Incidental Mutation 'IGL01588:Gpatch2'
| ID |
91512 |
| 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 # |
IGL01588
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
186947705-187083901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 186962991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 261
(S261C)
|
| 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: S261C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048979
Gene: ENSMUSG00000039210
AA Change: S261C
| 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: S261C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065009
Gene: ENSMUSG00000039210
AA Change: S261C
| 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: S261C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106568
Gene: ENSMUSG00000039210
AA Change: S261C
| 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: S261C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137858
Gene: ENSMUSG00000039210
AA Change: S261C
| 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: S238C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124407
Gene: ENSMUSG00000039210
AA Change: S238C
| 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: S261C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137801
Gene: ENSMUSG00000039210
AA Change: S261C
| 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
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aspm |
T |
A |
1: 139,405,900 (GRCm39) |
S1596T |
probably benign |
Het |
| Atp10b |
G |
A |
11: 43,063,548 (GRCm39) |
R161H |
probably benign |
Het |
| Csn2 |
T |
C |
5: 87,842,508 (GRCm39) |
H165R |
probably benign |
Het |
| Dido1 |
A |
G |
2: 180,330,668 (GRCm39) |
V260A |
probably benign |
Het |
| Ece1 |
C |
T |
4: 137,684,517 (GRCm39) |
|
probably benign |
Het |
| Garem1 |
T |
G |
18: 21,262,854 (GRCm39) |
R653S |
probably damaging |
Het |
| Ing4 |
A |
G |
6: 125,020,949 (GRCm39) |
N24D |
possibly damaging |
Het |
| Klhdc7a |
A |
T |
4: 139,694,257 (GRCm39) |
V230D |
probably damaging |
Het |
| Ly96 |
G |
A |
1: 16,779,678 (GRCm39) |
V116I |
probably benign |
Het |
| Myom1 |
C |
T |
17: 71,424,432 (GRCm39) |
T1427M |
possibly damaging |
Het |
| Nedd1 |
C |
A |
10: 92,522,124 (GRCm39) |
V638L |
probably benign |
Het |
| Or52d3 |
C |
T |
7: 104,229,150 (GRCm39) |
S99F |
probably damaging |
Het |
| Or5d35 |
T |
C |
2: 87,855,417 (GRCm39) |
V117A |
probably benign |
Het |
| Or8g30 |
G |
A |
9: 39,230,128 (GRCm39) |
Q261* |
probably null |
Het |
| Pbx2 |
T |
C |
17: 34,814,592 (GRCm39) |
|
probably benign |
Het |
| Phlpp1 |
A |
T |
1: 106,308,119 (GRCm39) |
H1132L |
probably damaging |
Het |
| Plpp5 |
T |
A |
8: 26,214,195 (GRCm39) |
H237Q |
probably damaging |
Het |
| Stard13 |
C |
T |
5: 150,968,702 (GRCm39) |
R856H |
probably damaging |
Het |
| Sult1e1 |
T |
C |
5: 87,724,102 (GRCm39) |
K285R |
probably benign |
Het |
| Ubxn8 |
C |
T |
8: 34,111,587 (GRCm39) |
V269M |
probably damaging |
Het |
| Usp29 |
A |
T |
7: 6,965,610 (GRCm39) |
K484N |
probably benign |
Het |
| Whrn |
C |
T |
4: 63,391,015 (GRCm39) |
V80M |
probably damaging |
Het |
| Znhit6 |
A |
G |
3: 145,301,962 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gpatch2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
186,965,515 (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 |
2013-12-09 |
Incidental Mutation