Incidental Mutation 'IGL03065:Gcc1'
ID 409647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcc1
Ensembl Gene ENSMUSG00000029708
Gene Name golgi coiled coil 1
Synonyms 4932417P04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # IGL03065
Quality Score
Status
Chromosome 6
Chromosomal Location 28416602-28421723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28418401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 644 (Q644L)
Ref Sequence ENSEMBL: ENSMUSP00000087997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064377] [ENSMUST00000090511] [ENSMUST00000170767]
AlphaFold Q9D4H2
Predicted Effect possibly damaging
Transcript: ENSMUST00000064377
AA Change: Q644L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000067395
Gene: ENSMUSG00000029708
AA Change: Q644L

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 possibly damaging
Transcript: ENSMUST00000090511
AA Change: Q644L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000087997
Gene: ENSMUSG00000029708
AA Change: Q644L

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
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A G 8: 84,665,143 (GRCm39) M1322V possibly damaging Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Afg2a T C 3: 37,486,328 (GRCm39) V350A possibly damaging Het
Als2 T C 1: 59,255,031 (GRCm39) S109G probably benign Het
Bpifa1 T A 2: 153,989,562 (GRCm39) N250K probably damaging Het
Capn9 A C 8: 125,332,298 (GRCm39) Y423S probably damaging Het
Cd200r1 T G 16: 44,614,645 (GRCm39) V308G probably benign Het
Cic T C 7: 24,985,246 (GRCm39) probably benign Het
Col5a1 T A 2: 27,922,757 (GRCm39) I275N possibly damaging Het
Col6a4 C A 9: 105,918,363 (GRCm39) probably benign Het
Cpeb1 T C 7: 81,086,038 (GRCm39) R35G probably benign Het
Cul1 A G 6: 47,472,015 (GRCm39) Y52C probably damaging Het
Dctn1 T C 6: 83,169,475 (GRCm39) F496L probably damaging Het
Dock11 G T X: 35,310,699 (GRCm39) probably benign Het
Eaf2 C T 16: 36,648,484 (GRCm39) R12H probably benign Het
Gm44865 C T 7: 108,165,004 (GRCm39) probably benign Het
Golgb1 C T 16: 36,733,228 (GRCm39) S825L probably benign Het
Gstp3 C T 19: 4,108,730 (GRCm39) probably null Het
Heph T A X: 95,571,173 (GRCm39) I669N probably benign Het
Il12rb1 A T 8: 71,273,202 (GRCm39) Y635F possibly damaging Het
Ing3 G A 6: 21,971,221 (GRCm39) A331T probably benign Het
Ipo8 T A 6: 148,686,205 (GRCm39) I762F probably benign Het
Itpr3 G A 17: 27,310,907 (GRCm39) R510Q probably damaging Het
Kif16b A G 2: 142,461,833 (GRCm39) Y1273H probably damaging Het
Map3k14 T C 11: 103,115,927 (GRCm39) E784G probably damaging Het
Mpdz A T 4: 81,210,802 (GRCm39) N1694K probably damaging Het
Myh13 T C 11: 67,235,679 (GRCm39) F648S probably damaging Het
Myh4 A G 11: 67,149,982 (GRCm39) H1847R probably benign Het
Ncoa7 T A 10: 30,523,993 (GRCm39) D840V probably damaging Het
Nxpe2 T A 9: 48,230,992 (GRCm39) N459I possibly damaging Het
Or4d10c C A 19: 12,065,975 (GRCm39) L60F possibly damaging Het
Or4k2 C A 14: 50,424,465 (GRCm39) D70Y probably damaging Het
Or4k47 T C 2: 111,451,535 (GRCm39) K295E probably damaging Het
Ovgp1 T C 3: 105,893,682 (GRCm39) F485S probably benign Het
Parp4 G T 14: 56,875,326 (GRCm39) A1182S probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pla2g15 G A 8: 106,886,851 (GRCm39) R114H probably benign Het
Plppr3 T A 10: 79,701,880 (GRCm39) T321S probably benign Het
Rnf113a1 A G X: 36,455,748 (GRCm39) D235G probably benign Het
Rsrp1 A G 4: 134,651,700 (GRCm39) T155A possibly damaging Het
Simc1 G T 13: 54,685,025 (GRCm39) C87F probably damaging Het
Slco1a5 A G 6: 142,194,569 (GRCm39) probably benign Het
Slco1a8 C A 6: 141,938,228 (GRCm39) L230F probably damaging Het
Smyd5 A G 6: 85,419,146 (GRCm39) D276G possibly damaging Het
Tmem132c A G 5: 127,640,688 (GRCm39) Y953C probably damaging Het
Trank1 T A 9: 111,219,361 (GRCm39) S2033T possibly damaging Het
Trim69 A G 2: 122,009,115 (GRCm39) T392A probably damaging Het
Tsks T C 7: 44,592,724 (GRCm39) V6A probably damaging Het
Yjefn3 A G 8: 70,342,206 (GRCm39) probably benign Het
Zfp263 T G 16: 3,564,344 (GRCm39) D211E probably benign Het
Zfp994 A T 17: 22,421,661 (GRCm39) F51L probably damaging Het
Znfx1 A T 2: 166,897,685 (GRCm39) M413K probably benign 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
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
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
Posted On 2016-08-02