Incidental Mutation 'IGL02122:Exph5'
ID 280659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exph5
Ensembl Gene ENSMUSG00000034584
Gene Name exophilin 5
Synonyms AC079869.22gm5, Slac2b, slac2-b, B130009M24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02122
Quality Score
Status
Chromosome 9
Chromosomal Location 53212970-53288814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53284974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 685 (N685S)
Ref Sequence ENSEMBL: ENSMUSP00000062632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051014]
AlphaFold Q0VAV2
Predicted Effect probably benign
Transcript: ENSMUST00000051014
AA Change: N685S

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000062632
Gene: ENSMUSG00000034584
AA Change: N685S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132410
Coding Region Coverage
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,217,299 (GRCm39) T756I possibly damaging Het
Abi3bp T C 16: 56,507,491 (GRCm39) probably benign Het
Adcy5 G A 16: 35,103,982 (GRCm39) probably benign Het
Adcy6 T A 15: 98,496,763 (GRCm39) H504L possibly damaging Het
Ank2 A G 3: 126,731,523 (GRCm39) probably benign Het
Atxn2 A G 5: 121,916,093 (GRCm39) D34G probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Carmil1 T C 13: 24,220,541 (GRCm39) E657G possibly damaging Het
Cdc25c T C 18: 34,877,038 (GRCm39) I212V probably benign Het
Chl1 A G 6: 103,652,098 (GRCm39) D338G probably benign Het
Cog6 T C 3: 52,905,763 (GRCm39) I361V probably benign Het
Dip2c T C 13: 9,556,695 (GRCm39) S80P possibly damaging Het
Dmrtc2 A T 7: 24,572,008 (GRCm39) R34S possibly damaging Het
Flnc A T 6: 29,444,335 (GRCm39) I684L possibly damaging Het
Foxk1 T A 5: 142,437,184 (GRCm39) probably benign Het
Gprc6a T C 10: 51,502,819 (GRCm39) N348S probably benign Het
Gspt1 T C 16: 11,047,080 (GRCm39) K445R probably damaging Het
Hace1 T C 10: 45,494,700 (GRCm39) V170A probably damaging Het
Hydin T C 8: 111,221,047 (GRCm39) I1481T possibly damaging Het
Ighv4-1 A T 12: 113,912,145 (GRCm39) L36Q possibly damaging Het
Ints1 G A 5: 139,750,905 (GRCm39) Q833* probably null Het
Myo15a T C 11: 60,374,292 (GRCm39) F96L probably benign Het
Myom1 G T 17: 71,399,132 (GRCm39) R998L probably damaging Het
Nacc2 A G 2: 25,979,960 (GRCm39) S159P probably benign Het
Or5k15 T C 16: 58,710,134 (GRCm39) T150A probably benign Het
Or5w10 A G 2: 87,375,447 (GRCm39) V147A probably benign Het
Or7e177 T A 9: 20,211,880 (GRCm39) L128Q probably damaging Het
Pbrm1 A G 14: 30,811,573 (GRCm39) I1197V probably damaging Het
Pde4dip G A 3: 97,674,737 (GRCm39) R60C probably damaging Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Pitpnm1 T C 19: 4,157,796 (GRCm39) Y499H probably damaging Het
Plekhn1 C T 4: 156,308,313 (GRCm39) probably null Het
Prmt8 A G 6: 127,667,680 (GRCm39) Y332H probably benign Het
Prpf38a A G 4: 108,436,238 (GRCm39) I25T possibly damaging Het
Rpf1 T C 3: 146,227,022 (GRCm39) K44E probably benign Het
Rusc2 T C 4: 43,421,685 (GRCm39) F702L possibly damaging Het
Ryr2 A T 13: 11,756,755 (GRCm39) I1633K probably damaging Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Tkt T C 14: 30,293,158 (GRCm39) V510A possibly damaging Het
Tmem106a C A 11: 101,481,240 (GRCm39) N249K probably damaging Het
Tmpo A T 10: 90,999,998 (GRCm39) S157T possibly damaging Het
Tspan32 A T 7: 142,569,372 (GRCm39) I144F probably damaging Het
Ufsp2 G A 8: 46,448,685 (GRCm39) V429I probably benign Het
Unc13c T A 9: 73,641,679 (GRCm39) probably benign Het
Usp47 A T 7: 111,706,115 (GRCm39) K1259M probably damaging Het
Zdhhc18 A T 4: 133,340,946 (GRCm39) probably benign Het
Zfp507 G T 7: 35,475,520 (GRCm39) L898I probably damaging 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
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
R0026:Exph5 UTSW 9 53,287,779 (GRCm39) missense probably benign 0.38
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 2015-04-16