Incidental Mutation 'R7981:Gcc1'
| ID |
651207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gcc1
|
| Ensembl Gene |
ENSMUSG00000029708 |
| Gene Name |
golgi coiled coil 1 |
| Synonyms |
4932417P04Rik |
| MMRRC Submission |
046022-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R7981 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
28416602-28421723 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28419140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 398
(L398F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067395
(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: L398F
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000067395
Gene: ENSMUSG00000029708
AA Change: L398F
| 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: L398F
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000087997
Gene: ENSMUSG00000029708
AA Change: L398F
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,784,360 (GRCm39) |
F278I |
probably damaging |
Het |
| Abca8a |
T |
C |
11: 109,980,739 (GRCm39) |
T100A |
probably benign |
Het |
| Adam34l |
A |
G |
8: 44,078,850 (GRCm39) |
F458S |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,094,588 (GRCm39) |
T740A |
unknown |
Het |
| Aldh1a2 |
A |
T |
9: 71,171,102 (GRCm39) |
I197F |
probably damaging |
Het |
| Ankrd28 |
T |
C |
14: 31,424,114 (GRCm39) |
T1009A |
probably benign |
Het |
| Antxrl |
T |
C |
14: 33,787,838 (GRCm39) |
V287A |
probably damaging |
Het |
| Baiap2l1 |
G |
A |
5: 144,294,700 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
T |
C |
17: 56,938,562 (GRCm39) |
V30A |
possibly damaging |
Het |
| Ccdc150 |
A |
T |
1: 54,407,551 (GRCm39) |
K1109M |
probably damaging |
Het |
| Ccdc28a |
A |
G |
10: 18,094,127 (GRCm39) |
L164P |
probably benign |
Het |
| Cnot1 |
C |
T |
8: 96,489,797 (GRCm39) |
V469M |
probably damaging |
Het |
| Col16a1 |
T |
G |
4: 129,980,347 (GRCm39) |
|
probably null |
Het |
| Coq9 |
A |
G |
8: 95,569,285 (GRCm39) |
H39R |
probably benign |
Het |
| Crh |
T |
A |
3: 19,748,216 (GRCm39) |
E142V |
probably benign |
Het |
| Depdc1a |
A |
G |
3: 159,226,488 (GRCm39) |
N265S |
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,208,213 (GRCm39) |
T998A |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,052,929 (GRCm39) |
|
probably null |
Het |
| Gde1 |
T |
C |
7: 118,288,264 (GRCm39) |
T320A |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,036,231 (GRCm39) |
D704G |
probably damaging |
Het |
| Gfi1 |
G |
A |
5: 107,873,543 (GRCm39) |
|
probably benign |
Het |
| Insc |
A |
G |
7: 114,428,302 (GRCm39) |
T92A |
probably damaging |
Het |
| Krtap6-2 |
T |
C |
16: 89,216,562 (GRCm39) |
Y135C |
unknown |
Het |
| Lpcat2 |
T |
C |
8: 93,582,182 (GRCm39) |
S34P |
probably damaging |
Het |
| Mansc1 |
T |
C |
6: 134,587,274 (GRCm39) |
D301G |
possibly damaging |
Het |
| Mbl2 |
C |
A |
19: 30,216,737 (GRCm39) |
T183K |
probably damaging |
Het |
| Mri1 |
A |
C |
8: 84,983,792 (GRCm39) |
V33G |
possibly damaging |
Het |
| Mrps7 |
T |
C |
11: 115,497,687 (GRCm39) |
M184T |
possibly damaging |
Het |
| Mug1 |
A |
T |
6: 121,858,723 (GRCm39) |
Y1147F |
probably damaging |
Het |
| N4bp2 |
C |
T |
5: 65,969,485 (GRCm39) |
H1416Y |
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,366,092 (GRCm39) |
F487S |
probably damaging |
Het |
| Nin |
C |
T |
12: 70,089,591 (GRCm39) |
V1275I |
|
Het |
| Or4c116 |
A |
G |
2: 88,942,400 (GRCm39) |
F152S |
probably damaging |
Het |
| Or55b3 |
A |
T |
7: 102,127,036 (GRCm39) |
Y14N |
probably damaging |
Het |
| Pik3c2b |
A |
T |
1: 133,003,547 (GRCm39) |
|
probably null |
Het |
| Pkn1 |
G |
T |
8: 84,407,637 (GRCm39) |
N463K |
probably damaging |
Het |
| Pramel24 |
T |
G |
4: 143,453,452 (GRCm39) |
F187V |
probably benign |
Het |
| Rab11fip3 |
C |
T |
17: 26,216,963 (GRCm39) |
S816N |
probably damaging |
Het |
| Rassf4 |
G |
T |
6: 116,617,218 (GRCm39) |
D262E |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,311,384 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
G |
6: 48,445,428 (GRCm39) |
T2290A |
probably benign |
Het |
| Sumf1 |
A |
G |
6: 108,129,186 (GRCm39) |
|
probably null |
Het |
| Syne1 |
T |
C |
10: 5,179,248 (GRCm39) |
K4409E |
probably benign |
Het |
| Tasor |
T |
C |
14: 27,168,373 (GRCm39) |
V305A |
possibly damaging |
Het |
| Tmco4 |
T |
G |
4: 138,785,772 (GRCm39) |
L614R |
probably damaging |
Het |
| Tmem67 |
G |
T |
4: 12,070,592 (GRCm39) |
N245K |
probably damaging |
Het |
| Trim58 |
T |
C |
11: 58,542,138 (GRCm39) |
V366A |
probably benign |
Het |
| Vmn1r123 |
T |
C |
7: 20,896,914 (GRCm39) |
S269P |
probably damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,327,887 (GRCm39) |
S494T |
probably benign |
Het |
| Zbtb26 |
T |
A |
2: 37,326,887 (GRCm39) |
I50L |
possibly 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 |
|
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'- CGGAGTTGGCCATTATCTCAG -3'
(R):5'- GGATGCCTTGTCACCTGTTC -3'
Sequencing Primer
(F):5'- CATTATCTCAGGGTCGCAGAG -3'
(R):5'- GTTCTTTGCTTTGCAGACAGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation