gene: ENSMUSG00000052915
AA Change: R273G
| 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 damaging
Transcript: ENSMUST00000107487
AA Change: R503G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103111
Gene: ENSMUSG00000052915
AA Change: R503G
| 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 damaging
Transcript: ENSMUST00000126969
AA Change: R131G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116598
Gene: ENSMUSG00000052915
AA Change: R131G
| 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: ENSMUST00000141696
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153181
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,285,787 (GRCm39) |
D1304G |
probably damaging |
Het |
| Adamts10 |
C |
A |
17: 33,747,866 (GRCm39) |
H101N |
probably damaging |
Het |
| Apaf1 |
T |
A |
10: 90,915,755 (GRCm39) |
K44N |
possibly damaging |
Het |
| Aqr |
A |
T |
2: 113,971,421 (GRCm39) |
N471K |
possibly damaging |
Het |
| Blvrb |
T |
A |
7: 27,159,024 (GRCm39) |
I94N |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,409,897 (GRCm39) |
P239S |
probably damaging |
Het |
| Chst4 |
T |
A |
8: 110,756,804 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Col5a1 |
T |
C |
2: 27,818,189 (GRCm39) |
F138S |
unknown |
Het |
| Dhx32 |
G |
T |
7: 133,326,207 (GRCm39) |
H407N |
probably damaging |
Het |
| Dock3 |
G |
A |
9: 106,773,090 (GRCm39) |
P388S |
probably damaging |
Het |
| Fbxo10 |
A |
C |
4: 45,044,719 (GRCm39) |
Y639D |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,806,593 (GRCm39) |
T971A |
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,764,855 (GRCm39) |
A1099T |
possibly damaging |
Het |
| Hr |
C |
T |
14: 70,795,318 (GRCm39) |
L317F |
probably damaging |
Het |
| Ice1 |
G |
A |
13: 70,750,899 (GRCm39) |
A1729V |
probably damaging |
Het |
| Mcc |
C |
G |
18: 44,652,616 (GRCm39) |
K269N |
probably damaging |
Het |
| Miga2 |
T |
A |
2: 30,274,002 (GRCm39) |
C83* |
probably null |
Het |
| Msl3l2 |
T |
C |
10: 55,991,659 (GRCm39) |
I128T |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,698,714 (GRCm39) |
D109V |
possibly damaging |
Het |
| Or14j5 |
A |
G |
17: 38,161,498 (GRCm39) |
N5S |
probably damaging |
Het |
| Or4b13 |
A |
G |
2: 90,083,255 (GRCm39) |
F26L |
probably damaging |
Het |
| Or4f14b |
A |
T |
2: 111,774,988 (GRCm39) |
L271Q |
probably damaging |
Het |
| Or5b97 |
T |
A |
19: 12,878,217 (GRCm39) |
Y309F |
possibly damaging |
Het |
| Pcmtd2 |
A |
G |
2: 181,497,072 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,949,810 (GRCm39) |
|
probably null |
Het |
| Ptk2b |
T |
A |
14: 66,409,997 (GRCm39) |
I452F |
possibly damaging |
Het |
| Rad21 |
A |
G |
15: 51,831,834 (GRCm39) |
F416L |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,368,793 (GRCm39) |
I244N |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Tnpo3 |
A |
C |
6: 29,579,618 (GRCm39) |
N258K |
probably benign |
Het |
| Uba6 |
T |
C |
5: 86,272,229 (GRCm39) |
D789G |
possibly damaging |
Het |
| Vmn1r226 |
T |
G |
17: 20,907,992 (GRCm39) |
L75V |
probably benign |
Het |
| Zfp729b |
A |
C |
13: 67,739,820 (GRCm39) |
V815G |
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 |
|
|
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 |
|
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'- TCATTTTGAAGCTTGGGATGCC -3'
(R):5'- GCTGGTGTTCCAAAGAAAGTAG -3'
Sequencing Primer
(F):5'- GGTAAGGACAGAAGTGTATCTTATTG -3'
(R):5'- CTGGTGTTCCAAAGAAAGTAGTACTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation