Incidental Mutation 'IGL01645:Gorab'
ID102614
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gorab
Ensembl Gene ENSMUSG00000040124
Gene Namegolgin, RAB6-interacting
SynonymsNTKL-BP1, Scyl1bp1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.271) question?
Stock #IGL01645
Quality Score
Status
Chromosome1
Chromosomal Location163384908-163403669 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 163386431 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 310 (L310Q)
Ref Sequence ENSEMBL: ENSMUSP00000036253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045138] [ENSMUST00000186402]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045138
AA Change: L310Q

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036253
Gene: ENSMUSG00000040124
AA Change: L310Q

DomainStartEndE-ValueType
Pfam:Transcrip_act 128 276 9.3e-11 PFAM
low complexity region 277 301 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186402
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null gene trap allele exhibit hunched posture, craniofacial abnormalities, neonatal lethality, respiratory distress, skin edema, decreased hair follicles, fewer dermal condensates and papillae, and impaired formation of primary cilia on dermal condensate cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik T C 14: 49,773,554 E232G probably damaging Het
Abcc8 C T 7: 46,115,053 C1156Y possibly damaging Het
Armc4 T C 18: 7,268,491 S343G probably benign Het
Atp8b1 G A 18: 64,546,113 H766Y probably benign Het
BC030867 T C 11: 102,255,186 L96P probably damaging Het
Cacna2d1 C A 5: 16,012,391 probably null Het
Card11 T A 5: 140,878,023 T987S probably benign Het
Dmxl2 A T 9: 54,378,733 Y2723N possibly damaging Het
Dnah11 T A 12: 118,186,998 I342F possibly damaging Het
Dnajc10 A G 2: 80,340,527 H454R possibly damaging Het
Dpy19l3 T C 7: 35,695,338 T592A probably benign Het
Eea1 T A 10: 95,989,589 S49T probably damaging Het
Esd T A 14: 74,749,719 N294K probably benign Het
Fmo3 A G 1: 162,964,006 V234A possibly damaging Het
Folh1 A G 7: 86,742,227 F420L probably damaging Het
Gabra1 T C 11: 42,135,562 N301S probably damaging Het
Gm5422 A T 10: 31,250,073 noncoding transcript Het
Gsdme A G 6: 50,251,336 Y51H probably damaging Het
Itpr1 T C 6: 108,473,599 I1964T possibly damaging Het
Lmbr1 A G 5: 29,235,055 L410P probably damaging Het
Lrrc37a T C 11: 103,504,264 R112G probably benign Het
Mrgpra6 T C 7: 47,185,933 T247A probably benign Het
Mroh4 A G 15: 74,611,358 probably benign Het
Mycbpap T C 11: 94,503,467 probably null Het
Myoz2 T A 3: 123,034,232 K12N probably damaging Het
Olfr412 T C 11: 74,365,533 I288T possibly damaging Het
P3h1 T G 4: 119,236,783 F212V probably damaging Het
Pcnx2 T C 8: 125,887,917 D265G probably damaging Het
Pkd1l3 C T 8: 109,635,302 T992I possibly damaging Het
Prss58 T C 6: 40,897,310 D144G probably damaging Het
Pth2 T A 7: 45,181,340 L29Q possibly damaging Het
Rab1b A C 19: 5,104,934 probably benign Het
Rasa2 A T 9: 96,582,781 C190* probably null Het
Scn9a T C 2: 66,487,642 K1501E possibly damaging Het
Selenoi A G 5: 30,257,823 probably benign Het
Slc11a2 T C 15: 100,389,118 N558S probably benign Het
Sox10 T C 15: 79,156,339 I173V probably benign Het
Sra1 A C 18: 36,671,473 F476C probably damaging Het
St5 T A 7: 109,527,634 K540* probably null Het
Tmem119 T A 5: 113,795,348 K131* probably null Het
Trim12c T A 7: 104,345,054 K198* probably null Het
Ttn A G 2: 76,851,560 probably benign Het
Unc119b C T 5: 115,127,312 V154I probably benign Het
Usp47 T A 7: 112,054,862 S108R probably damaging Het
Vmn1r15 T A 6: 57,258,562 C138* probably null Het
Vmn1r191 T C 13: 22,179,444 I47V probably benign Het
Wnt3 C T 11: 103,812,378 A229V probably benign Het
Other mutations in Gorab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Gorab APN 1 163394687 missense probably damaging 1.00
IGL00915:Gorab APN 1 163396857 missense probably benign 0.00
R0387:Gorab UTSW 1 163396834 missense probably benign 0.20
R0504:Gorab UTSW 1 163386605 missense probably damaging 1.00
R0612:Gorab UTSW 1 163397169 missense possibly damaging 0.93
R1863:Gorab UTSW 1 163403562 missense probably damaging 1.00
R1991:Gorab UTSW 1 163397056 missense probably damaging 0.99
R1992:Gorab UTSW 1 163397056 missense probably damaging 0.99
R2844:Gorab UTSW 1 163396806 splice site probably null
R4039:Gorab UTSW 1 163397066 missense possibly damaging 0.65
R4527:Gorab UTSW 1 163397136 missense possibly damaging 0.94
R4864:Gorab UTSW 1 163386398 missense probably benign
R5175:Gorab UTSW 1 163386645 missense probably damaging 1.00
R5470:Gorab UTSW 1 163392509 missense probably damaging 1.00
R5485:Gorab UTSW 1 163386302 missense possibly damaging 0.55
R6265:Gorab UTSW 1 163386630 missense possibly damaging 0.54
R6314:Gorab UTSW 1 163397089 missense probably damaging 1.00
R6355:Gorab UTSW 1 163386569 missense probably damaging 1.00
Z1088:Gorab UTSW 1 163386323 missense possibly damaging 0.56
Z1088:Gorab UTSW 1 163403550 nonsense probably null
Posted On2014-01-21