Incidental Mutation 'IGL02224:Gpatch11'
ID |
285290 |
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: 0.111)
|
Stock # |
IGL02224
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
79142996-79155737 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 79148522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000126814 Gene: ENSMUSG00000050668
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c12 |
T |
A |
13: 4,329,289 (GRCm39) |
T23S |
probably damaging |
Het |
Alpk3 |
G |
A |
7: 80,726,616 (GRCm39) |
|
probably benign |
Het |
Atp8b3 |
A |
G |
10: 80,361,810 (GRCm39) |
|
probably benign |
Het |
Atr |
C |
T |
9: 95,760,682 (GRCm39) |
R1051C |
probably damaging |
Het |
B4galt2 |
T |
C |
4: 117,734,110 (GRCm39) |
D309G |
probably benign |
Het |
C130026L21Rik |
A |
G |
5: 111,730,291 (GRCm39) |
|
noncoding transcript |
Het |
Cadm3 |
A |
G |
1: 173,165,628 (GRCm39) |
I344T |
possibly damaging |
Het |
Cd101 |
T |
C |
3: 100,924,318 (GRCm39) |
T370A |
probably benign |
Het |
Col6a5 |
A |
T |
9: 105,741,534 (GRCm39) |
S2462T |
probably damaging |
Het |
Csf3r |
A |
T |
4: 125,937,332 (GRCm39) |
N739Y |
probably benign |
Het |
Ensa |
T |
C |
3: 95,535,990 (GRCm39) |
S108P |
probably benign |
Het |
Fancd2 |
T |
A |
6: 113,545,281 (GRCm39) |
|
probably null |
Het |
Fbp1 |
T |
A |
13: 63,035,821 (GRCm39) |
T13S |
probably damaging |
Het |
Flrt2 |
C |
A |
12: 95,746,802 (GRCm39) |
T380K |
possibly damaging |
Het |
Hagh |
A |
G |
17: 25,071,861 (GRCm39) |
D29G |
probably damaging |
Het |
Hmmr |
T |
C |
11: 40,600,831 (GRCm39) |
Q513R |
unknown |
Het |
Hoxb8 |
T |
C |
11: 96,173,981 (GRCm39) |
S65P |
probably benign |
Het |
Il4ra |
T |
C |
7: 125,169,271 (GRCm39) |
|
probably benign |
Het |
Lbp |
A |
G |
2: 158,148,669 (GRCm39) |
N27S |
probably damaging |
Het |
Msh4 |
G |
A |
3: 153,595,822 (GRCm39) |
T76I |
possibly damaging |
Het |
Nfat5 |
T |
C |
8: 108,071,447 (GRCm39) |
V281A |
probably benign |
Het |
Or10ag53 |
C |
T |
2: 87,082,821 (GRCm39) |
S180F |
probably benign |
Het |
Or13c25 |
A |
T |
4: 52,911,392 (GRCm39) |
V134D |
probably damaging |
Het |
Or4p20 |
C |
T |
2: 88,254,052 (GRCm39) |
|
probably null |
Het |
Or5b106 |
T |
A |
19: 13,123,120 (GRCm39) |
K301M |
probably damaging |
Het |
Or5w16 |
T |
A |
2: 87,576,757 (GRCm39) |
C72* |
probably null |
Het |
Phf11b |
A |
T |
14: 59,563,515 (GRCm39) |
|
probably benign |
Het |
Pik3c2a |
A |
G |
7: 115,962,575 (GRCm39) |
|
probably benign |
Het |
Prdx1 |
T |
A |
4: 116,549,064 (GRCm39) |
F66L |
probably damaging |
Het |
Prss39 |
A |
G |
1: 34,538,459 (GRCm39) |
H108R |
probably damaging |
Het |
Spta1 |
C |
A |
1: 174,045,255 (GRCm39) |
|
probably benign |
Het |
Tmem87b |
A |
G |
2: 128,676,127 (GRCm39) |
I297V |
possibly damaging |
Het |
Vmn1r191 |
T |
C |
13: 22,363,068 (GRCm39) |
R229G |
probably damaging |
Het |
Vmn2r113 |
A |
T |
17: 23,174,960 (GRCm39) |
R524* |
probably null |
Het |
Washc2 |
T |
A |
6: 116,197,530 (GRCm39) |
D254E |
possibly damaging |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
Zfp773 |
T |
C |
7: 7,135,975 (GRCm39) |
H207R |
probably benign |
Het |
|
Other mutations in Gpatch11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02007:Gpatch11
|
APN |
17 |
79,149,593 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
2015-04-16 |