Incidental Mutation 'R3811:Cyth4'
ID 275207
Institutional Source Beutler Lab
Gene Symbol Cyth4
Ensembl Gene ENSMUSG00000018008
Gene Name cytohesin 4
Synonyms Pscd4, 2510004M07Rik, 5830469K17Rik
MMRRC Submission 040767-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R3811 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 78481247-78506219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78488849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 39 (E39G)
Ref Sequence ENSEMBL: ENSMUSP00000154995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043069] [ENSMUST00000229248] [ENSMUST00000229256] [ENSMUST00000229295] [ENSMUST00000229717] [ENSMUST00000229796] [ENSMUST00000231168] [ENSMUST00000231180]
AlphaFold Q80YW0
Predicted Effect possibly damaging
Transcript: ENSMUST00000043069
AA Change: E39G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042698
Gene: ENSMUSG00000018008
AA Change: E39G

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 damaging
Transcript: ENSMUST00000229248
AA Change: E39G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000229256
Predicted Effect probably damaging
Transcript: ENSMUST00000229295
AA Change: E36G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000229717
Predicted Effect probably damaging
Transcript: ENSMUST00000229796
AA Change: E36G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000231168
AA Change: E39G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000231180
AA Change: E39G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231176
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230705
Meta Mutation Damage Score 0.3248 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 97% (36/37)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 G T 6: 34,776,664 (GRCm39) S385I probably damaging Het
Arhgap28 G A 17: 68,203,088 (GRCm39) P122S probably benign Het
Arid2 T C 15: 96,186,967 (GRCm39) V73A probably benign Het
Atp1b1 C T 1: 164,270,874 (GRCm39) R35H probably benign Het
Cacybp T C 1: 160,031,222 (GRCm39) D202G probably benign Het
Chsy3 C G 18: 59,309,242 (GRCm39) P165R probably benign Het
Creb3 C T 4: 43,565,501 (GRCm39) Q227* probably null Het
Crnkl1 C A 2: 145,773,226 (GRCm39) R140L probably damaging Het
Dnah6 T C 6: 73,168,481 (GRCm39) T481A probably benign Het
Dock4 T A 12: 40,829,123 (GRCm39) I1003N possibly damaging Het
Galntl5 T C 5: 25,391,178 (GRCm39) F26L probably benign Het
Glrx5 C G 12: 104,999,147 (GRCm39) C63W probably damaging Het
Gm9602 T A 14: 15,932,645 (GRCm39) I28N probably damaging Het
Hivep2 A G 10: 14,006,101 (GRCm39) T900A probably benign Het
Hmcn1 A G 1: 150,525,328 (GRCm39) probably null Het
Ighv1-24 G T 12: 114,736,685 (GRCm39) L72I probably benign Het
Ilvbl G A 10: 78,414,869 (GRCm39) C244Y probably benign Het
Kat7 A G 11: 95,182,441 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Lamc1 A T 1: 153,138,454 (GRCm39) probably null Het
Mall T A 2: 127,550,774 (GRCm39) I129F probably damaging Het
Mdn1 A T 4: 32,693,506 (GRCm39) K1044* probably null Het
Med23 A T 10: 24,768,490 (GRCm39) R77* probably null Het
Med23 G A 10: 24,768,491 (GRCm39) probably null Het
Metap2 A T 10: 93,706,026 (GRCm39) L252* probably null Het
Or8k28 A T 2: 86,285,691 (GRCm39) V308E probably benign Het
Psmd1 T A 1: 86,060,437 (GRCm39) V828D probably damaging Het
Psmd9 C T 5: 123,372,653 (GRCm39) probably benign Het
Rbbp5 T C 1: 132,420,325 (GRCm39) V59A probably damaging Het
Sco2 T C 15: 89,257,882 (GRCm39) probably benign Het
Slc32a1 G T 2: 158,456,656 (GRCm39) C437F possibly damaging Het
Spem2 T C 11: 69,707,990 (GRCm39) E325G possibly damaging Het
Steap4 A G 5: 8,027,017 (GRCm39) T327A probably benign Het
Tsc2 T C 17: 24,848,011 (GRCm39) D70G probably benign Het
Txndc5 T C 13: 38,707,381 (GRCm39) K99E 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
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
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'- AGGGCTGGTACATGCACAAG -3'
(R):5'- AGCCTCTGACCGGTAATGTG -3'

Sequencing Primer
(F):5'- TGGTACATGCACAAGAGCCAAAC -3'
(R):5'- TCTGACCGGTAATGTGCAGGC -3'
Posted On 2015-04-02