Incidental Mutation 'IGL02007:Gpatch11'
ID |
182249 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpatch11
|
Ensembl Gene |
ENSMUSG00000050668 |
Gene Name |
G patch domain containing 11 |
Synonyms |
2310002B06Rik, Ccdc75 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.123)
|
Stock # |
IGL02007
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
79142996-79155737 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79149593 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 198
(T198A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126814
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170759]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000170759
AA Change: T198A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000126814 Gene: ENSMUSG00000050668 AA Change: T198A
Domain | Start | End | E-Value | Type |
G_patch
|
71 |
117 |
5.8e-14 |
SMART |
DUF4187
|
195 |
263 |
1.51e-25 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam28 |
C |
A |
14: 68,870,668 (GRCm39) |
R335L |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,716,862 (GRCm39) |
|
probably benign |
Het |
Calcrl |
A |
G |
2: 84,205,668 (GRCm39) |
C8R |
probably benign |
Het |
Cntn4 |
T |
A |
6: 106,632,490 (GRCm39) |
S505T |
probably benign |
Het |
Cyp3a16 |
T |
C |
5: 145,378,758 (GRCm39) |
|
probably benign |
Het |
Dync2i2 |
A |
G |
2: 29,928,402 (GRCm39) |
S75P |
probably benign |
Het |
Fhip1a |
G |
T |
3: 85,629,752 (GRCm39) |
P280T |
probably damaging |
Het |
H2-T15 |
G |
T |
17: 36,367,222 (GRCm39) |
N333K |
possibly damaging |
Het |
Heatr5a |
C |
A |
12: 51,962,941 (GRCm39) |
L986F |
probably damaging |
Het |
Ift172 |
A |
G |
5: 31,443,948 (GRCm39) |
I90T |
probably benign |
Het |
Igkv3-9 |
A |
G |
6: 70,565,445 (GRCm39) |
|
probably benign |
Het |
Iqsec1 |
G |
A |
6: 90,667,331 (GRCm39) |
P369S |
probably benign |
Het |
Myh1 |
C |
A |
11: 67,111,382 (GRCm39) |
T1607K |
probably benign |
Het |
Myo18b |
T |
C |
5: 113,022,838 (GRCm39) |
|
probably benign |
Het |
Nobox |
A |
G |
6: 43,284,472 (GRCm39) |
L58P |
probably damaging |
Het |
Nwd2 |
T |
A |
5: 63,962,042 (GRCm39) |
I542N |
possibly damaging |
Het |
Or4k51 |
A |
G |
2: 111,584,824 (GRCm39) |
T77A |
probably damaging |
Het |
Or5p54 |
A |
G |
7: 107,553,953 (GRCm39) |
Y35C |
probably damaging |
Het |
Osm |
C |
T |
11: 4,189,470 (GRCm39) |
R85W |
probably damaging |
Het |
Pcdh20 |
T |
C |
14: 88,707,031 (GRCm39) |
R90G |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,397,129 (GRCm39) |
|
probably benign |
Het |
Sec14l2 |
A |
G |
11: 4,061,114 (GRCm39) |
S116P |
probably benign |
Het |
Selenbp2 |
A |
C |
3: 94,605,461 (GRCm39) |
N96H |
possibly damaging |
Het |
Smarcal1 |
T |
C |
1: 72,635,099 (GRCm39) |
S393P |
probably damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,414,335 (GRCm39) |
Q103R |
probably damaging |
Het |
Tmem63c |
T |
C |
12: 87,119,647 (GRCm39) |
Y314H |
probably damaging |
Het |
Zfp663 |
A |
C |
2: 165,200,993 (GRCm39) |
S14A |
probably benign |
Het |
Zmynd10 |
A |
G |
9: 107,427,731 (GRCm39) |
N345S |
probably damaging |
Het |
|
Other mutations in Gpatch11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02125:Gpatch11
|
APN |
17 |
79,147,538 (GRCm39) |
missense |
probably benign |
0.21 |
IGL02183:Gpatch11
|
APN |
17 |
79,149,660 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02223:Gpatch11
|
APN |
17 |
79,152,608 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02224:Gpatch11
|
APN |
17 |
79,148,522 (GRCm39) |
splice site |
probably benign |
|
IGL03116:Gpatch11
|
APN |
17 |
79,151,282 (GRCm39) |
nonsense |
probably null |
|
FR4340:Gpatch11
|
UTSW |
17 |
79,149,603 (GRCm39) |
small insertion |
probably benign |
|
FR4342:Gpatch11
|
UTSW |
17 |
79,149,607 (GRCm39) |
small insertion |
probably benign |
|
FR4449:Gpatch11
|
UTSW |
17 |
79,149,610 (GRCm39) |
small insertion |
probably benign |
|
FR4449:Gpatch11
|
UTSW |
17 |
79,149,605 (GRCm39) |
small insertion |
probably benign |
|
FR4449:Gpatch11
|
UTSW |
17 |
79,149,597 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Gpatch11
|
UTSW |
17 |
79,149,604 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Gpatch11
|
UTSW |
17 |
79,149,609 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Gpatch11
|
UTSW |
17 |
79,149,600 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Gpatch11
|
UTSW |
17 |
79,149,601 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Gpatch11
|
UTSW |
17 |
79,149,600 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Gpatch11
|
UTSW |
17 |
79,149,599 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Gpatch11
|
UTSW |
17 |
79,149,609 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Gpatch11
|
UTSW |
17 |
79,149,602 (GRCm39) |
nonsense |
probably null |
|
R1670:Gpatch11
|
UTSW |
17 |
79,146,529 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1986:Gpatch11
|
UTSW |
17 |
79,151,266 (GRCm39) |
missense |
probably benign |
0.04 |
R2071:Gpatch11
|
UTSW |
17 |
79,148,514 (GRCm39) |
critical splice donor site |
probably null |
|
R3056:Gpatch11
|
UTSW |
17 |
79,151,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R4348:Gpatch11
|
UTSW |
17 |
79,148,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R4352:Gpatch11
|
UTSW |
17 |
79,148,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R5426:Gpatch11
|
UTSW |
17 |
79,148,663 (GRCm39) |
missense |
possibly damaging |
0.47 |
R5546:Gpatch11
|
UTSW |
17 |
79,149,548 (GRCm39) |
nonsense |
probably null |
|
R6681:Gpatch11
|
UTSW |
17 |
79,147,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R7221:Gpatch11
|
UTSW |
17 |
79,149,546 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7409:Gpatch11
|
UTSW |
17 |
79,146,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R7662:Gpatch11
|
UTSW |
17 |
79,146,484 (GRCm39) |
missense |
probably benign |
0.44 |
R8906:Gpatch11
|
UTSW |
17 |
79,145,289 (GRCm39) |
missense |
probably benign |
0.17 |
R9265:Gpatch11
|
UTSW |
17 |
79,146,547 (GRCm39) |
missense |
probably benign |
0.11 |
R9277:Gpatch11
|
UTSW |
17 |
79,148,446 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Posted On |
2014-05-07 |