Incidental Mutation 'IGL02583:Gpatch2'
ID |
299453 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpatch2
|
Ensembl Gene |
ENSMUSG00000039210 |
Gene Name |
G patch domain containing 2 |
Synonyms |
5830433G22Rik, 5830436K05Rik, Gpatc2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
IGL02583
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
186947705-187083901 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to T
at 186965515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044812]
[ENSMUST00000065573]
[ENSMUST00000110943]
[ENSMUST00000159748]
[ENSMUST00000160471]
[ENSMUST00000160481]
[ENSMUST00000160570]
|
AlphaFold |
Q7TQC7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000044812
|
SMART Domains |
Protein: ENSMUSP00000048979 Gene: ENSMUSG00000039210
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
low complexity region
|
250 |
265 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000065573
|
SMART Domains |
Protein: ENSMUSP00000065009 Gene: ENSMUSG00000039210
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
low complexity region
|
250 |
265 |
N/A |
INTRINSIC |
G_patch
|
464 |
510 |
3.95e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097443
|
SMART Domains |
Protein: ENSMUSP00000095052 Gene: ENSMUSG00000039210
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
low complexity region
|
250 |
265 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110943
|
SMART Domains |
Protein: ENSMUSP00000106568 Gene: ENSMUSG00000039210
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
low complexity region
|
250 |
265 |
N/A |
INTRINSIC |
G_patch
|
427 |
473 |
3.95e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159748
|
SMART Domains |
Protein: ENSMUSP00000137858 Gene: ENSMUSG00000039210
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
low complexity region
|
250 |
265 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000160471
|
SMART Domains |
Protein: ENSMUSP00000124407 Gene: ENSMUSG00000039210
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
low complexity region
|
84 |
95 |
N/A |
INTRINSIC |
low complexity region
|
132 |
142 |
N/A |
INTRINSIC |
low complexity region
|
182 |
191 |
N/A |
INTRINSIC |
low complexity region
|
227 |
242 |
N/A |
INTRINSIC |
G_patch
|
441 |
487 |
3.95e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160481
|
SMART Domains |
Protein: ENSMUSP00000137801 Gene: ENSMUSG00000039210
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
low complexity region
|
250 |
265 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161260
|
Predicted Effect |
probably null
Transcript: ENSMUST00000160570
|
SMART Domains |
Protein: ENSMUSP00000125750 Gene: ENSMUSG00000039210
Domain | Start | End | E-Value | Type |
G_patch
|
133 |
179 |
3.95e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193542
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a nuclear factor that may play a role in spermatogenesis and in tumor growth during breast cancer. The encoded protein contains a G-patch domain with an RNA binding motif. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930584F24Rik |
C |
T |
5: 26,684,717 (GRCm39) |
|
noncoding transcript |
Het |
A430005L14Rik |
T |
A |
4: 154,045,392 (GRCm39) |
D140E |
possibly damaging |
Het |
Bod1l |
C |
T |
5: 41,973,550 (GRCm39) |
|
probably null |
Het |
Brms1 |
T |
A |
19: 5,096,206 (GRCm39) |
V61D |
probably damaging |
Het |
Card11 |
A |
T |
5: 140,863,881 (GRCm39) |
N952K |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cimap2 |
A |
T |
4: 106,468,602 (GRCm39) |
|
probably benign |
Het |
Col15a1 |
T |
C |
4: 47,279,866 (GRCm39) |
V697A |
probably benign |
Het |
Col7a1 |
A |
T |
9: 108,791,297 (GRCm39) |
I1118F |
unknown |
Het |
Cyfip2 |
T |
C |
11: 46,140,585 (GRCm39) |
E746G |
possibly damaging |
Het |
Dach1 |
A |
G |
14: 98,065,830 (GRCm39) |
|
probably benign |
Het |
Dock11 |
G |
T |
X: 35,270,370 (GRCm39) |
G1023W |
possibly damaging |
Het |
Fbxo10 |
T |
C |
4: 45,044,754 (GRCm39) |
D453G |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,738,955 (GRCm39) |
|
probably benign |
Het |
Gm17415 |
A |
G |
1: 93,349,801 (GRCm39) |
|
probably benign |
Het |
Gm4781 |
A |
T |
10: 100,232,507 (GRCm39) |
|
noncoding transcript |
Het |
Greb1 |
A |
G |
12: 16,756,296 (GRCm39) |
|
probably benign |
Het |
Greb1l |
A |
G |
18: 10,542,362 (GRCm39) |
Y1319C |
probably damaging |
Het |
Ice1 |
C |
T |
13: 70,753,854 (GRCm39) |
R744H |
possibly damaging |
Het |
Kcnq2 |
T |
A |
2: 180,723,295 (GRCm39) |
S694C |
probably benign |
Het |
Krt35 |
C |
A |
11: 99,983,360 (GRCm39) |
V448L |
possibly damaging |
Het |
Lmo7 |
A |
G |
14: 102,171,360 (GRCm39) |
|
probably benign |
Het |
Megf8 |
T |
C |
7: 25,055,218 (GRCm39) |
S1984P |
probably benign |
Het |
Nlrp1a |
T |
C |
11: 71,014,227 (GRCm39) |
Q341R |
probably benign |
Het |
Or1p1 |
T |
A |
11: 74,180,330 (GRCm39) |
L286Q |
probably damaging |
Het |
Or51a6 |
T |
C |
7: 102,603,918 (GRCm39) |
T297A |
possibly damaging |
Het |
Osr1 |
C |
T |
12: 9,629,675 (GRCm39) |
H183Y |
probably damaging |
Het |
Paf1 |
T |
C |
7: 28,095,596 (GRCm39) |
V202A |
probably damaging |
Het |
Pde10a |
A |
G |
17: 9,200,462 (GRCm39) |
K1071E |
probably benign |
Het |
Pwp2 |
T |
C |
10: 78,016,917 (GRCm39) |
R268G |
probably benign |
Het |
Rwdd1 |
T |
A |
10: 33,877,669 (GRCm39) |
K178* |
probably null |
Het |
Scn10a |
A |
T |
9: 119,520,506 (GRCm39) |
|
probably benign |
Het |
Sema3g |
A |
G |
14: 30,943,476 (GRCm39) |
|
probably null |
Het |
Slc22a6 |
C |
A |
19: 8,600,980 (GRCm39) |
A391E |
possibly damaging |
Het |
Slc41a3 |
G |
A |
6: 90,621,153 (GRCm39) |
G372S |
probably damaging |
Het |
Sqor |
G |
T |
2: 122,641,690 (GRCm39) |
K3N |
probably damaging |
Het |
Srl |
T |
C |
16: 4,310,244 (GRCm39) |
Q495R |
possibly damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stxbp3 |
G |
T |
3: 108,708,187 (GRCm39) |
D371E |
probably damaging |
Het |
Tnfrsf19 |
C |
A |
14: 61,261,659 (GRCm39) |
V47F |
probably damaging |
Het |
Usp11 |
A |
T |
X: 20,584,284 (GRCm39) |
E622V |
probably benign |
Het |
Vmn1r52 |
T |
A |
6: 90,156,126 (GRCm39) |
Y143* |
probably null |
Het |
Zfp280d |
A |
G |
9: 72,229,727 (GRCm39) |
|
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zmat1 |
T |
C |
X: 133,874,021 (GRCm39) |
T457A |
probably damaging |
Het |
|
Other mutations in Gpatch2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01588:Gpatch2
|
APN |
1 |
186,962,991 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02324:Gpatch2
|
APN |
1 |
186,957,936 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02493:Gpatch2
|
APN |
1 |
186,965,325 (GRCm39) |
splice site |
probably benign |
|
IGL02583:Gpatch2
|
APN |
1 |
186,965,514 (GRCm39) |
splice site |
probably null |
|
IGL02632:Gpatch2
|
APN |
1 |
186,958,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R0100:Gpatch2
|
UTSW |
1 |
186,958,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R1801:Gpatch2
|
UTSW |
1 |
186,958,028 (GRCm39) |
missense |
probably benign |
0.03 |
R1966:Gpatch2
|
UTSW |
1 |
187,054,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R3870:Gpatch2
|
UTSW |
1 |
187,054,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R4028:Gpatch2
|
UTSW |
1 |
186,958,337 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4471:Gpatch2
|
UTSW |
1 |
186,965,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R5346:Gpatch2
|
UTSW |
1 |
186,958,065 (GRCm39) |
missense |
probably benign |
0.00 |
R6338:Gpatch2
|
UTSW |
1 |
186,957,711 (GRCm39) |
missense |
probably damaging |
0.99 |
R6936:Gpatch2
|
UTSW |
1 |
186,965,433 (GRCm39) |
missense |
probably benign |
0.04 |
R7185:Gpatch2
|
UTSW |
1 |
186,958,394 (GRCm39) |
missense |
probably damaging |
1.00 |
R7708:Gpatch2
|
UTSW |
1 |
186,964,963 (GRCm39) |
missense |
probably benign |
|
R7885:Gpatch2
|
UTSW |
1 |
186,957,698 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8508:Gpatch2
|
UTSW |
1 |
187,036,552 (GRCm39) |
missense |
probably benign |
0.04 |
R9236:Gpatch2
|
UTSW |
1 |
186,965,977 (GRCm39) |
missense |
probably benign |
0.06 |
R9274:Gpatch2
|
UTSW |
1 |
186,963,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R9647:Gpatch2
|
UTSW |
1 |
187,054,542 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Gpatch2
|
UTSW |
1 |
186,957,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |