Incidental Mutation 'R8530:Gcc1'
| ID |
658986 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gcc1
|
| Ensembl Gene |
ENSMUSG00000029708 |
| Gene Name |
golgi coiled coil 1 |
| Synonyms |
4932417P04Rik |
| MMRRC Submission |
068500-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R8530 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
28416602-28421723 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 28420730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 196
(D196Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020717]
[ENSMUST00000064377]
[ENSMUST00000090511]
[ENSMUST00000169841]
[ENSMUST00000170767]
|
| AlphaFold |
Q9D4H2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020717
|
| SMART Domains |
Protein: ENSMUSP00000020717
Gene: ENSMUSG00000020440
| Domain | Start | End | E-Value | Type |
|---|
|
ARF
|
1 |
180 |
5.83e-121 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064377
AA Change: D196Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067395
Gene: ENSMUSG00000029708
AA Change: D196Y
| 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 damaging
Transcript: ENSMUST00000090511
AA Change: D196Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087997
Gene: ENSMUSG00000029708
AA Change: D196Y
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000132415
Gene: ENSMUSG00000029708
AA Change: D43Y
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
5 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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 |
|---|
| 1110002E22Rik |
G |
C |
3: 137,774,586 (GRCm39) |
E1258D |
probably damaging |
Het |
| 4930407I10Rik |
T |
A |
15: 81,949,587 (GRCm39) |
H1161Q |
probably damaging |
Het |
| Adam20 |
A |
G |
8: 41,249,071 (GRCm39) |
S394G |
probably damaging |
Het |
| Akr1c12 |
A |
T |
13: 4,320,160 (GRCm39) |
F310Y |
probably benign |
Het |
| Ank |
G |
A |
15: 27,544,490 (GRCm39) |
A84T |
probably benign |
Het |
| Bcas1 |
A |
T |
2: 170,229,868 (GRCm39) |
I244K |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,339,043 (GRCm39) |
|
probably null |
Het |
| Car14 |
T |
C |
3: 95,807,670 (GRCm39) |
H79R |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,295,860 (GRCm39) |
Y735H |
probably damaging |
Het |
| Cdh11 |
G |
A |
8: 103,391,387 (GRCm39) |
P283L |
probably benign |
Het |
| Cfi |
C |
T |
3: 129,644,382 (GRCm39) |
T126I |
possibly damaging |
Het |
| Col6a4 |
T |
A |
9: 105,957,704 (GRCm39) |
H40L |
probably benign |
Het |
| Dbh |
A |
G |
2: 27,058,318 (GRCm39) |
D162G |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,492,511 (GRCm39) |
K1657R |
probably damaging |
Het |
| E2f7 |
T |
A |
10: 110,614,859 (GRCm39) |
V521D |
probably benign |
Het |
| Eif3g |
A |
C |
9: 20,809,026 (GRCm39) |
S93A |
possibly damaging |
Het |
| Fa2h |
T |
C |
8: 112,082,788 (GRCm39) |
E143G |
probably benign |
Het |
| Foxc1 |
C |
A |
13: 31,991,771 (GRCm39) |
P194Q |
probably benign |
Het |
| Fyco1 |
A |
G |
9: 123,669,605 (GRCm39) |
|
probably null |
Het |
| Gabrb3 |
T |
C |
7: 57,461,819 (GRCm39) |
S256P |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,325,910 (GRCm39) |
D1461E |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hps6 |
A |
T |
19: 45,991,959 (GRCm39) |
|
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,409,474 (GRCm39) |
I81F |
probably damaging |
Het |
| Man2c1 |
G |
T |
9: 57,038,922 (GRCm39) |
D111Y |
probably damaging |
Het |
| Mast3 |
A |
T |
8: 71,240,877 (GRCm39) |
I240N |
possibly damaging |
Het |
| Matn1 |
A |
T |
4: 130,677,447 (GRCm39) |
K219* |
probably null |
Het |
| Nup210 |
C |
G |
6: 91,053,627 (GRCm39) |
A297P |
possibly damaging |
Het |
| Or5d43 |
A |
T |
2: 88,105,154 (GRCm39) |
L80I |
probably damaging |
Het |
| Or6d12 |
T |
A |
6: 116,493,530 (GRCm39) |
I264K |
probably damaging |
Het |
| Pcare |
T |
C |
17: 72,059,101 (GRCm39) |
Y192C |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,256,039 (GRCm39) |
R734W |
probably damaging |
Het |
| Phactr3 |
A |
G |
2: 177,925,819 (GRCm39) |
N360D |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Potefam3a |
T |
C |
8: 20,356,984 (GRCm38) |
N242S |
probably benign |
Het |
| Qtrt2 |
C |
A |
16: 43,689,407 (GRCm39) |
G197V |
probably damaging |
Het |
| Rabep1 |
A |
T |
11: 70,810,068 (GRCm39) |
L500F |
probably damaging |
Het |
| Rhof |
T |
A |
5: 123,257,581 (GRCm39) |
D183V |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,027,678 (GRCm39) |
V95A |
probably benign |
Het |
| Spata31d1b |
A |
T |
13: 59,864,964 (GRCm39) |
N704I |
unknown |
Het |
| Tas1r2 |
A |
T |
4: 139,389,460 (GRCm39) |
Y452F |
probably benign |
Het |
| Tc2n |
A |
T |
12: 101,617,444 (GRCm39) |
F325Y |
possibly damaging |
Het |
| Tiam2 |
G |
T |
17: 3,501,087 (GRCm39) |
V909L |
probably benign |
Het |
| Tlx1 |
A |
T |
19: 45,139,524 (GRCm39) |
Y57F |
probably benign |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,513,576 (GRCm39) |
W356R |
probably damaging |
Het |
| Wars1 |
G |
A |
12: 108,848,818 (GRCm39) |
A43V |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,770,852 (GRCm39) |
I694N |
possibly damaging |
Het |
| Zfp120 |
A |
G |
2: 149,959,168 (GRCm39) |
Y385H |
probably benign |
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 |
|
R8498:Gcc1
|
UTSW |
6 |
28,418,029 (GRCm39) |
missense |
probably benign |
|
|
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'- CCTCCTGCAAGAGCTTCTGAAG -3'
(R):5'- TTGAAGATGACAGAGCGGCC -3'
Sequencing Primer
(F):5'- TTCTGAAGCTCGCGCAG -3'
(R):5'- TTCCCCCAAAGTCTGAAGAGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation