Incidental Mutation 'R2939:Gpatch8'
ID |
264599 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpatch8
|
Ensembl Gene |
ENSMUSG00000034621 |
Gene Name |
G patch domain containing 8 |
Synonyms |
Fbm1, Gpatc8, ENSMUSG00000075516, 5430405G24Rik |
MMRRC Submission |
040516-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.570)
|
Stock # |
R2939 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
102366741-102447218 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102399010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 74
(V74A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120649
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143842]
|
AlphaFold |
A2A6A1 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000069673
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126804
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131573
|
Predicted Effect |
unknown
Transcript: ENSMUST00000143842
AA Change: V74A
|
SMART Domains |
Protein: ENSMUSP00000120649 Gene: ENSMUSG00000034621 AA Change: V74A
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 |
|
Meta Mutation Damage Score |
0.2203 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
98% (62/63) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl11 |
T |
C |
9: 107,808,409 (GRCm39) |
Y911H |
possibly damaging |
Het |
Arhgef26 |
A |
C |
3: 62,288,331 (GRCm39) |
K467T |
possibly damaging |
Het |
Armcx6 |
A |
T |
X: 133,650,625 (GRCm39) |
W69R |
probably damaging |
Het |
Asl |
T |
C |
5: 130,042,245 (GRCm39) |
Y277C |
probably damaging |
Het |
Atm |
T |
C |
9: 53,406,011 (GRCm39) |
Y1219C |
probably damaging |
Het |
Azin2 |
C |
T |
4: 128,828,397 (GRCm39) |
C270Y |
probably benign |
Het |
Brsk1 |
A |
T |
7: 4,711,139 (GRCm39) |
I545F |
possibly damaging |
Het |
Carm1 |
C |
A |
9: 21,490,692 (GRCm39) |
|
probably null |
Het |
Cfap410 |
A |
G |
10: 77,817,507 (GRCm39) |
N78S |
probably benign |
Het |
Cfap69 |
G |
A |
5: 5,694,432 (GRCm39) |
A143V |
probably damaging |
Het |
Cldn14 |
T |
C |
16: 93,716,192 (GRCm39) |
K218R |
probably damaging |
Het |
Col5a3 |
T |
C |
9: 20,706,954 (GRCm39) |
K714R |
unknown |
Het |
Crybg2 |
A |
G |
4: 133,809,745 (GRCm39) |
H1517R |
possibly damaging |
Het |
Dagla |
A |
C |
19: 10,233,728 (GRCm39) |
F382C |
probably damaging |
Het |
Dixdc1 |
G |
A |
9: 50,622,259 (GRCm39) |
A25V |
probably damaging |
Het |
Dock6 |
A |
G |
9: 21,750,496 (GRCm39) |
F473L |
possibly damaging |
Het |
Eif5 |
T |
C |
12: 111,506,713 (GRCm39) |
C102R |
probably damaging |
Het |
Faiml |
A |
G |
9: 99,114,527 (GRCm39) |
C121R |
probably damaging |
Het |
Fhdc1 |
A |
G |
3: 84,364,577 (GRCm39) |
V223A |
possibly damaging |
Het |
Garin4 |
T |
C |
1: 190,896,103 (GRCm39) |
D180G |
possibly damaging |
Het |
Haghl |
A |
G |
17: 26,004,060 (GRCm39) |
V8A |
possibly damaging |
Het |
Ksr1 |
A |
G |
11: 78,936,007 (GRCm39) |
|
probably null |
Het |
Lama5 |
A |
C |
2: 179,840,747 (GRCm39) |
Y584D |
probably damaging |
Het |
Lgi4 |
C |
T |
7: 30,767,253 (GRCm39) |
R427* |
probably null |
Het |
Lrriq1 |
T |
A |
10: 102,980,750 (GRCm39) |
S1462C |
probably damaging |
Het |
Map3k4 |
C |
T |
17: 12,480,157 (GRCm39) |
E682K |
probably damaging |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Nherf1 |
C |
T |
11: 115,071,270 (GRCm39) |
R335C |
probably damaging |
Het |
Nmnat2 |
C |
A |
1: 152,950,474 (GRCm39) |
S53Y |
probably damaging |
Het |
Or8b12i |
C |
A |
9: 20,082,061 (GRCm39) |
G269W |
probably benign |
Het |
Or8g34 |
G |
A |
9: 39,373,226 (GRCm39) |
M166I |
probably benign |
Het |
Pcsk7 |
C |
T |
9: 45,827,322 (GRCm39) |
A363V |
probably damaging |
Het |
Pdrg1 |
C |
T |
2: 152,854,355 (GRCm39) |
G62R |
probably damaging |
Het |
Pdzd7 |
A |
G |
19: 45,033,862 (GRCm39) |
I74T |
possibly damaging |
Het |
Plcb4 |
T |
C |
2: 135,781,123 (GRCm39) |
|
probably benign |
Het |
Pramel28 |
A |
G |
4: 143,693,247 (GRCm39) |
V77A |
probably benign |
Het |
Rnf25 |
A |
G |
1: 74,635,047 (GRCm39) |
V135A |
possibly damaging |
Het |
Rph3a |
A |
G |
5: 121,118,212 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Senp6 |
G |
A |
9: 80,051,124 (GRCm39) |
A1134T |
probably benign |
Het |
Slc1a6 |
G |
T |
10: 78,650,448 (GRCm39) |
*562L |
probably null |
Het |
Slc26a6 |
G |
A |
9: 108,734,236 (GRCm39) |
V206I |
probably benign |
Het |
Slc45a3 |
A |
G |
1: 131,905,637 (GRCm39) |
E206G |
probably damaging |
Het |
Smc1a |
T |
A |
X: 150,816,695 (GRCm39) |
Y516N |
probably damaging |
Het |
Smpd3 |
A |
G |
8: 106,984,039 (GRCm39) |
V560A |
probably benign |
Het |
Spata31g1 |
A |
G |
4: 42,972,946 (GRCm39) |
K760E |
probably benign |
Het |
Ssc4d |
T |
C |
5: 135,994,578 (GRCm39) |
T51A |
possibly damaging |
Het |
Suco |
A |
G |
1: 161,676,220 (GRCm39) |
I386T |
probably damaging |
Het |
Tecta |
A |
T |
9: 42,289,290 (GRCm39) |
M425K |
possibly damaging |
Het |
Tmprss11e |
G |
A |
5: 86,869,266 (GRCm39) |
R96W |
probably damaging |
Het |
Trim63 |
T |
C |
4: 134,050,308 (GRCm39) |
|
probably benign |
Het |
Trpv1 |
A |
G |
11: 73,145,675 (GRCm39) |
K403R |
probably damaging |
Het |
Ttc39d |
A |
G |
17: 80,524,982 (GRCm39) |
Y547C |
probably damaging |
Het |
Unc79 |
C |
T |
12: 102,957,684 (GRCm39) |
T33I |
probably damaging |
Het |
Usp47 |
G |
A |
7: 111,681,743 (GRCm39) |
S518N |
probably damaging |
Het |
Vmn2r22 |
T |
A |
6: 123,614,594 (GRCm39) |
D332V |
probably damaging |
Het |
Vmn2r55 |
A |
G |
7: 12,385,832 (GRCm39) |
L716P |
probably damaging |
Het |
Zfp558 |
T |
C |
9: 18,367,924 (GRCm39) |
N288S |
possibly 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 |
|
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 |
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'- GGCATCATTTACATCCTCAGTGC -3'
(R):5'- GTTTAGTCCCGGAAAGGAGG -3'
Sequencing Primer
(F):5'- TTACATCCTCAGTGCTTCAAAAACAG -3'
(R):5'- GGATCGGATGGAAGCTGTG -3'
|
Posted On |
2015-02-05 |