Incidental Mutation 'R1993:Exph5'
ID 223924
Institutional Source Beutler Lab
Gene Symbol Exph5
Ensembl Gene ENSMUSG00000034584
Gene Name exophilin 5
Synonyms AC079869.22gm5, Slac2b, slac2-b, B130009M24Rik
MMRRC Submission 040004-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1993 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 53212970-53288814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53284935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 672 (H672L)
Ref Sequence ENSEMBL: ENSMUSP00000062632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051014]
AlphaFold Q0VAV2
Predicted Effect possibly damaging
Transcript: ENSMUST00000051014
AA Change: H672L

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000062632
Gene: ENSMUSG00000034584
AA Change: H672L

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T G 5: 8,871,322 (GRCm39) I292S possibly damaging Het
Abcc4 T C 14: 118,763,694 (GRCm39) N1047S probably benign Het
Abcc8 G T 7: 45,766,847 (GRCm39) probably null Het
Akap9 T A 5: 4,088,520 (GRCm39) probably null Het
Alox5 T A 6: 116,392,424 (GRCm39) I366F probably damaging Het
Amn A G 12: 111,242,526 (GRCm39) N447S probably damaging Het
Ankrd22 A T 19: 34,143,174 (GRCm39) M1K probably null Het
Asic1 G T 15: 99,569,765 (GRCm39) G29C probably damaging Het
Atxn7l1 A G 12: 33,395,976 (GRCm39) N235S probably benign Het
AY358078 T A 14: 52,063,519 (GRCm39) D388E probably damaging Het
Bod1l A G 5: 41,974,679 (GRCm39) S2212P probably damaging Het
Cacna1e T A 1: 154,353,563 (GRCm39) Q423L probably damaging Het
Calu T C 6: 29,366,974 (GRCm39) I62T possibly damaging Het
Cars2 A G 8: 11,564,515 (GRCm39) V75A probably benign Het
Catsperb T A 12: 101,569,026 (GRCm39) N899K possibly damaging Het
Ccdc50 T A 16: 27,228,089 (GRCm39) C86* probably null Het
Cdh5 G T 8: 104,864,447 (GRCm39) L469F probably damaging Het
Clrn3 A T 7: 135,115,848 (GRCm39) D167E probably benign Het
Csmd1 A T 8: 16,396,698 (GRCm39) C411S probably damaging Het
Dchs1 A T 7: 105,411,755 (GRCm39) S1454T probably benign Het
Ddx20 G A 3: 105,586,660 (GRCm39) Q562* probably null Het
Dgkg T G 16: 22,419,344 (GRCm39) Y52S probably damaging Het
Dhx58 T C 11: 100,594,316 (GRCm39) probably null Het
Dpp6 A T 5: 27,604,004 (GRCm39) I145L probably benign Het
Efna2 A T 10: 80,022,711 (GRCm39) Y85F possibly damaging Het
Eif3a C T 19: 60,769,954 (GRCm39) V127I probably benign Het
Fam131b T C 6: 42,297,818 (GRCm39) T112A possibly damaging Het
Fcgr1 A T 3: 96,193,184 (GRCm39) V271E probably damaging Het
Fgfr4 A G 13: 55,313,715 (GRCm39) D508G probably damaging Het
Fndc3b A G 3: 27,473,549 (GRCm39) M1172T probably benign Het
Fryl G T 5: 73,265,836 (GRCm39) T495K probably damaging Het
Garin5b A T 7: 4,761,017 (GRCm39) V565E probably damaging Het
Gm5134 A T 10: 75,802,227 (GRCm39) I93F probably damaging Het
Gpbar1 G A 1: 74,318,603 (GRCm39) G282D possibly damaging Het
Gria2 G A 3: 80,709,664 (GRCm39) L10F probably benign Het
Grm7 T C 6: 111,184,769 (GRCm39) Y367H probably benign Het
H1f9 T A 11: 94,858,858 (GRCm39) V51E probably damaging Het
Hivep1 G A 13: 42,310,969 (GRCm39) A1070T probably benign Het
Il33 A G 19: 29,934,304 (GRCm39) D155G possibly damaging Het
Kdm6b T C 11: 69,297,129 (GRCm39) S408G probably null Het
Kntc1 A G 5: 123,948,874 (GRCm39) probably null Het
Kntc1 G A 5: 123,897,162 (GRCm39) probably null Het
Ltbp2 T G 12: 84,855,220 (GRCm39) probably null Het
Mapk8ip3 G T 17: 25,133,562 (GRCm39) L83I probably damaging Het
Meltf C A 16: 31,711,440 (GRCm39) Y554* probably null Het
Mov10 A C 3: 104,706,735 (GRCm39) F725C probably damaging Het
Ms4a6d A C 19: 11,567,523 (GRCm39) L18R probably damaging Het
Naip2 T C 13: 100,298,515 (GRCm39) N507S probably benign Het
Nodal A G 10: 61,254,113 (GRCm39) Q12R probably benign Het
Npy6r T C 18: 44,409,575 (GRCm39) L332P probably damaging Het
Nrxn3 A G 12: 89,227,181 (GRCm39) K272R possibly damaging Het
Obox2 G T 7: 15,131,174 (GRCm39) K93N probably benign Het
Or10j27 C T 1: 172,958,418 (GRCm39) R122H possibly damaging Het
Or51a6 G T 7: 102,603,953 (GRCm39) P285Q probably damaging Het
Or5b112 A G 19: 13,319,178 (GRCm39) T19A possibly damaging Het
Or5w13 C T 2: 87,523,777 (GRCm39) V150M probably benign Het
Pcdh12 T A 18: 38,415,196 (GRCm39) D643V possibly damaging Het
Pcsk2 A G 2: 143,529,539 (GRCm39) D112G probably benign Het
Pms1 A G 1: 53,234,174 (GRCm39) S781P probably benign Het
Prtg A G 9: 72,752,178 (GRCm39) D188G probably benign Het
Psg21 A T 7: 18,388,695 (GRCm39) N132K probably benign Het
Psip1 A G 4: 83,400,769 (GRCm39) V25A probably damaging Het
Psmd13 T A 7: 140,478,107 (GRCm39) I319N probably damaging Het
Ptges2 A G 2: 32,290,104 (GRCm39) T173A probably benign Het
Ptprm G A 17: 67,054,155 (GRCm39) R975W probably damaging Het
Rdh1 A G 10: 127,601,214 (GRCm39) D254G probably benign Het
Rnf138 T G 18: 21,157,540 (GRCm39) N212K probably damaging Het
Serpine2 A G 1: 79,799,159 (GRCm39) S32P probably damaging Het
Serpini1 G T 3: 75,521,971 (GRCm39) W154L probably damaging Het
Sf3a1 C A 11: 4,129,177 (GRCm39) Q713K possibly damaging Het
Sgo2b A T 8: 64,379,867 (GRCm39) H988Q probably benign Het
Sin3a T C 9: 57,008,483 (GRCm39) F468L probably damaging Het
Slamf6 A T 1: 171,761,776 (GRCm39) I66F possibly damaging Het
Slc22a28 A T 19: 8,094,488 (GRCm39) C178S possibly damaging Het
Slc35a1 A C 4: 34,675,181 (GRCm39) V119G probably damaging Het
Slc39a12 A T 2: 14,439,030 (GRCm39) H428L probably damaging Het
Speer2 A G 16: 69,654,965 (GRCm39) S167P probably benign Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Spsb2 T C 6: 124,786,329 (GRCm39) probably null Het
Stam2 A T 2: 52,593,168 (GRCm39) Y341* probably null Het
Sv2b G A 7: 74,856,089 (GRCm39) A67V probably benign Het
Svep1 A G 4: 58,064,170 (GRCm39) probably null Het
Syt15 A T 14: 33,944,969 (GRCm39) Q172L probably benign Het
T G A 17: 8,660,634 (GRCm39) S415N probably benign Het
Tep1 A G 14: 51,061,641 (GRCm39) F2625S possibly damaging Het
Tex14 T C 11: 87,427,581 (GRCm39) V11A possibly damaging Het
Tiam2 A T 17: 3,465,401 (GRCm39) R377* probably null Het
Tirap A G 9: 35,102,312 (GRCm39) probably null Het
Tm4sf20 T C 1: 82,737,938 (GRCm39) T118A probably benign Het
Trank1 A T 9: 111,207,900 (GRCm39) Q1715L probably benign Het
Trpm2 C T 10: 77,783,823 (GRCm39) V217M probably damaging Het
Ubap1l G A 9: 65,279,078 (GRCm39) E126K possibly damaging Het
Urgcp G T 11: 5,666,526 (GRCm39) P604Q probably damaging Het
Vmn1r63 A G 7: 5,806,254 (GRCm39) V126A probably benign Het
Vmn2r90 T C 17: 17,933,525 (GRCm39) C362R probably damaging Het
Vmn2r96 A G 17: 18,804,138 (GRCm39) I271V probably damaging Het
Vps13a A T 19: 16,699,822 (GRCm39) I740K probably benign Het
Vps13c A G 9: 67,883,138 (GRCm39) T3562A probably damaging Het
Wdr91 T A 6: 34,869,297 (GRCm39) H409L probably damaging Het
Wnt7a T A 6: 91,342,938 (GRCm39) T315S possibly damaging Het
Zfp616 A G 11: 73,975,795 (GRCm39) H688R probably benign Het
Zfp763 A T 17: 33,237,413 (GRCm39) H577Q probably damaging Het
Zfp808 G A 13: 62,320,721 (GRCm39) S650N probably benign Het
Zfp977 A T 7: 42,229,409 (GRCm39) M372K 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
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
Predicted Primers PCR Primer
(F):5'- GCTCAGACTCCAGCATCTTC -3'
(R):5'- CCTGTCATTTTGGGCTGAGTCC -3'

Sequencing Primer
(F):5'- AGACTCCAGCATCTTCATTCAG -3'
(R):5'- CCCGAGAGTGGGCATTTTGAAAATC -3'
Posted On 2014-08-25