Incidental Mutation 'R8952:Cyth4'
ID 681722
Institutional Source Beutler Lab
Gene Symbol Cyth4
Ensembl Gene ENSMUSG00000018008
Gene Name cytohesin 4
Synonyms Pscd4, 2510004M07Rik, 5830469K17Rik
MMRRC Submission 068714-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R8952 (G1)
Quality Score 159.009
Status Validated
Chromosome 15
Chromosomal Location 78481247-78506219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78486937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 22 (I22V)
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 benign
Transcript: ENSMUST00000043069
AA Change: I22V

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000042698
Gene: ENSMUSG00000018008
AA Change: I22V

DomainStartEndE-ValueType
Sec7 58 243 1.05e-90 SMART
PH 260 377 2.11e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000229248
AA Change: I22V

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000229256
Predicted Effect probably damaging
Transcript: ENSMUST00000229295
AA Change: I19V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect unknown
Transcript: ENSMUST00000229717
AA Change: I22V
Predicted Effect probably damaging
Transcript: ENSMUST00000229796
AA Change: I19V

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231168
AA Change: I22V

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231180
AA Change: I22V

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.0783 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (45/45)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actmap T A 7: 26,900,025 (GRCm39) S134T probably damaging Het
Adamts12 A G 15: 11,286,065 (GRCm39) N758S probably damaging Het
Asb3 C A 11: 31,008,959 (GRCm39) Q287K probably damaging Het
Bach1 T A 16: 87,512,353 (GRCm39) N25K probably damaging Het
Carmil2 T A 8: 106,417,398 (GRCm39) V552E possibly damaging Het
Dock3 A G 9: 106,850,958 (GRCm39) F848S probably benign Het
Dytn G A 1: 63,698,111 (GRCm39) R299C Het
Fbxl18 C T 5: 142,871,502 (GRCm39) A578T probably damaging Het
Galr1 C T 18: 82,411,909 (GRCm39) C319Y probably damaging Het
Gstm7 T C 3: 107,838,757 (GRCm39) probably benign Het
Hspa1l G T 17: 35,196,946 (GRCm39) M328I probably benign Het
Itgad A T 7: 127,789,324 (GRCm39) Y596F probably damaging Het
Krt19 T A 11: 100,031,768 (GRCm39) N395Y possibly damaging Het
Lrit1 G A 14: 36,783,664 (GRCm39) A331T probably damaging Het
Mmp1b C T 9: 7,386,346 (GRCm39) V192I possibly damaging Het
Mrc1 C T 2: 14,253,735 (GRCm39) A252V probably damaging Het
Mucl2 C T 15: 103,929,445 (GRCm39) probably null Het
Nbeal1 A G 1: 60,299,459 (GRCm39) D1265G probably benign Het
Ndc1 T C 4: 107,247,623 (GRCm39) I477T probably benign Het
Neo1 A G 9: 58,897,545 (GRCm39) F137S probably benign Het
Nos2 A G 11: 78,836,089 (GRCm39) N384S probably benign Het
Nup133 T C 8: 124,634,500 (GRCm39) I1031V probably damaging Het
Nup98 A G 7: 101,835,859 (GRCm39) Y195H probably damaging Het
Obscn C T 11: 59,026,960 (GRCm39) C81Y probably damaging Het
Or1j10 A G 2: 36,267,402 (GRCm39) I205V probably benign Het
Pfn2 T C 3: 57,752,756 (GRCm39) D55G probably damaging Het
Pif1 A G 9: 65,499,499 (GRCm39) K485R probably damaging Het
Polr1e A G 4: 45,018,727 (GRCm39) E19G probably damaging Het
Prkdc T A 16: 15,491,624 (GRCm39) probably benign Het
Proca1 A C 11: 78,095,773 (GRCm39) H135P probably benign Het
Psd T C 19: 46,310,900 (GRCm39) K383R probably damaging Het
Ptcd1 A G 5: 145,091,944 (GRCm39) L385P probably damaging Het
Ptpra T G 2: 130,386,969 (GRCm39) I620S probably damaging Het
Rad54l2 T A 9: 106,566,050 (GRCm39) probably benign Het
Sgsm1 A T 5: 113,432,861 (GRCm39) N262K probably damaging Het
Stat1 G T 1: 52,187,042 (GRCm39) V450F probably benign Het
Thada G A 17: 84,736,524 (GRCm39) T919I probably benign Het
Thsd7a A T 6: 12,468,992 (GRCm39) L529I probably damaging Het
Ttn A G 2: 76,748,863 (GRCm39) V4062A probably benign Het
Usp9y A C Y: 1,332,662 (GRCm39) probably benign Het
Vmn2r98 A G 17: 19,285,531 (GRCm39) Y117C possibly damaging Het
Wdr33 A T 18: 31,960,393 (GRCm39) H19L possibly damaging Het
Wdr76 C A 2: 121,372,899 (GRCm39) H575Q probably benign Het
Xab2 A G 8: 3,663,875 (GRCm39) V348A probably damaging Het
Zfhx2 A T 14: 55,310,207 (GRCm39) Y780N possibly damaging Het
Zmynd12 T C 4: 119,302,081 (GRCm39) probably null 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
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
Z1177:Cyth4 UTSW 15 78,504,119 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAGGGTCACCAGCATCATG -3'
(R):5'- ACATTTGGTCAGGAGAGTGG -3'

Sequencing Primer
(F):5'- GTCACCAGCATCATGGGTCTC -3'
(R):5'- CTTGTGGGCATATGTAGTTTAGCC -3'
Posted On 2021-08-31