Incidental Mutation 'R3056:Gpatch11'
ID |
265193 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpatch11
|
Ensembl Gene |
ENSMUSG00000050668 |
Gene Name |
G patch domain containing 11 |
Synonyms |
2310002B06Rik, Ccdc75 |
MMRRC Submission |
040565-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R3056 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
79142996-79155737 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79151272 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 228
(T228A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126814
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170759]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170759
AA Change: T228A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126814 Gene: ENSMUSG00000050668 AA Change: T228A
Domain | Start | End | E-Value | Type |
G_patch
|
71 |
117 |
5.8e-14 |
SMART |
DUF4187
|
195 |
263 |
1.51e-25 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
A |
G |
4: 144,401,268 (GRCm39) |
I72T |
probably benign |
Het |
Abca1 |
A |
T |
4: 53,127,626 (GRCm39) |
M131K |
probably benign |
Het |
Agbl1 |
C |
T |
7: 76,416,232 (GRCm39) |
T751M |
possibly damaging |
Het |
Asb14 |
A |
G |
14: 26,636,146 (GRCm39) |
I510V |
possibly damaging |
Het |
Bard1 |
A |
G |
1: 71,127,390 (GRCm39) |
V73A |
possibly damaging |
Het |
C6 |
T |
C |
15: 4,769,355 (GRCm39) |
I187T |
probably damaging |
Het |
Catsper3 |
T |
C |
13: 55,956,709 (GRCm39) |
S376P |
unknown |
Het |
Ccdc150 |
A |
G |
1: 54,328,001 (GRCm39) |
N361S |
possibly damaging |
Het |
Cntn5 |
A |
G |
9: 10,419,076 (GRCm39) |
L7P |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,280,491 (GRCm39) |
S2805P |
unknown |
Het |
Cxcr6 |
A |
T |
9: 123,639,529 (GRCm39) |
I177F |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,307,869 (GRCm39) |
D3061G |
possibly damaging |
Het |
Epas1 |
T |
C |
17: 87,138,409 (GRCm39) |
F835S |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,871,792 (GRCm39) |
R3533H |
probably benign |
Het |
Fxr1 |
A |
G |
3: 34,103,333 (GRCm39) |
E221G |
probably damaging |
Het |
Greb1 |
G |
T |
12: 16,738,592 (GRCm39) |
T1457K |
probably damaging |
Het |
Ighm |
T |
A |
12: 113,382,596 (GRCm39) |
|
probably benign |
Het |
Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
Lmx1b |
G |
A |
2: 33,457,297 (GRCm39) |
Q168* |
probably null |
Het |
Ltbp3 |
C |
A |
19: 5,801,434 (GRCm39) |
N659K |
probably benign |
Het |
Micos13 |
A |
G |
17: 56,915,889 (GRCm39) |
F55S |
probably damaging |
Het |
Mrpl20 |
G |
T |
4: 155,888,329 (GRCm39) |
V43F |
possibly damaging |
Het |
Nlgn1 |
T |
C |
3: 25,487,860 (GRCm39) |
N825S |
possibly damaging |
Het |
Or5d36 |
T |
A |
2: 87,901,583 (GRCm39) |
T48S |
probably benign |
Het |
Or5p67 |
A |
T |
7: 107,922,757 (GRCm39) |
V42E |
possibly damaging |
Het |
Or8k3b |
C |
A |
2: 86,520,896 (GRCm39) |
C141F |
possibly damaging |
Het |
Pccb |
C |
T |
9: 100,912,250 (GRCm39) |
R79Q |
probably damaging |
Het |
Peg10 |
G |
A |
6: 4,755,029 (GRCm39) |
R270H |
possibly damaging |
Het |
Pttg1ip2 |
A |
T |
5: 5,507,283 (GRCm39) |
|
probably null |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Slc4a4 |
T |
C |
5: 89,373,807 (GRCm39) |
V971A |
probably damaging |
Het |
Timm29 |
T |
C |
9: 21,504,887 (GRCm39) |
M185T |
probably damaging |
Het |
Tmem92 |
C |
T |
11: 94,669,873 (GRCm39) |
C86Y |
probably benign |
Het |
Tnfrsf8 |
C |
T |
4: 145,011,895 (GRCm39) |
|
probably null |
Het |
Tnks1bp1 |
T |
A |
2: 84,900,344 (GRCm39) |
C1433* |
probably null |
Het |
Utp14b |
T |
A |
1: 78,642,442 (GRCm39) |
D113E |
possibly damaging |
Het |
Vmn2r110 |
T |
A |
17: 20,803,360 (GRCm39) |
Y405F |
probably damaging |
Het |
Wiz |
A |
G |
17: 32,576,671 (GRCm39) |
S628P |
probably benign |
Het |
Xrcc4 |
T |
C |
13: 90,210,196 (GRCm39) |
T83A |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCGGACAAGTGGTTAGTC -3'
(R):5'- AGTCACTATTTCTTTGCAACGTCG -3'
Sequencing Primer
(F):5'- TTAGTCAGCTGAGACATGCC -3'
(R):5'- GGCCCCACACTGTTAACTGAATG -3'
|
Posted On |
2015-02-05 |