Incidental Mutation 'IGL02850:Cyth3'
ID 361816
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyth3
Ensembl Gene ENSMUSG00000018001
Gene Name cytohesin 3
Synonyms Pscd3, Grp1, cytohesin 3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # IGL02850
Quality Score
Status
Chromosome 5
Chromosomal Location 143608202-143696005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 143672259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 58 (T58K)
Ref Sequence ENSEMBL: ENSMUSP00000135287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110727] [ENSMUST00000116456] [ENSMUST00000131436] [ENSMUST00000177196] [ENSMUST00000177281]
AlphaFold O08967
Predicted Effect probably benign
Transcript: ENSMUST00000110727
AA Change: T2K

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000106355
Gene: ENSMUSG00000018001
AA Change: T2K

DomainStartEndE-ValueType
Sec7 15 200 1.5e-106 SMART
PH 217 334 1.1e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116456
AA Change: T50K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112157
Gene: ENSMUSG00000018001
AA Change: T50K

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
Predicted Effect probably benign
Transcript: ENSMUST00000131436
AA Change: T2K

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000118290
Gene: ENSMUSG00000018001
AA Change: T2K

DomainStartEndE-ValueType
Pfam:Sec7 13 70 5.9e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000177196
AA Change: T2K
Predicted Effect probably damaging
Transcript: ENSMUST00000177281
AA Change: T58K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135287
Gene: ENSMUSG00000018001
AA Change: T58K

DomainStartEndE-ValueType
low complexity region 22 43 N/A INTRINSIC
Blast:Sec7 45 91 1e-11 BLAST
PDB:1S9D|E 63 93 4e-8 PDB
SCOP:d1pbv__ 65 93 7e-8 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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,843,993 (GRCm39) Y229C probably damaging Het
Adgrd1 A G 5: 129,192,119 (GRCm39) D63G probably damaging Het
Ahnak A G 19: 8,979,960 (GRCm39) T415A probably benign Het
Antxr2 A G 5: 98,151,937 (GRCm39) V178A probably damaging Het
Ap1s1 A G 5: 137,070,634 (GRCm39) Y127H possibly damaging Het
Bbs2 A T 8: 94,803,710 (GRCm39) M510K probably benign Het
Cbfa2t2 A G 2: 154,377,090 (GRCm39) N591S probably damaging Het
Chd6 T A 2: 160,861,536 (GRCm39) R504* probably null Het
Cnpy3 A G 17: 47,054,217 (GRCm39) probably benign Het
Cntn2 T G 1: 132,446,114 (GRCm39) K824T probably benign Het
Cntnap3 T C 13: 64,905,223 (GRCm39) T853A probably damaging Het
Cog4 G A 8: 111,593,221 (GRCm39) G444D possibly damaging Het
Col18a1 A T 10: 76,932,300 (GRCm39) I510N probably damaging Het
Cxcr5 G A 9: 44,425,403 (GRCm39) R85W probably damaging Het
Dio3 T C 12: 110,245,970 (GRCm39) V102A probably damaging Het
Dmbx1 G A 4: 115,775,204 (GRCm39) R359C probably damaging Het
Fam3d C T 14: 8,361,475 (GRCm38) probably null Het
Fras1 C A 5: 96,926,034 (GRCm39) P3746Q probably damaging Het
Glt1d1 T A 5: 127,721,409 (GRCm39) M32K probably benign Het
Hunk A G 16: 90,229,460 (GRCm39) N31S probably damaging Het
Ints11 T C 4: 155,959,761 (GRCm39) S123P probably benign Het
Izumo2 T C 7: 44,358,339 (GRCm39) L58S probably damaging Het
Izumo4 A G 10: 80,540,032 (GRCm39) probably benign Het
Kcnh7 T A 2: 62,618,029 (GRCm39) K487* probably null Het
Lrp12 T C 15: 39,741,971 (GRCm39) Y248C probably damaging Het
Maco1 T C 4: 134,555,697 (GRCm39) K259E probably benign Het
Map3k4 T C 17: 12,490,801 (GRCm39) D210G probably damaging Het
Mast4 T C 13: 102,890,740 (GRCm39) D1038G probably damaging Het
Noa1 T C 5: 77,442,338 (GRCm39) T651A probably benign Het
Nop2 A C 6: 125,121,048 (GRCm39) K610T possibly damaging Het
Nop2 G T 6: 125,121,033 (GRCm39) G605V probably benign Het
Npvf G A 6: 50,629,670 (GRCm39) R107W probably benign Het
Or10ad1b A G 15: 98,125,232 (GRCm39) V98A probably benign Het
Or2h2c T C 17: 37,422,865 (GRCm39) N3S probably benign Het
Oxr1 A G 15: 41,718,329 (GRCm39) T775A probably damaging Het
P2ry13 C T 3: 59,117,029 (GRCm39) A250T probably damaging Het
Pcsk9 A T 4: 106,316,062 (GRCm39) V127E probably damaging Het
Piezo2 G A 18: 63,153,704 (GRCm39) S2547F probably benign Het
Pinx1 A G 14: 64,156,609 (GRCm39) T179A probably damaging Het
Pjvk T C 2: 76,488,795 (GRCm39) V322A possibly damaging Het
Pla2r1 T A 2: 60,332,413 (GRCm39) R476S probably benign Het
Polb A G 8: 23,138,277 (GRCm39) probably benign Het
Polg2 C T 11: 106,659,293 (GRCm39) D407N probably damaging Het
Pou5f2 G A 13: 78,173,178 (GRCm39) R40Q probably benign Het
Sctr T C 1: 119,972,393 (GRCm39) M193T possibly damaging Het
Sctr T A 1: 119,949,909 (GRCm39) C33S probably damaging Het
Sema5b T C 16: 35,480,885 (GRCm39) S819P probably benign Het
Setd1b C T 5: 123,286,652 (GRCm39) T566I unknown Het
Sptbn4 G A 7: 27,126,258 (GRCm39) R222C possibly damaging Het
Taf5l A G 8: 124,730,197 (GRCm39) V129A possibly damaging Het
Tmem163 C T 1: 127,427,984 (GRCm39) V201I probably benign Het
Ube3b T C 5: 114,544,310 (GRCm39) L569P probably damaging Het
Vwa3a A G 7: 120,372,515 (GRCm39) E301G probably benign Het
Wnk1 T C 6: 119,914,823 (GRCm39) I1660V probably benign Het
Zbtb22 T A 17: 34,135,987 (GRCm39) L44Q probably damaging Het
Zfp691 T C 4: 119,027,389 (GRCm39) D281G probably damaging Het
Zfy2 C T Y: 2,106,894 (GRCm39) G580D probably benign Het
Zfy2 T A Y: 2,117,188 (GRCm39) H213L probably benign Het
Other mutations in Cyth3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Cyth3 APN 5 143,692,920 (GRCm39) splice site probably null
IGL01340:Cyth3 APN 5 143,670,190 (GRCm39) nonsense probably null
IGL01372:Cyth3 APN 5 143,678,393 (GRCm39) missense possibly damaging 0.93
IGL02092:Cyth3 APN 5 143,693,140 (GRCm39) splice site probably benign
IGL02892:Cyth3 APN 5 143,693,192 (GRCm39) missense possibly damaging 0.86
R0373:Cyth3 UTSW 5 143,670,181 (GRCm39) utr 5 prime probably benign
R0726:Cyth3 UTSW 5 143,678,397 (GRCm39) missense probably benign 0.00
R1217:Cyth3 UTSW 5 143,688,575 (GRCm39) missense probably damaging 1.00
R1552:Cyth3 UTSW 5 143,683,505 (GRCm39) missense probably benign 0.12
R1623:Cyth3 UTSW 5 143,687,127 (GRCm39) missense probably damaging 1.00
R1873:Cyth3 UTSW 5 143,683,516 (GRCm39) missense possibly damaging 0.54
R3788:Cyth3 UTSW 5 143,622,298 (GRCm39) intron probably benign
R4736:Cyth3 UTSW 5 143,670,234 (GRCm39) critical splice donor site probably null
R6500:Cyth3 UTSW 5 143,693,595 (GRCm39) missense probably damaging 0.97
R6824:Cyth3 UTSW 5 143,672,265 (GRCm39) missense probably damaging 1.00
R7105:Cyth3 UTSW 5 143,693,027 (GRCm39) missense probably benign 0.07
R7143:Cyth3 UTSW 5 143,670,151 (GRCm39) missense unknown
R7767:Cyth3 UTSW 5 143,693,229 (GRCm39) missense probably damaging 1.00
R7839:Cyth3 UTSW 5 143,683,509 (GRCm39) missense probably benign 0.01
R8220:Cyth3 UTSW 5 143,687,344 (GRCm39) splice site probably null
R8497:Cyth3 UTSW 5 143,678,328 (GRCm39) missense probably benign 0.02
Posted On 2015-12-18