Incidental Mutation 'R7352:Exph5'
ID 570664
Institutional Source Beutler Lab
Gene Symbol Exph5
Ensembl Gene ENSMUSG00000034584
Gene Name exophilin 5
Synonyms AC079869.22gm5, Slac2b, slac2-b, B130009M24Rik
MMRRC Submission 045438-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7352 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 53212970-53288814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 53287022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 1368 (I1368L)
Ref Sequence ENSEMBL: ENSMUSP00000062632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051014]
AlphaFold Q0VAV2
Predicted Effect probably benign
Transcript: ENSMUST00000051014
AA Change: I1368L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000062632
Gene: ENSMUSG00000034584
AA Change: I1368L

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C T 17: 24,508,028 (GRCm39) W1124* probably null Het
Acap3 G A 4: 155,990,168 (GRCm39) V783I possibly damaging Het
Alkbh8 A G 9: 3,345,796 (GRCm39) K172R probably damaging Het
Ankrd28 A G 14: 31,429,998 (GRCm39) L860P probably damaging Het
Arap3 G A 18: 38,106,331 (GRCm39) T1504I probably benign Het
Atad5 T C 11: 79,994,169 (GRCm39) probably null Het
Atp8a2 A G 14: 60,028,653 (GRCm39) V938A probably benign Het
AW551984 T C 9: 39,504,221 (GRCm39) M582V probably benign Het
Axdnd1 C T 1: 156,210,047 (GRCm39) V408I possibly damaging Het
Babam2 T A 5: 32,164,594 (GRCm39) Y326* probably null Het
Baiap2l1 T C 5: 144,261,436 (GRCm39) M20V probably benign Het
Bex6 A G 16: 32,005,034 (GRCm39) probably benign Het
Bicc1 G T 10: 70,783,730 (GRCm39) T469K probably benign Het
Cad T A 5: 31,215,422 (GRCm39) S78T probably damaging Het
Ccdc171 T A 4: 83,736,260 (GRCm39) D1210E possibly damaging Het
Ccnd1 T C 7: 144,491,124 (GRCm39) I161V possibly damaging Het
Cdc42bpb A T 12: 111,265,745 (GRCm39) F1396I probably damaging Het
Cep170 A T 1: 176,597,423 (GRCm39) D373E probably benign Het
Chrna4 A T 2: 180,679,267 (GRCm39) I60N probably damaging Het
Cntn2 T C 1: 132,450,137 (GRCm39) T586A probably benign Het
Csmd2 G T 4: 128,451,429 (GRCm39) V3396F Het
Cyp3a44 T A 5: 145,740,498 (GRCm39) L47F probably benign Het
D7Ertd443e A T 7: 133,951,123 (GRCm39) H183Q probably benign Het
Ddx27 T C 2: 166,871,433 (GRCm39) V510A probably benign Het
Dgat1 G T 15: 76,387,024 (GRCm39) C396* probably null Het
Dmpk A G 7: 18,819,997 (GRCm39) S83G probably damaging Het
Dsc2 T G 18: 20,168,392 (GRCm39) D689A probably benign Het
Eppk1 A T 15: 75,990,618 (GRCm39) W2088R probably benign Het
Fadd T C 7: 144,134,396 (GRCm39) K163R probably benign Het
Fam149a T A 8: 45,794,034 (GRCm39) Q759L probably damaging Het
Foxo6 A T 4: 120,125,448 (GRCm39) M449K probably benign Het
Gad1 T C 2: 70,425,094 (GRCm39) F463L probably benign Het
Gad2 T A 2: 22,513,835 (GRCm39) F91I probably benign Het
Gcc2 T C 10: 58,116,520 (GRCm39) probably null Het
Gjd3 A C 11: 102,691,278 (GRCm39) C242G probably damaging Het
Gkn1 T C 6: 87,325,100 (GRCm39) E103G possibly damaging Het
Gm867 T C 10: 75,775,670 (GRCm39) T39A probably benign Het
Gpr108 A G 17: 57,543,944 (GRCm39) Y421H probably damaging Het
Gramd1b A C 9: 40,219,289 (GRCm39) V508G probably damaging Het
Grm1 A T 10: 10,595,237 (GRCm39) I797N probably damaging Het
Ice1 G A 13: 70,754,221 (GRCm39) Q622* probably null Het
Kcnb2 T A 1: 15,780,835 (GRCm39) V569E probably benign Het
Ksr2 T G 5: 117,827,706 (GRCm39) I495S probably benign Het
Litaf A T 16: 10,781,217 (GRCm39) M94K probably damaging Het
Lmod2 T C 6: 24,598,110 (GRCm39) S77P possibly damaging Het
Lrp2 G T 2: 69,302,741 (GRCm39) S2996Y probably benign Het
Ltf T C 9: 110,857,518 (GRCm39) S436P probably benign Het
Map4k4 T A 1: 40,001,387 (GRCm39) V58D unknown Het
Mapkapk3 C A 9: 107,134,269 (GRCm39) D332Y possibly damaging Het
Mroh1 C A 15: 76,335,674 (GRCm39) P1439Q probably benign Het
Ncor1 A G 11: 62,224,737 (GRCm39) V841A probably damaging Het
Nrxn3 A G 12: 88,817,063 (GRCm39) M248V probably benign Het
Olig2 A G 16: 91,023,577 (GRCm39) D97G probably benign Het
Or4a2 C A 2: 89,248,311 (GRCm39) G149W probably damaging Het
Or4a39 T C 2: 89,236,806 (GRCm39) M206V probably benign Het
Or4p8 T A 2: 88,727,062 (GRCm39) N293I probably damaging Het
Or5b95 A G 19: 12,658,115 (GRCm39) I214M possibly damaging Het
Or5g23 T C 2: 85,439,128 (GRCm39) N42S probably damaging Het
Or6f2 A T 7: 139,756,438 (GRCm39) Y135F probably damaging Het
Pcdha11 T A 18: 37,139,898 (GRCm39) V509E probably damaging Het
Pglyrp3 G A 3: 91,921,947 (GRCm39) W5* probably null Het
Phf14 A T 6: 11,961,637 (GRCm39) N425Y probably damaging Het
Phf3 G T 1: 30,843,407 (GRCm39) R1851S possibly damaging Het
Pigs A G 11: 78,219,638 (GRCm39) T39A probably damaging Het
Plin4 A G 17: 56,411,427 (GRCm39) M868T probably benign Het
Pnma2 A G 14: 67,153,870 (GRCm39) Q98R possibly damaging Het
Ppp4r3a G A 12: 101,008,091 (GRCm39) T782I probably damaging Het
Pramel52-ps A T 5: 94,531,743 (GRCm39) N209I probably damaging Het
Prickle2 T G 6: 92,387,871 (GRCm39) E566D probably benign Het
Pvr A G 7: 19,644,541 (GRCm39) I331T possibly damaging Het
Ranbp3l A T 15: 8,997,842 (GRCm39) probably benign Het
Rapgef4 T A 2: 72,010,435 (GRCm39) I331N probably damaging Het
Reg3g C T 6: 78,443,842 (GRCm39) W122* probably null Het
Rigi T A 4: 40,239,668 (GRCm39) Q10L probably benign Het
Rlbp1 A T 7: 79,031,428 (GRCm39) I100N probably damaging Het
Rnf213 T A 11: 119,334,405 (GRCm39) Y3206N Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,133 (GRCm39) probably benign Het
Rtl6 G T 15: 84,441,181 (GRCm39) R72S possibly damaging Het
Rufy3 T A 5: 88,785,053 (GRCm39) D408E possibly damaging Het
Scn3a T C 2: 65,356,045 (GRCm39) I230V possibly damaging Het
Slc23a4 A T 6: 34,925,214 (GRCm39) I507N possibly damaging Het
Slc4a8 A G 15: 100,688,865 (GRCm39) T392A probably damaging Het
Spaca7 T A 8: 12,635,742 (GRCm39) I86K probably benign Het
Syt10 G T 15: 89,698,659 (GRCm39) D228E probably benign Het
Tbx3 T A 5: 119,815,625 (GRCm39) N308K probably benign Het
Telo2 A G 17: 25,321,043 (GRCm39) V724A probably damaging Het
Tfip11 T C 5: 112,481,134 (GRCm39) V370A probably benign Het
Thbs3 A G 3: 89,132,587 (GRCm39) E843G probably benign Het
Tmprss11g T C 5: 86,644,401 (GRCm39) I148V not run Het
Trbv14 T A 6: 41,112,429 (GRCm39) D75E possibly damaging Het
Trio A G 15: 27,732,962 (GRCm39) V2973A probably damaging Het
Ttn T C 2: 76,624,828 (GRCm39) D15250G probably damaging Het
Ubr2 G A 17: 47,241,352 (GRCm39) T1734I probably benign Het
Ush2a G T 1: 188,198,321 (GRCm39) A1462S probably benign Het
Ushbp1 T G 8: 71,841,525 (GRCm39) T435P possibly damaging Het
Vps13c T C 9: 67,747,728 (GRCm39) V7A possibly damaging Het
Wnk4 T C 11: 101,155,244 (GRCm39) V385A probably damaging Het
Wnt2b C T 3: 104,854,493 (GRCm39) V322I probably benign Het
Zbtb8a C T 4: 129,253,874 (GRCm39) V207M probably benign Het
Zc3hav1l A G 6: 38,275,916 (GRCm39) M87T probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- AAGATGCAGGTTGACTCCGC -3'
(R):5'- CTGCACATGTCCCAGAATCTC -3'

Sequencing Primer
(F):5'- AGGTTGACTCCGCTCCATG -3'
(R):5'- TCATCATTATCTTCTGAGCGGG -3'
Posted On 2019-09-13