Incidental Mutation 'IGL02448:Gcc2'
| ID |
293612 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gcc2
|
| Ensembl Gene |
ENSMUSG00000038039 |
| Gene Name |
GRIP and coiled-coil domain containing 2 |
| Synonyms |
0610043A03Rik, 2210420P05Rik, 2600014C01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
IGL02448
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
58091319-58141421 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 58128393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 1304
(C1304*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057659]
[ENSMUST00000162041]
[ENSMUST00000162860]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057659
AA Change: C1404*
|
| SMART Domains |
Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: C1404*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
coiled coil region
|
33 |
282 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
353 |
378 |
3.94e-5 |
PROSPERO |
|
internal_repeat_2
|
382 |
406 |
3.94e-5 |
PROSPERO |
|
coiled coil region
|
790 |
882 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
964 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1093 |
1111 |
1.93e-5 |
PROSPERO |
|
low complexity region
|
1115 |
1132 |
N/A |
INTRINSIC |
|
low complexity region
|
1179 |
1190 |
N/A |
INTRINSIC |
|
coiled coil region
|
1441 |
1470 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1554 |
1572 |
1.93e-5 |
PROSPERO |
|
Grip
|
1608 |
1655 |
4.37e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160636
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162041
AA Change: C1368*
|
| SMART Domains |
Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: C1368*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
32 |
246 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
317 |
342 |
3.28e-5 |
PROSPERO |
|
internal_repeat_2
|
346 |
370 |
3.28e-5 |
PROSPERO |
|
coiled coil region
|
754 |
846 |
N/A |
INTRINSIC |
|
low complexity region
|
903 |
928 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1057 |
1075 |
1.6e-5 |
PROSPERO |
|
low complexity region
|
1079 |
1096 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1154 |
N/A |
INTRINSIC |
|
coiled coil region
|
1405 |
1434 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1518 |
1536 |
1.6e-5 |
PROSPERO |
|
Grip
|
1572 |
1619 |
4.37e-19 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162860
AA Change: C1304*
|
| SMART Domains |
Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
AA Change: C1304*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
46 |
182 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
253 |
278 |
4.17e-5 |
PROSPERO |
|
internal_repeat_2
|
282 |
306 |
4.17e-5 |
PROSPERO |
|
coiled coil region
|
690 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
839 |
864 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
993 |
1011 |
2.06e-5 |
PROSPERO |
|
low complexity region
|
1015 |
1032 |
N/A |
INTRINSIC |
|
low complexity region
|
1079 |
1090 |
N/A |
INTRINSIC |
|
coiled coil region
|
1341 |
1370 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1450 |
1468 |
2.06e-5 |
PROSPERO |
|
Grip
|
1504 |
1551 |
4.37e-19 |
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 protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl6 |
T |
A |
9: 20,786,866 (GRCm39) |
I286F |
probably damaging |
Het |
| Arhgap5 |
A |
G |
12: 52,609,123 (GRCm39) |
E1366G |
probably damaging |
Het |
| Blzf1 |
T |
A |
1: 164,123,350 (GRCm39) |
I326F |
possibly damaging |
Het |
| Cc2d2a |
A |
C |
5: 43,840,547 (GRCm39) |
|
probably benign |
Het |
| Cdc37 |
T |
C |
9: 21,051,147 (GRCm39) |
E366G |
possibly damaging |
Het |
| Cdh17 |
T |
C |
4: 11,784,680 (GRCm39) |
S279P |
probably benign |
Het |
| Cdh18 |
T |
C |
15: 23,173,875 (GRCm39) |
S30P |
probably benign |
Het |
| Cep192 |
A |
G |
18: 68,002,518 (GRCm39) |
T2238A |
probably benign |
Het |
| Cpped1 |
C |
T |
16: 11,623,253 (GRCm39) |
E289K |
probably benign |
Het |
| Ctsq |
A |
T |
13: 61,184,044 (GRCm39) |
Y293N |
probably damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,369,493 (GRCm39) |
N20S |
possibly damaging |
Het |
| Hsd3b5 |
C |
T |
3: 98,529,447 (GRCm39) |
G61E |
probably damaging |
Het |
| Igfals |
A |
T |
17: 25,099,161 (GRCm39) |
N84I |
probably damaging |
Het |
| Irs2 |
A |
T |
8: 11,057,862 (GRCm39) |
V190D |
probably benign |
Het |
| Kank1 |
T |
A |
19: 25,388,739 (GRCm39) |
L804Q |
probably damaging |
Het |
| Kcnj2 |
G |
T |
11: 110,963,108 (GRCm39) |
V167L |
probably benign |
Het |
| Kif20a |
T |
C |
18: 34,761,507 (GRCm39) |
V300A |
possibly damaging |
Het |
| Kmt2d |
T |
C |
15: 98,741,991 (GRCm39) |
|
probably benign |
Het |
| Moxd1 |
T |
C |
10: 24,158,617 (GRCm39) |
F424L |
probably damaging |
Het |
| Mpeg1 |
A |
C |
19: 12,439,973 (GRCm39) |
D477A |
probably benign |
Het |
| Mtmr10 |
A |
T |
7: 63,957,898 (GRCm39) |
Y166F |
probably damaging |
Het |
| Muc5b |
T |
G |
7: 141,422,226 (GRCm39) |
I4454S |
possibly damaging |
Het |
| Ntng1 |
G |
A |
3: 109,841,875 (GRCm39) |
|
probably benign |
Het |
| Or52r1b |
T |
C |
7: 102,691,604 (GRCm39) |
I306T |
possibly damaging |
Het |
| Or7e175 |
T |
A |
9: 20,048,937 (GRCm39) |
L175* |
probably null |
Het |
| Pex11a |
A |
T |
7: 79,387,208 (GRCm39) |
|
probably null |
Het |
| Plcg2 |
A |
G |
8: 118,333,960 (GRCm39) |
D911G |
probably benign |
Het |
| Rc3h2 |
T |
C |
2: 37,279,817 (GRCm39) |
T471A |
probably benign |
Het |
| Rif1 |
T |
A |
2: 52,006,708 (GRCm39) |
L2214Q |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,977,830 (GRCm39) |
S120T |
probably benign |
Het |
| Ryr1 |
A |
G |
7: 28,804,491 (GRCm39) |
|
probably benign |
Het |
| Sh3yl1 |
G |
T |
12: 30,989,666 (GRCm39) |
A129S |
probably damaging |
Het |
| Slc25a10 |
A |
G |
11: 120,387,879 (GRCm39) |
T191A |
probably benign |
Het |
| Slc8b1 |
T |
C |
5: 120,663,856 (GRCm39) |
S359P |
probably damaging |
Het |
| Srf |
T |
C |
17: 46,866,349 (GRCm39) |
T136A |
possibly damaging |
Het |
| Stx1a |
G |
T |
5: 135,052,473 (GRCm39) |
|
probably benign |
Het |
| Taf1d |
T |
A |
9: 15,221,690 (GRCm39) |
C224* |
probably null |
Het |
| Tnik |
A |
G |
3: 28,675,226 (GRCm39) |
S700G |
probably null |
Het |
| Ttn |
T |
C |
2: 76,773,331 (GRCm39) |
H2357R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,566,458 (GRCm39) |
E28145G |
probably damaging |
Het |
| Ush1c |
C |
A |
7: 45,858,561 (GRCm39) |
V576F |
possibly damaging |
Het |
| Xpc |
T |
C |
6: 91,492,726 (GRCm39) |
E19G |
probably benign |
Het |
| Zdhhc25 |
G |
A |
15: 88,485,045 (GRCm39) |
V127M |
probably damaging |
Het |
|
| Other mutations in Gcc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Gcc2
|
APN |
10 |
58,128,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00850:Gcc2
|
APN |
10 |
58,094,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00935:Gcc2
|
APN |
10 |
58,114,601 (GRCm39) |
splice site |
probably benign |
|
|
IGL01551:Gcc2
|
APN |
10 |
58,134,691 (GRCm39) |
splice site |
probably benign |
|
|
IGL01642:Gcc2
|
APN |
10 |
58,116,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02041:Gcc2
|
APN |
10 |
58,105,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02215:Gcc2
|
APN |
10 |
58,107,458 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02698:Gcc2
|
APN |
10 |
58,107,112 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02888:Gcc2
|
APN |
10 |
58,130,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02936:Gcc2
|
APN |
10 |
58,131,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03223:Gcc2
|
APN |
10 |
58,134,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03249:Gcc2
|
APN |
10 |
58,106,814 (GRCm39) |
nonsense |
probably null |
|
|
R0179:Gcc2
|
UTSW |
10 |
58,112,472 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0528:Gcc2
|
UTSW |
10 |
58,134,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1569:Gcc2
|
UTSW |
10 |
58,105,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1606:Gcc2
|
UTSW |
10 |
58,105,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1725:Gcc2
|
UTSW |
10 |
58,139,937 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1916:Gcc2
|
UTSW |
10 |
58,112,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:Gcc2
|
UTSW |
10 |
58,121,965 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2058:Gcc2
|
UTSW |
10 |
58,121,779 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2114:Gcc2
|
UTSW |
10 |
58,105,362 (GRCm39) |
nonsense |
probably null |
|
|
R2280:Gcc2
|
UTSW |
10 |
58,105,502 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2435:Gcc2
|
UTSW |
10 |
58,130,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2876:Gcc2
|
UTSW |
10 |
58,126,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4753:Gcc2
|
UTSW |
10 |
58,126,204 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4827:Gcc2
|
UTSW |
10 |
58,121,953 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4911:Gcc2
|
UTSW |
10 |
58,106,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5033:Gcc2
|
UTSW |
10 |
58,114,628 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5224:Gcc2
|
UTSW |
10 |
58,121,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5271:Gcc2
|
UTSW |
10 |
58,105,517 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5398:Gcc2
|
UTSW |
10 |
58,105,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5411:Gcc2
|
UTSW |
10 |
58,106,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5594:Gcc2
|
UTSW |
10 |
58,123,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5825:Gcc2
|
UTSW |
10 |
58,130,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5974:Gcc2
|
UTSW |
10 |
58,094,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5987:Gcc2
|
UTSW |
10 |
58,091,669 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6195:Gcc2
|
UTSW |
10 |
58,106,806 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6198:Gcc2
|
UTSW |
10 |
58,128,412 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6233:Gcc2
|
UTSW |
10 |
58,106,806 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6331:Gcc2
|
UTSW |
10 |
58,107,287 (GRCm39) |
missense |
probably benign |
|
|
R6349:Gcc2
|
UTSW |
10 |
58,105,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6593:Gcc2
|
UTSW |
10 |
58,107,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6632:Gcc2
|
UTSW |
10 |
58,105,871 (GRCm39) |
splice site |
probably null |
|
|
R6647:Gcc2
|
UTSW |
10 |
58,123,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6774:Gcc2
|
UTSW |
10 |
58,117,261 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6808:Gcc2
|
UTSW |
10 |
58,094,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7072:Gcc2
|
UTSW |
10 |
58,106,749 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7220:Gcc2
|
UTSW |
10 |
58,116,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7352:Gcc2
|
UTSW |
10 |
58,116,520 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7384:Gcc2
|
UTSW |
10 |
58,105,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7439:Gcc2
|
UTSW |
10 |
58,092,723 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7441:Gcc2
|
UTSW |
10 |
58,092,723 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7543:Gcc2
|
UTSW |
10 |
58,107,086 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7843:Gcc2
|
UTSW |
10 |
58,103,843 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7850:Gcc2
|
UTSW |
10 |
58,114,703 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7980:Gcc2
|
UTSW |
10 |
58,114,574 (GRCm39) |
splice site |
probably null |
|
|
R8336:Gcc2
|
UTSW |
10 |
58,108,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8785:Gcc2
|
UTSW |
10 |
58,107,086 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8834:Gcc2
|
UTSW |
10 |
58,121,867 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9006:Gcc2
|
UTSW |
10 |
58,103,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Gcc2
|
UTSW |
10 |
58,106,411 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9240:Gcc2
|
UTSW |
10 |
58,106,398 (GRCm39) |
nonsense |
probably null |
|
|
R9287:Gcc2
|
UTSW |
10 |
58,105,217 (GRCm39) |
nonsense |
probably null |
|
|
R9370:Gcc2
|
UTSW |
10 |
58,131,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9433:Gcc2
|
UTSW |
10 |
58,106,592 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9653:Gcc2
|
UTSW |
10 |
58,110,822 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0018:Gcc2
|
UTSW |
10 |
58,114,636 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation