Incidental Mutation 'R7237:Cyth1'
ID 562918
Institutional Source Beutler Lab
Gene Symbol Cyth1
Ensembl Gene ENSMUSG00000017132
Gene Name cytohesin 1
Synonyms CLM1, Pscd1, CTH-1
MMRRC Submission 045344-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R7237 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 118054996-118139452 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118076321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 95 (I95N)
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: I81N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000017276
Gene: ENSMUSG00000017132
AA Change: I81N

DomainStartEndE-ValueType
Sec7 59 244 1.38e-108 SMART
PH 261 378 4.8e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100181
AA Change: I95N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097756
Gene: ENSMUSG00000017132
AA Change: I95N

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: I83N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101909
Gene: ENSMUSG00000017132
AA Change: I83N

DomainStartEndE-ValueType
Sec7 61 246 1.38e-108 SMART
PH 263 381 4.18e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106305
AA Change: I81N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101912
Gene: ENSMUSG00000017132
AA Change: I81N

DomainStartEndE-ValueType
Sec7 59 244 1.38e-108 SMART
PH 261 379 4.18e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000151165
AA Change: I83N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114792
Gene: ENSMUSG00000017132
AA Change: I83N

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (83/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 A T 2: 20,854,783 (GRCm39) C1536* probably null Het
Armc9 C A 1: 86,092,571 (GRCm39) Q169K possibly damaging Het
Aspm T A 1: 139,405,667 (GRCm39) M1518K possibly damaging Het
AU018091 A G 7: 3,209,006 (GRCm39) I360T probably benign Het
BB014433 C A 8: 15,091,765 (GRCm39) V363L probably benign Het
Bcam T C 7: 19,503,232 (GRCm39) probably null Het
Cacna1g T C 11: 94,328,705 (GRCm39) S1071G probably benign Het
Card9 A T 2: 26,246,787 (GRCm39) S354T probably benign Het
Ccdc87 A G 19: 4,889,790 (GRCm39) N94S probably benign Het
Cdc27 A G 11: 104,408,245 (GRCm39) V555A probably benign Het
Coro1a T A 7: 126,299,478 (GRCm39) D411V probably benign Het
Cybrd1 GGTCCTGCAC G 2: 70,948,553 (GRCm39) probably benign Het
Dnah7b A T 1: 46,179,126 (GRCm39) E933V probably damaging Het
Dync2h1 A T 9: 6,993,966 (GRCm39) I3968N probably benign Het
Fam184a T C 10: 53,510,489 (GRCm39) probably benign Het
Fat3 G A 9: 16,288,510 (GRCm39) L338F probably damaging Het
Fcgr3 A G 1: 170,886,870 (GRCm39) L18P probably damaging Het
Gbp5 T C 3: 142,213,461 (GRCm39) V459A probably benign Het
Gja4 A T 4: 127,205,956 (GRCm39) M269K probably benign Het
Gm4787 A G 12: 81,424,442 (GRCm39) V572A probably damaging Het
Grin2d G T 7: 45,515,600 (GRCm39) S131* probably null Het
Gys1 A G 7: 45,104,586 (GRCm39) D671G probably benign Het
Haspin T C 11: 73,027,712 (GRCm39) N459S probably benign Het
Hdac10 G T 15: 89,009,580 (GRCm39) Q451K probably benign Het
Hdac9 T C 12: 34,424,139 (GRCm39) probably null Het
Hmcn1 A G 1: 150,598,394 (GRCm39) V1636A probably damaging Het
Hpca A G 4: 129,012,407 (GRCm39) L43P probably damaging Het
Hycc2 G A 1: 58,569,107 (GRCm39) Q491* probably null Het
Insm1 C A 2: 146,064,448 (GRCm39) A88E possibly damaging Het
Itga9 A G 9: 118,465,670 (GRCm39) K175E probably benign Het
Kif13a A G 13: 46,962,632 (GRCm39) probably null Het
Kif20b T A 19: 34,928,005 (GRCm39) L1089H probably damaging Het
Lamp5 A T 2: 135,901,755 (GRCm39) H152L probably benign Het
Lrp4 T C 2: 91,303,528 (GRCm39) F76L probably benign Het
Magi3 T C 3: 103,935,227 (GRCm39) D902G probably damaging Het
Map10 C T 8: 126,397,963 (GRCm39) P452L probably benign Het
Mapk6 A G 9: 75,304,895 (GRCm39) L174P probably damaging Het
Meak7 C T 8: 120,489,054 (GRCm39) G410S probably damaging Het
Ndufa4 C T 6: 11,906,018 (GRCm39) probably null Het
Nedd4 A T 9: 72,632,346 (GRCm39) E393D probably benign Het
Nlrp4b G A 7: 10,449,143 (GRCm39) V449I probably benign Het
Nufip2 T A 11: 77,583,596 (GRCm39) N503K probably benign Het
Or10ac1 T C 6: 42,515,581 (GRCm39) D125G probably damaging Het
Or6y1 C T 1: 174,276,905 (GRCm39) R239C probably benign Het
P4ha1 A G 10: 59,184,065 (GRCm39) T176A probably benign Het
Palm3 A G 8: 84,756,117 (GRCm39) K543R probably benign Het
Parvg G A 15: 84,225,557 (GRCm39) A302T probably benign Het
Pcdh15 A G 10: 74,420,023 (GRCm39) D1227G possibly damaging Het
Pdzd8 C T 19: 59,333,571 (GRCm39) G150D probably damaging Het
Pitpnm2 A G 5: 124,263,360 (GRCm39) probably null Het
Pld5 T C 1: 176,102,301 (GRCm39) Q47R possibly damaging Het
Ppp2r5d T C 17: 46,997,206 (GRCm39) S329G possibly damaging Het
Prss56 T C 1: 87,112,637 (GRCm39) V144A probably damaging Het
Psg28 A T 7: 18,161,769 (GRCm39) Y245N possibly damaging Het
Ptpn3 C T 4: 57,239,625 (GRCm39) V302I probably damaging Het
Ptprn2 A G 12: 117,125,347 (GRCm39) H627R probably benign Het
Rasgrp2 A T 19: 6,454,838 (GRCm39) H226L possibly damaging Het
Rbm20 C T 19: 53,839,930 (GRCm39) T973M probably benign Het
Rigi T A 4: 40,205,938 (GRCm39) I885F probably benign Het
Riok2 T A 17: 17,598,045 (GRCm39) L44Q probably damaging Het
Rusc1 G T 3: 88,998,805 (GRCm39) Q326K possibly damaging Het
Rxylt1 A T 10: 121,917,523 (GRCm39) L330* probably null Het
Sart3 A T 5: 113,892,307 (GRCm39) H397Q possibly damaging Het
Sec31b T A 19: 44,506,147 (GRCm39) T920S probably damaging Het
Serpinb13 A G 1: 106,926,679 (GRCm39) E225G probably damaging Het
Slc25a47 T C 12: 108,821,386 (GRCm39) L165P probably damaging Het
Slc2a10 G A 2: 165,357,197 (GRCm39) V286I probably benign Het
Slc39a13 G T 2: 90,895,979 (GRCm39) T174N probably benign Het
Slc7a13 T A 4: 19,839,364 (GRCm39) N322K probably benign Het
Stk38 T C 17: 29,193,620 (GRCm39) T326A possibly damaging Het
Sult1a1 T C 7: 126,272,622 (GRCm39) M244V probably benign Het
Tas2r144 C T 6: 42,192,800 (GRCm39) T180I probably damaging Het
Tbc1d12 T A 19: 38,887,346 (GRCm39) M366K probably benign Het
Terb1 T C 8: 105,221,959 (GRCm39) I147V possibly damaging Het
Tnik T C 3: 28,692,568 (GRCm39) Y820H probably damaging Het
Tnxb C A 17: 34,901,170 (GRCm39) L995I possibly damaging Het
Trim34b A G 7: 103,978,794 (GRCm39) T14A possibly damaging Het
Urb1 T C 16: 90,588,054 (GRCm39) E418G probably damaging Het
Vmn1r12 T A 6: 57,136,550 (GRCm39) C216S possibly damaging Het
Vmn2r90 T A 17: 17,924,249 (GRCm39) V16E possibly damaging Het
Vps11 A T 9: 44,265,803 (GRCm39) V492D probably damaging Het
Wdr62 A C 7: 29,969,869 (GRCm39) probably null Het
Zc3h14 T A 12: 98,746,408 (GRCm39) M539K probably benign Het
Zfp871 A T 17: 32,994,289 (GRCm39) H295Q 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
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'- AGGTAATCCCTCCACTCAGC -3'
(R):5'- AGGACTCTAAGTTGCTGTTCTC -3'

Sequencing Primer
(F):5'- ACCCCATGGACTTAGGCAG -3'
(R):5'- ACTCTAAGTTGCTGTTCTCTGGAG -3'
Posted On 2019-06-26