Incidental Mutation 'R5993:Gcc1'
ID |
482118 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gcc1
|
Ensembl Gene |
ENSMUSG00000029708 |
Gene Name |
golgi coiled coil 1 |
Synonyms |
4932417P04Rik |
MMRRC Submission |
044172-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R5993 (G1)
|
Quality Score |
108.008 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
28416602-28421723 bp(-) (GRCm39) |
Type of Mutation |
splice site (21 bp from exon) |
DNA Base Change (assembly) |
G to A
at 28424851 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020717]
[ENSMUST00000031719]
[ENSMUST00000064377]
[ENSMUST00000090511]
[ENSMUST00000169841]
[ENSMUST00000170767]
|
AlphaFold |
Q9D4H2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020717
|
SMART Domains |
Protein: ENSMUSP00000020717 Gene: ENSMUSG00000020440
Domain | Start | End | E-Value | Type |
ARF
|
1 |
180 |
5.83e-121 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000031719
|
SMART Domains |
Protein: ENSMUSP00000031719 Gene: ENSMUSG00000029707
Domain | Start | End | E-Value | Type |
Pfam:Fascin
|
24 |
138 |
1e-29 |
PFAM |
SCOP:d1dfca2
|
146 |
260 |
2e-48 |
SMART |
Pfam:Fascin
|
271 |
381 |
2.1e-26 |
PFAM |
SCOP:d1dfca4
|
386 |
498 |
3e-53 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000064377
|
SMART Domains |
Protein: ENSMUSP00000067395 Gene: ENSMUSG00000029708
Domain | Start | End | E-Value | Type |
coiled coil region
|
13 |
61 |
N/A |
INTRINSIC |
low complexity region
|
93 |
109 |
N/A |
INTRINSIC |
low complexity region
|
130 |
153 |
N/A |
INTRINSIC |
coiled coil region
|
156 |
315 |
N/A |
INTRINSIC |
low complexity region
|
408 |
418 |
N/A |
INTRINSIC |
low complexity region
|
432 |
443 |
N/A |
INTRINSIC |
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
Blast:H2B
|
492 |
590 |
3e-8 |
BLAST |
low complexity region
|
613 |
631 |
N/A |
INTRINSIC |
coiled coil region
|
659 |
701 |
N/A |
INTRINSIC |
Grip
|
719 |
766 |
8.28e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090511
|
SMART Domains |
Protein: ENSMUSP00000087997 Gene: ENSMUSG00000029708
Domain | Start | End | E-Value | Type |
coiled coil region
|
13 |
61 |
N/A |
INTRINSIC |
low complexity region
|
93 |
109 |
N/A |
INTRINSIC |
low complexity region
|
130 |
153 |
N/A |
INTRINSIC |
coiled coil region
|
156 |
315 |
N/A |
INTRINSIC |
low complexity region
|
408 |
418 |
N/A |
INTRINSIC |
low complexity region
|
432 |
443 |
N/A |
INTRINSIC |
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
Blast:H2B
|
492 |
590 |
3e-8 |
BLAST |
low complexity region
|
613 |
631 |
N/A |
INTRINSIC |
coiled coil region
|
659 |
701 |
N/A |
INTRINSIC |
Grip
|
719 |
766 |
8.28e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165455
|
SMART Domains |
Protein: ENSMUSP00000132415 Gene: ENSMUSG00000029708
Domain | Start | End | E-Value | Type |
coiled coil region
|
5 |
162 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000169841
|
SMART Domains |
Protein: ENSMUSP00000127281 Gene: ENSMUSG00000020440
Domain | Start | End | E-Value | Type |
ARF
|
1 |
180 |
5.83e-121 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170767
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202028
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
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. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. It may play a role in the organization of trans-Golgi network subcompartment involved with membrane transport. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
G |
T |
15: 94,236,604 (GRCm39) |
N805K |
probably damaging |
Het |
Add1 |
A |
C |
5: 34,758,877 (GRCm39) |
S64R |
probably damaging |
Het |
Alas1 |
A |
G |
9: 106,111,328 (GRCm39) |
F613L |
probably benign |
Het |
Ankrd17 |
A |
T |
5: 90,487,531 (GRCm39) |
|
probably benign |
Het |
Anks3 |
C |
T |
16: 4,776,001 (GRCm39) |
G67D |
probably damaging |
Het |
Aspm |
C |
T |
1: 139,407,269 (GRCm39) |
T2052I |
probably benign |
Het |
Atp8b4 |
C |
T |
2: 126,245,154 (GRCm39) |
V332I |
probably benign |
Het |
Bin2 |
CGGAGCTGA |
C |
15: 100,542,901 (GRCm39) |
|
probably null |
Het |
Bpifb3 |
T |
A |
2: 153,771,234 (GRCm39) |
M382K |
probably benign |
Het |
Ccdc149 |
C |
T |
5: 52,560,117 (GRCm39) |
R246Q |
probably damaging |
Het |
Ccdc57 |
T |
C |
11: 120,785,550 (GRCm39) |
K462E |
possibly damaging |
Het |
Cux1 |
T |
C |
5: 136,392,125 (GRCm39) |
T9A |
probably benign |
Het |
Cyp2c23 |
A |
G |
19: 44,000,799 (GRCm39) |
Y362H |
probably damaging |
Het |
D430041D05Rik |
A |
G |
2: 103,998,412 (GRCm39) |
I998T |
probably damaging |
Het |
Dclre1a |
A |
C |
19: 56,531,169 (GRCm39) |
Y726D |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,299,372 (GRCm39) |
V1578A |
probably benign |
Het |
Dppa4 |
C |
T |
16: 48,109,709 (GRCm39) |
R110* |
probably null |
Het |
Drc7 |
T |
A |
8: 95,800,820 (GRCm39) |
V614E |
probably benign |
Het |
Garin2 |
C |
A |
12: 78,762,210 (GRCm39) |
N12K |
probably damaging |
Het |
Greb1l |
G |
A |
18: 10,544,455 (GRCm39) |
D1350N |
probably benign |
Het |
Kcnc1 |
G |
A |
7: 46,076,956 (GRCm39) |
V253M |
probably damaging |
Het |
Krt78 |
T |
A |
15: 101,858,884 (GRCm39) |
I323F |
probably damaging |
Het |
Man2b2 |
A |
G |
5: 36,978,324 (GRCm39) |
V320A |
probably benign |
Het |
Mphosph9 |
A |
T |
5: 124,454,161 (GRCm39) |
F112Y |
probably benign |
Het |
Mrc1 |
A |
G |
2: 14,310,138 (GRCm39) |
T800A |
probably damaging |
Het |
Mroh1 |
C |
A |
15: 76,330,880 (GRCm39) |
A1197E |
probably damaging |
Het |
Nlrp10 |
A |
T |
7: 108,526,220 (GRCm39) |
H39Q |
probably benign |
Het |
Nop2 |
C |
T |
6: 125,120,982 (GRCm39) |
T588I |
probably benign |
Het |
Oxld1 |
A |
G |
11: 120,347,835 (GRCm39) |
S121P |
probably benign |
Het |
Pakap |
A |
G |
4: 57,855,273 (GRCm39) |
K444E |
possibly damaging |
Het |
Prox1 |
T |
A |
1: 189,894,436 (GRCm39) |
D3V |
probably damaging |
Het |
Ptk7 |
T |
C |
17: 46,876,296 (GRCm39) |
T1052A |
probably benign |
Het |
Rhot2 |
T |
A |
17: 26,060,085 (GRCm39) |
T299S |
probably benign |
Het |
Rhov |
A |
G |
2: 119,100,533 (GRCm39) |
F235L |
probably damaging |
Het |
Runx1t1 |
A |
T |
4: 13,841,863 (GRCm39) |
R158S |
probably damaging |
Het |
Runx1t1 |
A |
T |
4: 13,875,490 (GRCm39) |
E431D |
probably benign |
Het |
Sema3e |
A |
G |
5: 14,274,307 (GRCm39) |
E186G |
probably damaging |
Het |
Sema5b |
T |
A |
16: 35,466,572 (GRCm39) |
L158H |
probably damaging |
Het |
Serpina3j |
A |
G |
12: 104,280,946 (GRCm39) |
T40A |
probably benign |
Het |
Shroom3 |
A |
T |
5: 93,088,047 (GRCm39) |
S185C |
probably damaging |
Het |
Skint6 |
A |
T |
4: 112,666,276 (GRCm39) |
V1183D |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,739,732 (GRCm39) |
V3405A |
probably benign |
Het |
Supt16 |
C |
A |
14: 52,415,791 (GRCm39) |
R357L |
probably damaging |
Het |
Thrap3 |
A |
T |
4: 126,069,253 (GRCm39) |
|
probably null |
Het |
Topaz1 |
T |
C |
9: 122,578,104 (GRCm39) |
L338S |
probably benign |
Het |
Ttll3 |
T |
A |
6: 113,374,992 (GRCm39) |
Y139* |
probably null |
Het |
Ttn |
T |
G |
2: 76,626,251 (GRCm39) |
D6641A |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,743,163 (GRCm39) |
D886G |
probably benign |
Het |
Zc3h7a |
T |
A |
16: 10,968,526 (GRCm39) |
K484N |
probably damaging |
Het |
|
Other mutations in Gcc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00655:Gcc1
|
APN |
6 |
28,421,197 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01538:Gcc1
|
APN |
6 |
28,421,047 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02248:Gcc1
|
APN |
6 |
28,418,513 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02476:Gcc1
|
APN |
6 |
28,420,468 (GRCm39) |
missense |
probably benign |
|
IGL02725:Gcc1
|
APN |
6 |
28,418,458 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02733:Gcc1
|
APN |
6 |
28,420,661 (GRCm39) |
nonsense |
probably null |
|
IGL03065:Gcc1
|
APN |
6 |
28,418,401 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0049:Gcc1
|
UTSW |
6 |
28,421,268 (GRCm39) |
missense |
probably benign |
0.01 |
R0049:Gcc1
|
UTSW |
6 |
28,421,268 (GRCm39) |
missense |
probably benign |
0.01 |
R0197:Gcc1
|
UTSW |
6 |
28,420,615 (GRCm39) |
missense |
probably damaging |
0.99 |
R0631:Gcc1
|
UTSW |
6 |
28,421,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R1109:Gcc1
|
UTSW |
6 |
28,419,166 (GRCm39) |
missense |
probably damaging |
0.98 |
R1677:Gcc1
|
UTSW |
6 |
28,419,163 (GRCm39) |
missense |
probably benign |
|
R1698:Gcc1
|
UTSW |
6 |
28,421,110 (GRCm39) |
missense |
possibly damaging |
0.73 |
R2238:Gcc1
|
UTSW |
6 |
28,420,462 (GRCm39) |
missense |
probably benign |
|
R2267:Gcc1
|
UTSW |
6 |
28,418,498 (GRCm39) |
missense |
probably benign |
|
R4512:Gcc1
|
UTSW |
6 |
28,419,208 (GRCm39) |
missense |
probably benign |
0.08 |
R5237:Gcc1
|
UTSW |
6 |
28,420,651 (GRCm39) |
missense |
probably benign |
0.27 |
R5687:Gcc1
|
UTSW |
6 |
28,419,232 (GRCm39) |
splice site |
probably null |
|
R5829:Gcc1
|
UTSW |
6 |
28,419,690 (GRCm39) |
unclassified |
probably benign |
|
R6024:Gcc1
|
UTSW |
6 |
28,419,299 (GRCm39) |
missense |
probably benign |
0.00 |
R6238:Gcc1
|
UTSW |
6 |
28,420,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R7266:Gcc1
|
UTSW |
6 |
28,417,995 (GRCm39) |
makesense |
probably null |
|
R7822:Gcc1
|
UTSW |
6 |
28,418,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R7981:Gcc1
|
UTSW |
6 |
28,419,140 (GRCm39) |
missense |
probably benign |
0.44 |
R8498:Gcc1
|
UTSW |
6 |
28,418,029 (GRCm39) |
missense |
probably benign |
|
R8530:Gcc1
|
UTSW |
6 |
28,420,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R8688:Gcc1
|
UTSW |
6 |
28,418,739 (GRCm39) |
nonsense |
probably null |
|
R9031:Gcc1
|
UTSW |
6 |
28,418,182 (GRCm39) |
missense |
probably damaging |
0.99 |
R9233:Gcc1
|
UTSW |
6 |
28,418,710 (GRCm39) |
missense |
probably damaging |
0.99 |
R9242:Gcc1
|
UTSW |
6 |
28,420,375 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9483:Gcc1
|
UTSW |
6 |
28,418,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R9626:Gcc1
|
UTSW |
6 |
28,418,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R9660:Gcc1
|
UTSW |
6 |
28,420,544 (GRCm39) |
missense |
probably damaging |
0.96 |
R9728:Gcc1
|
UTSW |
6 |
28,420,544 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTTGCAGAGATCGGAGTG -3'
(R):5'- TGGTAAACTTCTAGTCTGCAGAG -3'
Sequencing Primer
(F):5'- CAGAGATCGGAGTGGTTTTAGTGAG -3'
(R):5'- TCTGCAGAGACCACTGAGG -3'
|
Posted On |
2017-06-27 |