Incidental Mutation 'R7520:Exph5'
ID 582633
Institutional Source Beutler Lab
Gene Symbol Exph5
Ensembl Gene ENSMUSG00000034584
Gene Name exophilin 5
Synonyms AC079869.22gm5, Slac2b, slac2-b, B130009M24Rik
MMRRC Submission 045592-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7520 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 53212970-53288814 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 53278514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000062632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051014] [ENSMUST00000051014] [ENSMUST00000051014]
AlphaFold Q0VAV2
Predicted Effect probably null
Transcript: ENSMUST00000051014
SMART Domains Protein: ENSMUSP00000062632
Gene: ENSMUSG00000034584

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 probably null
Transcript: ENSMUST00000051014
SMART Domains Protein: ENSMUSP00000062632
Gene: ENSMUSG00000034584

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 probably null
Transcript: ENSMUST00000051014
SMART Domains Protein: ENSMUSP00000062632
Gene: ENSMUSG00000034584

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
Meta Mutation Damage Score 0.9494 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T C 4: 144,281,859 (GRCm39) Y311C probably damaging Het
Abca1 A T 4: 53,078,114 (GRCm39) I886N probably benign Het
Adamts6 A G 13: 104,433,694 (GRCm39) H41R probably benign Het
Adck1 T C 12: 88,425,975 (GRCm39) probably null Het
Atat1 G T 17: 36,208,706 (GRCm39) T398K probably benign Het
Bahcc1 A G 11: 120,167,031 (GRCm39) E1144G possibly damaging Het
Cand2 G T 6: 115,762,212 (GRCm39) E213* probably null Het
Cep350 A G 1: 155,791,375 (GRCm39) S1250P probably benign Het
Cln3 A G 7: 126,180,852 (GRCm39) L63P probably damaging Het
Col4a4 A T 1: 82,484,808 (GRCm39) C486* probably null Het
Ctnnal1 A T 4: 56,837,838 (GRCm39) M264K probably damaging Het
Ddr2 T A 1: 169,812,008 (GRCm39) D738V probably damaging Het
Dnah6 T C 6: 73,104,887 (GRCm39) M1901V probably benign Het
Dnhd1 A G 7: 105,345,255 (GRCm39) T2200A probably benign Het
Dolk A G 2: 30,174,555 (GRCm39) Y497H probably benign Het
Drd5 T C 5: 38,478,195 (GRCm39) V396A probably benign Het
Epsti1 A T 14: 78,200,883 (GRCm39) probably null Het
Erich3 A G 3: 154,468,763 (GRCm39) T1072A unknown Het
Ero1a A T 14: 45,544,032 (GRCm39) N57K probably damaging Het
Frmd5 C T 2: 121,384,745 (GRCm39) probably null Het
H2-Q7 A G 17: 35,661,686 (GRCm39) T310A probably benign Het
Hecw2 G T 1: 53,965,215 (GRCm39) A537E probably benign Het
Itga4 A T 2: 79,131,333 (GRCm39) D567V probably damaging Het
Kcnu1 A T 8: 26,375,368 (GRCm39) N361Y probably damaging Het
Keap1 A G 9: 21,144,787 (GRCm39) S408P probably benign Het
Mamdc4 T A 2: 25,455,360 (GRCm39) I928F possibly damaging Het
Mboat4 T C 8: 34,591,028 (GRCm39) F155S probably benign Het
Mtbp A G 15: 55,440,742 (GRCm39) probably benign Het
Nmi T G 2: 51,842,492 (GRCm39) K200T probably benign Het
Or2n1e G A 17: 38,586,331 (GRCm39) C223Y probably benign Het
Or8g19 G T 9: 39,055,414 (GRCm39) R6L probably benign Het
Pcdha7 G A 18: 37,108,366 (GRCm39) V464M probably damaging Het
Peg10 T A 6: 4,756,796 (GRCm39) N457K unknown Het
Plekha7 A T 7: 115,736,519 (GRCm39) I944N possibly damaging Het
Plpp1 T A 13: 112,937,781 (GRCm39) D13E possibly damaging Het
Pnpla6 G T 8: 3,587,508 (GRCm39) V1070F probably damaging Het
Riox1 T A 12: 83,998,545 (GRCm39) Y360* probably null Het
Sdhb A G 4: 140,693,882 (GRCm39) D50G possibly damaging Het
Slc35f2 T A 9: 53,708,385 (GRCm39) V126D possibly damaging Het
Slmap A G 14: 26,148,575 (GRCm39) V612A probably benign Het
Snap91 T A 9: 86,721,702 (GRCm39) I46F probably damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Taar7b T C 10: 23,876,381 (GRCm39) L182P probably damaging Het
Tmc1 T A 19: 20,776,542 (GRCm39) M606L probably damaging Het
Trpm8 T A 1: 88,271,043 (GRCm39) D444E probably benign Het
Tsen54 A G 11: 115,711,797 (GRCm39) T405A probably damaging Het
Ttll5 T C 12: 85,946,245 (GRCm39) W492R probably damaging Het
Ttn T A 2: 76,728,123 (GRCm39) T5566S unknown Het
Utp20 A T 10: 88,654,457 (GRCm39) M210K probably damaging Het
Zfand1 A G 3: 10,411,009 (GRCm39) V115A 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
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
R7352:Exph5 UTSW 9 53,287,022 (GRCm39) missense probably benign 0.00
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'- ATGCGCATACTTTAGCTAGAGAAG -3'
(R):5'- AGCCTATACGCCTGTCATTC -3'

Sequencing Primer
(F):5'- CCAGTTGCCAGTGTGTTT -3'
(R):5'- ATACGCCTGTCATTCTTTGATCTCAG -3'
Posted On 2019-10-17