Incidental Mutation 'IGL02122:Exph5'
ID280659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exph5
Ensembl Gene ENSMUSG00000034584
Gene Nameexophilin 5
SynonymsSlac2b, AC079869.22gm5, B130009M24Rik, slac2-b
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02122
Quality Score
Status
Chromosome9
Chromosomal Location53301670-53377514 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 53373674 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 685 (N685S)
Ref Sequence ENSEMBL: ENSMUSP00000062632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051014]
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: 71,170,525 T756I possibly damaging Het
Abi3bp T C 16: 56,687,128 probably benign Het
Adcy5 G A 16: 35,283,612 probably benign Het
Adcy6 T A 15: 98,598,882 H504L possibly damaging Het
Ank2 A G 3: 126,937,874 probably benign Het
Atxn2 A G 5: 121,778,030 D34G probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Carmil1 T C 13: 24,036,558 E657G possibly damaging Het
Cdc25c T C 18: 34,743,985 I212V probably benign Het
Chl1 A G 6: 103,675,137 D338G probably benign Het
Cog6 T C 3: 52,998,342 I361V probably benign Het
Dip2c T C 13: 9,506,659 S80P possibly damaging Het
Dmrtc2 A T 7: 24,872,583 R34S possibly damaging Het
Flnc A T 6: 29,444,336 I684L possibly damaging Het
Foxk1 T A 5: 142,451,429 probably benign Het
Gprc6a T C 10: 51,626,723 N348S probably benign Het
Gspt1 T C 16: 11,229,216 K445R probably damaging Het
Hace1 T C 10: 45,618,604 V170A probably damaging Het
Hydin T C 8: 110,494,415 I1481T possibly damaging Het
Ighv4-1 A T 12: 113,948,525 L36Q possibly damaging Het
Ints1 G A 5: 139,765,150 Q833* probably null Het
Myo15 T C 11: 60,483,466 F96L probably benign Het
Myom1 G T 17: 71,092,137 R998L probably damaging Het
Nacc2 A G 2: 26,089,948 S159P probably benign Het
Olfr1128 A G 2: 87,545,103 V147A probably benign Het
Olfr178 T C 16: 58,889,771 T150A probably benign Het
Olfr873 T A 9: 20,300,584 L128Q probably damaging Het
Pbrm1 A G 14: 31,089,616 I1197V probably damaging Het
Pde4dip G A 3: 97,767,421 R60C probably damaging Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Pitpnm1 T C 19: 4,107,796 Y499H probably damaging Het
Plekhn1 C T 4: 156,223,856 probably null Het
Prmt8 A G 6: 127,690,717 Y332H probably benign Het
Prpf38a A G 4: 108,579,041 I25T possibly damaging Het
Rpf1 T C 3: 146,521,267 K44E probably benign Het
Rusc2 T C 4: 43,421,685 F702L possibly damaging Het
Ryr2 A T 13: 11,741,869 I1633K probably damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Tkt T C 14: 30,571,201 V510A possibly damaging Het
Tmem106a C A 11: 101,590,414 N249K probably damaging Het
Tmpo A T 10: 91,164,136 S157T possibly damaging Het
Tspan32 A T 7: 143,015,635 I144F probably damaging Het
Ufsp2 G A 8: 45,995,648 V429I probably benign Het
Unc13c T A 9: 73,734,397 probably benign Het
Usp47 A T 7: 112,106,908 K1259M probably damaging Het
Zdhhc18 A T 4: 133,613,635 probably benign Het
Zfp507 G T 7: 35,776,095 L898I probably damaging Het
Other mutations in Exph5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Exph5 APN 9 53376706 nonsense probably null
IGL01387:Exph5 APN 9 53373965 missense possibly damaging 0.95
IGL01985:Exph5 APN 9 53376569 missense probably damaging 0.99
IGL02156:Exph5 APN 9 53375641 missense probably damaging 0.96
IGL02192:Exph5 APN 9 53376325 nonsense probably null
IGL02491:Exph5 APN 9 53375043 missense possibly damaging 0.89
PIT4802001:Exph5 UTSW 9 53374978 missense probably damaging 0.96
R0002:Exph5 UTSW 9 53373956 missense probably damaging 0.99
R0026:Exph5 UTSW 9 53376479 missense probably benign 0.38
R0086:Exph5 UTSW 9 53337930 missense possibly damaging 0.90
R0152:Exph5 UTSW 9 53353204 critical splice donor site probably null
R0369:Exph5 UTSW 9 53373302 missense probably benign 0.35
R0409:Exph5 UTSW 9 53374343 missense probably benign 0.00
R0517:Exph5 UTSW 9 53372762 missense probably benign 0.02
R0658:Exph5 UTSW 9 53377475 missense unknown
R1606:Exph5 UTSW 9 53374295 missense probably benign 0.37
R1739:Exph5 UTSW 9 53375588 missense possibly damaging 0.62
R1769:Exph5 UTSW 9 53373809 missense probably benign 0.35
R1828:Exph5 UTSW 9 53376641 missense possibly damaging 0.79
R1862:Exph5 UTSW 9 53376248 missense probably benign
R1993:Exph5 UTSW 9 53373635 missense possibly damaging 0.79
R2012:Exph5 UTSW 9 53367166 missense possibly damaging 0.49
R2044:Exph5 UTSW 9 53372679 missense possibly damaging 0.79
R2402:Exph5 UTSW 9 53374925 nonsense probably null
R3817:Exph5 UTSW 9 53375494 nonsense probably null
R4771:Exph5 UTSW 9 53373665 missense possibly damaging 0.95
R4869:Exph5 UTSW 9 53376239 missense possibly damaging 0.73
R4926:Exph5 UTSW 9 53376625 missense possibly damaging 0.95
R4996:Exph5 UTSW 9 53375610 missense possibly damaging 0.79
R5254:Exph5 UTSW 9 53337930 missense probably damaging 0.99
R5522:Exph5 UTSW 9 53374313 missense possibly damaging 0.90
R5947:Exph5 UTSW 9 53375222 missense probably benign 0.04
R5961:Exph5 UTSW 9 53377255 missense probably damaging 1.00
R6093:Exph5 UTSW 9 53372617 missense possibly damaging 0.94
R6144:Exph5 UTSW 9 53373028 missense probably benign 0.21
R6254:Exph5 UTSW 9 53372710 missense possibly damaging 0.81
R6279:Exph5 UTSW 9 53373946 missense possibly damaging 0.78
R6300:Exph5 UTSW 9 53373946 missense possibly damaging 0.78
R6485:Exph5 UTSW 9 53376691 missense possibly damaging 0.89
R6553:Exph5 UTSW 9 53301712 start gained probably benign
R6792:Exph5 UTSW 9 53375317 missense possibly damaging 0.52
R7026:Exph5 UTSW 9 53340428 missense probably benign 0.27
R7340:Exph5 UTSW 9 53377009 missense probably damaging 0.99
R7347:Exph5 UTSW 9 53375896 missense possibly damaging 0.79
R7352:Exph5 UTSW 9 53375722 missense probably benign 0.00
R7520:Exph5 UTSW 9 53367214 critical splice donor site probably null
R7521:Exph5 UTSW 9 53374077 missense possibly damaging 0.89
R7560:Exph5 UTSW 9 53375773 missense probably benign 0.41
R7581:Exph5 UTSW 9 53372557 missense possibly damaging 0.90
R7726:Exph5 UTSW 9 53373175 missense possibly damaging 0.62
X0028:Exph5 UTSW 9 53376263 missense probably damaging 1.00
Posted On2015-04-16