Incidental Mutation 'IGL01922:Unc50'
| ID |
180141 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Unc50
|
| Ensembl Gene |
ENSMUSG00000026111 |
| Gene Name |
unc-50 homolog |
| Synonyms |
GMH1, 1110002A21Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.306)
|
| Stock # |
IGL01922
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
37469220-37478068 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37476284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 148
(D148G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027285]
[ENSMUST00000042161]
[ENSMUST00000114925]
[ENSMUST00000118059]
[ENSMUST00000144617]
[ENSMUST00000151952]
[ENSMUST00000193979]
|
| AlphaFold |
Q9CQ61 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027285
AA Change: D148G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000027285
Gene: ENSMUSG00000026111
AA Change: D148G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-50
|
28 |
256 |
1.1e-92 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042161
|
| SMART Domains |
Protein: ENSMUSP00000038894
Gene: ENSMUSG00000026110
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
coiled coil region
|
28 |
63 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_54
|
75 |
380 |
5.8e-137 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114925
AA Change: D148G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000110575
Gene: ENSMUSG00000026111
AA Change: D148G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-50
|
30 |
255 |
6.7e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118059
AA Change: D148G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000113135
Gene: ENSMUSG00000026111
AA Change: D148G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-50
|
28 |
256 |
1.1e-92 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134184
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144617
AA Change: D148G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000123684
Gene: ENSMUSG00000026111
AA Change: D148G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-50
|
28 |
214 |
2.3e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151952
|
| SMART Domains |
Protein: ENSMUSP00000114175
Gene: ENSMUSG00000026110
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
coiled coil region
|
28 |
63 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_54
|
86 |
380 |
7.5e-139 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193979
AA Change: D148G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000141818
Gene: ENSMUSG00000026111
AA Change: D148G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-50
|
28 |
170 |
9.2e-59 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
C |
A |
7: 133,539,201 (GRCm39) |
G104* |
probably null |
Het |
| Adamtsl1 |
A |
G |
4: 86,168,139 (GRCm39) |
K477R |
probably damaging |
Het |
| Arhgap35 |
A |
C |
7: 16,298,180 (GRCm39) |
V295G |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,629,629 (GRCm39) |
I1234N |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,637,114 (GRCm39) |
E997G |
possibly damaging |
Het |
| Cog6 |
T |
C |
3: 52,893,846 (GRCm39) |
N601S |
probably benign |
Het |
| Col28a1 |
G |
T |
6: 8,158,133 (GRCm39) |
D308E |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,300,305 (GRCm39) |
K3204R |
unknown |
Het |
| Cspg4 |
G |
A |
9: 56,795,171 (GRCm39) |
D969N |
probably damaging |
Het |
| Dhx8 |
G |
A |
11: 101,630,633 (GRCm39) |
V347I |
probably damaging |
Het |
| Dnah9 |
G |
T |
11: 65,965,860 (GRCm39) |
|
probably benign |
Het |
| Erap1 |
T |
C |
13: 74,810,506 (GRCm39) |
Y282H |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| H2-T3 |
A |
G |
17: 36,497,992 (GRCm39) |
M307T |
possibly damaging |
Het |
| Ifi204 |
T |
C |
1: 173,589,288 (GRCm39) |
I48V |
possibly damaging |
Het |
| Myh1 |
T |
C |
11: 67,101,292 (GRCm39) |
|
probably null |
Het |
| Nphp1 |
T |
C |
2: 127,621,989 (GRCm39) |
Y46C |
possibly damaging |
Het |
| Odad3 |
G |
T |
9: 21,904,826 (GRCm39) |
|
probably benign |
Het |
| Or14j7 |
A |
T |
17: 38,234,850 (GRCm39) |
H131L |
possibly damaging |
Het |
| Or2t46 |
G |
A |
11: 58,471,899 (GRCm39) |
M76I |
probably benign |
Het |
| Piezo1 |
G |
T |
8: 123,219,431 (GRCm39) |
S1066R |
probably benign |
Het |
| Plekhh1 |
T |
C |
12: 79,126,353 (GRCm39) |
S1353P |
probably benign |
Het |
| Prl6a1 |
A |
T |
13: 27,499,343 (GRCm39) |
D37V |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,229,978 (GRCm39) |
|
probably null |
Het |
| Selenoo |
T |
C |
15: 88,983,852 (GRCm39) |
V585A |
probably benign |
Het |
| Tmf1 |
T |
C |
6: 97,153,891 (GRCm39) |
T61A |
probably benign |
Het |
| Tshz3 |
A |
G |
7: 36,469,030 (GRCm39) |
T340A |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Xpc |
C |
T |
6: 91,482,407 (GRCm39) |
R192H |
probably damaging |
Het |
|
| Other mutations in Unc50 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02417:Unc50
|
APN |
1 |
37,476,531 (GRCm39) |
nonsense |
probably null |
|
|
R1813:Unc50
|
UTSW |
1 |
37,476,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1896:Unc50
|
UTSW |
1 |
37,476,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Unc50
|
UTSW |
1 |
37,477,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1900:Unc50
|
UTSW |
1 |
37,477,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Unc50
|
UTSW |
1 |
37,471,710 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5974:Unc50
|
UTSW |
1 |
37,476,290 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6674:Unc50
|
UTSW |
1 |
37,476,539 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6918:Unc50
|
UTSW |
1 |
37,477,783 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6944:Unc50
|
UTSW |
1 |
37,471,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7648:Unc50
|
UTSW |
1 |
37,470,402 (GRCm39) |
missense |
probably benign |
|
|
R7666:Unc50
|
UTSW |
1 |
37,470,496 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7836:Unc50
|
UTSW |
1 |
37,476,377 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8768:Unc50
|
UTSW |
1 |
37,476,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9560:Unc50
|
UTSW |
1 |
37,476,248 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9796:Unc50
|
UTSW |
1 |
37,471,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation