Incidental Mutation 'R6414:Cyth4'
ID 514884
Institutional Source Beutler Lab
Gene Symbol Cyth4
Ensembl Gene ENSMUSG00000018008
Gene Name cytohesin 4
Synonyms Pscd4, 2510004M07Rik, 5830469K17Rik
MMRRC Submission 044556-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R6414 (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 78492346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 125 (V125A)
Ref Sequence ENSEMBL: ENSMUSP00000155690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043069] [ENSMUST00000229248] [ENSMUST00000229256] [ENSMUST00000229295] [ENSMUST00000229717] [ENSMUST00000229796] [ENSMUST00000231168] [ENSMUST00000231180]
AlphaFold Q80YW0
Predicted Effect probably benign
Transcript: ENSMUST00000043069
AA Change: V125A

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000042698
Gene: ENSMUSG00000018008
AA Change: V125A

DomainStartEndE-ValueType
Sec7 58 243 1.05e-90 SMART
PH 260 377 2.11e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229233
Predicted Effect probably benign
Transcript: ENSMUST00000229248
Predicted Effect probably benign
Transcript: ENSMUST00000229256
Predicted Effect probably benign
Transcript: ENSMUST00000229295
Predicted Effect probably benign
Transcript: ENSMUST00000229717
Predicted Effect probably benign
Transcript: ENSMUST00000229796
Predicted Effect probably damaging
Transcript: ENSMUST00000231168
AA Change: V125A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000231180
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231176
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230583
Meta Mutation Damage Score 0.7990 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
Validation Efficiency 98% (57/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 T A 4: 144,503,985 (GRCm39) I389L possibly damaging Het
Acap1 A G 11: 69,775,162 (GRCm39) V367A probably benign Het
Alpk1 T C 3: 127,473,858 (GRCm39) D715G probably benign Het
Atg101 T A 15: 101,188,341 (GRCm39) C149S probably benign Het
Atp2c1 A T 9: 105,343,855 (GRCm39) I84N probably damaging Het
Ceacam20 C A 7: 19,710,056 (GRCm39) A360E probably damaging Het
Chd3 A T 11: 69,243,371 (GRCm39) probably null Het
Clcc1 G A 3: 108,584,167 (GRCm39) C517Y possibly damaging Het
Col6a5 T C 9: 105,769,465 (GRCm39) probably null Het
Ctnna3 T C 10: 64,096,644 (GRCm39) V394A probably benign Het
Ctsll3 A G 13: 60,948,113 (GRCm39) F188S probably damaging Het
Ddx43 G A 9: 78,308,218 (GRCm39) V131I probably benign Het
Elp4 A G 2: 105,734,788 (GRCm39) S16P possibly damaging Het
Espl1 T A 15: 102,223,995 (GRCm39) V1182E probably damaging Het
Fhod3 T C 18: 25,223,935 (GRCm39) S1094P possibly damaging Het
Fmo6 A T 1: 162,748,014 (GRCm39) V350D probably damaging Het
Frem1 A G 4: 82,858,773 (GRCm39) F1545S probably damaging Het
Gata3 T A 2: 9,863,245 (GRCm39) H423L possibly damaging Het
Golt1a A T 1: 133,248,032 (GRCm39) M87L probably damaging Het
Gpr171 A T 3: 59,005,544 (GRCm39) V77E probably damaging Het
Hectd2 A G 19: 36,596,186 (GRCm39) D757G probably benign Het
Hmmr A G 11: 40,606,694 (GRCm39) probably null Het
Il31ra A G 13: 112,660,441 (GRCm39) V635A possibly damaging Het
Lama1 T C 17: 68,053,905 (GRCm39) probably null Het
Ltbp4 G A 7: 27,010,140 (GRCm39) P1140L probably damaging Het
Macf1 A G 4: 123,386,988 (GRCm39) L1210P possibly damaging Het
Meox2 A T 12: 37,158,830 (GRCm39) M1L probably benign Het
Mex3d A G 10: 80,217,205 (GRCm39) S671P unknown Het
Mrgprb2 C T 7: 48,202,129 (GRCm39) V199I probably benign Het
Mroh9 A T 1: 162,902,271 (GRCm39) V114E probably damaging Het
Muc5b A G 7: 141,412,834 (GRCm39) K1927E unknown Het
Or4f52 A C 2: 111,061,497 (GRCm39) probably null Het
Or6c35 T A 10: 129,169,578 (GRCm39) I276K probably benign Het
Otogl C T 10: 107,617,911 (GRCm39) C1734Y probably damaging Het
Parp4 T A 14: 56,864,838 (GRCm39) probably null Het
Pcdh15 T A 10: 74,021,258 (GRCm39) N162K probably damaging Het
Pcdhb10 A C 18: 37,546,898 (GRCm39) H658P possibly damaging Het
Pgm2l1 G T 7: 99,904,747 (GRCm39) A160S possibly damaging Het
Prkag2 T A 5: 25,305,178 (GRCm39) probably benign Het
Rap1gap2 A G 11: 74,296,616 (GRCm39) L457P probably damaging Het
Rasef C T 4: 73,658,818 (GRCm39) V463M probably benign Het
Rb1 T C 14: 73,520,414 (GRCm39) S42G unknown Het
Reep3 C A 10: 66,875,356 (GRCm39) V36F probably damaging Het
Rhcg A G 7: 79,248,716 (GRCm39) probably null Het
Sbno1 T C 5: 124,533,994 (GRCm39) S661G probably benign Het
Slc25a3 T G 10: 90,958,190 (GRCm39) Q50P possibly damaging Het
Slc2a13 T A 15: 91,228,008 (GRCm39) I395F probably benign Het
Slc6a5 C T 7: 49,559,991 (GRCm39) probably benign Het
Snta1 G C 2: 154,219,987 (GRCm39) T391S possibly damaging Het
Spata7 T C 12: 98,629,479 (GRCm39) probably null Het
Stx17 A G 4: 48,158,809 (GRCm39) probably null Het
Terf2 A T 8: 107,803,486 (GRCm39) S365T probably benign Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Trim8 A T 19: 46,491,346 (GRCm39) H155L probably benign Het
Wipi2 T A 5: 142,641,693 (GRCm39) V83D probably damaging Het
Zbtb47 T G 9: 121,592,725 (GRCm39) D348E probably benign Het
Zfp316 C A 5: 143,240,639 (GRCm39) R460L possibly damaging Het
Zfp799 C T 17: 33,039,259 (GRCm39) V336M probably damaging Het
Zfp947 A T 17: 22,365,395 (GRCm39) I93N probably damaging Het
Zranb3 A G 1: 127,968,694 (GRCm39) Y74H probably benign 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
R7241:Cyth4 UTSW 15 78,491,245 (GRCm39) missense probably benign 0.38
R7472:Cyth4 UTSW 15 78,490,094 (GRCm39) missense probably damaging 1.00
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'- AAACTTGACTCAGTGGCCCAG -3'
(R):5'- GGCTTCTATGACCTGGATTCTC -3'

Sequencing Primer
(F):5'- TGACTCAGTGGCCCAGCATTC -3'
(R):5'- TCACCTCTACAGGGCCATG -3'
Posted On 2018-05-04