Incidental Mutation 'R2012:Exph5'
ID 219967
Institutional Source Beutler Lab
Gene Symbol Exph5
Ensembl Gene ENSMUSG00000034584
Gene Name exophilin 5
Synonyms AC079869.22gm5, Slac2b, slac2-b, B130009M24Rik
MMRRC Submission 040021-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2012 (G1)
Quality Score 161
Status Not validated
Chromosome 9
Chromosomal Location 53212970-53288814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 53278466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 192 (M192I)
Ref Sequence ENSEMBL: ENSMUSP00000062632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051014]
AlphaFold Q0VAV2
Predicted Effect possibly damaging
Transcript: ENSMUST00000051014
AA Change: M192I

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000062632
Gene: ENSMUSG00000034584
AA Change: M192I

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.6%
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: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 A T 5: 8,167,634 (GRCm39) S675R probably damaging Het
Akap5 A T 12: 76,376,122 (GRCm39) H518L possibly damaging Het
Ankfn1 T C 11: 89,296,423 (GRCm39) D102G probably damaging Het
Aox3 A T 1: 58,177,391 (GRCm39) Y202F probably benign Het
Arhgef37 G A 18: 61,637,427 (GRCm39) L412F possibly damaging Het
B4galt3 C T 1: 171,100,118 (GRCm39) P121L probably damaging Het
BC034090 C T 1: 155,097,178 (GRCm39) R640Q probably damaging Het
Bhmt A T 13: 93,761,900 (GRCm39) Y128N probably damaging Het
Bin3 A G 14: 70,372,222 (GRCm39) E173G probably damaging Het
C1qtnf1 T A 11: 118,339,110 (GRCm39) F260Y probably benign Het
Ccdc14 G T 16: 34,511,092 (GRCm39) G22V possibly damaging Het
Ccnc A T 4: 21,741,955 (GRCm39) I135L possibly damaging Het
Chd3 T C 11: 69,239,878 (GRCm39) D1650G probably benign Het
Cherp A C 8: 73,228,613 (GRCm39) N14K probably damaging Het
Clint1 C T 11: 45,784,919 (GRCm39) T306I possibly damaging Het
Cyb5r1 T A 1: 134,335,315 (GRCm39) Y85N probably damaging Het
D830013O20Rik A G 12: 73,418,162 (GRCm39) noncoding transcript Het
Dapk1 A T 13: 60,869,671 (GRCm39) K304N probably damaging Het
Dnah6 T A 6: 73,044,449 (GRCm39) N3169Y probably damaging Het
Dync2h1 A T 9: 7,169,589 (GRCm39) I296K probably benign Het
Elp2 A T 18: 24,764,515 (GRCm39) T621S probably benign Het
Eml6 G T 11: 29,781,128 (GRCm39) Q635K possibly damaging Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Gas6 C T 8: 13,518,266 (GRCm39) V523M probably damaging Het
Ggn A T 7: 28,873,188 (GRCm39) probably null Het
Gimap8 A G 6: 48,633,287 (GRCm39) T369A probably damaging Het
Grm5 T C 7: 87,724,080 (GRCm39) I790T probably damaging Het
Gtpbp6 G A 5: 110,252,790 (GRCm39) A354V probably damaging Het
Habp4 G A 13: 64,317,995 (GRCm39) probably null Het
Has2 A G 15: 56,531,264 (GRCm39) W484R probably damaging Het
Herc4 G T 10: 63,079,817 (GRCm39) probably benign Het
Igf2 C A 7: 142,208,136 (GRCm39) E106D probably damaging Het
Il17rb A T 14: 29,718,797 (GRCm39) C428* probably null Het
Ipo11 A T 13: 107,056,130 (GRCm39) N47K probably benign Het
Itga4 T G 2: 79,108,138 (GRCm39) S197A probably damaging Het
Itpr1 T A 6: 108,417,497 (GRCm39) M1788K probably benign Het
Kbtbd3 C T 9: 4,330,919 (GRCm39) T431I probably benign Het
Kif5a A T 10: 127,075,044 (GRCm39) V523E probably benign Het
Klhl41 A T 2: 69,513,840 (GRCm39) D573V possibly damaging Het
Kndc1 C A 7: 139,501,196 (GRCm39) H828Q possibly damaging Het
Leng8 T A 7: 4,146,609 (GRCm39) V407D probably damaging Het
Mamdc2 C T 19: 23,288,215 (GRCm39) E608K probably benign Het
Mcf2 T A X: 59,122,574 (GRCm39) R850S probably damaging Het
Mmp2 A G 8: 93,576,831 (GRCm39) N618S probably benign Het
Morn5 A T 2: 35,942,950 (GRCm39) M17L probably benign Het
Nme8 T C 13: 19,881,053 (GRCm39) N26S probably damaging Het
Nostrin C A 2: 68,975,111 (GRCm39) probably null Het
Npy4r T A 14: 33,869,154 (GRCm39) I45F possibly damaging Het
Or13a21 T A 7: 139,999,024 (GRCm39) I221F probably damaging Het
Or1j11 A G 2: 36,311,931 (GRCm39) I174V probably benign Het
Or2aj5 C T 16: 19,424,881 (GRCm39) C179Y probably benign Het
Or2w1 T A 13: 21,317,659 (GRCm39) M238K probably benign Het
Or2w3b T C 11: 58,623,214 (GRCm39) Y259C possibly damaging Het
Or4a70 A G 2: 89,324,342 (GRCm39) F105L probably benign Het
Or5d36 A G 2: 87,901,063 (GRCm39) V221A probably benign Het
Oxt A G 2: 130,418,572 (GRCm39) D61G probably damaging Het
Patl1 T C 19: 11,917,181 (GRCm39) L676P probably damaging Het
Pcdhb20 G A 18: 37,638,127 (GRCm39) G218R probably damaging Het
Pdgfrb T A 18: 61,194,566 (GRCm39) S114R probably benign Het
Pfdn5 A G 15: 102,234,956 (GRCm39) N54S possibly damaging Het
Phldb1 G T 9: 44,639,333 (GRCm39) T15N possibly damaging Het
Pink1 A C 4: 138,045,316 (GRCm39) S253A probably null Het
Plag1 A T 4: 3,904,870 (GRCm39) L107Q probably damaging Het
Pld5 C A 1: 175,791,579 (GRCm39) V476L probably benign Het
Pramel28 A T 4: 143,692,637 (GRCm39) D121E probably benign Het
Prrt2 C T 7: 126,618,581 (GRCm39) A295T probably damaging Het
Ptgs1 A G 2: 36,127,668 (GRCm39) I76V probably benign Het
Ptprz1 A G 6: 23,001,026 (GRCm39) T1039A probably benign Het
Rbm20 G A 19: 53,847,859 (GRCm39) C1135Y probably damaging Het
Recql5 A T 11: 115,787,923 (GRCm39) N465K probably benign Het
Rgs12 A G 5: 35,187,872 (GRCm39) S510G probably benign Het
Satb1 G A 17: 52,089,816 (GRCm39) Q344* probably null Het
Sdr16c5 A G 4: 3,996,244 (GRCm39) I283T probably benign Het
Serpinb3c T C 1: 107,199,574 (GRCm39) S316G possibly damaging Het
Siglec1 A T 2: 130,925,277 (GRCm39) Y395N probably damaging Het
Simc1 A G 13: 54,651,701 (GRCm39) I5V probably benign Het
Slc27a2 T C 2: 126,395,535 (GRCm39) V154A probably damaging Het
Slc27a5 A G 7: 12,731,634 (GRCm39) L119S probably damaging Het
Slc35g2 T A 9: 100,435,120 (GRCm39) T184S possibly damaging Het
Slc4a7 C T 14: 14,733,727 (GRCm38) R46* probably null Het
Smcr8 T C 11: 60,669,010 (GRCm39) F53L probably damaging Het
Spag9 T A 11: 93,983,201 (GRCm39) L504* probably null Het
Spata31d1a A G 13: 59,850,370 (GRCm39) I586T possibly damaging Het
Spata31d1c A T 13: 65,183,041 (GRCm39) E194D possibly damaging Het
Spats2 A G 15: 99,076,375 (GRCm39) E151G probably damaging Het
Sugp2 T A 8: 70,695,861 (GRCm39) L278Q possibly damaging Het
Sult2a7 T A 7: 14,207,322 (GRCm39) probably benign Het
Syde2 G T 3: 145,694,163 (GRCm39) G137V possibly damaging Het
Synj1 A T 16: 90,735,584 (GRCm39) F1456L probably damaging Het
Szt2 A G 4: 118,220,862 (GRCm39) probably benign Het
Timd4 C A 11: 46,710,857 (GRCm39) T253K possibly damaging Het
Tlr3 G T 8: 45,855,823 (GRCm39) T119N possibly damaging Het
Tmc6 A G 11: 117,660,232 (GRCm39) Y669H probably damaging Het
Tmem221 T C 8: 72,008,458 (GRCm39) E194G probably benign Het
Tmem232 C A 17: 65,807,167 (GRCm39) V9F probably benign Het
Tpm1 G A 9: 66,941,247 (GRCm39) Q135* probably null Het
Trank1 A G 9: 111,194,096 (GRCm39) T707A probably benign Het
Trpm7 A T 2: 126,665,917 (GRCm39) Y896* probably null Het
Tuba4a A T 1: 75,192,983 (GRCm39) Y210* probably null Het
Tut7 A G 13: 59,959,352 (GRCm39) V372A probably damaging Het
Vegfa T G 17: 46,336,284 (GRCm39) I279L probably benign Het
Vmn2r54 T A 7: 12,349,804 (GRCm39) T593S probably damaging Het
Vmn2r93 A G 17: 18,536,840 (GRCm39) I508V probably benign Het
Vps33a G T 5: 123,669,244 (GRCm39) probably null Het
Wasl T A 6: 24,624,360 (GRCm39) N231I probably damaging Het
Zbtb39 A G 10: 127,578,703 (GRCm39) N426D probably benign Het
Zeb2 T G 2: 44,887,962 (GRCm39) H350P probably damaging Het
Zfp112 T C 7: 23,824,725 (GRCm39) F231S possibly damaging Het
Zfp180 T C 7: 23,803,943 (GRCm39) S121P 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
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'- TTCTGGGAGAACATGCGCATAC -3'
(R):5'- TACCAGCCTATACGCCTGTC -3'

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