Incidental Mutation 'R2156:Cyth1'
ID 234846
Institutional Source Beutler Lab
Gene Symbol Cyth1
Ensembl Gene ENSMUSG00000017132
Gene Name cytohesin 1
Synonyms CLM1, Pscd1, CTH-1
MMRRC Submission 040159-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R2156 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 118054996-118139452 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118073634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 233 (R233Q)
Ref Sequence ENSEMBL: ENSMUSP00000097756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017276] [ENSMUST00000100181] [ENSMUST00000106302] [ENSMUST00000106305] [ENSMUST00000151165]
AlphaFold Q9QX11
Predicted Effect probably damaging
Transcript: ENSMUST00000017276
AA Change: R219Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000017276
Gene: ENSMUSG00000017132
AA Change: R219Q

DomainStartEndE-ValueType
Sec7 59 244 1.38e-108 SMART
PH 261 378 4.8e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100181
AA Change: R233Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097756
Gene: ENSMUSG00000017132
AA Change: R233Q

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 probably damaging
Transcript: ENSMUST00000106302
AA Change: R221Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101909
Gene: ENSMUSG00000017132
AA Change: R221Q

DomainStartEndE-ValueType
Sec7 61 246 1.38e-108 SMART
PH 263 381 4.18e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106305
AA Change: R219Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101912
Gene: ENSMUSG00000017132
AA Change: R219Q

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 noncoding transcript
Transcript: ENSMUST00000157494
Predicted Effect probably benign
Transcript: ENSMUST00000151165
SMART Domains Protein: ENSMUSP00000114792
Gene: ENSMUSG00000017132

DomainStartEndE-ValueType
SCOP:d1pbv__ 55 99 4e-15 SMART
PDB:1BC9|A 60 99 9e-21 PDB
Blast:Sec7 61 99 1e-20 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T A 11: 58,313,134 (GRCm39) probably null Het
Acaa2 T C 18: 74,926,476 (GRCm39) probably null Het
Adam7 T C 14: 68,748,792 (GRCm39) Q485R probably benign Het
Adcy4 T G 14: 56,006,627 (GRCm39) T1069P probably benign Het
Arsj T C 3: 126,232,337 (GRCm39) L361P probably damaging Het
Birc2 A C 9: 7,826,939 (GRCm39) L349R probably damaging Het
C1qa T C 4: 136,623,727 (GRCm39) Y159C probably damaging Het
Cdh13 A G 8: 119,963,703 (GRCm39) K428E probably damaging Het
Cenpe T C 3: 134,953,235 (GRCm39) M1563T probably benign Het
Col10a1 T C 10: 34,271,696 (GRCm39) V556A probably benign Het
Creg2 G A 1: 39,662,338 (GRCm39) L265F probably damaging Het
Cyp1a2 T A 9: 57,589,433 (GRCm39) D127V probably damaging Het
Cyp3a44 A T 5: 145,740,480 (GRCm39) Y53* probably null Het
Dnmbp G A 19: 43,890,346 (GRCm39) H474Y possibly damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Ercc2 G A 7: 19,120,717 (GRCm39) R206H possibly damaging Het
Evx2 T A 2: 74,486,360 (GRCm39) H343L probably damaging Het
Fcrl2 T A 3: 87,164,648 (GRCm39) I293F probably benign Het
Gcnt4 A G 13: 97,082,974 (GRCm39) E90G probably damaging Het
Gid8 T G 2: 180,358,751 (GRCm39) C139G probably benign Het
Gm11938 C A 11: 99,493,933 (GRCm39) C54F probably damaging Het
Gm3336 G A 8: 71,174,509 (GRCm39) V158I probably benign Het
Gucy1b1 T C 3: 81,968,327 (GRCm39) N60D probably benign Het
Hdac7 T C 15: 97,691,944 (GRCm39) K810E probably benign Het
Hsp90ab1 A G 17: 45,880,629 (GRCm39) F361L possibly damaging Het
Igf2bp3 A T 6: 49,085,858 (GRCm39) probably null Het
Inpp4b T A 8: 82,775,118 (GRCm39) I772N probably damaging Het
Iqca1 A G 1: 90,017,238 (GRCm39) L390P possibly damaging Het
Itgb2 C T 10: 77,396,082 (GRCm39) R586W probably benign Het
Itih1 A G 14: 30,655,432 (GRCm39) S588P possibly damaging Het
Iyd T A 10: 3,497,166 (GRCm39) probably null Het
Kl A G 5: 150,912,425 (GRCm39) K725E probably benign Het
Layn T A 9: 50,968,697 (GRCm39) M349L probably benign Het
Map3k5 T C 10: 19,900,683 (GRCm39) Y286H probably damaging Het
Med4 C T 14: 73,755,472 (GRCm39) probably benign Het
Mfn1 T A 3: 32,588,400 (GRCm39) N42K possibly damaging Het
Mindy2 T C 9: 70,563,874 (GRCm39) D152G probably benign Het
Mrc2 A G 11: 105,238,682 (GRCm39) probably null Het
Mrpl11 C A 19: 5,012,497 (GRCm39) A26E probably damaging Het
Msh6 G A 17: 88,293,568 (GRCm39) W774* probably null Het
Mtch1 A T 17: 29,561,841 (GRCm39) V121E probably damaging Het
Mtg2 G T 2: 179,725,923 (GRCm39) E178* probably null Het
Nbas A T 12: 13,491,510 (GRCm39) N1461Y probably damaging Het
Ndfip2 A G 14: 105,525,204 (GRCm39) T65A probably benign Het
Ninl G T 2: 150,786,503 (GRCm39) Q1146K probably damaging Het
Notch1 T C 2: 26,350,873 (GRCm39) D2089G possibly damaging Het
Notch3 C T 17: 32,366,818 (GRCm39) V906M probably damaging Het
Or51l14 A G 7: 103,101,371 (GRCm39) I276V probably benign Het
Or6b6 A G 7: 106,570,775 (GRCm39) Y259H probably damaging Het
Osmr A T 15: 6,873,891 (GRCm39) Y169N probably benign Het
Ovgp1 T C 3: 105,885,033 (GRCm39) V124A possibly damaging Het
P2rx1 T C 11: 72,904,939 (GRCm39) M369T probably benign Het
Pde4dip T C 3: 97,631,534 (GRCm39) Q1125R probably damaging Het
Podn A T 4: 107,878,892 (GRCm39) V180E probably damaging Het
Pold1 A T 7: 44,188,542 (GRCm39) V475E probably damaging Het
Polg A G 7: 79,111,468 (GRCm39) I261T possibly damaging Het
Satb1 G T 17: 52,047,438 (GRCm39) Q595K probably benign Het
Scaf8 T A 17: 3,214,407 (GRCm39) probably null Het
Semp2l1 T A 1: 32,585,128 (GRCm39) M261L probably benign Het
Serpinb3a C T 1: 106,975,202 (GRCm39) probably null Het
Slc22a26 T C 19: 7,779,480 (GRCm39) D112G probably damaging Het
Slc25a23 A G 17: 57,352,562 (GRCm39) F441L probably benign Het
Slc25a53 T C X: 135,884,216 (GRCm39) T42A probably damaging Het
Slc6a15 T C 10: 103,229,269 (GRCm39) Y103H probably damaging Het
Slx4 A G 16: 3,804,223 (GRCm39) S864P probably benign Het
Snap91 T C 9: 86,707,130 (GRCm39) E220G probably damaging Het
Spam1 T C 6: 24,796,267 (GRCm39) F73L probably damaging Het
Sphkap C T 1: 83,255,710 (GRCm39) V393M probably benign Het
Spred2 T C 11: 19,971,241 (GRCm39) Y370H probably damaging Het
Sqle T C 15: 59,195,578 (GRCm39) probably null Het
Srrm2 A G 17: 24,037,237 (GRCm39) T1390A probably benign Het
Tas1r2 A G 4: 139,396,352 (GRCm39) R564G possibly damaging Het
Tbl2 G T 5: 135,185,374 (GRCm39) probably null Het
Tcof1 T C 18: 60,964,901 (GRCm39) D606G possibly damaging Het
Tdpoz3 T A 3: 93,734,087 (GRCm39) L254H probably damaging Het
Trpm1 A T 7: 63,884,736 (GRCm39) I806F probably damaging Het
Ttc22 A G 4: 106,496,237 (GRCm39) D429G probably benign Het
Ube2o C A 11: 116,471,972 (GRCm39) G90C probably damaging Het
Usp34 T A 11: 23,332,602 (GRCm39) F1110I probably damaging Het
Vmn2r82 T C 10: 79,214,722 (GRCm39) L235P probably damaging Het
Vps35 A G 8: 86,013,129 (GRCm39) V116A probably benign Het
Wdfy3 A G 5: 102,046,291 (GRCm39) probably null Het
Zeb2 T C 2: 44,878,821 (GRCm39) K1138E probably benign Het
Zfp513 G A 5: 31,357,866 (GRCm39) T169I probably benign Het
Zfp629 T C 7: 127,211,551 (GRCm39) D86G probably benign 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
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
R5165:Cyth1 UTSW 11 118,059,908 (GRCm39) missense possibly damaging 0.82
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'- TCAGCTGGCCTTTGTGAAATTC -3'
(R):5'- CTGGGAACATATGTACACTTGGC -3'

Sequencing Primer
(F):5'- GGCACTCAGCAAGTTATC -3'
(R):5'- GGGAACATATGTACACTTGGCTCATC -3'
Posted On 2014-10-01