Incidental Mutation 'R6024:Gcc1'
| ID |
479080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gcc1
|
| Ensembl Gene |
ENSMUSG00000029708 |
| Gene Name |
golgi coiled coil 1 |
| Synonyms |
4932417P04Rik |
| MMRRC Submission |
044196-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R6024 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
28416602-28421723 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28419299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 345
(T345A)
|
| 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: T345A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000067395
Gene: ENSMUSG00000029708
AA Change: T345A
| 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: T345A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000087997
Gene: ENSMUSG00000029708
AA Change: T345A
| 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 |
0.0586 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
100% (56/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,624,624 (GRCm39) |
F3782L |
probably benign |
Het |
| Akr1d1 |
T |
C |
6: 37,535,417 (GRCm39) |
I267T |
probably benign |
Het |
| Aoc1l1 |
A |
T |
6: 48,953,030 (GRCm39) |
K318N |
possibly damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,252,068 (GRCm39) |
S940P |
probably benign |
Het |
| Art2b |
A |
G |
7: 101,229,587 (GRCm39) |
I104T |
probably benign |
Het |
| Avpr1a |
A |
G |
10: 122,285,053 (GRCm39) |
Y115C |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,367,526 (GRCm39) |
L995Q |
probably damaging |
Het |
| Cenatac |
T |
C |
9: 44,329,249 (GRCm39) |
T13A |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,753,152 (GRCm39) |
K210E |
possibly damaging |
Het |
| Cog4 |
C |
T |
8: 111,608,112 (GRCm39) |
T735I |
probably damaging |
Het |
| Creb3l4 |
G |
A |
3: 90,146,006 (GRCm39) |
S206L |
probably damaging |
Het |
| Csf3r |
C |
A |
4: 125,931,310 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
G |
T |
12: 117,994,007 (GRCm39) |
S2346R |
probably benign |
Het |
| Dnai2 |
A |
T |
11: 114,643,734 (GRCm39) |
I467F |
possibly damaging |
Het |
| Dpy19l4 |
A |
T |
4: 11,276,876 (GRCm39) |
M523K |
probably damaging |
Het |
| Ebf3 |
T |
C |
7: 136,802,264 (GRCm39) |
D407G |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,209,908 (GRCm39) |
I991T |
probably benign |
Het |
| Gm1527 |
C |
T |
3: 28,974,752 (GRCm39) |
H522Y |
probably benign |
Het |
| Gm4846 |
T |
A |
1: 166,317,696 (GRCm39) |
Y240F |
probably benign |
Het |
| Hmgcl |
T |
C |
4: 135,682,926 (GRCm39) |
V126A |
probably benign |
Het |
| Ifit1bl2 |
G |
T |
19: 34,597,438 (GRCm39) |
S59R |
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,617,577 (GRCm39) |
N32S |
probably benign |
Het |
| Lcor |
C |
A |
19: 41,572,396 (GRCm39) |
P384T |
possibly damaging |
Het |
| Macc1 |
T |
C |
12: 119,414,160 (GRCm39) |
S779P |
probably benign |
Het |
| Mctp1 |
G |
T |
13: 76,533,280 (GRCm39) |
L209F |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,489,915 (GRCm39) |
N97S |
possibly damaging |
Het |
| Mst1r |
T |
A |
9: 107,785,350 (GRCm39) |
V336E |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,557,967 (GRCm39) |
S2775R |
unknown |
Het |
| Muc6 |
T |
A |
7: 141,227,841 (GRCm39) |
T1316S |
possibly damaging |
Het |
| Myh11 |
T |
A |
16: 14,095,567 (GRCm39) |
N65I |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,762,671 (GRCm39) |
N801D |
possibly damaging |
Het |
| Nkain2 |
A |
T |
10: 31,827,281 (GRCm39) |
M103K |
probably damaging |
Het |
| Nkx2-2 |
T |
A |
2: 147,025,961 (GRCm39) |
Y259F |
probably benign |
Het |
| Nrxn1 |
T |
C |
17: 90,897,526 (GRCm39) |
M877V |
possibly damaging |
Het |
| Nxf1 |
C |
T |
19: 8,745,108 (GRCm39) |
L453F |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,255,871 (GRCm39) |
S790G |
possibly damaging |
Het |
| Phf3 |
T |
C |
1: 30,902,307 (GRCm39) |
D2G |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,838,898 (GRCm39) |
|
probably benign |
Het |
| Ptpn3 |
C |
A |
4: 57,248,653 (GRCm39) |
|
probably null |
Het |
| Pygl |
T |
C |
12: 70,243,841 (GRCm39) |
T625A |
probably benign |
Het |
| R3hdm2 |
T |
A |
10: 127,295,349 (GRCm39) |
F239I |
probably damaging |
Het |
| Sesn1 |
A |
T |
10: 41,772,196 (GRCm39) |
I242F |
probably damaging |
Het |
| Shank2 |
C |
T |
7: 143,733,768 (GRCm39) |
T105I |
probably benign |
Het |
| Skint3 |
T |
C |
4: 112,147,543 (GRCm39) |
F350S |
possibly damaging |
Het |
| Slco5a1 |
T |
C |
1: 13,014,294 (GRCm39) |
Y320C |
probably damaging |
Het |
| Syt11 |
A |
G |
3: 88,669,416 (GRCm39) |
S159P |
probably benign |
Het |
| Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,814,498 (GRCm39) |
S1981P |
probably damaging |
Het |
| Tmem200c |
A |
C |
17: 69,148,722 (GRCm39) |
D435A |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,966,066 (GRCm39) |
V1125A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,644,487 (GRCm39) |
V4762A |
possibly damaging |
Het |
| Unc5d |
A |
G |
8: 29,365,539 (GRCm39) |
S149P |
possibly damaging |
Het |
| Usf3 |
A |
T |
16: 44,040,203 (GRCm39) |
N1561I |
probably damaging |
Het |
| Wdr4 |
A |
T |
17: 31,720,272 (GRCm39) |
|
probably benign |
Het |
| Wdr49 |
T |
G |
3: 75,209,133 (GRCm39) |
E612D |
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 |
|
|
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'- TGCAGAAGTCGCTCCTTCAG -3'
(R):5'- AAGGGAAAGAATGTTACACGGTTTC -3'
Sequencing Primer
(F):5'- GCTCCTTCAGCTTCTGGATGG -3'
(R):5'- CACGGTTTCTTTAAATGATTTGGC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation