Incidental Mutation 'R9299:Cyth1'
ID 726320
Institutional Source Beutler Lab
Gene Symbol Cyth1
Ensembl Gene ENSMUSG00000017132
Gene Name cytohesin 1
Synonyms CLM1, Pscd1, CTH-1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R9299 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 118054996-118139452 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 118059837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017276] [ENSMUST00000100181] [ENSMUST00000106302] [ENSMUST00000106305]
AlphaFold Q9QX11
Predicted Effect probably benign
Transcript: ENSMUST00000017276
SMART Domains Protein: ENSMUSP00000017276
Gene: ENSMUSG00000017132

DomainStartEndE-ValueType
Sec7 59 244 1.38e-108 SMART
PH 261 378 4.8e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100181
SMART Domains Protein: ENSMUSP00000097756
Gene: ENSMUSG00000017132

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 benign
Transcript: ENSMUST00000106302
SMART Domains Protein: ENSMUSP00000101909
Gene: ENSMUSG00000017132

DomainStartEndE-ValueType
Sec7 61 246 1.38e-108 SMART
PH 263 381 4.18e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106305
SMART Domains Protein: ENSMUSP00000101912
Gene: ENSMUSG00000017132

DomainStartEndE-ValueType
Sec7 59 244 1.38e-108 SMART
PH 261 379 4.18e-25 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G T 9: 57,163,792 (GRCm39) R861S possibly damaging Het
Abca12 T A 1: 71,359,042 (GRCm39) N588I possibly damaging Het
Adamts9 A G 6: 92,773,976 (GRCm39) Y1727H probably benign Het
Ahnak G A 19: 8,989,824 (GRCm39) probably benign Het
Alad C T 4: 62,429,760 (GRCm39) probably null Het
Anapc15-ps C A 10: 95,509,077 (GRCm39) D68Y probably damaging Het
Arhgap45 T C 10: 79,862,565 (GRCm39) S645P possibly damaging Het
Atp9a A T 2: 168,554,666 (GRCm39) M1K probably null Het
B020004C17Rik A T 14: 57,254,230 (GRCm39) I118F probably damaging Het
Capn13 T A 17: 73,633,467 (GRCm39) probably null Het
Ccdc7a T C 8: 129,616,319 (GRCm39) Q928R probably benign Het
Cdc42bpa C A 1: 179,972,073 (GRCm39) L1292I probably damaging Het
Clec2e A C 6: 129,072,092 (GRCm39) F96V probably benign Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cnot1 T C 8: 96,468,448 (GRCm39) I1460M probably damaging Het
Cyc1 T C 15: 76,228,506 (GRCm39) V45A probably benign Het
Cyp4a10 A G 4: 115,376,947 (GRCm39) M104V probably benign Het
Dnhd1 T A 7: 105,369,806 (GRCm39) N4410K probably benign Het
Dok4 T A 8: 95,593,469 (GRCm39) T106S probably benign Het
Dpcd C A 19: 45,566,009 (GRCm39) Q203K probably damaging Het
Dph1 T A 11: 75,070,622 (GRCm39) Q339L possibly damaging Het
Dpy19l3 G T 7: 35,424,752 (GRCm39) S187* probably null Het
Eva1a G T 6: 82,069,047 (GRCm39) A125S probably damaging Het
Fam24b T A 7: 130,927,949 (GRCm39) Y80F probably benign Het
Frem2 T C 3: 53,563,980 (GRCm39) T176A probably benign Het
Gal3st3 A T 19: 5,356,868 (GRCm39) N81I probably damaging Het
Gm12888 G A 4: 121,182,044 (GRCm39) S16F unknown Het
Hsf5 T A 11: 87,526,770 (GRCm39) C481S probably benign Het
Ifi211 T A 1: 173,735,288 (GRCm39) Q47L probably damaging Het
Il17re A T 6: 113,440,971 (GRCm39) M202L probably benign Het
Krtap5-3 T A 7: 141,756,267 (GRCm39) H175Q unknown Het
Ksr2 G A 5: 117,885,399 (GRCm39) probably null Het
Lrtm1 C T 14: 28,743,714 (GRCm39) P61S probably damaging Het
Ltk A T 2: 119,584,721 (GRCm39) S487R possibly damaging Het
Mis18bp1 A T 12: 65,185,538 (GRCm39) D876E possibly damaging Het
Nalf1 T C 8: 9,820,156 (GRCm39) Y288C probably damaging Het
Or8b39 A G 9: 37,996,785 (GRCm39) T218A probably benign Het
Paqr7 A G 4: 134,234,311 (GRCm39) N56S probably benign Het
Pcdhb22 G T 18: 37,651,885 (GRCm39) E118* probably null Het
Pcdhb4 G A 18: 37,442,264 (GRCm39) A525T probably benign Het
Pik3cb A G 9: 98,943,844 (GRCm39) F653S probably damaging Het
Pla2g4e T A 2: 120,002,204 (GRCm39) D617V probably damaging Het
Plekha1 T A 7: 130,511,348 (GRCm39) C311S possibly damaging Het
Poteg A G 8: 27,940,287 (GRCm39) Y156C probably benign Het
Rev3l T C 10: 39,723,999 (GRCm39) S2644P probably damaging Het
Rnf40 T A 7: 127,188,172 (GRCm39) S2T probably benign Het
Rrp8 T C 7: 105,383,384 (GRCm39) D294G probably damaging Het
Slc6a21 T C 7: 44,937,130 (GRCm39) V252A Het
Slx9 C A 10: 77,351,535 (GRCm39) A14S possibly damaging Het
Socs1 T C 16: 10,602,578 (GRCm39) D53G possibly damaging Het
St6galnac6 G T 2: 32,502,345 (GRCm39) R78L probably benign Het
Tbce T C 13: 14,194,398 (GRCm39) K87R probably benign Het
Tep1 T C 14: 51,081,988 (GRCm39) probably benign Het
Thada T C 17: 84,749,205 (GRCm39) M589V probably benign Het
Thsd7a A G 6: 12,504,131 (GRCm39) F341S Het
Tmem82 A T 4: 141,343,861 (GRCm39) C136* probably null Het
Tmprss11a A T 5: 86,570,361 (GRCm39) C199* probably null Het
Zbtb48 T C 4: 152,105,147 (GRCm39) N505S possibly damaging Het
Zfp385b A T 2: 77,246,115 (GRCm39) V304E probably damaging 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
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
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'- GAGATGCCTCTCACAATGGG -3'
(R):5'- TCTCCTCAGAACTGCTTTGAG -3'

Sequencing Primer
(F):5'- AGTGGCACTCATCCCCG -3'
(R):5'- AGAACTGCTTTGAGCTTTATATCCC -3'
Posted On 2022-10-03