Incidental Mutation 'IGL02493:Gpatch2'
| ID |
295755 |
| 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 # |
IGL02493
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
186947705-187083901 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 186965325 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 benign
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 benign
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 benign
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 benign
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 |
probably benign
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: ENSMUST00000161260
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
G |
15: 59,888,312 (GRCm39) |
S43R |
probably benign |
Het |
| Afap1l1 |
G |
T |
18: 61,870,594 (GRCm39) |
Q595K |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,483,402 (GRCm39) |
E202G |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,540,528 (GRCm39) |
V150A |
probably damaging |
Het |
| Bcas3 |
T |
C |
11: 85,386,708 (GRCm39) |
I381T |
probably damaging |
Het |
| Best3 |
A |
T |
10: 116,860,506 (GRCm39) |
R589W |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,959,054 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
A |
C |
7: 7,287,243 (GRCm39) |
D728E |
probably damaging |
Het |
| Commd2 |
C |
A |
3: 57,559,080 (GRCm39) |
|
probably benign |
Het |
| Csrp1 |
T |
A |
1: 135,678,801 (GRCm39) |
F175L |
probably damaging |
Het |
| Eif3c |
A |
T |
7: 126,158,073 (GRCm39) |
N294K |
probably damaging |
Het |
| Fam184a |
A |
G |
10: 53,570,789 (GRCm39) |
|
probably null |
Het |
| Fndc1 |
G |
T |
17: 7,994,377 (GRCm39) |
P297Q |
unknown |
Het |
| Galnt13 |
A |
G |
2: 54,770,149 (GRCm39) |
I314V |
probably benign |
Het |
| Gimap6 |
T |
A |
6: 48,679,603 (GRCm39) |
K144N |
probably damaging |
Het |
| Gm10188 |
A |
T |
1: 132,157,143 (GRCm39) |
C74* |
probably null |
Het |
| Hace1 |
T |
A |
10: 45,464,515 (GRCm39) |
M39K |
probably damaging |
Het |
| Has2 |
G |
T |
15: 56,531,320 (GRCm39) |
T465K |
probably damaging |
Het |
| Homer3 |
T |
A |
8: 70,742,721 (GRCm39) |
V144D |
probably benign |
Het |
| Ift140 |
A |
T |
17: 25,306,898 (GRCm39) |
K878* |
probably null |
Het |
| Ikbip |
A |
G |
10: 90,932,456 (GRCm39) |
N367D |
probably damaging |
Het |
| Immt |
T |
C |
6: 71,821,700 (GRCm39) |
|
probably benign |
Het |
| Isca1 |
A |
G |
13: 59,910,596 (GRCm39) |
V32A |
possibly damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,427,548 (GRCm39) |
N288K |
possibly damaging |
Het |
| Kmt2b |
C |
T |
7: 30,268,936 (GRCm39) |
|
probably benign |
Het |
| Lrguk |
T |
A |
6: 34,106,127 (GRCm39) |
D717E |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,417,647 (GRCm39) |
G1037E |
probably damaging |
Het |
| Man2a2 |
T |
A |
7: 80,019,363 (GRCm39) |
Q37L |
possibly damaging |
Het |
| Msh4 |
C |
T |
3: 153,583,545 (GRCm39) |
|
probably null |
Het |
| Mtf1 |
C |
T |
4: 124,715,112 (GRCm39) |
R246W |
probably damaging |
Het |
| Mvb12b |
A |
G |
2: 33,730,221 (GRCm39) |
S57P |
probably benign |
Het |
| Nat8f5 |
A |
G |
6: 85,794,544 (GRCm39) |
F139L |
probably benign |
Het |
| Npepps |
A |
G |
11: 97,128,985 (GRCm39) |
F400L |
probably damaging |
Het |
| Ntsr2 |
T |
A |
12: 16,708,390 (GRCm39) |
S248T |
possibly damaging |
Het |
| Oplah |
G |
A |
15: 76,185,155 (GRCm39) |
R853* |
probably null |
Het |
| Or5b98 |
T |
C |
19: 12,931,138 (GRCm39) |
F62L |
probably benign |
Het |
| Or5p57 |
A |
T |
7: 107,665,012 (GRCm39) |
M331K |
possibly damaging |
Het |
| Plekhh2 |
G |
A |
17: 84,914,391 (GRCm39) |
|
probably null |
Het |
| Pskh1 |
G |
A |
8: 106,656,388 (GRCm39) |
V355I |
probably benign |
Het |
| Rab31 |
A |
T |
17: 66,024,547 (GRCm39) |
M44K |
possibly damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,910,849 (GRCm39) |
V329A |
probably damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,600,908 (GRCm39) |
Y76H |
probably damaging |
Het |
| Trappc14 |
T |
C |
5: 138,261,432 (GRCm39) |
|
probably null |
Het |
| Treh |
A |
T |
9: 44,594,246 (GRCm39) |
D164V |
possibly damaging |
Het |
| Trim6 |
A |
G |
7: 103,881,847 (GRCm39) |
Y366C |
probably benign |
Het |
| Ubr7 |
T |
C |
12: 102,734,479 (GRCm39) |
V251A |
probably benign |
Het |
| Vmn1r35 |
T |
A |
6: 66,656,463 (GRCm39) |
N69I |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,433,968 (GRCm39) |
L2255P |
unknown |
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 |
|
IGL02583:Gpatch2
|
APN |
1 |
186,965,515 (GRCm39) |
splice site |
probably null |
|
|
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 |
Incidental Mutation