Incidental Mutation 'R5036:Gpatch3'
| ID |
389531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpatch3
|
| Ensembl Gene |
ENSMUSG00000028850 |
| Gene Name |
G patch domain containing 3 |
| Synonyms |
Gpatc3, D930035B09Rik |
| MMRRC Submission |
042627-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5036 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133302056-133311553 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133305461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 232
(Y232C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030662]
|
| AlphaFold |
Q8BIY1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030662
AA Change: Y232C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030662
Gene: ENSMUSG00000028850
AA Change: Y232C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
83 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
305 |
N/A |
INTRINSIC |
|
G_patch
|
409 |
457 |
1.3e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154648
|
| Meta Mutation Damage Score |
0.7317 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.1%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
G |
A |
7: 41,275,578 (GRCm39) |
G427D |
possibly damaging |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| C4b |
T |
A |
17: 34,959,419 (GRCm39) |
|
probably null |
Het |
| Cabyr |
A |
T |
18: 12,884,303 (GRCm39) |
E263D |
probably damaging |
Het |
| Car1 |
A |
T |
3: 14,841,299 (GRCm39) |
D45E |
possibly damaging |
Het |
| Col25a1 |
T |
C |
3: 130,376,978 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
G |
T |
6: 73,021,674 (GRCm39) |
S3549R |
probably benign |
Het |
| Dync1h1 |
A |
T |
12: 110,596,969 (GRCm39) |
I1639F |
probably damaging |
Het |
| Fhad1 |
A |
T |
4: 141,648,052 (GRCm39) |
D271E |
probably benign |
Het |
| Gle1 |
T |
C |
2: 29,826,223 (GRCm39) |
S101P |
probably benign |
Het |
| Gm4781 |
C |
A |
10: 100,232,851 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2ird2 |
A |
G |
5: 134,246,349 (GRCm39) |
N869S |
probably damaging |
Het |
| Ifi204 |
G |
A |
1: 173,580,311 (GRCm39) |
P400S |
possibly damaging |
Het |
| Ighv2-2 |
T |
C |
12: 113,552,092 (GRCm39) |
T49A |
possibly damaging |
Het |
| Itsn1 |
T |
A |
16: 91,579,123 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
A |
T |
4: 155,740,745 (GRCm39) |
N626K |
probably damaging |
Het |
| Nf1 |
C |
A |
11: 79,337,690 (GRCm39) |
Q1098K |
probably damaging |
Het |
| Odc1 |
C |
A |
12: 17,598,020 (GRCm39) |
Q116K |
probably damaging |
Het |
| Otof |
C |
T |
5: 30,541,783 (GRCm39) |
E761K |
possibly damaging |
Het |
| Palld |
A |
T |
8: 62,003,196 (GRCm39) |
V301D |
probably damaging |
Het |
| Pask |
A |
T |
1: 93,249,801 (GRCm39) |
L533* |
probably null |
Het |
| Plekhh2 |
T |
C |
17: 84,879,189 (GRCm39) |
S638P |
probably damaging |
Het |
| Scaf8 |
T |
A |
17: 3,214,537 (GRCm39) |
|
probably benign |
Het |
| Sdccag8 |
G |
T |
1: 176,839,541 (GRCm39) |
R695L |
probably damaging |
Het |
| Serpina1c |
A |
G |
12: 103,865,085 (GRCm39) |
I187T |
probably damaging |
Het |
| Slitrk5 |
G |
T |
14: 111,918,316 (GRCm39) |
G647W |
possibly damaging |
Het |
| Sycp1 |
T |
A |
3: 102,727,916 (GRCm39) |
K899M |
probably damaging |
Het |
| Taok1 |
G |
A |
11: 77,440,157 (GRCm39) |
R617C |
probably benign |
Het |
| Tbc1d32 |
A |
C |
10: 56,071,500 (GRCm39) |
Y341* |
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,343,997 (GRCm39) |
N267D |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,501,768 (GRCm39) |
V1287A |
probably damaging |
Het |
| Tsga10 |
A |
T |
1: 37,823,049 (GRCm39) |
V488E |
possibly damaging |
Het |
| Ttc39c |
G |
T |
18: 12,820,138 (GRCm39) |
|
probably null |
Het |
| Uck1 |
A |
T |
2: 32,148,478 (GRCm39) |
|
probably benign |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,419 (GRCm39) |
I306V |
probably benign |
Het |
|
| Other mutations in Gpatch3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01590:Gpatch3
|
APN |
4 |
133,308,028 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02876:Gpatch3
|
APN |
4 |
133,307,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03181:Gpatch3
|
APN |
4 |
133,305,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU23:Gpatch3
|
UTSW |
4 |
133,305,613 (GRCm39) |
small deletion |
probably benign |
|
|
PIT4585001:Gpatch3
|
UTSW |
4 |
133,310,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0358:Gpatch3
|
UTSW |
4 |
133,305,215 (GRCm39) |
splice site |
probably null |
|
|
R0383:Gpatch3
|
UTSW |
4 |
133,305,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1706:Gpatch3
|
UTSW |
4 |
133,302,484 (GRCm39) |
nonsense |
probably null |
|
|
R2269:Gpatch3
|
UTSW |
4 |
133,311,118 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3788:Gpatch3
|
UTSW |
4 |
133,302,479 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4030:Gpatch3
|
UTSW |
4 |
133,305,458 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4334:Gpatch3
|
UTSW |
4 |
133,309,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4718:Gpatch3
|
UTSW |
4 |
133,309,855 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6032:Gpatch3
|
UTSW |
4 |
133,305,617 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6032:Gpatch3
|
UTSW |
4 |
133,305,617 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6572:Gpatch3
|
UTSW |
4 |
133,302,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6923:Gpatch3
|
UTSW |
4 |
133,309,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7106:Gpatch3
|
UTSW |
4 |
133,305,514 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7572:Gpatch3
|
UTSW |
4 |
133,302,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7737:Gpatch3
|
UTSW |
4 |
133,302,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7937:Gpatch3
|
UTSW |
4 |
133,310,308 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8300:Gpatch3
|
UTSW |
4 |
133,307,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9541:Gpatch3
|
UTSW |
4 |
133,305,595 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF025:Gpatch3
|
UTSW |
4 |
133,305,621 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAATGAAGCTTTTACCCTGGC -3'
(R):5'- CTCTGCAAAGTGCTACACTACTTAC -3'
Sequencing Primer
(F):5'- TTACCCTGGCTGACCTGAAG -3'
(R):5'- ACTTACCTCTTCTGAGCCAGAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation