Incidental Mutation 'R7472:Cyth4'
ID 581332
Institutional Source Beutler Lab
Gene Symbol Cyth4
Ensembl Gene ENSMUSG00000018008
Gene Name cytohesin 4
Synonyms Pscd4, 2510004M07Rik, 5830469K17Rik
MMRRC Submission 045546-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7472 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 78481247-78506219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78490094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 72 (F72S)
Ref Sequence ENSEMBL: ENSMUSP00000042698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043069] [ENSMUST00000229248] [ENSMUST00000229256] [ENSMUST00000229295] [ENSMUST00000229717] [ENSMUST00000229796] [ENSMUST00000231168] [ENSMUST00000231180]
AlphaFold Q80YW0
Predicted Effect probably damaging
Transcript: ENSMUST00000043069
AA Change: F72S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042698
Gene: ENSMUSG00000018008
AA Change: F72S

DomainStartEndE-ValueType
Sec7 58 243 1.05e-90 SMART
PH 260 377 2.11e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229248
Predicted Effect unknown
Transcript: ENSMUST00000229256
AA Change: S23P
Predicted Effect probably benign
Transcript: ENSMUST00000229295
Predicted Effect silent
Transcript: ENSMUST00000229717
Predicted Effect probably benign
Transcript: ENSMUST00000229796
Predicted Effect probably damaging
Transcript: ENSMUST00000231168
AA Change: F72S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000231180
Meta Mutation Damage Score 0.9719 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (99/100)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PSCD family of proteins, which have 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 (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family function as GEPs for ADP-ribosylation factors (ARFs), which are guanine nucleotide-binding proteins involved in vesicular trafficking pathways. This protein exhibits GEP activity in vitro with ARF1 and ARF5, but is inactive with ARF6. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,545,219 (GRCm39) I78T probably benign Het
4921524J17Rik G A 8: 86,159,438 (GRCm39) probably benign Het
4932438H23Rik T C 16: 90,852,744 (GRCm39) T131A probably benign Het
Acbd6 G T 1: 155,463,213 (GRCm39) E138* probably null Het
Ago3 A G 4: 126,239,310 (GRCm39) V847A probably damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Als2cl C A 9: 110,727,174 (GRCm39) H913Q probably benign Het
Atf6 A C 1: 170,643,060 (GRCm39) S360R possibly damaging Het
Atm G C 9: 53,359,425 (GRCm39) N2789K possibly damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Bpifa6 A T 2: 153,831,249 (GRCm39) I272F possibly damaging Het
Cabin1 G T 10: 75,494,481 (GRCm39) P1633T probably damaging Het
Camsap2 A G 1: 136,209,131 (GRCm39) V119A probably damaging Het
Ccdc40 A G 11: 119,153,974 (GRCm39) E1082G probably benign Het
Cchcr1 C A 17: 35,839,248 (GRCm39) A479D probably damaging Het
Chpt1 C T 10: 88,312,230 (GRCm39) V349I probably benign Het
Cldn13 A T 5: 134,943,975 (GRCm39) I70K probably damaging Het
Col6a6 T A 9: 105,659,622 (GRCm39) D441V probably damaging Het
Cpne5 G T 17: 29,423,714 (GRCm39) T138K probably benign Het
Creb3l3 A T 10: 80,925,301 (GRCm39) probably null Het
Cst5 C T 2: 149,247,496 (GRCm39) L71F probably benign Het
Ctsb T C 14: 63,375,550 (GRCm39) V172A probably benign Het
Cyp19a1 A G 9: 54,074,277 (GRCm39) Y426H possibly damaging Het
D430041D05Rik G T 2: 104,240,484 (GRCm39) Q9K unknown Het
Dnah1 T A 14: 30,983,547 (GRCm39) I4099F probably damaging Het
Dnah1 T A 14: 31,022,748 (GRCm39) I1130F possibly damaging Het
Dnah12 A G 14: 26,578,592 (GRCm39) K3117R probably benign Het
Dpf3 A T 12: 83,319,159 (GRCm39) S275R probably benign Het
Dst A G 1: 34,257,578 (GRCm39) N2450S probably benign Het
Dync1h1 C T 12: 110,632,109 (GRCm39) R4460W probably damaging Het
Ecm1 A C 3: 95,642,632 (GRCm39) C414G possibly damaging Het
Eef2 G A 10: 81,015,384 (GRCm39) D302N probably benign Het
Egf T C 3: 129,479,912 (GRCm39) D1038G possibly damaging Het
Epm2aip1 T C 9: 111,101,467 (GRCm39) S147P probably damaging Het
Esam C A 9: 37,448,863 (GRCm39) P324T possibly damaging Het
Fbxo36 A G 1: 84,874,301 (GRCm39) D99G probably damaging Het
Fhad1 G A 4: 141,691,937 (GRCm39) R400C probably benign Het
Fhip2a A G 19: 57,357,017 (GRCm39) Y36C probably damaging Het
Fndc3b T C 3: 27,515,893 (GRCm39) T638A probably benign Het
Gba2 T C 4: 43,568,967 (GRCm39) T563A probably benign Het
Gm8180 T A 14: 44,021,094 (GRCm39) N38I possibly damaging Het
Hs3st4 A G 7: 123,996,249 (GRCm39) E305G probably damaging Het
Ireb2 T A 9: 54,791,338 (GRCm39) F191I probably benign Het
Irx3 T G 8: 92,526,625 (GRCm39) T360P probably benign Het
Itpr1 T A 6: 108,380,357 (GRCm39) I1375N probably benign Het
Klrh1 A T 6: 129,752,345 (GRCm39) F57I probably benign Het
Lama4 A T 10: 38,963,369 (GRCm39) I1314F possibly damaging Het
Lamb2 C A 9: 108,363,347 (GRCm39) A842D probably benign Het
Ldlrap1 A G 4: 134,486,307 (GRCm39) Y51H possibly damaging Het
Leo1 A G 9: 75,355,623 (GRCm39) D321G probably damaging Het
Lrrc14b A G 13: 74,511,226 (GRCm39) S285P probably damaging Het
Macf1 A G 4: 123,326,860 (GRCm39) V4881A probably benign Het
Mfsd2b A T 12: 4,916,481 (GRCm39) F333I probably damaging Het
Micall1 T C 15: 79,006,760 (GRCm39) S196P unknown Het
Mrps21 T C 3: 95,770,110 (GRCm39) N73S probably benign Het
Msantd5f5 G A 4: 73,542,736 (GRCm39) G79S probably damaging Het
Msln C T 17: 25,969,708 (GRCm39) V341M possibly damaging Het
Mybpc3 A T 2: 90,962,001 (GRCm39) M840L probably damaging Het
Myo7a A C 7: 97,714,000 (GRCm39) F1613V probably damaging Het
Naprt C T 15: 75,763,607 (GRCm39) probably null Het
Nbr1 T C 11: 101,462,765 (GRCm39) V572A probably damaging Het
Nfkbie A T 17: 45,870,233 (GRCm39) T193S probably damaging Het
Nlrp14 T G 7: 106,789,251 (GRCm39) N672K probably benign Het
Or11l3 A T 11: 58,516,260 (GRCm39) I204N probably damaging Het
Or4b1d A G 2: 89,968,668 (GRCm39) Y272H probably damaging Het
Or52ab2 A G 7: 102,969,656 (GRCm39) T13A Het
Or5b101 T C 19: 13,005,439 (GRCm39) T85A probably benign Het
Or6k14 A T 1: 173,927,299 (GRCm39) I92F probably damaging Het
Or8b49 A T 9: 38,506,200 (GRCm39) I228L probably benign Het
Oscar T C 7: 3,614,149 (GRCm39) T197A possibly damaging Het
P3h3 C A 6: 124,827,594 (GRCm39) A481S possibly damaging Het
Pcdh8 T C 14: 80,008,691 (GRCm39) probably null Het
Pcsk9 A T 4: 106,316,094 (GRCm39) H116Q probably benign Het
Ptcd1 A G 5: 145,091,540 (GRCm39) F520L possibly damaging Het
Rapgef2 T C 3: 78,976,580 (GRCm39) T1261A probably benign Het
Ribc2 T A 15: 85,019,446 (GRCm39) M76K probably benign Het
Sin3b A G 8: 73,479,853 (GRCm39) E853G probably damaging Het
Slit2 A G 5: 48,414,180 (GRCm39) D940G probably damaging Het
Smarcb1 T A 10: 75,733,373 (GRCm39) N342Y probably damaging Het
Smurf2 A T 11: 106,726,921 (GRCm39) I469N probably damaging Het
Spata31h1 T C 10: 82,119,421 (GRCm39) I4530V probably benign Het
Spta1 T C 1: 174,074,065 (GRCm39) Y2335H probably damaging Het
Suz12 C T 11: 79,915,801 (GRCm39) R425C probably benign Het
Synpo G A 18: 60,762,895 (GRCm39) A4V probably benign Het
Tet1 A C 10: 62,649,129 (GRCm39) S157A possibly damaging Het
Themis A G 10: 28,637,415 (GRCm39) E173G possibly damaging Het
Timmdc1 A T 16: 38,325,780 (GRCm39) L197* probably null Het
Tmem63c T C 12: 87,115,932 (GRCm39) F191S possibly damaging Het
Tnn G A 1: 159,937,917 (GRCm39) T1200I probably benign Het
Traf6 A G 2: 101,527,537 (GRCm39) H429R probably benign Het
Trem3 T C 17: 48,556,873 (GRCm39) S115P probably benign Het
Trip11 A T 12: 101,851,639 (GRCm39) N808K probably benign Het
Trub2 A T 2: 29,673,385 (GRCm39) V106E probably damaging Het
Ugcg A G 4: 59,217,156 (GRCm39) I227V probably benign Het
Vat1l G A 8: 114,963,539 (GRCm39) probably null Het
Vmn1r184 T C 7: 25,966,824 (GRCm39) M190T possibly damaging Het
Vmn2r3 T C 3: 64,182,953 (GRCm39) T249A probably benign Het
Zfp729b A C 13: 67,742,002 (GRCm39) S88A probably benign Het
Zfp995 T C 17: 22,099,181 (GRCm39) Y351C probably damaging Het
Other mutations in Cyth4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00936:Cyth4 APN 15 78,504,113 (GRCm39) missense probably benign 0.00
R0522:Cyth4 UTSW 15 78,499,985 (GRCm39) missense possibly damaging 0.67
R0584:Cyth4 UTSW 15 78,494,078 (GRCm39) splice site probably null
R2018:Cyth4 UTSW 15 78,492,371 (GRCm39) missense probably damaging 1.00
R3804:Cyth4 UTSW 15 78,494,002 (GRCm39) missense probably damaging 1.00
R3811:Cyth4 UTSW 15 78,488,849 (GRCm39) missense probably damaging 1.00
R4728:Cyth4 UTSW 15 78,486,913 (GRCm39) missense probably benign 0.01
R4738:Cyth4 UTSW 15 78,490,074 (GRCm39) missense probably benign 0.02
R5392:Cyth4 UTSW 15 78,491,185 (GRCm39) missense probably damaging 1.00
R5594:Cyth4 UTSW 15 78,491,275 (GRCm39) splice site probably null
R6414:Cyth4 UTSW 15 78,492,346 (GRCm39) missense probably damaging 0.97
R7241:Cyth4 UTSW 15 78,491,245 (GRCm39) missense probably benign 0.38
R8253:Cyth4 UTSW 15 78,486,937 (GRCm39) missense probably benign 0.09
R8372:Cyth4 UTSW 15 78,481,335 (GRCm39) start gained probably benign
R8952:Cyth4 UTSW 15 78,486,937 (GRCm39) missense probably benign 0.09
Z1177:Cyth4 UTSW 15 78,504,119 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCAGTGCTCAGCTTACAGC -3'
(R):5'- CAAAGGCTTGTCCCTGTTGG -3'

Sequencing Primer
(F):5'- GCTCTCTCATGTGGTCCAGG -3'
(R):5'- GGTGGTTTGCAGGGTCAGC -3'
Posted On 2019-10-17