Incidental Mutation 'IGL00519:Mansc1'
| ID |
6330 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mansc1
|
| Ensembl Gene |
ENSMUSG00000032718 |
| Gene Name |
MANSC domain containing 1 |
| Synonyms |
9130403P13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL00519
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
134586170-134609451 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 134587769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 136
(Q136L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047443]
|
| AlphaFold |
Q9CR33 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047443
AA Change: Q136L
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000038346
Gene: ENSMUSG00000032718
AA Change: Q136L
| Domain | Start | End | E-Value | Type |
|---|
|
MANEC
|
23 |
116 |
3.87e-44 |
SMART |
|
low complexity region
|
219 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
271 |
N/A |
INTRINSIC |
|
transmembrane domain
|
370 |
392 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204630
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
T |
8: 44,022,562 (GRCm39) |
N309K |
probably damaging |
Het |
| Asap1 |
G |
A |
15: 63,982,791 (GRCm39) |
P846S |
probably damaging |
Het |
| Atg10 |
A |
G |
13: 91,302,330 (GRCm39) |
|
probably benign |
Het |
| Cdk18 |
C |
A |
1: 132,043,226 (GRCm39) |
R433L |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,915,037 (GRCm39) |
Y979H |
probably damaging |
Het |
| Cracr2b |
T |
C |
7: 141,045,670 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,377,266 (GRCm39) |
F2049L |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,287,730 (GRCm39) |
N3450D |
probably benign |
Het |
| Dmrt1 |
T |
C |
19: 25,580,638 (GRCm39) |
L350P |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,444,364 (GRCm39) |
D4054V |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,985,290 (GRCm39) |
T783S |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,663,670 (GRCm39) |
T564A |
probably benign |
Het |
| Exoc6b |
T |
C |
6: 84,966,435 (GRCm39) |
K180E |
probably benign |
Het |
| Faf1 |
T |
A |
4: 109,697,578 (GRCm39) |
F301L |
probably benign |
Het |
| Fbxo7 |
A |
T |
10: 85,864,928 (GRCm39) |
E77V |
probably damaging |
Het |
| Gabpa |
T |
G |
16: 84,657,489 (GRCm39) |
*455G |
probably null |
Het |
| Hexim2 |
A |
T |
11: 103,024,905 (GRCm39) |
M1L |
probably benign |
Het |
| Lrrc24 |
T |
A |
15: 76,602,263 (GRCm39) |
N164I |
probably damaging |
Het |
| Lrrc8b |
G |
A |
5: 105,629,591 (GRCm39) |
A646T |
possibly damaging |
Het |
| Mlxip |
T |
A |
5: 123,585,268 (GRCm39) |
V592E |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,161,988 (GRCm39) |
T429A |
unknown |
Het |
| Tbcd |
A |
G |
11: 121,466,147 (GRCm39) |
N591S |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,454,345 (GRCm39) |
|
probably benign |
Het |
| Uri1 |
A |
G |
7: 37,660,978 (GRCm39) |
S522P |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,176,865 (GRCm39) |
S1343L |
probably benign |
Het |
|
| Other mutations in Mansc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01141:Mansc1
|
APN |
6 |
134,598,748 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01447:Mansc1
|
APN |
6 |
134,594,289 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01582:Mansc1
|
APN |
6 |
134,598,836 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02121:Mansc1
|
APN |
6 |
134,598,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02214:Mansc1
|
APN |
6 |
134,587,323 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02466:Mansc1
|
APN |
6 |
134,587,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02699:Mansc1
|
APN |
6 |
134,587,317 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0266:Mansc1
|
UTSW |
6 |
134,587,670 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0730:Mansc1
|
UTSW |
6 |
134,594,424 (GRCm39) |
splice site |
probably benign |
|
|
R0849:Mansc1
|
UTSW |
6 |
134,587,670 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2015:Mansc1
|
UTSW |
6 |
134,587,274 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3874:Mansc1
|
UTSW |
6 |
134,587,146 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4886:Mansc1
|
UTSW |
6 |
134,587,625 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5864:Mansc1
|
UTSW |
6 |
134,587,816 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5932:Mansc1
|
UTSW |
6 |
134,587,478 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7233:Mansc1
|
UTSW |
6 |
134,598,806 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7576:Mansc1
|
UTSW |
6 |
134,587,674 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7858:Mansc1
|
UTSW |
6 |
134,587,377 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7981:Mansc1
|
UTSW |
6 |
134,587,274 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8775:Mansc1
|
UTSW |
6 |
134,587,631 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8775-TAIL:Mansc1
|
UTSW |
6 |
134,587,631 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9130:Mansc1
|
UTSW |
6 |
134,586,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9761:Mansc1
|
UTSW |
6 |
134,587,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation