Incidental Mutation 'R2014:Espn'
ID 222542
Institutional Source Beutler Lab
Gene Symbol Espn
Ensembl Gene ENSMUSG00000028943
Gene Name espin
Synonyms
MMRRC Submission 040023-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.280) question?
Stock # R2014 (G1)
Quality Score 218
Status Not validated
Chromosome 4
Chromosomal Location 152204788-152236828 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 152217416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030785] [ENSMUST00000049305] [ENSMUST00000070018] [ENSMUST00000080042] [ENSMUST00000084114] [ENSMUST00000103196] [ENSMUST00000105653] [ENSMUST00000207676] [ENSMUST00000105655] [ENSMUST00000105654] [ENSMUST00000105656] [ENSMUST00000105659] [ENSMUST00000105658] [ENSMUST00000135185] [ENSMUST00000105657]
AlphaFold Q9ET47
Predicted Effect probably null
Transcript: ENSMUST00000030785
SMART Domains Protein: ENSMUSP00000030785
Gene: ENSMUSG00000028943

DomainStartEndE-ValueType
ANK 35 64 3.26e0 SMART
ANK 69 99 1.15e0 SMART
ANK 103 133 2.58e-3 SMART
ANK 137 167 1.63e0 SMART
ANK 171 201 4.97e-5 SMART
ANK 205 235 3.08e-1 SMART
ANK 239 268 9.13e-4 SMART
ANK 271 300 2.15e0 SMART
ANK 304 334 2.08e3 SMART
low complexity region 377 395 N/A INTRINSIC
low complexity region 428 465 N/A INTRINSIC
low complexity region 605 629 N/A INTRINSIC
WH2 669 686 4.82e-3 SMART
low complexity region 714 728 N/A INTRINSIC
low complexity region 740 748 N/A INTRINSIC
coiled coil region 772 848 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000049305
SMART Domains Protein: ENSMUSP00000037982
Gene: ENSMUSG00000028943

DomainStartEndE-ValueType
WH2 26 43 4.82e-3 SMART
low complexity region 96 110 N/A INTRINSIC
low complexity region 122 130 N/A INTRINSIC
coiled coil region 154 230 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000070018
SMART Domains Protein: ENSMUSP00000065545
Gene: ENSMUSG00000028943

DomainStartEndE-ValueType
low complexity region 50 68 N/A INTRINSIC
low complexity region 101 138 N/A INTRINSIC
low complexity region 267 291 N/A INTRINSIC
low complexity region 304 313 N/A INTRINSIC
WH2 322 339 4.82e-3 SMART
low complexity region 367 381 N/A INTRINSIC
low complexity region 393 401 N/A INTRINSIC
SCOP:d1eq1a_ 432 499 4e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080042
SMART Domains Protein: ENSMUSP00000078951
Gene: ENSMUSG00000028943

DomainStartEndE-ValueType
low complexity region 50 68 N/A INTRINSIC
low complexity region 101 138 N/A INTRINSIC
low complexity region 186 210 N/A INTRINSIC
WH2 250 267 4.82e-3 SMART
low complexity region 295 309 N/A INTRINSIC
low complexity region 321 329 N/A INTRINSIC
SCOP:d1eq1a_ 360 427 2e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000084114
SMART Domains Protein: ENSMUSP00000081131
Gene: ENSMUSG00000028943

DomainStartEndE-ValueType
low complexity region 50 68 N/A INTRINSIC
low complexity region 101 138 N/A INTRINSIC
low complexity region 267 291 N/A INTRINSIC
WH2 331 348 4.82e-3 SMART
low complexity region 376 390 N/A INTRINSIC
low complexity region 402 410 N/A INTRINSIC
SCOP:d1eq1a_ 441 508 6e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103196
SMART Domains Protein: ENSMUSP00000099485
Gene: ENSMUSG00000028943

DomainStartEndE-ValueType
low complexity region 50 68 N/A INTRINSIC
low complexity region 98 135 N/A INTRINSIC
low complexity region 183 207 N/A INTRINSIC
low complexity region 220 229 N/A INTRINSIC
WH2 238 255 4.82e-3 SMART
low complexity region 283 297 N/A INTRINSIC
low complexity region 309 317 N/A INTRINSIC
SCOP:d1eq1a_ 348 415 2e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105653
SMART Domains Protein: ENSMUSP00000101278
Gene: ENSMUSG00000028943

DomainStartEndE-ValueType
low complexity region 28 52 N/A INTRINSIC
low complexity region 65 74 N/A INTRINSIC
WH2 83 100 4.82e-3 SMART
low complexity region 128 142 N/A INTRINSIC
low complexity region 154 162 N/A INTRINSIC
coiled coil region 186 262 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137937
Predicted Effect probably benign
Transcript: ENSMUST00000207676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148075
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156517
Predicted Effect probably benign
Transcript: ENSMUST00000105655
SMART Domains Protein: ENSMUSP00000101280
Gene: ENSMUSG00000028943

DomainStartEndE-ValueType
low complexity region 50 68 N/A INTRINSIC
low complexity region 98 135 N/A INTRINSIC
low complexity region 183 207 N/A INTRINSIC
WH2 247 264 4.82e-3 SMART
low complexity region 292 306 N/A INTRINSIC
low complexity region 318 326 N/A INTRINSIC
SCOP:d1eq1a_ 357 424 3e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105654
SMART Domains Protein: ENSMUSP00000101279
Gene: ENSMUSG00000028943

DomainStartEndE-ValueType
low complexity region 50 68 N/A INTRINSIC
low complexity region 98 135 N/A INTRINSIC
low complexity region 264 288 N/A INTRINSIC
low complexity region 301 310 N/A INTRINSIC
WH2 319 336 4.82e-3 SMART
low complexity region 364 378 N/A INTRINSIC
low complexity region 390 398 N/A INTRINSIC
SCOP:d1eq1a_ 429 496 6e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105656
SMART Domains Protein: ENSMUSP00000101281
Gene: ENSMUSG00000028943

DomainStartEndE-ValueType
low complexity region 50 68 N/A INTRINSIC
low complexity region 98 135 N/A INTRINSIC
low complexity region 264 288 N/A INTRINSIC
WH2 328 345 4.82e-3 SMART
low complexity region 373 387 N/A INTRINSIC
low complexity region 399 407 N/A INTRINSIC
SCOP:d1eq1a_ 438 505 8e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105659
SMART Domains Protein: ENSMUSP00000101284
Gene: ENSMUSG00000028943

DomainStartEndE-ValueType
ANK 35 64 3.26e0 SMART
ANK 69 99 1.15e0 SMART
ANK 103 133 2.58e-3 SMART
ANK 137 167 1.63e0 SMART
ANK 171 201 4.97e-5 SMART
ANK 205 235 3.08e-1 SMART
ANK 239 268 9.13e-4 SMART
ANK 271 300 2.15e0 SMART
ANK 304 334 2.08e3 SMART
low complexity region 377 395 N/A INTRINSIC
low complexity region 428 465 N/A INTRINSIC
low complexity region 624 648 N/A INTRINSIC
low complexity region 661 670 N/A INTRINSIC
WH2 679 696 4.82e-3 SMART
low complexity region 724 738 N/A INTRINSIC
low complexity region 750 758 N/A INTRINSIC
coiled coil region 782 858 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105658
SMART Domains Protein: ENSMUSP00000101283
Gene: ENSMUSG00000028943

DomainStartEndE-ValueType
ANK 35 64 3.26e0 SMART
ANK 69 99 1.15e0 SMART
ANK 103 133 2.58e-3 SMART
ANK 137 167 1.63e0 SMART
ANK 171 201 4.97e-5 SMART
ANK 205 235 3.08e-1 SMART
ANK 239 268 9.13e-4 SMART
ANK 271 300 2.15e0 SMART
ANK 304 334 2.08e3 SMART
low complexity region 377 395 N/A INTRINSIC
low complexity region 425 462 N/A INTRINSIC
low complexity region 591 615 N/A INTRINSIC
low complexity region 628 637 N/A INTRINSIC
WH2 646 663 4.82e-3 SMART
low complexity region 691 705 N/A INTRINSIC
low complexity region 717 725 N/A INTRINSIC
coiled coil region 749 825 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135185
SMART Domains Protein: ENSMUSP00000122464
Gene: ENSMUSG00000028943

DomainStartEndE-ValueType
ANK 5 35 2.58e-3 SMART
ANK 39 69 1.63e0 SMART
ANK 73 103 4.97e-5 SMART
ANK 107 137 3.08e-1 SMART
ANK 141 170 9.13e-4 SMART
ANK 173 202 2.15e0 SMART
ANK 206 236 2.08e3 SMART
low complexity region 279 297 N/A INTRINSIC
low complexity region 330 367 N/A INTRINSIC
low complexity region 496 520 N/A INTRINSIC
low complexity region 533 542 N/A INTRINSIC
WH2 551 568 4.82e-3 SMART
low complexity region 596 610 N/A INTRINSIC
low complexity region 622 630 N/A INTRINSIC
coiled coil region 654 685 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105657
SMART Domains Protein: ENSMUSP00000101282
Gene: ENSMUSG00000028943

DomainStartEndE-ValueType
low complexity region 50 68 N/A INTRINSIC
low complexity region 101 138 N/A INTRINSIC
low complexity region 186 210 N/A INTRINSIC
low complexity region 223 232 N/A INTRINSIC
WH2 241 258 4.82e-3 SMART
low complexity region 286 300 N/A INTRINSIC
low complexity region 312 320 N/A INTRINSIC
SCOP:d1eq1a_ 351 418 2e-5 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 96% (105/109)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit progressive degeneration of both inner and outer hair cells, severe deafness, vestibular dysfunction, and poor mothering ability. Heterozygotes show a progressive, age-related hearing loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T G 17: 48,347,723 (GRCm39) T194P possibly damaging Het
Aadacl4fm5 A T 4: 144,506,295 (GRCm39) L132Q probably damaging Het
Acsbg2 T A 17: 57,160,855 (GRCm39) K263M possibly damaging Het
Adcy8 C T 15: 64,639,727 (GRCm39) G678S probably benign Het
Adgrl2 C T 3: 148,532,111 (GRCm39) G1041R probably damaging Het
Ahnak T C 19: 8,990,545 (GRCm39) I3943T probably damaging Het
Aire T C 10: 77,878,792 (GRCm39) D85G probably damaging Het
Alkbh8 C T 9: 3,343,216 (GRCm39) Q36* probably null Het
Amer3 T C 1: 34,618,525 (GRCm39) probably benign Het
Angptl8 T C 9: 21,748,358 (GRCm39) probably null Het
Ankmy1 T C 1: 92,812,863 (GRCm39) D482G probably benign Het
Apc A G 18: 34,448,644 (GRCm39) I1813V probably damaging Het
Asb13 T G 13: 3,699,512 (GRCm39) probably null Het
Blm T C 7: 80,152,147 (GRCm39) E600G probably damaging Het
Cd163 G T 6: 124,302,457 (GRCm39) W1007L probably damaging Het
Cdr1 A G X: 60,228,420 (GRCm39) F249L probably benign Het
Cp A G 3: 20,041,598 (GRCm39) K44E probably benign Het
Crtap C A 9: 114,210,653 (GRCm39) probably null Het
Ctsk A G 3: 95,414,003 (GRCm39) D250G probably damaging Het
Dcp2 T C 18: 44,543,363 (GRCm39) V307A probably benign Het
Dnah6 T A 6: 73,150,402 (GRCm39) D787V probably damaging Het
Dtx3l G A 16: 35,756,797 (GRCm39) H129Y probably benign Het
Ece2 A G 16: 20,461,067 (GRCm39) T442A probably benign Het
Espl1 C T 15: 102,231,149 (GRCm39) R17* probably null Het
Fam20b C T 1: 156,533,511 (GRCm39) R35Q possibly damaging Het
Fga A G 3: 82,940,064 (GRCm39) I573V probably damaging Het
Fmo5 A G 3: 97,542,998 (GRCm39) K103E possibly damaging Het
Frem1 A T 4: 82,924,089 (GRCm39) V291D probably damaging Het
Gabbr1 A G 17: 37,367,674 (GRCm39) probably null Het
Gjb6 T C 14: 57,362,213 (GRCm39) H16R probably damaging Het
Grina T C 15: 76,132,734 (GRCm39) V167A probably damaging Het
Gulo T A 14: 66,246,496 (GRCm39) M1L probably benign Het
Hcfc2 A G 10: 82,574,814 (GRCm39) N618D probably benign Het
Heatr5b T C 17: 79,121,613 (GRCm39) D704G probably damaging Het
Hlcs A G 16: 94,063,599 (GRCm39) V487A probably benign Het
Hps1 G A 19: 42,750,951 (GRCm39) P350S probably benign Het
Hspa9 A T 18: 35,079,701 (GRCm39) Y243N probably damaging Het
Igll1 A G 16: 16,681,639 (GRCm39) S39P probably benign Het
Kif21b T C 1: 136,076,020 (GRCm39) F270L probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Krt27 A G 11: 99,240,318 (GRCm39) V200A probably benign Het
Lama3 T C 18: 12,657,778 (GRCm39) probably benign Het
Lmcd1 T C 6: 112,305,702 (GRCm39) W268R probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Mamdc4 T A 2: 25,453,584 (GRCm39) D1195V probably damaging Het
Map2 T C 1: 66,455,295 (GRCm39) V1395A possibly damaging Het
Map3k20 C T 2: 72,268,604 (GRCm39) T537M probably benign Het
Mdga1 A G 17: 30,068,287 (GRCm39) S276P probably damaging Het
Mep1a T C 17: 43,808,797 (GRCm39) N85D probably benign Het
Mettl16 A G 11: 74,708,195 (GRCm39) S425G probably benign Het
Mthfd1l A G 10: 3,997,894 (GRCm39) T622A probably benign Het
Nbeal2 G A 9: 110,463,139 (GRCm39) L1309F probably benign Het
Nde1 A T 16: 13,987,321 (GRCm39) probably benign Het
Nhsl1 A T 10: 18,387,340 (GRCm39) R205W probably damaging Het
Nlrc5 A G 8: 95,252,138 (GRCm39) probably benign Het
Notch3 C A 17: 32,376,974 (GRCm39) E310D probably benign Het
Or2f1 A G 6: 42,721,784 (GRCm39) E271G probably damaging Het
Or4p19 T C 2: 88,242,388 (GRCm39) T205A probably benign Het
Or5ak24 T A 2: 85,260,696 (GRCm39) H159L possibly damaging Het
Or7a39 T C 10: 78,715,222 (GRCm39) I72T possibly damaging Het
Osbpl5 C A 7: 143,295,429 (GRCm39) C11F probably damaging Het
P4hb T C 11: 120,453,522 (GRCm39) E381G probably damaging Het
Pax4 A G 6: 28,446,209 (GRCm39) Y95H probably benign Het
Pdia3 T C 2: 121,265,301 (GRCm39) V390A probably damaging Het
Pigv A C 4: 133,390,034 (GRCm39) D49E possibly damaging Het
Pik3c2a T A 7: 115,950,166 (GRCm39) probably null Het
Plxnb1 T A 9: 108,935,687 (GRCm39) probably benign Het
Polq A G 16: 36,898,728 (GRCm39) T2163A probably damaging Het
Pou5f2 T C 13: 78,173,972 (GRCm39) S305P probably benign Het
Ppm1h A T 10: 122,756,630 (GRCm39) H425L possibly damaging Het
Ppp1r13b G T 12: 111,800,222 (GRCm39) D518E probably benign Het
Prf1 A T 10: 61,139,674 (GRCm39) D544V probably benign Het
Prl3b1 T C 13: 27,431,948 (GRCm39) F158L probably benign Het
Prss41 C T 17: 24,056,464 (GRCm39) probably null Het
Prune2 T G 19: 17,097,887 (GRCm39) N1130K probably damaging Het
Ptgdr2 T C 19: 10,917,789 (GRCm39) F102S probably damaging Het
Ptprq T G 10: 107,503,283 (GRCm39) K792Q probably damaging Het
Pttg1ip2 T A 5: 5,505,964 (GRCm39) I106L probably benign Het
Rcbtb2 T C 14: 73,411,826 (GRCm39) probably benign Het
Rgs14 C A 13: 55,531,513 (GRCm39) S479* probably null Het
Sash1 A T 10: 8,605,177 (GRCm39) V1071D probably benign Het
Sdsl G A 5: 120,601,218 (GRCm39) T18M probably damaging Het
Sepsecs T A 5: 52,804,966 (GRCm39) Q365L probably benign Het
Sh2d4a A T 8: 68,783,735 (GRCm39) Q223L probably damaging Het
Slc14a2 T C 18: 78,193,601 (GRCm39) probably benign Het
Slc5a9 A C 4: 111,753,546 (GRCm39) S52A possibly damaging Het
Slc6a18 C A 13: 73,823,844 (GRCm39) V99L probably benign Het
Smarca2 T C 19: 26,661,305 (GRCm39) S967P possibly damaging Het
Tbc1d22a C T 15: 86,183,885 (GRCm39) T248M probably damaging Het
Tcte1 A T 17: 45,852,237 (GRCm39) N490I probably benign Het
Tet3 T C 6: 83,363,057 (GRCm39) E705G probably damaging Het
Tfeb T A 17: 48,102,484 (GRCm39) H450Q probably damaging Het
Tmem248 G A 5: 130,260,653 (GRCm39) E73K probably damaging Het
Trip12 A T 1: 84,738,587 (GRCm39) L756* probably null Het
Try5 C T 6: 41,291,585 (GRCm39) probably null Het
Tsc1 A T 2: 28,555,649 (GRCm39) probably benign Het
Tspear G A 10: 77,710,954 (GRCm39) probably benign Het
Ttc6 T C 12: 57,623,003 (GRCm39) I134T possibly damaging Het
Ttn T A 2: 76,585,640 (GRCm39) probably null Het
Ube3b A G 5: 114,549,210 (GRCm39) E738G probably damaging Het
Usp36 T C 11: 118,153,334 (GRCm39) probably benign Het
Vmn2r71 T A 7: 85,269,845 (GRCm39) M452K probably benign Het
Vps13b T C 15: 35,607,288 (GRCm39) S1074P probably damaging Het
Vps13d A G 4: 144,835,078 (GRCm39) S2757P probably damaging Het
Vwde C A 6: 13,208,337 (GRCm39) G182C possibly damaging Het
Wdr33 T C 18: 31,966,652 (GRCm39) V164A probably damaging Het
Zkscan16 A G 4: 58,956,525 (GRCm39) Y269C possibly damaging Het
Zup1 A G 10: 33,805,820 (GRCm39) V437A possibly damaging Het
Other mutations in Espn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Espn APN 4 152,220,059 (GRCm39) missense probably damaging 1.00
IGL01404:Espn APN 4 152,222,901 (GRCm39) missense probably benign 0.03
IGL01576:Espn APN 4 152,208,174 (GRCm39) missense probably damaging 1.00
R0015:Espn UTSW 4 152,223,609 (GRCm39) missense possibly damaging 0.77
R1475:Espn UTSW 4 152,218,728 (GRCm39) missense probably damaging 1.00
R1773:Espn UTSW 4 152,212,686 (GRCm39) missense probably damaging 1.00
R1992:Espn UTSW 4 152,213,012 (GRCm39) critical splice acceptor site probably null
R2049:Espn UTSW 4 152,205,714 (GRCm39) missense probably damaging 0.99
R2281:Espn UTSW 4 152,220,002 (GRCm39) missense possibly damaging 0.94
R4278:Espn UTSW 4 152,218,874 (GRCm39) missense probably damaging 1.00
R4527:Espn UTSW 4 152,220,106 (GRCm39) missense probably damaging 0.99
R4539:Espn UTSW 4 152,218,665 (GRCm39) nonsense probably null
R4621:Espn UTSW 4 152,215,709 (GRCm39) missense probably damaging 1.00
R4839:Espn UTSW 4 152,222,961 (GRCm39) missense probably damaging 0.99
R4860:Espn UTSW 4 152,223,303 (GRCm39) missense probably damaging 0.99
R4860:Espn UTSW 4 152,223,303 (GRCm39) missense probably damaging 0.99
R4998:Espn UTSW 4 152,220,040 (GRCm39) missense possibly damaging 0.94
R5412:Espn UTSW 4 152,212,582 (GRCm39) missense probably damaging 1.00
R5570:Espn UTSW 4 152,208,237 (GRCm39) missense probably damaging 1.00
R6549:Espn UTSW 4 152,215,525 (GRCm39) start codon destroyed probably null 0.99
R6551:Espn UTSW 4 152,213,223 (GRCm39)
R7124:Espn UTSW 4 152,215,721 (GRCm39) missense probably benign 0.00
R7838:Espn UTSW 4 152,215,738 (GRCm39) missense possibly damaging 0.95
R7863:Espn UTSW 4 152,236,616 (GRCm39) missense probably damaging 0.99
R8236:Espn UTSW 4 152,233,487 (GRCm39) missense probably damaging 1.00
R8948:Espn UTSW 4 152,223,278 (GRCm39) missense probably damaging 1.00
R9234:Espn UTSW 4 152,217,380 (GRCm39) critical splice donor site probably null
R9550:Espn UTSW 4 152,215,534 (GRCm39) missense probably damaging 0.96
R9607:Espn UTSW 4 152,219,939 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2014-08-25