Incidental Mutation 'IGL02826:Cyth1'
ID361215
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyth1
Ensembl Gene ENSMUSG00000017132
Gene Namecytohesin 1
SynonymsCTH-1, Pscd1, CLM1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #IGL02826
Quality Score
Status
Chromosome11
Chromosomal Location118132019-118248592 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 118185481 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 88 (E88K)
Ref Sequence ENSEMBL: ENSMUSP00000114792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017276] [ENSMUST00000100181] [ENSMUST00000106302] [ENSMUST00000106305] [ENSMUST00000151165]
Predicted Effect possibly damaging
Transcript: ENSMUST00000017276
AA Change: E86K

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000017276
Gene: ENSMUSG00000017132
AA Change: E86K

DomainStartEndE-ValueType
Sec7 59 244 1.38e-108 SMART
PH 261 378 4.8e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000100181
AA Change: E100K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097756
Gene: ENSMUSG00000017132
AA Change: E100K

DomainStartEndE-ValueType
Sec7 73 258 1.38e-108 SMART
PH 275 392 1.65e-23 SMART
low complexity region 402 425 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106302
AA Change: E88K

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101909
Gene: ENSMUSG00000017132
AA Change: E88K

DomainStartEndE-ValueType
Sec7 61 246 1.38e-108 SMART
PH 263 381 4.18e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106305
AA Change: E86K

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101912
Gene: ENSMUSG00000017132
AA Change: E86K

DomainStartEndE-ValueType
Sec7 59 244 1.38e-108 SMART
PH 261 379 4.18e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141243
Predicted Effect possibly damaging
Transcript: ENSMUST00000151165
AA Change: E88K

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114792
Gene: ENSMUSG00000017132
AA Change: E88K

DomainStartEndE-ValueType
SCOP:d1pbv__ 55 99 4e-15 SMART
PDB:1BC9|A 60 99 9e-21 PDB
Blast:Sec7 61 99 1e-20 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157494
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 member of the PSCD family. Members of this family 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 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 gene is highly expressed in natural killer and peripheral T cells, and regulates the adhesiveness of integrins at the plasma membrane of lymphocytes. A pseudogene of this gene has been defined on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit normal brain morphology and long term potentiation. Mice homozygous for a knock-out allele exhibit decreased myelin sheath thickness due to hypomyelination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik A C 16: 90,926,062 D261E probably benign Het
1810041L15Rik A G 15: 84,420,129 probably benign Het
4930404N11Rik A G 10: 81,364,736 probably benign Het
A3galt2 T C 4: 128,761,509 probably benign Het
Alk C T 17: 71,869,536 G1591D probably damaging Het
Angptl2 T C 2: 33,228,315 S34P probably benign Het
Atp2a2 A G 5: 122,489,291 V137A probably benign Het
Atp8b5 A G 4: 43,366,770 M845V probably damaging Het
Camk1d A G 2: 5,565,760 V30A possibly damaging Het
Ceacam19 G A 7: 19,882,610 T193I probably benign Het
Chst15 T A 7: 132,266,746 D315V probably damaging Het
Cux1 G T 5: 136,308,003 P885Q probably damaging Het
Dido1 A G 2: 180,683,958 V479A probably benign Het
Dlc1 G T 8: 36,570,275 probably benign Het
H2-Ab1 G A 17: 34,264,911 R82Q probably damaging Het
Hps6 T A 19: 46,006,041 *806K probably null Het
Ilf3 T C 9: 21,398,044 S486P probably benign Het
Kdm1b C A 13: 47,080,467 T759K probably damaging Het
Kirrel C A 3: 87,088,485 V381F probably damaging Het
Kmt2b A T 7: 30,577,144 V1701E probably damaging Het
Lrmda T C 14: 22,828,737 Y100H probably damaging Het
Mastl T C 2: 23,145,409 I169V probably damaging Het
Mroh2b A G 15: 4,962,148 E1576G probably damaging Het
Nek3 A T 8: 22,160,368 probably null Het
Nipal3 G T 4: 135,468,550 Y247* probably null Het
Nt5e A C 9: 88,355,705 K229N probably damaging Het
Olfr237-ps1 A G 6: 43,153,577 I91V possibly damaging Het
Olfr974 G T 9: 39,942,958 G233C probably damaging Het
Opa1 A G 16: 29,610,887 M290V probably null Het
Parp2 T A 14: 50,815,415 I155K probably benign Het
Pde4dip G T 3: 97,767,087 A171E probably damaging Het
Prom2 C T 2: 127,531,116 E678K probably benign Het
Rab12 A G 17: 66,498,116 probably benign Het
Rgs8 A T 1: 153,670,799 T13S probably damaging Het
Setd3 A G 12: 108,112,124 probably benign Het
Slx4ip G A 2: 137,004,973 V53I probably damaging Het
Stil A G 4: 115,024,098 D613G probably benign Het
Tjp3 T A 10: 81,273,689 S858C probably damaging Het
Tmem215 A G 4: 40,474,632 *236W probably null Het
Ttbk1 A G 17: 46,470,660 V389A probably benign Het
Wdfy4 A G 14: 32,971,750 F2706S possibly damaging Het
Xpo4 C A 14: 57,629,420 V222L possibly damaging Het
Zfc3h1 A G 10: 115,400,904 S428G probably benign Het
Zfp286 T C 11: 62,787,960 Q47R probably damaging Het
Zfp318 A G 17: 46,398,754 K468E probably damaging Het
Other mutations in Cyth1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Cyth1 APN 11 118193613 critical splice donor site probably null
IGL02047:Cyth1 APN 11 118169132 missense probably damaging 1.00
IGL02658:Cyth1 APN 11 118182246 missense probably damaging 0.99
Mucilage UTSW 11 118170860 missense probably damaging 1.00
Stuck UTSW 11 118185759 critical splice donor site probably null
tarred UTSW 11 118183923 nonsense probably null
R0109:Cyth1 UTSW 11 118182306 missense probably damaging 0.98
R0109:Cyth1 UTSW 11 118182306 missense probably damaging 0.98
R0470:Cyth1 UTSW 11 118132248 unclassified probably benign
R1387:Cyth1 UTSW 11 118182346 unclassified probably benign
R1599:Cyth1 UTSW 11 118177221 missense probably damaging 0.99
R2098:Cyth1 UTSW 11 118193653 missense probably damaging 1.00
R2156:Cyth1 UTSW 11 118182808 missense probably damaging 1.00
R3546:Cyth1 UTSW 11 118192436 missense probably damaging 0.96
R4300:Cyth1 UTSW 11 118183894 missense probably damaging 0.98
R4589:Cyth1 UTSW 11 118184985 missense possibly damaging 0.70
R4799:Cyth1 UTSW 11 118183942 missense probably damaging 1.00
R5165:Cyth1 UTSW 11 118169082 missense possibly damaging 0.82
R5524:Cyth1 UTSW 11 118182767 missense probably benign 0.27
R5834:Cyth1 UTSW 11 118192463 critical splice acceptor site probably null
R5933:Cyth1 UTSW 11 118185759 critical splice donor site probably null
R5960:Cyth1 UTSW 11 118132367 unclassified probably benign
R6609:Cyth1 UTSW 11 118170860 missense probably damaging 1.00
R7014:Cyth1 UTSW 11 118212651 missense probably benign
R7108:Cyth1 UTSW 11 118182913 missense probably damaging 0.99
R7237:Cyth1 UTSW 11 118185495 missense probably damaging 1.00
R7401:Cyth1 UTSW 11 118182251 missense possibly damaging 0.94
R7424:Cyth1 UTSW 11 118184009 splice site probably null
R7523:Cyth1 UTSW 11 118183923 nonsense probably null
R7574:Cyth1 UTSW 11 118182863 missense probably damaging 1.00
R7647:Cyth1 UTSW 11 118177288 missense probably benign 0.00
R7731:Cyth1 UTSW 11 118169053 missense possibly damaging 0.55
R7848:Cyth1 UTSW 11 118183923 nonsense probably null
R7849:Cyth1 UTSW 11 118183923 nonsense probably null
R7931:Cyth1 UTSW 11 118183923 nonsense probably null
R7932:Cyth1 UTSW 11 118183923 nonsense probably null
X0063:Cyth1 UTSW 11 118132329 unclassified probably benign
Posted On2015-12-18