Incidental Mutation 'R8498:Gcc1'
ID 658367
Institutional Source Beutler Lab
Gene Symbol Gcc1
Ensembl Gene ENSMUSG00000029708
Gene Name golgi coiled coil 1
Synonyms 4932417P04Rik
MMRRC Submission 067940-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R8498 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 28416602-28421723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 28418029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 768 (S768I)
Ref Sequence ENSEMBL: ENSMUSP00000087997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064377] [ENSMUST00000090511] [ENSMUST00000170767]
AlphaFold Q9D4H2
Predicted Effect probably benign
Transcript: ENSMUST00000064377
AA Change: S768I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067395
Gene: ENSMUSG00000029708
AA Change: S768I

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: S768I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087997
Gene: ENSMUSG00000029708
AA Change: S768I

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: ENSMUST00000165455
SMART Domains Protein: ENSMUSP00000132415
Gene: ENSMUSG00000029708

DomainStartEndE-ValueType
coiled coil region 5 162 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170767
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (43/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G T 1: 120,096,872 (GRCm39) probably null Het
Amigo1 A G 3: 108,095,751 (GRCm39) M417V probably benign Het
Celsr1 G T 15: 85,823,306 (GRCm39) Q1701K probably benign Het
Cfhr2 G T 1: 139,741,219 (GRCm39) T252K possibly damaging Het
Cntnap4 T A 8: 113,602,211 (GRCm39) V1205E possibly damaging Het
Ctsb T C 14: 63,370,881 (GRCm39) I31T probably benign Het
Cyp4f13 G C 17: 33,143,833 (GRCm39) P497R probably damaging Het
Dna2 A G 10: 62,809,094 (GRCm39) D1062G probably benign Het
Dnah7a A C 1: 53,657,139 (GRCm39) M879R probably benign Het
Gm29106 T C 1: 118,128,218 (GRCm39) Y637H probably damaging Het
Gm4787 T C 12: 81,425,840 (GRCm39) D106G probably damaging Het
Gm527 T A 12: 64,967,782 (GRCm39) V68D probably damaging Het
Grm1 A T 10: 10,955,605 (GRCm39) Y226* probably null Het
Hkdc1 T C 10: 62,221,662 (GRCm39) R799G probably benign Het
Ier2 T C 8: 85,389,353 (GRCm39) I10V probably damaging Het
Ifi209 A G 1: 173,470,069 (GRCm39) N219S probably benign Het
Iqcn T C 8: 71,162,625 (GRCm39) I606T probably benign Het
Krt88 A G 15: 101,351,406 (GRCm39) S138G probably benign Het
Lrrc3 T C 10: 77,736,824 (GRCm39) D204G probably damaging Het
Mllt6 T C 11: 97,567,688 (GRCm39) I705T possibly damaging Het
Mpl G A 4: 118,306,207 (GRCm39) P278S probably benign Het
Nkx3-2 T C 5: 41,920,989 (GRCm39) E100G probably benign Het
Or13p8 A T 4: 118,583,822 (GRCm39) Y126F possibly damaging Het
Or56b1b A T 7: 108,164,833 (GRCm39) C56* probably null Het
Or8b12b G A 9: 37,684,560 (GRCm39) V202M probably damaging Het
Pcdh15 G A 10: 74,317,974 (GRCm39) V992I probably damaging Het
Pcdhgc5 A G 18: 37,953,487 (GRCm39) N254D probably damaging Het
Pdgfd A G 9: 6,288,655 (GRCm39) E103G probably damaging Het
Ppp2r1b C T 9: 50,778,194 (GRCm39) R304* probably null Het
Pramel30 A G 4: 144,058,233 (GRCm39) D280G probably benign Het
Prdm2 G A 4: 142,907,467 (GRCm39) A35V probably damaging Het
Psd T C 19: 46,312,788 (GRCm39) N194S probably damaging Het
Rasgef1c A T 11: 49,862,248 (GRCm39) E379V probably damaging Het
Rnf43 A T 11: 87,618,267 (GRCm39) I186F probably damaging Het
Ros1 C T 10: 52,055,047 (GRCm39) C85Y probably damaging Het
Setd2 T A 9: 110,378,989 (GRCm39) L935I probably damaging Het
Slc2a5 A G 4: 150,210,590 (GRCm39) Q46R probably benign Het
Ss18l1 A T 2: 179,699,968 (GRCm39) Q276L probably damaging Het
Tas2r129 A T 6: 132,928,815 (GRCm39) M251L probably benign Het
Thoc1 A G 18: 9,989,693 (GRCm39) E458G probably benign Het
Wdr35 T A 12: 9,058,626 (GRCm39) N594K probably damaging Het
Zzef1 T A 11: 72,744,148 (GRCm39) C835S probably damaging Het
Other mutations in Gcc1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R7981:Gcc1 UTSW 6 28,419,140 (GRCm39) missense probably benign 0.44
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'- TGCTCTGAGTTCAACACAGTG -3'
(R):5'- AGGTAGAAGCCCATCAGCTG -3'

Sequencing Primer
(F):5'- CACGGAGATTTCAGGAGTT -3'
(R):5'- CCCATCAGCTGCAGGAAAGG -3'
Posted On 2021-01-18