Incidental Mutation 'IGL02491:Exph5'
ID 295666
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 # IGL02491
Quality Score
Status
Chromosome 9
Chromosomal Location 53212970-53288814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53286343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1141 (D1141E)
Ref Sequence ENSEMBL: ENSMUSP00000062632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051014]
AlphaFold Q0VAV2
Predicted Effect possibly damaging
Transcript: ENSMUST00000051014
AA Change: D1141E

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062632
Gene: ENSMUSG00000034584
AA Change: D1141E

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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,067,794 (GRCm39) probably benign Het
Acacb T A 5: 114,330,166 (GRCm39) I443N probably damaging Het
C1qtnf3 A T 15: 10,972,067 (GRCm39) I118F possibly damaging Het
Carmil3 C T 14: 55,741,974 (GRCm39) A1148V probably benign Het
Ccdc62 A T 5: 124,099,378 (GRCm39) S677C probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Col11a2 C A 17: 34,283,181 (GRCm39) probably benign Het
Cpsf7 A G 19: 10,517,001 (GRCm39) I368V possibly damaging Het
Csmd2 T C 4: 128,428,050 (GRCm39) S2934P probably benign Het
Csmd3 A G 15: 47,777,511 (GRCm39) probably benign Het
Cubn A G 2: 13,326,039 (GRCm39) Y2709H probably damaging Het
Cyp2d12 T A 15: 82,442,682 (GRCm39) L375Q possibly damaging Het
Etv4 A T 11: 101,674,791 (GRCm39) probably null Het
Fbxo16 T A 14: 65,558,736 (GRCm39) H298Q probably benign Het
Fbxw21 T A 9: 108,972,887 (GRCm39) Y349F probably benign Het
Foxs1 G A 2: 152,774,721 (GRCm39) R111C probably damaging Het
Galnt15 T A 14: 31,778,273 (GRCm39) L436Q probably damaging Het
Gbf1 T C 19: 46,250,979 (GRCm39) probably benign Het
Gm8237 A T 14: 5,863,577 (GRCm38) C29* probably null Het
Hcn1 A G 13: 117,946,576 (GRCm39) D317G unknown Het
Itgam A G 7: 127,715,190 (GRCm39) N877D possibly damaging Het
Kcnma1 T C 14: 23,361,757 (GRCm39) R1047G probably damaging Het
Klhdc3 T C 17: 46,988,226 (GRCm39) R180G possibly damaging Het
Lpcat2 T C 8: 93,600,879 (GRCm39) V241A probably damaging Het
Mnat1 A G 12: 73,170,682 (GRCm39) N24S probably null Het
Mprip A G 11: 59,660,857 (GRCm39) T967A probably benign Het
Mtf1 T C 4: 124,732,372 (GRCm39) F477L probably benign Het
Naaladl1 A G 19: 6,159,748 (GRCm39) E393G possibly damaging Het
Or10ak7 A T 4: 118,791,358 (GRCm39) L229H probably damaging Het
Or2at1 A G 7: 99,416,540 (GRCm39) E57G possibly damaging Het
Or5e1 A G 7: 108,354,321 (GRCm39) K86R probably damaging Het
Pcdhb6 A T 18: 37,468,735 (GRCm39) D552V probably damaging Het
Pglyrp3 C T 3: 91,921,944 (GRCm39) S4F possibly damaging Het
Pramel13 A T 4: 144,121,322 (GRCm39) M234K probably damaging Het
Prss27 A T 17: 24,263,229 (GRCm39) probably benign Het
Slc5a9 A G 4: 111,753,549 (GRCm39) S51P probably damaging Het
Slc6a4 A G 11: 76,918,034 (GRCm39) Y592C probably damaging Het
Slc7a13 T A 4: 19,841,404 (GRCm39) V417D probably damaging Het
Spring1 T C 5: 118,397,160 (GRCm39) Y130H probably benign Het
Syne2 A G 12: 76,118,953 (GRCm39) T5857A probably benign Het
Thap1 A C 8: 26,650,885 (GRCm39) S52R probably damaging Het
Thsd4 T C 9: 59,907,301 (GRCm39) N158S probably damaging Het
Tmem147 A T 7: 30,427,626 (GRCm39) probably benign Het
Trdmt1 G A 2: 13,521,483 (GRCm39) A311V probably benign Het
U2surp T A 9: 95,372,273 (GRCm39) R296S probably damaging Het
Upf2 A G 2: 6,030,975 (GRCm39) D805G unknown Het
Usp34 T A 11: 23,382,630 (GRCm39) H2057Q probably damaging Het
Vmn2r110 T A 17: 20,816,400 (GRCm39) D41V probably damaging Het
Vmn2r16 T A 5: 109,487,703 (GRCm39) L192* probably null Het
Vnn3 T A 10: 23,741,816 (GRCm39) S374T probably benign Het
Wdr62 A C 7: 29,942,184 (GRCm39) D1089E probably benign Het
Xdh T A 17: 74,193,459 (GRCm39) D1279V probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp518b A G 5: 38,831,123 (GRCm39) I294T possibly damaging Het
Zfp983 G A 17: 21,876,528 (GRCm39) 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
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