Incidental Mutation 'IGL02485:Maneal'
| ID |
295400 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Maneal
|
| Ensembl Gene |
ENSMUSG00000042763 |
| Gene Name |
mannosidase, endo-alpha-like |
| Synonyms |
LOC215090 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02485
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
124749032-124755964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124750563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 398
(S398T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064444]
[ENSMUST00000102628]
[ENSMUST00000144851]
|
| AlphaFold |
Q6P1J0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064444
AA Change: S398T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066000
Gene: ENSMUSG00000042763
AA Change: S398T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
79 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_99
|
95 |
445 |
8.7e-160 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102628
|
| SMART Domains |
Protein: ENSMUSP00000099688
Gene: ENSMUSG00000028889
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
63 |
N/A |
INTRINSIC |
|
Pfam:Sua5_yciO_yrdC
|
76 |
256 |
1.3e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144851
|
| SMART Domains |
Protein: ENSMUSP00000114150
Gene: ENSMUSG00000028889
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sua5_yciO_yrdC
|
1 |
103 |
2.5e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173434
|
| 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 |
|---|
| Agl |
A |
G |
3: 116,572,729 (GRCm39) |
S841P |
probably benign |
Het |
| Cd59b |
A |
C |
2: 103,911,449 (GRCm39) |
|
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,567,710 (GRCm39) |
L1379P |
probably damaging |
Het |
| Ercc2 |
G |
A |
7: 19,127,970 (GRCm39) |
A433T |
possibly damaging |
Het |
| Gm17175 |
T |
C |
14: 51,807,068 (GRCm39) |
|
probably benign |
Het |
| Gm5150 |
A |
T |
3: 16,044,916 (GRCm39) |
I103N |
probably damaging |
Het |
| Igf1 |
A |
G |
10: 87,700,608 (GRCm39) |
M11V |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,870,732 (GRCm39) |
N299S |
unknown |
Het |
| Map1a |
A |
G |
2: 121,129,769 (GRCm39) |
N195S |
probably damaging |
Het |
| Mars2 |
T |
C |
1: 55,276,750 (GRCm39) |
F118L |
possibly damaging |
Het |
| Mast4 |
A |
G |
13: 102,872,004 (GRCm39) |
S2263P |
probably benign |
Het |
| Mrgprb1 |
C |
A |
7: 48,097,465 (GRCm39) |
R149L |
possibly damaging |
Het |
| Myo1d |
T |
C |
11: 80,557,407 (GRCm39) |
D511G |
probably damaging |
Het |
| Ntan1 |
T |
C |
16: 13,652,540 (GRCm39) |
|
probably benign |
Het |
| Nxf2 |
A |
G |
X: 133,857,216 (GRCm39) |
F158L |
probably damaging |
Het |
| Odr4 |
A |
G |
1: 150,239,240 (GRCm39) |
|
probably null |
Het |
| Or10g3b |
T |
A |
14: 52,587,501 (GRCm39) |
M1L |
possibly damaging |
Het |
| Potefam1 |
A |
T |
2: 111,058,670 (GRCm39) |
V94E |
probably damaging |
Het |
| Trpm1 |
C |
T |
7: 63,918,862 (GRCm39) |
A734V |
possibly damaging |
Het |
| Upf2 |
G |
A |
2: 6,032,102 (GRCm39) |
E883K |
unknown |
Het |
| Ush1c |
T |
C |
7: 45,878,674 (GRCm39) |
I83V |
probably damaging |
Het |
| Vmn2r60 |
C |
A |
7: 41,844,890 (GRCm39) |
T751N |
possibly damaging |
Het |
| Zfp146 |
A |
G |
7: 29,862,015 (GRCm39) |
I9T |
probably benign |
Het |
| Zfp592 |
G |
A |
7: 80,687,718 (GRCm39) |
|
probably benign |
Het |
| Zswim8 |
C |
T |
14: 20,761,955 (GRCm39) |
L243F |
probably damaging |
Het |
|
| Other mutations in Maneal |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01973:Maneal
|
APN |
4 |
124,752,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02119:Maneal
|
APN |
4 |
124,752,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02183:Maneal
|
APN |
4 |
124,754,209 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02338:Maneal
|
APN |
4 |
124,754,276 (GRCm39) |
splice site |
probably benign |
|
|
IGL02450:Maneal
|
APN |
4 |
124,750,928 (GRCm39) |
missense |
probably benign |
0.37 |
|
BB009:Maneal
|
UTSW |
4 |
124,755,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB019:Maneal
|
UTSW |
4 |
124,755,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Maneal
|
UTSW |
4 |
124,755,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5568:Maneal
|
UTSW |
4 |
124,750,937 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5909:Maneal
|
UTSW |
4 |
124,750,966 (GRCm39) |
nonsense |
probably null |
|
|
R6459:Maneal
|
UTSW |
4 |
124,750,635 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6493:Maneal
|
UTSW |
4 |
124,750,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7121:Maneal
|
UTSW |
4 |
124,750,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7199:Maneal
|
UTSW |
4 |
124,750,983 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7329:Maneal
|
UTSW |
4 |
124,750,512 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7406:Maneal
|
UTSW |
4 |
124,754,161 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7456:Maneal
|
UTSW |
4 |
124,750,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7932:Maneal
|
UTSW |
4 |
124,755,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8795:Maneal
|
UTSW |
4 |
124,750,483 (GRCm39) |
nonsense |
probably null |
|
|
R9151:Maneal
|
UTSW |
4 |
124,755,542 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Posted On |
2015-04-16 |
Incidental Mutation