Incidental Mutation 'R5165:Cyth1'
ID 395663
Institutional Source Beutler Lab
Gene Symbol Cyth1
Ensembl Gene ENSMUSG00000017132
Gene Name cytohesin 1
Synonyms CLM1, Pscd1, CTH-1
MMRRC Submission 042746-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R5165 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 118054996-118139452 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118059908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 353 (N353S)
Ref Sequence ENSEMBL: ENSMUSP00000101909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017276] [ENSMUST00000100181] [ENSMUST00000106302] [ENSMUST00000106305]
AlphaFold Q9QX11
Predicted Effect probably benign
Transcript: ENSMUST00000017276
AA Change: N350S

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000017276
Gene: ENSMUSG00000017132
AA Change: N350S

DomainStartEndE-ValueType
Sec7 59 244 1.38e-108 SMART
PH 261 378 4.8e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000100181
AA Change: N364S

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097756
Gene: ENSMUSG00000017132
AA Change: N364S

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: N353S

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101909
Gene: ENSMUSG00000017132
AA Change: N353S

DomainStartEndE-ValueType
Sec7 61 246 1.38e-108 SMART
PH 263 381 4.18e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106305
AA Change: N351S

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101912
Gene: ENSMUSG00000017132
AA Change: N351S

DomainStartEndE-ValueType
Sec7 59 244 1.38e-108 SMART
PH 261 379 4.18e-25 SMART
Meta Mutation Damage Score 0.0702 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (58/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg2 T A 6: 83,503,814 (GRCm39) I77F probably benign Het
Actl6a G A 3: 32,774,357 (GRCm39) V285I probably benign Het
Adam9 A T 8: 25,457,190 (GRCm39) I646N possibly damaging Het
Ahnak T C 19: 8,993,029 (GRCm39) I4771T possibly damaging Het
Alas1 T C 9: 106,118,454 (GRCm39) T223A probably damaging Het
Apc2 A G 10: 80,151,684 (GRCm39) E2246G probably damaging Het
Atp1a1 A G 3: 101,489,105 (GRCm39) I795T probably benign Het
Ccn3 A G 15: 54,612,585 (GRCm39) D198G probably damaging Het
Cdhr4 T C 9: 107,874,829 (GRCm39) L633P probably damaging Het
Cep350 A G 1: 155,804,114 (GRCm39) S990P probably damaging Het
Cplx2 A G 13: 54,526,789 (GRCm39) I66V possibly damaging Het
Cx3cl1 T C 8: 95,506,504 (GRCm39) S170P probably benign Het
Dapp1 T C 3: 137,644,976 (GRCm39) probably null Het
Dmwd G A 7: 18,811,960 (GRCm39) probably benign Het
Dsg1c A G 18: 20,410,080 (GRCm39) H516R probably damaging Het
Efemp2 T C 19: 5,525,439 (GRCm39) C39R probably damaging Het
Fnbp4 C G 2: 90,608,001 (GRCm39) Q908E possibly damaging Het
Foxred2 A G 15: 77,840,212 (GRCm39) V26A probably damaging Het
Gkap1 A G 13: 58,411,010 (GRCm39) probably null Het
Gstcd A C 3: 132,790,440 (GRCm39) V109G probably damaging Het
Hoxc9 T A 15: 102,892,432 (GRCm39) M215K probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kcnj9 A T 1: 172,150,724 (GRCm39) D296E probably benign Het
Kctd18 T C 1: 57,998,395 (GRCm39) Y68C probably damaging Het
Kif21a A T 15: 90,840,579 (GRCm39) M1179K probably benign Het
Lrfn5 T C 12: 61,886,410 (GRCm39) I66T possibly damaging Het
Lrp12 A G 15: 39,735,857 (GRCm39) S692P probably benign Het
Lrrc10 A T 10: 116,881,965 (GRCm39) N213I probably benign Het
Nceh1 G A 3: 27,295,677 (GRCm39) V313I probably benign Het
Nkx6-3 T A 8: 23,643,759 (GRCm39) H53Q probably damaging Het
Ntmt2 A G 1: 163,550,092 (GRCm39) I53T probably benign Het
Or14j7 A G 17: 38,235,252 (GRCm39) D265G probably benign Het
Or2y16 A G 11: 49,335,203 (GRCm39) H175R probably damaging Het
Or4f53 T A 2: 111,087,568 (GRCm39) V36E possibly damaging Het
Or5b97 A T 19: 12,878,564 (GRCm39) N193K probably benign Het
Oxct1 A T 15: 4,083,251 (GRCm39) T157S possibly damaging Het
Pcdhga3 A G 18: 37,808,723 (GRCm39) E392G possibly damaging Het
Polr1a T G 6: 71,944,909 (GRCm39) Y1322D probably damaging Het
Prkdc T A 16: 15,496,136 (GRCm39) S776T probably damaging Het
Ralgapb A G 2: 158,307,832 (GRCm39) I1047V possibly damaging Het
Sertad4 A T 1: 192,529,130 (GRCm39) S229T possibly damaging Het
Shank2 T A 7: 143,963,373 (GRCm39) V327D possibly damaging Het
Skint6 A T 4: 112,722,865 (GRCm39) V904E possibly damaging Het
Slfn8 A T 11: 82,907,953 (GRCm39) Y197N probably damaging Het
Smo T A 6: 29,736,077 (GRCm39) L23Q unknown Het
Snx29 T A 16: 11,238,639 (GRCm39) M23K probably damaging Het
Synrg T C 11: 83,881,761 (GRCm39) S366P probably benign Het
Tomm40 A G 7: 19,447,592 (GRCm39) probably null Het
Tpcn1 T C 5: 120,696,010 (GRCm39) E81G probably damaging Het
Trappc1 A G 11: 69,215,060 (GRCm39) Q26R probably benign Het
Ttn T A 2: 76,606,900 (GRCm39) probably null Het
Usp25 T A 16: 76,873,293 (GRCm39) D450E possibly damaging Het
Zmynd19 T A 2: 24,848,201 (GRCm39) Y132* probably null Het
Other mutations in Cyth1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Cyth1 APN 11 118,084,439 (GRCm39) critical splice donor site probably null
IGL02047:Cyth1 APN 11 118,059,958 (GRCm39) missense probably damaging 1.00
IGL02658:Cyth1 APN 11 118,073,072 (GRCm39) missense probably damaging 0.99
IGL02826:Cyth1 APN 11 118,076,307 (GRCm39) missense possibly damaging 0.89
Mucilage UTSW 11 118,061,686 (GRCm39) missense probably damaging 1.00
Stuck UTSW 11 118,076,585 (GRCm39) critical splice donor site probably null
tarred UTSW 11 118,074,749 (GRCm39) nonsense probably null
R0109:Cyth1 UTSW 11 118,073,132 (GRCm39) missense probably damaging 0.98
R0109:Cyth1 UTSW 11 118,073,132 (GRCm39) missense probably damaging 0.98
R0470:Cyth1 UTSW 11 118,023,074 (GRCm39) unclassified probably benign
R1387:Cyth1 UTSW 11 118,073,172 (GRCm39) unclassified probably benign
R1599:Cyth1 UTSW 11 118,068,047 (GRCm39) missense probably damaging 0.99
R2098:Cyth1 UTSW 11 118,084,479 (GRCm39) missense probably damaging 1.00
R2156:Cyth1 UTSW 11 118,073,634 (GRCm39) missense probably damaging 1.00
R3546:Cyth1 UTSW 11 118,083,262 (GRCm39) missense probably damaging 0.96
R4300:Cyth1 UTSW 11 118,074,720 (GRCm39) missense probably damaging 0.98
R4589:Cyth1 UTSW 11 118,075,811 (GRCm39) missense possibly damaging 0.70
R4799:Cyth1 UTSW 11 118,074,768 (GRCm39) missense probably damaging 1.00
R5524:Cyth1 UTSW 11 118,073,593 (GRCm39) missense probably benign 0.27
R5834:Cyth1 UTSW 11 118,083,289 (GRCm39) critical splice acceptor site probably null
R5933:Cyth1 UTSW 11 118,076,585 (GRCm39) critical splice donor site probably null
R5960:Cyth1 UTSW 11 118,023,193 (GRCm39) unclassified probably benign
R6609:Cyth1 UTSW 11 118,061,686 (GRCm39) missense probably damaging 1.00
R7014:Cyth1 UTSW 11 118,103,477 (GRCm39) missense probably benign
R7108:Cyth1 UTSW 11 118,073,739 (GRCm39) missense probably damaging 0.99
R7237:Cyth1 UTSW 11 118,076,321 (GRCm39) missense probably damaging 1.00
R7401:Cyth1 UTSW 11 118,073,077 (GRCm39) missense possibly damaging 0.94
R7424:Cyth1 UTSW 11 118,074,835 (GRCm39) splice site probably null
R7523:Cyth1 UTSW 11 118,074,749 (GRCm39) nonsense probably null
R7574:Cyth1 UTSW 11 118,073,689 (GRCm39) missense probably damaging 1.00
R7647:Cyth1 UTSW 11 118,068,114 (GRCm39) missense probably benign 0.00
R7731:Cyth1 UTSW 11 118,059,879 (GRCm39) missense possibly damaging 0.55
R7848:Cyth1 UTSW 11 118,074,749 (GRCm39) nonsense probably null
R7849:Cyth1 UTSW 11 118,074,749 (GRCm39) nonsense probably null
R8755:Cyth1 UTSW 11 118,074,768 (GRCm39) missense probably benign 0.31
R8781:Cyth1 UTSW 11 118,073,069 (GRCm39) missense probably damaging 0.98
R9045:Cyth1 UTSW 11 118,073,090 (GRCm39) missense possibly damaging 0.72
R9062:Cyth1 UTSW 11 118,023,142 (GRCm39) missense unknown
R9299:Cyth1 UTSW 11 118,059,837 (GRCm39) splice site probably benign
R9393:Cyth1 UTSW 11 118,074,710 (GRCm39) missense probably benign 0.28
R9476:Cyth1 UTSW 11 118,076,206 (GRCm39) critical splice donor site probably null
R9510:Cyth1 UTSW 11 118,076,206 (GRCm39) critical splice donor site probably null
X0063:Cyth1 UTSW 11 118,023,155 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AGGAATCCAAAGGCCTGCTG -3'
(R):5'- GAAAGTGCTCTCTGACACATCTC -3'

Sequencing Primer
(F):5'- TCCAAAGGCCTGCTGGGAAG -3'
(R):5'- TCTCTCGAGAGTAAAGACAAAGAGTC -3'
Posted On 2016-06-21