Incidental Mutation 'IGL02324:Gpatch2'
| ID |
288404 |
| 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 # |
IGL02324
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
186947705-187083901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 186957936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 97
(E97G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044812]
[ENSMUST00000065573]
[ENSMUST00000110943]
[ENSMUST00000159748]
[ENSMUST00000160471]
[ENSMUST00000160481]
[ENSMUST00000160570]
|
| AlphaFold |
Q7TQC7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044812
AA Change: E97G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048979
Gene: ENSMUSG00000039210
AA Change: E97G
| 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 damaging
Transcript: ENSMUST00000065573
AA Change: E97G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065009
Gene: ENSMUSG00000039210
AA Change: E97G
| 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 damaging
Transcript: ENSMUST00000110943
AA Change: E97G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106568
Gene: ENSMUSG00000039210
AA Change: E97G
| 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 damaging
Transcript: ENSMUST00000159748
AA Change: E97G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000137858
Gene: ENSMUSG00000039210
AA Change: E97G
| 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 damaging
Transcript: ENSMUST00000160471
AA Change: E74G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124407
Gene: ENSMUSG00000039210
AA Change: E74G
| 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 damaging
Transcript: ENSMUST00000160481
AA Change: E97G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137801
Gene: ENSMUSG00000039210
AA Change: E97G
| 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 benign
Transcript: ENSMUST00000160570
|
| SMART Domains |
Protein: ENSMUSP00000125750
Gene: ENSMUSG00000039210
| Domain | Start | End | E-Value | Type |
|---|
|
G_patch
|
133 |
179 |
3.95e-16 |
SMART |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
A |
3: 151,203,511 (GRCm39) |
C124S |
probably damaging |
Het |
| Aldh1a7 |
T |
C |
19: 20,704,368 (GRCm39) |
N42S |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,623,240 (GRCm39) |
L667P |
probably damaging |
Het |
| C1qb |
C |
A |
4: 136,607,811 (GRCm39) |
R184L |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 136,002,914 (GRCm39) |
|
probably benign |
Het |
| Cdk20 |
A |
G |
13: 64,585,734 (GRCm39) |
E244G |
probably benign |
Het |
| Copg2 |
C |
A |
6: 30,840,469 (GRCm39) |
|
probably null |
Het |
| Cyp2d40 |
A |
T |
15: 82,645,149 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
A |
G |
4: 96,414,170 (GRCm39) |
I365T |
probably damaging |
Het |
| Dhx29 |
A |
G |
13: 113,064,342 (GRCm39) |
K6E |
probably damaging |
Het |
| Dpp10 |
T |
A |
1: 123,295,531 (GRCm39) |
T539S |
probably benign |
Het |
| Ehbp1 |
A |
T |
11: 22,046,048 (GRCm39) |
I542K |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,493,593 (GRCm39) |
Y3913C |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,536,822 (GRCm39) |
T1264I |
probably benign |
Het |
| Fmnl1 |
A |
G |
11: 103,070,364 (GRCm39) |
D51G |
probably damaging |
Het |
| Gm17093 |
A |
G |
14: 44,755,807 (GRCm39) |
T25A |
unknown |
Het |
| Hcn1 |
T |
C |
13: 118,039,422 (GRCm39) |
L446P |
unknown |
Het |
| Hpse2 |
A |
T |
19: 42,920,038 (GRCm39) |
L354I |
probably damaging |
Het |
| Hspa4 |
A |
G |
11: 53,190,885 (GRCm39) |
|
probably null |
Het |
| Krtap16-1 |
C |
T |
11: 99,877,129 (GRCm39) |
V92M |
probably damaging |
Het |
| Med23 |
A |
T |
10: 24,773,239 (GRCm39) |
Q281L |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,039,873 (GRCm39) |
S963P |
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,479,643 (GRCm39) |
S1217P |
probably damaging |
Het |
| Myocd |
C |
A |
11: 65,069,484 (GRCm39) |
L785F |
probably benign |
Het |
| Nell2 |
T |
C |
15: 95,126,982 (GRCm39) |
T798A |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,092,808 (GRCm39) |
|
probably benign |
Het |
| Olfm5 |
T |
C |
7: 103,803,302 (GRCm39) |
|
probably null |
Het |
| Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
| P2ry1 |
A |
T |
3: 60,911,199 (GRCm39) |
N113Y |
possibly damaging |
Het |
| Pan3 |
A |
G |
5: 147,466,933 (GRCm39) |
|
probably null |
Het |
| Pappa |
A |
G |
4: 65,115,045 (GRCm39) |
R714G |
probably damaging |
Het |
| Plcd1 |
A |
G |
9: 118,901,710 (GRCm39) |
F579L |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,155,238 (GRCm39) |
V664A |
probably benign |
Het |
| Slc27a5 |
T |
A |
7: 12,731,487 (GRCm39) |
Q168L |
probably benign |
Het |
| Spag8 |
T |
C |
4: 43,651,781 (GRCm39) |
E395G |
probably damaging |
Het |
| Stfa2l1 |
T |
C |
16: 35,982,138 (GRCm39) |
Y70H |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 54,891,772 (GRCm39) |
N1017S |
probably benign |
Het |
| Tnfrsf25 |
C |
A |
4: 152,203,779 (GRCm39) |
Q296K |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,676,143 (GRCm39) |
I103N |
probably benign |
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 |
|
IGL02493:Gpatch2
|
APN |
1 |
186,965,325 (GRCm39) |
splice site |
probably benign |
|
|
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