Incidental Mutation 'R8241:Gpatch8'
| ID |
637565 |
| 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: 0.596)
|
| Stock # |
R8241 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102366741-102447218 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102378347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 201
(E201G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120649
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143842]
|
| AlphaFold |
A2A6A1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000143842
AA Change: E201G
|
| SMART Domains |
Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621
AA Change: E201G
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 98.1%
|
| 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 |
|---|
| Abca6 |
T |
C |
11: 110,079,456 (GRCm39) |
R1233G |
probably null |
Het |
| Acacb |
A |
T |
5: 114,333,297 (GRCm39) |
I474F |
possibly damaging |
Het |
| Adora1 |
A |
T |
1: 134,131,062 (GRCm39) |
V203D |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,290,998 (GRCm39) |
S653G |
probably benign |
Het |
| Agtr1a |
T |
C |
13: 30,565,082 (GRCm39) |
V49A |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,984,659 (GRCm39) |
V1981A |
probably benign |
Het |
| Arhgap5 |
T |
G |
12: 52,565,098 (GRCm39) |
Y690D |
probably benign |
Het |
| Bbs9 |
A |
G |
9: 22,590,214 (GRCm39) |
I651V |
probably benign |
Het |
| Brms1 |
C |
T |
19: 5,096,007 (GRCm39) |
A27V |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,168,282 (GRCm39) |
V256A |
probably benign |
Het |
| Capg |
G |
T |
6: 72,533,236 (GRCm39) |
|
probably null |
Het |
| Chpt1 |
T |
C |
10: 88,288,953 (GRCm39) |
K154E |
|
Het |
| Cyp1b1 |
T |
C |
17: 80,021,223 (GRCm39) |
E173G |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fbxw27 |
T |
G |
9: 109,602,283 (GRCm39) |
N230T |
possibly damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,891,585 (GRCm39) |
T126A |
probably benign |
Het |
| Fut10 |
C |
A |
8: 31,750,034 (GRCm39) |
S440* |
probably null |
Het |
| Gbf1 |
T |
C |
19: 46,234,576 (GRCm39) |
V71A |
probably damaging |
Het |
| Hic2 |
A |
G |
16: 17,076,950 (GRCm39) |
Y593C |
probably damaging |
Het |
| Hlcs |
A |
T |
16: 94,068,677 (GRCm39) |
V181E |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,320,013 (GRCm39) |
I176N |
possibly damaging |
Het |
| Kcna2 |
G |
T |
3: 107,012,338 (GRCm39) |
K306N |
probably damaging |
Het |
| Kcnb1 |
A |
G |
2: 166,948,117 (GRCm39) |
Y244H |
probably damaging |
Het |
| Klhl8 |
C |
T |
5: 104,015,392 (GRCm39) |
V511I |
probably damaging |
Het |
| Mapk14 |
T |
A |
17: 28,934,374 (GRCm39) |
D88E |
possibly damaging |
Het |
| Marchf10 |
C |
A |
11: 105,280,741 (GRCm39) |
A515S |
probably benign |
Het |
| Mrpl1 |
T |
A |
5: 96,386,733 (GRCm39) |
L241I |
probably damaging |
Het |
| Mybpc1 |
A |
T |
10: 88,372,286 (GRCm39) |
N781K |
probably benign |
Het |
| Nfkb2 |
T |
A |
19: 46,296,054 (GRCm39) |
D186E |
probably benign |
Het |
| Or3a1b |
G |
A |
11: 74,013,035 (GRCm39) |
V307I |
probably benign |
Het |
| Plcl1 |
A |
G |
1: 55,734,976 (GRCm39) |
I106V |
probably benign |
Het |
| Ppp4r2 |
A |
G |
6: 100,842,044 (GRCm39) |
I168M |
probably damaging |
Het |
| Prpf4b |
A |
T |
13: 35,079,974 (GRCm39) |
K779N |
probably damaging |
Het |
| Qrich1 |
T |
C |
9: 108,433,760 (GRCm39) |
|
probably null |
Het |
| Rgs12 |
T |
C |
5: 35,123,117 (GRCm39) |
F300S |
probably damaging |
Het |
| Sart3 |
T |
A |
5: 113,884,029 (GRCm39) |
K661M |
probably benign |
Het |
| Scyl2 |
T |
C |
10: 89,489,971 (GRCm39) |
I464V |
possibly damaging |
Het |
| Sema5a |
A |
G |
15: 32,575,064 (GRCm39) |
T391A |
probably benign |
Het |
| Sh3bgr |
A |
G |
16: 96,025,070 (GRCm39) |
T183A |
unknown |
Het |
| Sh3rf3 |
C |
T |
10: 58,940,242 (GRCm39) |
P688S |
probably benign |
Het |
| Themis3 |
T |
C |
17: 66,866,962 (GRCm39) |
T93A |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 130,117,688 (GRCm39) |
S1402T |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,793,937 (GRCm39) |
D82E |
possibly damaging |
Het |
| Vmn1r223 |
T |
C |
13: 23,433,982 (GRCm39) |
F192S |
probably benign |
Het |
| Vmn2r98 |
A |
G |
17: 19,301,031 (GRCm39) |
K678E |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,875,047 (GRCm39) |
T1826N |
|
Het |
| Vps41 |
A |
G |
13: 19,033,168 (GRCm39) |
D633G |
possibly damaging |
Het |
| Wdr3 |
A |
T |
3: 100,057,259 (GRCm39) |
I448N |
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 |
|
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 |
|
|
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'- GAGATAGACACCGGCCCAATTC -3'
(R):5'- CCATGCCAGTGTTATGACATTG -3'
Sequencing Primer
(F):5'- AGCAGCCAGTGTTCATACTG -3'
(R):5'- CAGTGTTATGACATTGGTTCAGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation