Incidental Mutation 'IGL00915:Gorab'
ID26628
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: 0.258) question?
Stock #IGL00915
Quality Score
Status
Chromosome1
Chromosomal Location163384908-163403669 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 163396857 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 125 (R125Q)
Ref Sequence ENSEMBL: ENSMUSP00000140320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045138] [ENSMUST00000186402]
Predicted Effect probably benign
Transcript: ENSMUST00000045138
AA Change: R125Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000036253
Gene: ENSMUSG00000040124
AA Change: R125Q

DomainStartEndE-ValueType
Pfam:Transcrip_act 128 276 9.3e-11 PFAM
low complexity region 277 301 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185299
Predicted Effect probably benign
Transcript: ENSMUST00000186402
AA Change: R125Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,374,246 Y206N probably damaging Het
Aebp2 A G 6: 140,642,254 N350S probably benign Het
Cerkl A G 2: 79,341,499 S367P probably benign Het
Ddx60 T G 8: 61,987,431 V1039G possibly damaging Het
Fstl4 A T 11: 53,176,998 M563L probably benign Het
Fzd9 C T 5: 135,249,469 V521M probably damaging Het
Macc1 G A 12: 119,447,014 D506N probably benign Het
Mettl17 C A 14: 51,887,289 F119L probably benign Het
Nbas C A 12: 13,374,752 C997* probably null Het
Neil1 A G 9: 57,143,977 probably null Het
Olfr458 A G 6: 42,460,950 I23T probably benign Het
Prune2 A G 19: 17,016,253 E185G probably damaging Het
Ralgapa2 A G 2: 146,342,522 S1522P probably damaging Het
Scd1 A G 19: 44,400,357 L218P possibly damaging Het
Setdb1 A T 3: 95,346,788 F234L probably damaging Het
Sos1 A G 17: 80,433,938 S473P probably benign Het
Spata31d1a T C 13: 59,702,185 S710G probably benign Het
Srp72 C A 5: 76,978,613 C87* probably null Het
Tas2r126 T A 6: 42,435,349 I272K possibly damaging Het
Trim38 A T 13: 23,791,032 Y318F possibly damaging Het
Trnt1 A G 6: 106,779,426 K433E probably benign Het
Umodl1 A G 17: 31,008,750 probably benign Het
Urb1 A G 16: 90,779,098 F857L possibly damaging Het
Vps45 A G 3: 96,046,350 probably null Het
Zfhx4 A T 3: 5,245,523 I989F probably damaging Het
Other mutations in Gorab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Gorab APN 1 163394687 missense probably damaging 1.00
IGL01645:Gorab APN 1 163386431 missense possibly damaging 0.46
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
R7707:Gorab UTSW 1 163392440 missense probably damaging 1.00
Z1088:Gorab UTSW 1 163386323 missense possibly damaging 0.56
Z1088:Gorab UTSW 1 163403550 nonsense probably null
Posted On2013-04-17