Incidental Mutation 'R5564:Gpatch8'
| ID |
436759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpatch8
|
| Ensembl Gene |
ENSMUSG00000034621 |
| Gene Name |
G patch domain containing 8 |
| Synonyms |
Fbm1, Gpatc8, ENSMUSG00000075516, 5430405G24Rik |
| MMRRC Submission |
043121-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.596)
|
| Stock # |
R5564 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102366741-102447218 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102429111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 39
(E39D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120649
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143842]
|
| AlphaFold |
A2A6A1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126804
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131573
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000143842
AA Change: E39D
|
| SMART Domains |
Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621
AA Change: E39D
| 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 |
0.0834 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
98% (57/58) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
C |
3: 59,659,513 (GRCm39) |
V322A |
probably benign |
Het |
| Abca8b |
G |
T |
11: 109,825,407 (GRCm39) |
L1598M |
probably benign |
Het |
| Adam4 |
T |
C |
12: 81,466,348 (GRCm39) |
T758A |
probably benign |
Het |
| B3galnt2 |
T |
C |
13: 14,169,814 (GRCm39) |
I424T |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,321,312 (GRCm39) |
Y1316C |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,517,517 (GRCm39) |
S388P |
probably damaging |
Het |
| Ccdc157 |
A |
G |
11: 4,098,765 (GRCm39) |
L247S |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 99,757,498 (GRCm39) |
I700T |
possibly damaging |
Het |
| Cdhr3 |
G |
T |
12: 33,098,985 (GRCm39) |
Y535* |
probably null |
Het |
| Clasp2 |
T |
C |
9: 113,641,836 (GRCm39) |
|
probably null |
Het |
| Col16a1 |
T |
A |
4: 129,947,151 (GRCm39) |
D165E |
probably damaging |
Het |
| Col9a1 |
A |
T |
1: 24,234,436 (GRCm39) |
|
probably benign |
Het |
| Cpa3 |
A |
T |
3: 20,296,307 (GRCm39) |
I10N |
possibly damaging |
Het |
| Cstf3 |
T |
A |
2: 104,439,347 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
C |
A |
7: 119,570,689 (GRCm39) |
|
probably null |
Het |
| E2f6 |
T |
C |
12: 16,874,706 (GRCm39) |
C263R |
probably benign |
Het |
| Eps8l2 |
C |
A |
7: 140,936,534 (GRCm39) |
Q288K |
possibly damaging |
Het |
| Fam193a |
T |
A |
5: 34,578,199 (GRCm39) |
V231D |
probably damaging |
Het |
| Gjd3 |
C |
T |
11: 102,691,029 (GRCm39) |
G325S |
probably benign |
Het |
| Gpr107 |
C |
T |
2: 31,042,375 (GRCm39) |
A2V |
probably damaging |
Het |
| Kansl3 |
G |
T |
1: 36,385,045 (GRCm39) |
H629N |
possibly damaging |
Het |
| Kcna10 |
C |
A |
3: 107,101,545 (GRCm39) |
H59N |
probably benign |
Het |
| Kitl |
A |
T |
10: 99,915,886 (GRCm39) |
E138D |
possibly damaging |
Het |
| Kpna2 |
T |
C |
11: 106,881,571 (GRCm39) |
K353R |
probably damaging |
Het |
| M1ap |
T |
A |
6: 82,958,798 (GRCm39) |
I143N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,420,538 (GRCm39) |
S239P |
possibly damaging |
Het |
| Med13l |
T |
A |
5: 118,880,105 (GRCm39) |
S1066T |
probably damaging |
Het |
| Mettl23 |
G |
T |
11: 116,739,865 (GRCm39) |
E47* |
probably null |
Het |
| Or52i2 |
T |
C |
7: 102,319,433 (GRCm39) |
F102S |
probably damaging |
Het |
| Or5af1 |
C |
T |
11: 58,722,039 (GRCm39) |
Q20* |
probably null |
Het |
| Proca1 |
T |
A |
11: 78,092,699 (GRCm39) |
D48E |
possibly damaging |
Het |
| Rab34 |
T |
G |
11: 78,082,458 (GRCm39) |
V227G |
probably damaging |
Het |
| Rab7 |
A |
T |
6: 87,990,632 (GRCm39) |
L14Q |
probably damaging |
Het |
| Rasgef1c |
C |
T |
11: 49,847,934 (GRCm39) |
S23F |
probably benign |
Het |
| Rit1 |
A |
G |
3: 88,633,457 (GRCm39) |
|
probably benign |
Het |
| Scin |
T |
C |
12: 40,174,568 (GRCm39) |
T172A |
probably benign |
Het |
| Scmh1 |
C |
A |
4: 120,325,575 (GRCm39) |
N97K |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,846,162 (GRCm39) |
E655G |
possibly damaging |
Het |
| Slc22a15 |
A |
G |
3: 101,771,905 (GRCm39) |
V243A |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,789,042 (GRCm39) |
|
probably benign |
Het |
| Smim7 |
C |
T |
8: 73,324,867 (GRCm39) |
G3R |
probably damaging |
Het |
| Snurf |
C |
T |
7: 59,645,282 (GRCm39) |
R44H |
possibly damaging |
Het |
| Snx13 |
G |
A |
12: 35,174,471 (GRCm39) |
A667T |
possibly damaging |
Het |
| Sowaha |
T |
G |
11: 53,369,590 (GRCm39) |
H382P |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tmem259 |
G |
T |
10: 79,814,442 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
A |
G |
9: 103,211,277 (GRCm39) |
T945A |
probably damaging |
Het |
| Tor1aip2 |
T |
C |
1: 155,939,307 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,527,136 (GRCm39) |
V118A |
probably damaging |
Het |
| Usp38 |
T |
C |
8: 81,711,717 (GRCm39) |
K773E |
probably damaging |
Het |
| Wnk1 |
G |
A |
6: 119,925,852 (GRCm39) |
|
probably benign |
Het |
| Zfp871 |
A |
G |
17: 32,994,842 (GRCm39) |
V111A |
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 |
|
|
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 |
|
|
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'- TGATTTTCTAACAAATCACACCCA -3'
(R):5'- CATCCTCTGCTGGCAGTTT -3'
Sequencing Primer
(F):5'- AAAAGTCCACCTGATTACTCTAGGG -3'
(R):5'- GTGCTATCGATCAAACTCAAGTGGC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation