Incidental Mutation 'IGL01553:Gm17175'
| ID |
90624 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm17175
|
| Ensembl Gene |
ENSMUSG00000091142 |
| Gene Name |
predicted gene 17175 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL01553
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
51806349-51811520 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51808279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 171
(D171G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096170]
[ENSMUST00000162998]
[ENSMUST00000172117]
|
| AlphaFold |
E9Q528 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096170
|
| SMART Domains |
Protein: ENSMUSP00000093884
Gene: ENSMUSG00000079244
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
56 |
144 |
1.3e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162998
|
| SMART Domains |
Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172117
AA Change: D171G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127078
Gene: ENSMUSG00000091142
AA Change: D171G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
23 |
103 |
3.3e-26 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c13 |
T |
A |
13: 4,244,774 (GRCm39) |
H117Q |
probably damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,943,944 (GRCm39) |
N188S |
probably damaging |
Het |
| Bach1 |
T |
A |
16: 87,519,393 (GRCm39) |
I561N |
probably damaging |
Het |
| Bsph2 |
G |
T |
7: 13,290,645 (GRCm39) |
T78K |
probably damaging |
Het |
| Ccdc178 |
A |
G |
18: 22,048,063 (GRCm39) |
Y776H |
probably damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,753,072 (GRCm39) |
|
probably benign |
Het |
| Cenpp |
C |
T |
13: 49,618,252 (GRCm39) |
V218M |
probably damaging |
Het |
| Dnmt3l |
A |
G |
10: 77,899,082 (GRCm39) |
S94G |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,833,803 (GRCm39) |
Y1839* |
probably null |
Het |
| Gabra6 |
T |
A |
11: 42,206,023 (GRCm39) |
T278S |
probably damaging |
Het |
| Galnt11 |
G |
A |
5: 25,452,718 (GRCm39) |
D77N |
probably benign |
Het |
| Iqch |
T |
C |
9: 63,408,199 (GRCm39) |
N655S |
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,234,024 (GRCm39) |
I786N |
probably damaging |
Het |
| Macf1 |
G |
A |
4: 123,386,956 (GRCm39) |
Q976* |
probably null |
Het |
| Mbtd1 |
T |
A |
11: 93,814,040 (GRCm39) |
C228S |
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,776,415 (GRCm39) |
L46P |
probably damaging |
Het |
| Niban3 |
G |
T |
8: 72,055,546 (GRCm39) |
A319S |
possibly damaging |
Het |
| Nup133 |
A |
G |
8: 124,642,063 (GRCm39) |
V800A |
possibly damaging |
Het |
| Or5h23 |
G |
T |
16: 58,906,685 (GRCm39) |
H54N |
probably benign |
Het |
| Prkca |
C |
T |
11: 107,948,660 (GRCm39) |
G110R |
probably benign |
Het |
| Samd9l |
A |
T |
6: 3,375,566 (GRCm39) |
M565K |
probably damaging |
Het |
| Scgn |
T |
C |
13: 24,143,662 (GRCm39) |
Q77R |
probably benign |
Het |
| Serpinb6b |
T |
C |
13: 33,158,931 (GRCm39) |
L44P |
probably damaging |
Het |
| Tfrc |
T |
C |
16: 32,447,403 (GRCm39) |
V673A |
probably benign |
Het |
| Tsfm |
G |
A |
10: 126,864,259 (GRCm39) |
T152M |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,047,897 (GRCm39) |
C1803S |
probably benign |
Het |
|
| Other mutations in Gm17175 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Gm17175
|
APN |
14 |
51,810,526 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01347:Gm17175
|
APN |
14 |
51,808,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02436:Gm17175
|
APN |
14 |
51,807,108 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02485:Gm17175
|
APN |
14 |
51,807,068 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03171:Gm17175
|
APN |
14 |
51,809,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4120:Gm17175
|
UTSW |
14 |
51,810,534 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4614:Gm17175
|
UTSW |
14 |
51,809,042 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6496:Gm17175
|
UTSW |
14 |
51,810,534 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6817:Gm17175
|
UTSW |
14 |
51,810,478 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7000:Gm17175
|
UTSW |
14 |
51,811,418 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7814:Gm17175
|
UTSW |
14 |
51,811,492 (GRCm39) |
start gained |
probably benign |
|
|
R8074:Gm17175
|
UTSW |
14 |
51,809,080 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8423:Gm17175
|
UTSW |
14 |
51,809,070 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9608:Gm17175
|
UTSW |
14 |
51,809,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-12-09 |
Incidental Mutation