Incidental Mutation 'R6551:Espn'
ID 543461
Institutional Source Beutler Lab
Gene Symbol Espn
Ensembl Gene ENSMUSG00000028943
Gene Name espin
Synonyms
MMRRC Submission 044676-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.280) question?
Stock # R6551 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 152204788-152236828 bp(-) (GRCm39)
Type of Mutation
DNA Base Change (assembly) T to C at 152213223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s):
AlphaFold Q9ET47
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (41/41)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A T 1: 192,856,831 (GRCm39) Q61L probably damaging Het
Acss2 T C 2: 155,393,128 (GRCm39) S285P probably benign Het
Ager A G 17: 34,818,442 (GRCm39) probably null Het
Alkbh7 T A 17: 57,305,945 (GRCm39) Y115* probably null Het
Brwd1 T C 16: 95,795,162 (GRCm39) D2184G possibly damaging Het
Chp1 T A 2: 119,402,294 (GRCm39) H89Q possibly damaging Het
Clmp T C 9: 40,682,573 (GRCm39) V119A probably benign Het
Cryge A T 1: 65,087,796 (GRCm39) M171K probably benign Het
Cttnbp2nl A T 3: 104,912,433 (GRCm39) S484T possibly damaging Het
Dsg3 C A 18: 20,672,968 (GRCm39) P880T unknown Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxo31 A C 8: 122,291,443 (GRCm39) probably benign Het
Grin2b A G 6: 135,710,342 (GRCm39) V1068A probably damaging Het
Jak1 C A 4: 101,051,040 (GRCm39) probably benign Het
Klra10 A T 6: 130,252,718 (GRCm39) D185E probably benign Het
Lhx1 A C 11: 84,412,739 (GRCm39) D60E probably benign Het
Lyar C A 5: 38,390,616 (GRCm39) A326D probably damaging Het
Muc16 A C 9: 18,473,858 (GRCm39) S1280A possibly damaging Het
Nol9 G A 4: 152,136,325 (GRCm39) V466I possibly damaging Het
Or10d1 C A 9: 39,483,856 (GRCm39) R233L probably benign Het
Or12e8 T C 2: 87,677,005 (GRCm39) V130A possibly damaging Het
Or1e17 T C 11: 73,831,129 (GRCm39) I19T probably benign Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or2w3b A T 11: 58,623,583 (GRCm39) M136K probably damaging Het
Or2y10 G T 11: 49,454,816 (GRCm39) V23L probably benign Het
Pik3c2a A T 7: 116,016,731 (GRCm39) I342N probably damaging Het
Pnldc1 A G 17: 13,124,456 (GRCm39) M133T probably damaging Het
Rab11fip1 G A 8: 27,646,512 (GRCm39) S188L probably damaging Het
Rapgef2 A T 3: 79,122,342 (GRCm39) probably null Het
Rnf103 G A 6: 71,487,349 (GRCm39) C660Y probably damaging Het
Rph3al G A 11: 75,797,372 (GRCm39) S108F possibly damaging Het
Srsf7 A C 17: 80,511,648 (GRCm39) probably benign Het
Ssrp1 A G 2: 84,871,450 (GRCm39) probably null Het
Tamm41 T C 6: 114,989,142 (GRCm39) D284G possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem39b A G 4: 129,585,896 (GRCm39) V25A probably benign Het
Tmem88b G T 4: 155,870,149 (GRCm39) probably benign Het
Unk T C 11: 115,941,550 (GRCm39) W266R probably damaging Het
Usp8 T A 2: 126,575,102 (GRCm39) probably benign Het
Zbtb48 T G 4: 152,106,678 (GRCm39) Q142P probably benign Het
Zdhhc18 T C 4: 133,340,960 (GRCm39) T267A probably benign Het
Zfp335 G A 2: 164,751,285 (GRCm39) P94S probably benign 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
R2014:Espn UTSW 4 152,217,416 (GRCm39) splice 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
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 PCR Primer
(F):5'- AGGGGTACCATTCACATCTCC -3'
(R):5'- AAGGGTCACTGGCTTTGCTG -3'

Sequencing Primer
(F):5'- GGTACCATTCACATCTCCCTCCTG -3'
(R):5'- CACTGGCTTTGCTGATGAAG -3'
Posted On 2019-01-04