Incidental Mutation 'R8498:Gcc1'
ID |
658367 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gcc1
|
Ensembl Gene |
ENSMUSG00000029708 |
Gene Name |
golgi coiled coil 1 |
Synonyms |
4932417P04Rik |
MMRRC Submission |
067940-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R8498 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
28416602-28421723 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 28418029 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Isoleucine
at position 768
(S768I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064377]
[ENSMUST00000090511]
[ENSMUST00000170767]
|
AlphaFold |
Q9D4H2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064377
AA Change: S768I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000067395 Gene: ENSMUSG00000029708 AA Change: S768I
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
AA Change: S768I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000087997 Gene: ENSMUSG00000029708 AA Change: S768I
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 benign
Transcript: ENSMUST00000170767
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (43/43) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
G |
T |
1: 120,096,872 (GRCm39) |
|
probably null |
Het |
Amigo1 |
A |
G |
3: 108,095,751 (GRCm39) |
M417V |
probably benign |
Het |
Celsr1 |
G |
T |
15: 85,823,306 (GRCm39) |
Q1701K |
probably benign |
Het |
Cfhr2 |
G |
T |
1: 139,741,219 (GRCm39) |
T252K |
possibly damaging |
Het |
Cntnap4 |
T |
A |
8: 113,602,211 (GRCm39) |
V1205E |
possibly damaging |
Het |
Ctsb |
T |
C |
14: 63,370,881 (GRCm39) |
I31T |
probably benign |
Het |
Cyp4f13 |
G |
C |
17: 33,143,833 (GRCm39) |
P497R |
probably damaging |
Het |
Dna2 |
A |
G |
10: 62,809,094 (GRCm39) |
D1062G |
probably benign |
Het |
Dnah7a |
A |
C |
1: 53,657,139 (GRCm39) |
M879R |
probably benign |
Het |
Gm29106 |
T |
C |
1: 118,128,218 (GRCm39) |
Y637H |
probably damaging |
Het |
Gm4787 |
T |
C |
12: 81,425,840 (GRCm39) |
D106G |
probably damaging |
Het |
Gm527 |
T |
A |
12: 64,967,782 (GRCm39) |
V68D |
probably damaging |
Het |
Grm1 |
A |
T |
10: 10,955,605 (GRCm39) |
Y226* |
probably null |
Het |
Hkdc1 |
T |
C |
10: 62,221,662 (GRCm39) |
R799G |
probably benign |
Het |
Ier2 |
T |
C |
8: 85,389,353 (GRCm39) |
I10V |
probably damaging |
Het |
Ifi209 |
A |
G |
1: 173,470,069 (GRCm39) |
N219S |
probably benign |
Het |
Iqcn |
T |
C |
8: 71,162,625 (GRCm39) |
I606T |
probably benign |
Het |
Krt88 |
A |
G |
15: 101,351,406 (GRCm39) |
S138G |
probably benign |
Het |
Lrrc3 |
T |
C |
10: 77,736,824 (GRCm39) |
D204G |
probably damaging |
Het |
Mllt6 |
T |
C |
11: 97,567,688 (GRCm39) |
I705T |
possibly damaging |
Het |
Mpl |
G |
A |
4: 118,306,207 (GRCm39) |
P278S |
probably benign |
Het |
Nkx3-2 |
T |
C |
5: 41,920,989 (GRCm39) |
E100G |
probably benign |
Het |
Or13p8 |
A |
T |
4: 118,583,822 (GRCm39) |
Y126F |
possibly damaging |
Het |
Or56b1b |
A |
T |
7: 108,164,833 (GRCm39) |
C56* |
probably null |
Het |
Or8b12b |
G |
A |
9: 37,684,560 (GRCm39) |
V202M |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 74,317,974 (GRCm39) |
V992I |
probably damaging |
Het |
Pcdhgc5 |
A |
G |
18: 37,953,487 (GRCm39) |
N254D |
probably damaging |
Het |
Pdgfd |
A |
G |
9: 6,288,655 (GRCm39) |
E103G |
probably damaging |
Het |
Ppp2r1b |
C |
T |
9: 50,778,194 (GRCm39) |
R304* |
probably null |
Het |
Pramel30 |
A |
G |
4: 144,058,233 (GRCm39) |
D280G |
probably benign |
Het |
Prdm2 |
G |
A |
4: 142,907,467 (GRCm39) |
A35V |
probably damaging |
Het |
Psd |
T |
C |
19: 46,312,788 (GRCm39) |
N194S |
probably damaging |
Het |
Rasgef1c |
A |
T |
11: 49,862,248 (GRCm39) |
E379V |
probably damaging |
Het |
Rnf43 |
A |
T |
11: 87,618,267 (GRCm39) |
I186F |
probably damaging |
Het |
Ros1 |
C |
T |
10: 52,055,047 (GRCm39) |
C85Y |
probably damaging |
Het |
Setd2 |
T |
A |
9: 110,378,989 (GRCm39) |
L935I |
probably damaging |
Het |
Slc2a5 |
A |
G |
4: 150,210,590 (GRCm39) |
Q46R |
probably benign |
Het |
Ss18l1 |
A |
T |
2: 179,699,968 (GRCm39) |
Q276L |
probably damaging |
Het |
Tas2r129 |
A |
T |
6: 132,928,815 (GRCm39) |
M251L |
probably benign |
Het |
Thoc1 |
A |
G |
18: 9,989,693 (GRCm39) |
E458G |
probably benign |
Het |
Wdr35 |
T |
A |
12: 9,058,626 (GRCm39) |
N594K |
probably damaging |
Het |
Zzef1 |
T |
A |
11: 72,744,148 (GRCm39) |
C835S |
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 |
|
R5993:Gcc1
|
UTSW |
6 |
28,424,851 (GRCm39) |
splice site |
probably null |
|
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 |
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'- TGCTCTGAGTTCAACACAGTG -3'
(R):5'- AGGTAGAAGCCCATCAGCTG -3'
Sequencing Primer
(F):5'- CACGGAGATTTCAGGAGTT -3'
(R):5'- CCCATCAGCTGCAGGAAAGG -3'
|
Posted On |
2021-01-18 |