Incidental Mutation 'IGL02733:Gcc1'
ID305554
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: 0.145) question?
Stock #IGL02733
Quality Score
Status
Chromosome6
Chromosomal Location28416091-28428390 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 28420662 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 66 (Q66*)
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 null
Transcript: ENSMUST00000064377
AA Change: Q219*
SMART Domains Protein: ENSMUSP00000067395
Gene: ENSMUSG00000029708
AA Change: Q219*

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 null
Transcript: ENSMUST00000090511
AA Change: Q219*
SMART Domains Protein: ENSMUSP00000087997
Gene: ENSMUSG00000029708
AA Change: Q219*

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 null
Transcript: ENSMUST00000165455
AA Change: Q66*
SMART Domains Protein: ENSMUSP00000132415
Gene: ENSMUSG00000029708
AA Change: Q66*

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 T A 4: 49,447,793 T245S probably benign Het
Agl T C 3: 116,780,997 I718V probably benign Het
Cbs T A 17: 31,625,031 N209Y probably benign Het
Cd163 T C 6: 124,325,341 C955R probably damaging Het
Dnajb3 A G 1: 88,204,940 probably benign Het
Dopey2 G A 16: 93,739,191 R59Q possibly damaging Het
Dtx1 A G 5: 120,681,435 L566P probably damaging Het
Fam198a A G 9: 121,965,028 R83G probably benign Het
Fgf14 G T 14: 123,983,801 P197Q probably damaging Het
Gypc T C 18: 32,559,826 probably benign Het
Helz2 G A 2: 181,235,026 A1225V probably benign Het
Herc1 A G 9: 66,450,992 T2452A probably benign Het
Hoxc4 A G 15: 103,034,726 I2V probably benign Het
Impa1 A G 3: 10,328,965 I14T probably benign Het
Itih1 T A 14: 30,936,720 D400V probably damaging Het
Lama3 T C 18: 12,578,127 Y3206H probably damaging Het
Lce1k T A 3: 92,806,885 probably benign Het
Mcpt4 C T 14: 56,060,667 M142I probably benign Het
Myo15b A G 11: 115,884,250 E2168G probably benign Het
Myom3 G T 4: 135,814,303 E1402* probably null Het
Nfyb G T 10: 82,755,033 Q55K probably damaging Het
Nobox T C 6: 43,307,202 K137E possibly damaging Het
Pnlip T A 19: 58,680,788 D406E probably benign Het
Pole A T 5: 110,312,728 probably benign Het
Ppp2r2b T C 18: 42,648,728 Y336C possibly damaging Het
Prkg1 T C 19: 31,302,301 T178A probably damaging Het
Prr11 C T 11: 87,103,545 A92T possibly damaging Het
Racgap1 G T 15: 99,639,704 S67R probably damaging Het
Scn10a G A 9: 119,616,705 P1462S probably damaging Het
Sptbn1 T C 11: 30,197,747 E29G probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Vmn2r72 T A 7: 85,751,813 T133S probably benign Het
Zbtb20 A G 16: 43,609,933 H269R possibly damaging Het
Zwilch A T 9: 64,146,836 N526K probably benign 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
IGL02476:Gcc1 APN 6 28420469 missense probably benign
IGL02725:Gcc1 APN 6 28418459 missense probably benign 0.02
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 splice site probably null
R5829:Gcc1 UTSW 6 28419691 unclassified probably benign
R5993:Gcc1 UTSW 6 28424852 splice site 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
R7822:Gcc1 UTSW 6 28418786 missense probably damaging 1.00
R7981:Gcc1 UTSW 6 28419141 missense probably benign 0.44
Posted On2015-04-16