Incidental Mutation 'IGL02476:Gcc1'
ID294945
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcc1
Ensembl Gene ENSMUSG00000029708
Gene Namegolgi coiled coil 1
Synonyms4932417P04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.139) question?
Stock #IGL02476
Quality Score
Status
Chromosome6
Chromosomal Location28416091-28428390 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 28420469 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 283 (D283G)
Ref Sequence ENSEMBL: ENSMUSP00000087997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020717] [ENSMUST00000064377] [ENSMUST00000090511] [ENSMUST00000169841] [ENSMUST00000170767]
Predicted Effect probably benign
Transcript: ENSMUST00000020717
SMART Domains Protein: ENSMUSP00000020717
Gene: ENSMUSG00000020440

DomainStartEndE-ValueType
ARF 1 180 5.83e-121 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000064377
AA Change: D283G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067395
Gene: ENSMUSG00000029708
AA Change: D283G

DomainStartEndE-ValueType
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: D283G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087997
Gene: ENSMUSG00000029708
AA Change: D283G

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000165455
AA Change: D130G
SMART Domains Protein: ENSMUSP00000132415
Gene: ENSMUSG00000029708
AA Change: D130G

DomainStartEndE-ValueType
coiled coil region 5 162 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169841
SMART Domains Protein: ENSMUSP00000127281
Gene: ENSMUSG00000020440

DomainStartEndE-ValueType
ARF 1 180 5.83e-121 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202028
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp T A 1: 74,281,524 probably benign Het
Birc6 A G 17: 74,696,391 E4752G possibly damaging Het
Chd1 C T 17: 15,734,273 P468S probably damaging Het
Cnot3 A G 7: 3,658,068 D556G probably benign Het
Csnk1d A G 11: 120,972,512 Y201H probably damaging Het
Dhtkd1 A G 2: 5,930,906 S132P possibly damaging Het
Dhx58 G T 11: 100,702,264 Q206K probably benign Het
Dio1 C A 4: 107,292,377 V195F probably damaging Het
Dio3 T C 12: 110,279,482 V84A probably benign Het
Extl3 T C 14: 65,077,244 K163R probably benign Het
Fat2 A T 11: 55,311,124 S375T probably damaging Het
Fbrs A G 7: 127,487,669 D73G probably damaging Het
Fnip1 A G 11: 54,499,567 probably benign Het
Frmpd4 A G X: 167,497,855 V343A probably damaging Het
Ghr T C 15: 3,320,046 D550G probably damaging Het
Glycam1 G A 15: 103,562,880 probably benign Het
Gpatch8 A G 11: 102,478,591 S1374P probably damaging Het
Grm1 A T 10: 10,689,453 M1037K probably benign Het
Gtpbp3 T C 8: 71,492,598 L438P probably damaging Het
Ifi205 G T 1: 174,015,061 N356K probably damaging Het
Ifi206 A G 1: 173,481,566 L288P probably benign Het
Ift57 T C 16: 49,763,889 V291A probably benign Het
Kif13a A C 13: 46,785,296 C166G probably damaging Het
Lypd6 A G 2: 50,190,728 T143A possibly damaging Het
Mtus2 G A 5: 148,077,938 A514T probably benign Het
Neu2 T C 1: 87,596,952 W220R probably damaging Het
Notch3 T C 17: 32,158,638 S155G possibly damaging Het
Nrxn2 A G 19: 6,454,985 E286G probably damaging Het
Onecut3 A G 10: 80,513,890 E406G probably benign Het
Oog2 T A 4: 144,195,229 D236E probably benign Het
Pck1 A G 2: 173,158,282 H502R probably benign Het
Pld1 A G 3: 28,048,039 Y313C probably damaging Het
Rhox3f A T X: 37,581,539 probably benign Het
Rpl34 A G 3: 130,726,964 probably benign Het
Sema4c T C 1: 36,555,950 K31E probably damaging Het
Sept11 T C 5: 93,148,584 probably null Het
Slc4a9 T A 18: 36,535,445 probably null Het
Snrnp200 T A 2: 127,217,488 S434T probably benign Het
Snx13 A T 12: 35,086,941 I134F probably damaging Het
Syt2 T C 1: 134,747,631 S407P probably benign Het
Tbc1d19 T C 5: 53,889,413 probably null Het
Tbc1d32 G T 10: 56,198,542 Q192K possibly damaging Het
Ubr4 T A 4: 139,421,249 C1681* probably null Het
Vmn1r43 T A 6: 89,870,061 I148F possibly damaging Het
Vwa8 T C 14: 78,925,341 V187A possibly damaging Het
Wdr78 T A 4: 103,087,348 I3L possibly damaging Het
Other mutations in Gcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00655:Gcc1 APN 6 28421198 missense possibly damaging 0.89
IGL01538:Gcc1 APN 6 28421048 missense probably damaging 1.00
IGL02248:Gcc1 APN 6 28418514 missense probably damaging 1.00
IGL02725:Gcc1 APN 6 28418459 missense probably benign 0.02
IGL02733:Gcc1 APN 6 28420662 nonsense probably null
IGL03065:Gcc1 APN 6 28418402 missense possibly damaging 0.95
R0049:Gcc1 UTSW 6 28421269 missense probably benign 0.01
R0049:Gcc1 UTSW 6 28421269 missense probably benign 0.01
R0197:Gcc1 UTSW 6 28420616 missense probably damaging 0.99
R0631:Gcc1 UTSW 6 28421010 missense probably damaging 1.00
R1109:Gcc1 UTSW 6 28419167 missense probably damaging 0.98
R1677:Gcc1 UTSW 6 28419164 missense probably benign
R1698:Gcc1 UTSW 6 28421111 missense possibly damaging 0.73
R2238:Gcc1 UTSW 6 28420463 missense probably benign
R2267:Gcc1 UTSW 6 28418499 missense probably benign
R4512:Gcc1 UTSW 6 28419209 missense probably benign 0.08
R5237:Gcc1 UTSW 6 28420652 missense probably benign 0.27
R5687:Gcc1 UTSW 6 28419233 unclassified probably null
R5829:Gcc1 UTSW 6 28419691 unclassified probably benign
R5993:Gcc1 UTSW 6 28424852 intron probably null
R6024:Gcc1 UTSW 6 28419300 missense probably benign 0.00
R6238:Gcc1 UTSW 6 28420743 missense probably damaging 1.00
R7266:Gcc1 UTSW 6 28417996 makesense probably null
Posted On2015-04-16