Incidental Mutation 'R7407:Gpatch8'
| ID |
574805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpatch8
|
| Ensembl Gene |
ENSMUSG00000034621 |
| Gene Name |
G patch domain containing 8 |
| Synonyms |
Fbm1, Gpatc8, ENSMUSG00000075516, 5430405G24Rik |
| MMRRC Submission |
045488-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.570)
|
| Stock # |
R7407 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102366741-102447218 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 102370656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 961
(R961W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120649
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143842]
|
| AlphaFold |
A2A6A1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000143842
AA Change: R961W
|
| SMART Domains |
Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621
AA Change: R961W
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
A |
G |
7: 50,249,626 (GRCm39) |
N220S |
probably damaging |
Het |
| Abcb8 |
T |
C |
5: 24,605,674 (GRCm39) |
V186A |
probably benign |
Het |
| Actbl2 |
A |
T |
13: 111,392,752 (GRCm39) |
E362D |
probably damaging |
Het |
| Adamts17 |
C |
A |
7: 66,697,304 (GRCm39) |
Y28* |
probably null |
Het |
| Agtr1b |
T |
C |
3: 20,369,895 (GRCm39) |
D237G |
possibly damaging |
Het |
| Amer2 |
A |
G |
14: 60,616,291 (GRCm39) |
D162G |
probably damaging |
Het |
| Ankub1 |
T |
C |
3: 57,572,624 (GRCm39) |
E366G |
probably benign |
Het |
| Ap5z1 |
A |
G |
5: 142,452,330 (GRCm39) |
I88V |
probably benign |
Het |
| Ccdc186 |
T |
C |
19: 56,801,817 (GRCm39) |
N100S |
probably benign |
Het |
| Cldn19 |
A |
G |
4: 119,112,882 (GRCm39) |
D38G |
probably damaging |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Deaf1 |
G |
A |
7: 140,877,492 (GRCm39) |
A545V |
possibly damaging |
Het |
| Dicer1 |
G |
T |
12: 104,688,610 (GRCm39) |
Y322* |
probably null |
Het |
| Dnajb7 |
G |
T |
15: 81,291,827 (GRCm39) |
T170K |
possibly damaging |
Het |
| Flrt2 |
A |
T |
12: 95,746,074 (GRCm39) |
E137D |
probably damaging |
Het |
| Galnt12 |
T |
C |
4: 47,120,362 (GRCm39) |
F482L |
probably damaging |
Het |
| Gm32742 |
A |
G |
9: 51,067,974 (GRCm39) |
V336A |
probably damaging |
Het |
| Hcn4 |
A |
G |
9: 58,766,653 (GRCm39) |
E738G |
unknown |
Het |
| Kdelr3 |
A |
G |
15: 79,409,039 (GRCm39) |
Y76C |
probably damaging |
Het |
| Krt77 |
T |
C |
15: 101,768,530 (GRCm39) |
S494G |
unknown |
Het |
| Letmd1 |
G |
T |
15: 100,367,119 (GRCm39) |
A39S |
probably benign |
Het |
| Lrrc7 |
G |
A |
3: 157,840,878 (GRCm39) |
R1387W |
probably damaging |
Het |
| Meltf |
T |
C |
16: 31,713,553 (GRCm39) |
Y599H |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,385,209 (GRCm39) |
I477L |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,338,969 (GRCm39) |
D1174G |
probably damaging |
Het |
| Or2t6 |
T |
A |
14: 14,175,402 (GRCm38) |
I227L |
probably benign |
Het |
| Or8b44 |
T |
A |
9: 38,410,800 (GRCm39) |
Y278* |
probably null |
Het |
| Palld |
G |
T |
8: 61,968,975 (GRCm39) |
S1283* |
probably null |
Het |
| Pcmtd2 |
T |
C |
2: 181,488,398 (GRCm39) |
V183A |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,652,880 (GRCm39) |
I269F |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,568 (GRCm39) |
L4036P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,458,407 (GRCm39) |
N4151S |
possibly damaging |
Het |
| Rcor3 |
C |
T |
1: 191,785,972 (GRCm39) |
S422N |
probably benign |
Het |
| Rhag |
A |
G |
17: 41,142,225 (GRCm39) |
I223V |
possibly damaging |
Het |
| Ssbp4 |
A |
G |
8: 71,051,672 (GRCm39) |
Y231H |
probably damaging |
Het |
| Syce1l |
C |
T |
8: 114,381,770 (GRCm39) |
Q237* |
probably null |
Het |
| Tenm4 |
T |
C |
7: 96,423,194 (GRCm39) |
V663A |
possibly damaging |
Het |
| Timd6 |
A |
G |
11: 46,468,217 (GRCm39) |
Y97C |
probably damaging |
Het |
| Trim6 |
T |
C |
7: 103,875,108 (GRCm39) |
I115T |
probably damaging |
Het |
| Vinac1 |
A |
G |
2: 128,880,729 (GRCm39) |
I399T |
|
Het |
| Vmn1r25 |
T |
A |
6: 57,956,044 (GRCm39) |
T82S |
possibly damaging |
Het |
| Vmn2r28 |
A |
G |
7: 5,484,308 (GRCm39) |
S631P |
probably damaging |
Het |
| Xpo1 |
T |
A |
11: 23,235,823 (GRCm39) |
V637E |
probably damaging |
Het |
| Xpo6 |
A |
T |
7: 125,770,224 (GRCm39) |
M62K |
probably damaging |
Het |
| Ypel5 |
A |
G |
17: 73,153,374 (GRCm39) |
N26S |
possibly damaging |
Het |
| Zbtb24 |
C |
A |
10: 41,340,775 (GRCm39) |
Q624K |
possibly damaging |
Het |
| Zfp629 |
T |
C |
7: 127,209,415 (GRCm39) |
D798G |
probably benign |
Het |
| Zfp687 |
C |
T |
3: 94,914,841 (GRCm39) |
R1220H |
probably damaging |
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 |
|
|
R5230:Gpatch8
|
UTSW |
11 |
102,370,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CTTTGAACGAATGAAATCCCGGC -3'
(R):5'- CTATAGCGACCGATCACGAAGG -3'
Sequencing Primer
(F):5'- AGAGCGCCTTTCCTCTGG -3'
(R):5'- GAAGGCACTCTAAGCGCTCTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation