Incidental Mutation 'IGL03116:Gpatch11'
| ID |
419430 |
| 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 # |
IGL03116
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
79142996-79155737 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 79151282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 231
(L231*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170759]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000170759
AA Change: L231*
|
| SMART Domains |
Protein: ENSMUSP00000126814
Gene: ENSMUSG00000050668
AA Change: L231*
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810030O07Rik |
T |
C |
X: 12,535,892 (GRCm39) |
|
probably benign |
Het |
| 9530068E07Rik |
A |
G |
11: 52,294,331 (GRCm39) |
I199V |
probably benign |
Het |
| Aasdh |
A |
T |
5: 77,049,936 (GRCm39) |
|
probably null |
Het |
| Aatk |
T |
C |
11: 119,907,577 (GRCm39) |
I84V |
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,100,071 (GRCm39) |
H727R |
probably benign |
Het |
| Aff2 |
T |
C |
X: 68,878,092 (GRCm39) |
V626A |
probably benign |
Het |
| Ano2 |
C |
A |
6: 125,957,134 (GRCm39) |
Y634* |
probably null |
Het |
| Apob |
C |
A |
12: 8,066,350 (GRCm39) |
Q4407K |
probably damaging |
Het |
| Asz1 |
T |
C |
6: 18,076,642 (GRCm39) |
|
probably benign |
Het |
| Atp2b4 |
T |
G |
1: 133,656,506 (GRCm39) |
T715P |
possibly damaging |
Het |
| Brip1 |
G |
T |
11: 85,955,735 (GRCm39) |
S926* |
probably null |
Het |
| Cpd |
A |
T |
11: 76,702,539 (GRCm39) |
Y610N |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,707,057 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
G |
A |
2: 180,312,772 (GRCm39) |
T1041I |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,973,749 (GRCm39) |
T658S |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,612,359 (GRCm39) |
S661T |
probably benign |
Het |
| Fcer1a |
G |
A |
1: 173,049,128 (GRCm39) |
Q172* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,339,435 (GRCm39) |
E576G |
possibly damaging |
Het |
| Gcsam |
T |
C |
16: 45,440,431 (GRCm39) |
F136S |
possibly damaging |
Het |
| Glmn |
T |
G |
5: 107,698,949 (GRCm39) |
T430P |
probably damaging |
Het |
| Gm5934 |
T |
C |
X: 24,340,931 (GRCm39) |
N194S |
probably benign |
Het |
| Hibadh |
A |
T |
6: 52,525,917 (GRCm39) |
N244K |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,684,060 (GRCm39) |
V723A |
probably damaging |
Het |
| Kcnn2 |
A |
T |
18: 45,788,273 (GRCm39) |
D192V |
probably damaging |
Het |
| Ksr2 |
G |
A |
5: 117,846,022 (GRCm39) |
E630K |
probably benign |
Het |
| Lmod3 |
T |
C |
6: 97,224,156 (GRCm39) |
H555R |
possibly damaging |
Het |
| Mycs |
A |
G |
X: 5,380,922 (GRCm39) |
F53L |
probably damaging |
Het |
| Ndufa10 |
G |
A |
1: 92,392,109 (GRCm39) |
Q215* |
probably null |
Het |
| Ninl |
C |
T |
2: 150,806,139 (GRCm39) |
A361T |
probably damaging |
Het |
| Pbsn |
A |
G |
X: 76,891,624 (GRCm39) |
C58R |
probably damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,280,335 (GRCm39) |
L720Q |
probably damaging |
Het |
| Prss12 |
T |
C |
3: 123,299,925 (GRCm39) |
F679L |
probably benign |
Het |
| Sohlh1 |
C |
T |
2: 25,735,660 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
C |
6: 48,471,035 (GRCm39) |
F701L |
probably benign |
Het |
| Tdp1 |
T |
C |
12: 99,921,290 (GRCm39) |
S609P |
probably benign |
Het |
| Tmtc4 |
T |
A |
14: 123,165,044 (GRCm39) |
N605I |
probably benign |
Het |
| Tnc |
G |
A |
4: 63,932,270 (GRCm39) |
P715S |
probably damaging |
Het |
| Ubn2 |
T |
C |
6: 38,468,834 (GRCm39) |
S1181P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,206,892 (GRCm39) |
|
probably benign |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,898 (GRCm39) |
F249S |
probably benign |
Het |
| Zfp382 |
T |
C |
7: 29,833,614 (GRCm39) |
S422P |
probably damaging |
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 |
|
IGL02224:Gpatch11
|
APN |
17 |
79,148,522 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation