Incidental Mutation 'IGL02092:Cyth3'
ID279472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyth3
Ensembl Gene ENSMUSG00000018001
Gene Namecytohesin 3
SynonymsGrp1, Pscd3, cytohesin 3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.341) question?
Stock #IGL02092
Quality Score
Status
Chromosome5
Chromosomal Location143622447-143710250 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 143707385 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053287] [ENSMUST00000110727] [ENSMUST00000116456]
PDB Structure
GRP1 PH DOMAIN WITH INS(1,3,4,5)P4 [X-RAY DIFFRACTION]
GRP1 PH DOMAIN (UNLIGANDED) [X-RAY DIFFRACTION]
Structure of the pleckstrin homology domain from GRP1 in complex with inositol(1,3,4,5,6)pentakisphosphate [X-RAY DIFFRACTION]
Structure of the pleckstrin homology domain from GRP1 in complex with inositol 1,3,4,5-tetrakisphosphate [X-RAY DIFFRACTION]
Triglycine variant of the Grp1 Pleckstrin Homology Domain unliganded [X-RAY DIFFRACTION]
Crystal Structure of Autoinhibited Form of Grp1 Arf GTPase Exchange Factor [X-RAY DIFFRACTION]
Crystal Structure of Autoinhibited Form of Grp1 Arf GTPase Exchange Factor [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000053287
SMART Domains Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306

DomainStartEndE-ValueType
low complexity region 65 77 N/A INTRINSIC
Pfam:UCH 109 408 1.4e-46 PFAM
Pfam:UCH_1 110 391 1.4e-18 PFAM
low complexity region 470 490 N/A INTRINSIC
low complexity region 567 579 N/A INTRINSIC
low complexity region 604 613 N/A INTRINSIC
low complexity region 634 645 N/A INTRINSIC
low complexity region 954 962 N/A INTRINSIC
low complexity region 1016 1031 N/A INTRINSIC
low complexity region 1201 1219 N/A INTRINSIC
low complexity region 1239 1255 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110727
SMART Domains Protein: ENSMUSP00000106355
Gene: ENSMUSG00000018001

DomainStartEndE-ValueType
Sec7 15 200 1.5e-106 SMART
PH 217 334 1.1e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116456
SMART Domains Protein: ENSMUSP00000112157
Gene: ENSMUSG00000018001

DomainStartEndE-ValueType
low complexity region 3 10 N/A INTRINSIC
low complexity region 14 35 N/A INTRINSIC
Sec7 63 248 3.21e-104 SMART
PH 265 382 2.36e-24 SMART
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 PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010H22Rik T A 5: 98,566,768 probably benign Het
Birc7 A T 2: 180,933,186 R238S probably benign Het
Cdc42bpg C A 19: 6,316,826 probably benign Het
Ces3a T C 8: 105,050,330 probably benign Het
Cntnap2 T C 6: 46,234,203 F517S probably damaging Het
Cracr2b A G 7: 141,464,956 E201G probably damaging Het
Exoc2 A T 13: 30,875,277 N611K probably benign Het
Fign A T 2: 63,980,583 N114K possibly damaging Het
Gabrb3 A G 7: 57,765,586 T135A probably damaging Het
Htra3 T C 5: 35,671,072 K155E probably damaging Het
Inpp5f T C 7: 128,685,224 L609S probably damaging Het
Kcp C A 6: 29,489,032 probably null Het
Map4k4 A G 1: 39,986,783 K311R probably benign Het
Map4k4 A G 1: 40,024,348 K1228E probably damaging Het
Muc20 G A 16: 32,794,272 S245F probably damaging Het
Olfr1329 A G 4: 118,916,990 L159S possibly damaging Het
Olfr853 T A 9: 19,537,750 Y60F probably damaging Het
Olfr883 T G 9: 38,026,621 S272A possibly damaging Het
Pi4ka A G 16: 17,318,496 M892T probably benign Het
Ptpn22 A G 3: 103,877,321 T234A probably damaging Het
Sema4g G A 19: 44,992,639 probably null Het
Slc35a3 A G 3: 116,681,132 S204P probably damaging Het
Speer4f2 C T 5: 17,376,629 Q190* probably null Het
Szt2 A G 4: 118,363,332 probably benign Het
Tacr1 T C 6: 82,403,919 Y104H probably damaging Het
Trim23 A G 13: 104,187,612 E173G probably benign Het
Trpm6 T C 19: 18,772,331 I8T possibly damaging Het
Trpv1 T A 11: 73,246,079 probably benign Het
Ufsp2 T C 8: 45,995,664 probably null Het
Wwc2 T C 8: 47,864,535 D669G unknown Het
Zfp940 T C 7: 29,846,201 T94A probably benign Het
Zfp947 T G 17: 22,147,496 D17A probably damaging Het
Other mutations in Cyth3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Cyth3 APN 5 143707165 splice site probably null
IGL01340:Cyth3 APN 5 143684435 nonsense probably null
IGL01372:Cyth3 APN 5 143692638 missense possibly damaging 0.93
IGL02850:Cyth3 APN 5 143686504 missense probably damaging 0.97
IGL02892:Cyth3 APN 5 143707437 missense possibly damaging 0.86
R0373:Cyth3 UTSW 5 143684426 utr 5 prime probably benign
R0726:Cyth3 UTSW 5 143692642 missense probably benign 0.00
R1217:Cyth3 UTSW 5 143702820 missense probably damaging 1.00
R1552:Cyth3 UTSW 5 143697750 missense probably benign 0.12
R1623:Cyth3 UTSW 5 143701372 missense probably damaging 1.00
R1873:Cyth3 UTSW 5 143697761 missense possibly damaging 0.54
R3788:Cyth3 UTSW 5 143636543 intron probably benign
R4736:Cyth3 UTSW 5 143684479 critical splice donor site probably null
R6500:Cyth3 UTSW 5 143707840 missense probably damaging 0.97
R6824:Cyth3 UTSW 5 143686510 missense probably damaging 1.00
R7105:Cyth3 UTSW 5 143707272 missense probably benign 0.07
R7143:Cyth3 UTSW 5 143684396 missense unknown
Posted On2015-04-16