Incidental Mutation 'R4512:Gcc1'
| ID |
331263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gcc1
|
| Ensembl Gene |
ENSMUSG00000029708 |
| Gene Name |
golgi coiled coil 1 |
| Synonyms |
4932417P04Rik |
| MMRRC Submission |
041587-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R4512 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
28416602-28421723 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28419208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 375
(E375G)
|
| 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 benign
Transcript: ENSMUST00000064377
AA Change: E375G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000067395
Gene: ENSMUSG00000029708
AA Change: E375G
| 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: E375G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000087997
Gene: ENSMUSG00000029708
AA Change: E375G
| 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: 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
|
| Meta Mutation Damage Score |
0.0749 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
99% (67/68) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,978,573 (GRCm39) |
D573V |
probably damaging |
Het |
| Adgrg5 |
T |
C |
8: 95,660,652 (GRCm39) |
V93A |
possibly damaging |
Het |
| Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,478,120 (GRCm39) |
|
probably benign |
Het |
| Aopep |
A |
T |
13: 63,304,481 (GRCm39) |
T497S |
probably damaging |
Het |
| Atp6v1h |
T |
C |
1: 5,168,358 (GRCm39) |
|
probably null |
Het |
| Aup1 |
C |
T |
6: 83,033,368 (GRCm39) |
R248* |
probably null |
Het |
| BC016579 |
C |
A |
16: 45,453,363 (GRCm39) |
A151S |
possibly damaging |
Het |
| Cenpn |
A |
G |
8: 117,660,135 (GRCm39) |
Y68C |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,543,259 (GRCm39) |
D799G |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,155,399 (GRCm39) |
R739W |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,085,009 (GRCm39) |
C553* |
probably null |
Het |
| Fhl4 |
A |
G |
10: 84,934,578 (GRCm39) |
S68P |
possibly damaging |
Het |
| Gm10110 |
A |
G |
14: 90,135,151 (GRCm39) |
|
noncoding transcript |
Het |
| Hspbap1 |
C |
T |
16: 35,607,611 (GRCm39) |
S39F |
probably damaging |
Het |
| Lmln |
G |
A |
16: 32,908,507 (GRCm39) |
R311Q |
probably benign |
Het |
| Ly6e |
T |
A |
15: 74,829,682 (GRCm39) |
V24D |
probably damaging |
Het |
| Magi3 |
T |
C |
3: 103,996,871 (GRCm39) |
T225A |
probably damaging |
Het |
| Mark1 |
C |
A |
1: 184,639,286 (GRCm39) |
R577L |
probably benign |
Het |
| Mlxip |
G |
T |
5: 123,533,128 (GRCm39) |
V46L |
probably benign |
Het |
| Mrpl40 |
T |
C |
16: 18,691,308 (GRCm39) |
D134G |
probably benign |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,532,860 (GRCm39) |
Y1300C |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,529,943 (GRCm39) |
I2133V |
possibly damaging |
Het |
| Ndst3 |
T |
C |
3: 123,465,315 (GRCm39) |
D219G |
probably damaging |
Het |
| Nfkbie |
C |
T |
17: 45,867,165 (GRCm39) |
S100L |
probably benign |
Het |
| Oard1 |
A |
G |
17: 48,723,788 (GRCm39) |
I145V |
probably benign |
Het |
| Odf2 |
C |
T |
2: 29,816,109 (GRCm39) |
|
probably null |
Het |
| Oplah |
A |
G |
15: 76,182,155 (GRCm39) |
L1035P |
probably damaging |
Het |
| Or4n4b |
C |
A |
14: 50,536,453 (GRCm39) |
L104F |
probably damaging |
Het |
| Or51t4 |
T |
C |
7: 102,597,945 (GRCm39) |
L81P |
probably damaging |
Het |
| Or5m3b |
T |
C |
2: 85,871,913 (GRCm39) |
S85P |
probably damaging |
Het |
| Otud7a |
T |
C |
7: 63,379,625 (GRCm39) |
F284L |
probably benign |
Het |
| Parg |
T |
C |
14: 31,984,693 (GRCm39) |
V241A |
probably damaging |
Het |
| Pla2g4a |
T |
A |
1: 149,736,802 (GRCm39) |
|
probably null |
Het |
| Psd4 |
C |
T |
2: 24,292,901 (GRCm39) |
R684C |
probably damaging |
Het |
| Pttg1ip |
T |
C |
10: 77,432,902 (GRCm39) |
|
probably benign |
Het |
| R3hcc1 |
A |
G |
14: 69,936,060 (GRCm39) |
S250P |
probably damaging |
Het |
| Rere |
T |
A |
4: 150,561,909 (GRCm39) |
Y272N |
unknown |
Het |
| Selplg |
A |
G |
5: 113,957,124 (GRCm39) |
V394A |
probably benign |
Het |
| Senp7 |
T |
G |
16: 55,986,246 (GRCm39) |
F559V |
probably damaging |
Het |
| Slc16a7 |
T |
G |
10: 125,069,308 (GRCm39) |
|
probably null |
Het |
| Smim3 |
A |
T |
18: 60,608,556 (GRCm39) |
V32D |
probably damaging |
Het |
| Spsb3 |
A |
G |
17: 25,109,270 (GRCm39) |
D47G |
probably damaging |
Het |
| St6gal2 |
A |
T |
17: 55,790,018 (GRCm39) |
N351Y |
probably benign |
Het |
| Stk11 |
T |
C |
10: 79,962,211 (GRCm39) |
|
probably benign |
Het |
| Susd1 |
A |
T |
4: 59,329,491 (GRCm39) |
L646Q |
possibly damaging |
Het |
| Tmprss11a |
A |
G |
5: 86,576,437 (GRCm39) |
V138A |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,728,969 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,580,814 (GRCm39) |
K15033E |
probably damaging |
Het |
| Tyrp1 |
G |
T |
4: 80,755,749 (GRCm39) |
D173Y |
probably damaging |
Het |
| Uncx |
A |
G |
5: 139,532,522 (GRCm39) |
I196V |
possibly damaging |
Het |
| Vamp4 |
A |
T |
1: 162,405,457 (GRCm39) |
D28V |
possibly damaging |
Het |
| Vmn2r78 |
C |
T |
7: 86,569,452 (GRCm39) |
S115F |
probably benign |
Het |
| Zeb1 |
G |
A |
18: 5,759,007 (GRCm39) |
C138Y |
probably damaging |
Het |
| Zfp985 |
G |
A |
4: 147,668,020 (GRCm39) |
C296Y |
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 |
|
|
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 |
|
|
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'- GGCTTTTCCTAGCTGCAACC -3'
(R):5'- ACTTGTTCTGGGTTATTCCAAGC -3'
Sequencing Primer
(F):5'- CCTAGCTGCAACCTGTAGTAG -3'
(R):5'- GGTTATTCCAAGCCCTGTTCAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation