Incidental Mutation 'IGL00645:Msl1'
| ID |
12104 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00645
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
98686342-98698685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 98696247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 598
(C598S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017384]
[ENSMUST00000037915]
[ENSMUST00000037930]
[ENSMUST00000107485]
[ENSMUST00000107487]
[ENSMUST00000169695]
|
| AlphaFold |
Q6PDM1 |
| 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: C614S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042792
Gene: ENSMUSG00000052915
AA Change: C614S
| 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: C368S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043328
Gene: ENSMUSG00000052915
AA Change: C368S
| 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: C598S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103111
Gene: ENSMUSG00000052915
AA Change: C598S
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141696
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147065
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169695
|
| SMART Domains |
Protein: ENSMUSP00000130926
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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 10 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c21 |
A |
G |
13: 4,626,312 (GRCm39) |
D112G |
probably damaging |
Het |
| Cd2 |
T |
C |
3: 101,190,539 (GRCm39) |
N135D |
probably damaging |
Het |
| Coq10b |
A |
G |
1: 55,100,468 (GRCm39) |
T51A |
probably benign |
Het |
| Cst5 |
T |
A |
2: 149,251,899 (GRCm39) |
C125S |
probably damaging |
Het |
| Fam135b |
A |
G |
15: 71,334,395 (GRCm39) |
V933A |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,159,023 (GRCm39) |
|
probably benign |
Het |
| Kcna10 |
G |
A |
3: 107,102,781 (GRCm39) |
E471K |
possibly damaging |
Het |
| Nup35 |
T |
A |
2: 80,485,176 (GRCm39) |
F192L |
probably damaging |
Het |
| Sec16b |
T |
A |
1: 157,394,289 (GRCm39) |
V1026D |
probably damaging |
Het |
| Serpina3f |
T |
C |
12: 104,183,599 (GRCm39) |
F154L |
probably benign |
Het |
|
| Other mutations in Msl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation