Incidental Mutation 'R0026:Exph5'
ID 15089
Institutional Source Beutler Lab
Gene Symbol Exph5
Ensembl Gene ENSMUSG00000034584
Gene Name exophilin 5
Synonyms AC079869.22gm5, Slac2b, slac2-b, B130009M24Rik
MMRRC Submission 038321-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0026 (G1)
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 53212970-53288814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53287779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1620 (D1620V)
Ref Sequence ENSEMBL: ENSMUSP00000062632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051014]
AlphaFold Q0VAV2
Predicted Effect probably benign
Transcript: ENSMUST00000051014
AA Change: D1620V

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000062632
Gene: ENSMUSG00000034584
AA Change: D1620V

DomainStartEndE-ValueType
low complexity region 112 131 N/A INTRINSIC
low complexity region 454 469 N/A INTRINSIC
low complexity region 673 682 N/A INTRINSIC
low complexity region 970 980 N/A INTRINSIC
low complexity region 1556 1568 N/A INTRINSIC
low complexity region 1747 1757 N/A INTRINSIC
low complexity region 1937 1959 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 78.7%
  • 3x: 68.7%
  • 10x: 42.4%
  • 20x: 22.6%
Validation Efficiency 96% (75/78)
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 synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 C T 7: 120,077,146 (GRCm39) probably benign Het
Acot10 G A 15: 20,666,322 (GRCm39) L140F probably benign Het
Asph A C 4: 9,601,361 (GRCm39) S129A probably damaging Het
Atrn T C 2: 130,799,840 (GRCm39) Y406H probably damaging Het
B4galt3 C T 1: 171,101,831 (GRCm39) probably benign Het
BC016579 T C 16: 45,460,730 (GRCm39) T113A probably benign Het
Bmpr1b A G 3: 141,576,494 (GRCm39) L113P probably benign Het
Casq1 T C 1: 172,046,967 (GRCm39) probably benign Het
Ccdc187 T C 2: 26,171,365 (GRCm39) D371G probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Cyp4b1 C T 4: 115,504,718 (GRCm39) G56D possibly damaging Het
Dock5 C A 14: 68,083,530 (GRCm39) E126D probably benign Het
Fancd2os G T 6: 113,574,652 (GRCm39) T118N probably damaging Het
Fli1 A G 9: 32,387,880 (GRCm39) Y37H probably damaging Het
Gm17521 G A X: 121,939,239 (GRCm39) S43L probably benign Het
Gnb3 A G 6: 124,814,380 (GRCm39) V135A probably benign Het
Ibtk A G 9: 85,572,356 (GRCm39) V1278A probably benign Het
Ighv1-58 G A 12: 115,275,907 (GRCm39) T77I probably benign Het
Lgsn T A 1: 31,242,524 (GRCm39) V202D probably damaging Het
Madd A G 2: 91,006,053 (GRCm39) F381L possibly damaging Het
Ntf3 T A 6: 126,078,768 (GRCm39) N246I probably damaging Het
Pds5b G A 5: 150,673,295 (GRCm39) probably benign Het
Ppp3cb C T 14: 20,581,836 (GRCm39) V60I probably benign Het
Prc1 T C 7: 79,960,809 (GRCm39) probably benign Het
Prpf31 T A 7: 3,642,667 (GRCm39) N413K probably benign Het
Rapgef5 T C 12: 117,652,896 (GRCm39) S307P probably benign Het
Rbfox2 T C 15: 76,968,357 (GRCm39) T435A possibly damaging Het
Senp1 T C 15: 97,974,549 (GRCm39) R88G probably damaging Het
Slc35b1 T C 11: 95,281,468 (GRCm39) S294P probably benign Het
Slc44a5 G A 3: 153,945,907 (GRCm39) probably benign Het
Spata31e2 T A 1: 26,722,450 (GRCm39) D910V probably benign Het
Taf1d T A 9: 15,219,944 (GRCm39) S64R probably damaging Het
Trim6 T A 7: 103,875,016 (GRCm39) probably null Het
Ttn T C 2: 76,599,534 (GRCm39) T19186A probably damaging Het
Uchl4 A T 9: 64,142,653 (GRCm39) probably null Het
Usp32 T C 11: 84,922,900 (GRCm39) S673G possibly damaging Het
Utrn T C 10: 12,601,940 (GRCm39) probably benign Het
Vps13b T C 15: 35,923,447 (GRCm39) I3774T possibly damaging Het
Vwa3a A G 7: 120,379,434 (GRCm39) Q513R probably damaging Het
Yipf1 T A 4: 107,202,357 (GRCm39) L240* probably null Het
Other mutations in Exph5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Exph5 APN 9 53,288,006 (GRCm39) nonsense probably null
IGL01387:Exph5 APN 9 53,285,265 (GRCm39) missense possibly damaging 0.95
IGL01985:Exph5 APN 9 53,287,869 (GRCm39) missense probably damaging 0.99
IGL02122:Exph5 APN 9 53,284,974 (GRCm39) missense probably benign 0.05
IGL02156:Exph5 APN 9 53,286,941 (GRCm39) missense probably damaging 0.96
IGL02192:Exph5 APN 9 53,287,625 (GRCm39) nonsense probably null
IGL02491:Exph5 APN 9 53,286,343 (GRCm39) missense possibly damaging 0.89
PIT4802001:Exph5 UTSW 9 53,286,278 (GRCm39) missense probably damaging 0.96
R0002:Exph5 UTSW 9 53,285,256 (GRCm39) missense probably damaging 0.99
R0086:Exph5 UTSW 9 53,249,230 (GRCm39) missense possibly damaging 0.90
R0152:Exph5 UTSW 9 53,264,504 (GRCm39) critical splice donor site probably null
R0369:Exph5 UTSW 9 53,284,602 (GRCm39) missense probably benign 0.35
R0409:Exph5 UTSW 9 53,285,643 (GRCm39) missense probably benign 0.00
R0517:Exph5 UTSW 9 53,284,062 (GRCm39) missense probably benign 0.02
R0658:Exph5 UTSW 9 53,288,775 (GRCm39) missense unknown
R1606:Exph5 UTSW 9 53,285,595 (GRCm39) missense probably benign 0.37
R1739:Exph5 UTSW 9 53,286,888 (GRCm39) missense possibly damaging 0.62
R1769:Exph5 UTSW 9 53,285,109 (GRCm39) missense probably benign 0.35
R1828:Exph5 UTSW 9 53,287,941 (GRCm39) missense possibly damaging 0.79
R1862:Exph5 UTSW 9 53,287,548 (GRCm39) missense probably benign
R1993:Exph5 UTSW 9 53,284,935 (GRCm39) missense possibly damaging 0.79
R2012:Exph5 UTSW 9 53,278,466 (GRCm39) missense possibly damaging 0.49
R2044:Exph5 UTSW 9 53,283,979 (GRCm39) missense possibly damaging 0.79
R2402:Exph5 UTSW 9 53,286,225 (GRCm39) nonsense probably null
R3817:Exph5 UTSW 9 53,286,794 (GRCm39) nonsense probably null
R4771:Exph5 UTSW 9 53,284,965 (GRCm39) missense possibly damaging 0.95
R4869:Exph5 UTSW 9 53,287,539 (GRCm39) missense possibly damaging 0.73
R4926:Exph5 UTSW 9 53,287,925 (GRCm39) missense possibly damaging 0.95
R4996:Exph5 UTSW 9 53,286,910 (GRCm39) missense possibly damaging 0.79
R5254:Exph5 UTSW 9 53,249,230 (GRCm39) missense probably damaging 0.99
R5522:Exph5 UTSW 9 53,285,613 (GRCm39) missense possibly damaging 0.90
R5947:Exph5 UTSW 9 53,286,522 (GRCm39) missense probably benign 0.04
R5961:Exph5 UTSW 9 53,288,555 (GRCm39) missense probably damaging 1.00
R6093:Exph5 UTSW 9 53,283,917 (GRCm39) missense possibly damaging 0.94
R6144:Exph5 UTSW 9 53,284,328 (GRCm39) missense probably benign 0.21
R6254:Exph5 UTSW 9 53,284,010 (GRCm39) missense possibly damaging 0.81
R6279:Exph5 UTSW 9 53,285,246 (GRCm39) missense possibly damaging 0.78
R6300:Exph5 UTSW 9 53,285,246 (GRCm39) missense possibly damaging 0.78
R6485:Exph5 UTSW 9 53,287,991 (GRCm39) missense possibly damaging 0.89
R6553:Exph5 UTSW 9 53,213,012 (GRCm39) start gained probably benign
R6792:Exph5 UTSW 9 53,286,617 (GRCm39) missense possibly damaging 0.52
R7026:Exph5 UTSW 9 53,251,728 (GRCm39) missense probably benign 0.27
R7340:Exph5 UTSW 9 53,288,309 (GRCm39) missense probably damaging 0.99
R7347:Exph5 UTSW 9 53,287,196 (GRCm39) missense possibly damaging 0.79
R7352:Exph5 UTSW 9 53,287,022 (GRCm39) missense probably benign 0.00
R7520:Exph5 UTSW 9 53,278,514 (GRCm39) critical splice donor site probably null
R7521:Exph5 UTSW 9 53,285,377 (GRCm39) missense possibly damaging 0.89
R7560:Exph5 UTSW 9 53,287,073 (GRCm39) missense probably benign 0.41
R7581:Exph5 UTSW 9 53,283,857 (GRCm39) missense possibly damaging 0.90
R7726:Exph5 UTSW 9 53,284,475 (GRCm39) missense possibly damaging 0.62
R7976:Exph5 UTSW 9 53,287,935 (GRCm39) missense possibly damaging 0.79
R8017:Exph5 UTSW 9 53,284,752 (GRCm39) missense probably benign
R8019:Exph5 UTSW 9 53,284,752 (GRCm39) missense probably benign
R8302:Exph5 UTSW 9 53,287,776 (GRCm39) missense possibly damaging 0.89
R8420:Exph5 UTSW 9 53,287,148 (GRCm39) nonsense probably null
R8551:Exph5 UTSW 9 53,285,351 (GRCm39) missense possibly damaging 0.94
R8708:Exph5 UTSW 9 53,287,096 (GRCm39) missense probably benign
R8889:Exph5 UTSW 9 53,287,955 (GRCm39) missense probably damaging 1.00
R9048:Exph5 UTSW 9 53,284,935 (GRCm39) missense possibly damaging 0.79
R9255:Exph5 UTSW 9 53,284,609 (GRCm39) missense possibly damaging 0.79
R9727:Exph5 UTSW 9 53,287,702 (GRCm39) missense probably damaging 0.96
X0028:Exph5 UTSW 9 53,287,563 (GRCm39) missense probably damaging 1.00
Z1177:Exph5 UTSW 9 53,288,719 (GRCm39) missense probably benign
Z1177:Exph5 UTSW 9 53,285,513 (GRCm39) missense probably benign 0.44
Posted On 2012-12-12