Incidental Mutation 'R5230:Gpatch8'
| ID |
403727 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpatch8
|
| Ensembl Gene |
ENSMUSG00000034621 |
| Gene Name |
G patch domain containing 8 |
| Synonyms |
Fbm1, Gpatc8, ENSMUSG00000075516, 5430405G24Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.570)
|
| Stock # |
R5230 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102366741-102447218 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102370404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1045
(S1045P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120649
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143842]
|
| AlphaFold |
A2A6A1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000069673
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143842
AA Change: S1045P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621
AA Change: S1045P
| Domain | Start | End | E-Value | Type |
|---|
|
G_patch
|
38 |
84 |
6.03e-12 |
SMART |
|
coiled coil region
|
89 |
130 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
136 |
160 |
6.4e0 |
SMART |
|
coiled coil region
|
183 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
246 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
307 |
391 |
1.55e-5 |
PROSPERO |
|
low complexity region
|
474 |
490 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
583 |
658 |
1.55e-5 |
PROSPERO |
|
low complexity region
|
666 |
687 |
N/A |
INTRINSIC |
|
low complexity region
|
691 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
753 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
772 |
N/A |
INTRINSIC |
|
low complexity region
|
798 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
885 |
N/A |
INTRINSIC |
|
low complexity region
|
887 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
1010 |
N/A |
INTRINSIC |
|
low complexity region
|
1166 |
1183 |
N/A |
INTRINSIC |
|
low complexity region
|
1208 |
1217 |
N/A |
INTRINSIC |
|
low complexity region
|
1326 |
1342 |
N/A |
INTRINSIC |
|
low complexity region
|
1345 |
1361 |
N/A |
INTRINSIC |
|
low complexity region
|
1379 |
1404 |
N/A |
INTRINSIC |
|
low complexity region
|
1438 |
1452 |
N/A |
INTRINSIC |
|
low complexity region
|
1463 |
1490 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,651,820 (GRCm39) |
N1296S |
probably damaging |
Het |
| Abca5 |
A |
T |
11: 110,210,686 (GRCm39) |
D164E |
probably benign |
Het |
| Adamts5 |
T |
C |
16: 85,666,956 (GRCm39) |
D512G |
probably damaging |
Het |
| Ankrd11 |
G |
A |
8: 123,617,216 (GRCm39) |
T2191I |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,986,171 (GRCm39) |
F270S |
possibly damaging |
Het |
| Bard1 |
A |
G |
1: 71,092,770 (GRCm39) |
|
probably null |
Het |
| Ccdc142 |
T |
C |
6: 83,084,777 (GRCm39) |
V591A |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,716,776 (GRCm39) |
E1613K |
unknown |
Het |
| Dnah9 |
T |
A |
11: 65,975,492 (GRCm39) |
H1519L |
probably damaging |
Het |
| Egf |
T |
C |
3: 129,511,673 (GRCm39) |
D498G |
possibly damaging |
Het |
| Enah |
A |
C |
1: 181,763,235 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,901,856 (GRCm39) |
N3056K |
possibly damaging |
Het |
| Gm4846 |
T |
A |
1: 166,317,748 (GRCm39) |
N223Y |
probably benign |
Het |
| Gm8104 |
A |
G |
14: 42,958,975 (GRCm39) |
N55S |
probably damaging |
Het |
| Haus4 |
A |
G |
14: 54,781,251 (GRCm39) |
M275T |
probably benign |
Het |
| Ighe |
T |
A |
12: 113,235,006 (GRCm39) |
T385S |
unknown |
Het |
| Ipo9 |
G |
A |
1: 135,347,808 (GRCm39) |
S78L |
probably damaging |
Het |
| Kif21b |
G |
A |
1: 136,099,411 (GRCm39) |
V1473M |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,052,078 (GRCm39) |
Y345* |
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Loxl3 |
A |
G |
6: 83,012,775 (GRCm39) |
T105A |
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,922,599 (GRCm39) |
S441P |
probably benign |
Het |
| Med12l |
C |
T |
3: 59,153,209 (GRCm39) |
T1078I |
probably damaging |
Het |
| Mef2c |
T |
A |
13: 83,801,026 (GRCm39) |
M242K |
possibly damaging |
Het |
| Morc2b |
A |
G |
17: 33,355,226 (GRCm39) |
Y849H |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,971,004 (GRCm39) |
V1003E |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,393,674 (GRCm39) |
M1135K |
possibly damaging |
Het |
| Nckap1l |
A |
T |
15: 103,392,066 (GRCm39) |
I834F |
probably benign |
Het |
| Nrg1 |
T |
A |
8: 32,308,507 (GRCm39) |
Y503F |
probably damaging |
Het |
| Numa1 |
T |
C |
7: 101,644,731 (GRCm39) |
S236P |
possibly damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,734 (GRCm39) |
I104N |
probably benign |
Het |
| Pcdhga2 |
T |
C |
18: 37,802,795 (GRCm39) |
V213A |
probably benign |
Het |
| Pdzd2 |
A |
T |
15: 12,390,119 (GRCm39) |
M826K |
probably damaging |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Rnf38 |
T |
C |
4: 44,149,176 (GRCm39) |
Q57R |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,618,157 (GRCm39) |
T219A |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,183,248 (GRCm39) |
N263K |
probably benign |
Het |
| Spef2 |
T |
G |
15: 9,667,316 (GRCm39) |
I791L |
possibly damaging |
Het |
| Sv2a |
T |
C |
3: 96,092,776 (GRCm39) |
C159R |
probably damaging |
Het |
| Tbc1d31 |
T |
A |
15: 57,824,315 (GRCm39) |
L859Q |
probably damaging |
Het |
| Tecta |
C |
A |
9: 42,306,239 (GRCm39) |
R63L |
probably damaging |
Het |
| Tex52 |
A |
G |
6: 128,361,779 (GRCm39) |
E252G |
probably damaging |
Het |
| Tnfsf13b |
A |
G |
8: 10,081,608 (GRCm39) |
I257V |
possibly damaging |
Het |
| Tpk1 |
A |
G |
6: 43,400,653 (GRCm39) |
L172P |
probably damaging |
Het |
| Trim3 |
T |
G |
7: 105,268,720 (GRCm39) |
N78T |
possibly damaging |
Het |
| Try5 |
A |
G |
6: 41,289,312 (GRCm39) |
V88A |
probably benign |
Het |
| Vmn1r222 |
T |
G |
13: 23,417,172 (GRCm39) |
M14L |
probably benign |
Het |
| Wdr90 |
A |
T |
17: 26,074,277 (GRCm39) |
V678E |
probably benign |
Het |
| Zan |
A |
G |
5: 137,452,340 (GRCm39) |
L1543P |
unknown |
Het |
|
| Other mutations in Gpatch8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Gpatch8
|
APN |
11 |
102,369,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00590:Gpatch8
|
APN |
11 |
102,371,375 (GRCm39) |
missense |
unknown |
|
|
IGL00835:Gpatch8
|
APN |
11 |
102,369,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00971:Gpatch8
|
APN |
11 |
102,370,743 (GRCm39) |
missense |
unknown |
|
|
IGL01395:Gpatch8
|
APN |
11 |
102,371,534 (GRCm39) |
missense |
unknown |
|
|
IGL02386:Gpatch8
|
APN |
11 |
102,398,983 (GRCm39) |
missense |
unknown |
|
|
IGL02476:Gpatch8
|
APN |
11 |
102,369,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02809:Gpatch8
|
APN |
11 |
102,378,416 (GRCm39) |
missense |
unknown |
|
|
IGL02985:Gpatch8
|
APN |
11 |
102,372,336 (GRCm39) |
missense |
unknown |
|
|
IGL03013:Gpatch8
|
APN |
11 |
102,399,023 (GRCm39) |
missense |
unknown |
|
|
PIT4810001:Gpatch8
|
UTSW |
11 |
102,372,668 (GRCm39) |
missense |
unknown |
|
|
R0332:Gpatch8
|
UTSW |
11 |
102,372,668 (GRCm39) |
missense |
unknown |
|
|
R0464:Gpatch8
|
UTSW |
11 |
102,371,712 (GRCm39) |
missense |
unknown |
|
|
R0710:Gpatch8
|
UTSW |
11 |
102,372,759 (GRCm39) |
missense |
unknown |
|
|
R0734:Gpatch8
|
UTSW |
11 |
102,372,226 (GRCm39) |
missense |
unknown |
|
|
R1458:Gpatch8
|
UTSW |
11 |
102,372,055 (GRCm39) |
missense |
unknown |
|
|
R1919:Gpatch8
|
UTSW |
11 |
102,398,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2007:Gpatch8
|
UTSW |
11 |
102,391,657 (GRCm39) |
missense |
unknown |
|
|
R2495:Gpatch8
|
UTSW |
11 |
102,369,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2881:Gpatch8
|
UTSW |
11 |
102,370,743 (GRCm39) |
missense |
unknown |
|
|
R2939:Gpatch8
|
UTSW |
11 |
102,399,010 (GRCm39) |
missense |
unknown |
|
|
R4672:Gpatch8
|
UTSW |
11 |
102,369,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Gpatch8
|
UTSW |
11 |
102,370,959 (GRCm39) |
missense |
unknown |
|
|
R4931:Gpatch8
|
UTSW |
11 |
102,372,050 (GRCm39) |
missense |
unknown |
|
|
R5288:Gpatch8
|
UTSW |
11 |
102,399,053 (GRCm39) |
splice site |
probably null |
|
|
R5384:Gpatch8
|
UTSW |
11 |
102,399,053 (GRCm39) |
splice site |
probably null |
|
|
R5386:Gpatch8
|
UTSW |
11 |
102,399,053 (GRCm39) |
splice site |
probably null |
|
|
R5564:Gpatch8
|
UTSW |
11 |
102,429,111 (GRCm39) |
missense |
unknown |
|
|
R5668:Gpatch8
|
UTSW |
11 |
102,391,693 (GRCm39) |
missense |
unknown |
|
|
R5954:Gpatch8
|
UTSW |
11 |
102,371,767 (GRCm39) |
missense |
unknown |
|
|
R5966:Gpatch8
|
UTSW |
11 |
102,371,058 (GRCm39) |
missense |
unknown |
|
|
R6018:Gpatch8
|
UTSW |
11 |
102,371,741 (GRCm39) |
missense |
unknown |
|
|
R6176:Gpatch8
|
UTSW |
11 |
102,378,350 (GRCm39) |
missense |
unknown |
|
|
R6388:Gpatch8
|
UTSW |
11 |
102,369,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7153:Gpatch8
|
UTSW |
11 |
102,371,014 (GRCm39) |
small insertion |
probably benign |
|
|
R7155:Gpatch8
|
UTSW |
11 |
102,371,014 (GRCm39) |
small insertion |
probably benign |
|
|
R7163:Gpatch8
|
UTSW |
11 |
102,371,014 (GRCm39) |
small insertion |
probably benign |
|
|
R7238:Gpatch8
|
UTSW |
11 |
102,369,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7407:Gpatch8
|
UTSW |
11 |
102,370,656 (GRCm39) |
missense |
unknown |
|
|
R7825:Gpatch8
|
UTSW |
11 |
102,372,268 (GRCm39) |
missense |
unknown |
|
|
R8205:Gpatch8
|
UTSW |
11 |
102,371,213 (GRCm39) |
missense |
unknown |
|
|
R8241:Gpatch8
|
UTSW |
11 |
102,378,347 (GRCm39) |
missense |
unknown |
|
|
R8805:Gpatch8
|
UTSW |
11 |
102,371,018 (GRCm39) |
missense |
unknown |
|
|
R8847:Gpatch8
|
UTSW |
11 |
102,372,010 (GRCm39) |
missense |
unknown |
|
|
R9156:Gpatch8
|
UTSW |
11 |
102,370,299 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1088:Gpatch8
|
UTSW |
11 |
102,371,771 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCTCTAGCAGCAGTCTGG -3'
(R):5'- CAAGGGAGCGATCAAGATCC -3'
Sequencing Primer
(F):5'- TCTAGCAGCAGTCTGGCAGTAAC -3'
(R):5'- AGTAGCAGCTGTAGTCGCAGTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation