Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Espn'

372393

Institutional Source

Beutler Lab

Gene Symbol

Espn

Ensembl Gene

ENSMUSG00000028943

Gene Name

espin

Synonyms

MMRRC Submission

042471-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.280) question?

Stock #

R4860 (G1)

Quality Score

118

Status

Not validated

Chromosome

Chromosomal Location

152204788-152236828 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 152223303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 250 (R250S)

Ref Sequence

ENSEMBL: ENSMUSP00000101284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030785] [ENSMUST00000070018] [ENSMUST00000080042] [ENSMUST00000084114] [ENSMUST00000103196] [ENSMUST00000105654] [ENSMUST00000105655] [ENSMUST00000135185] [ENSMUST00000105659] [ENSMUST00000105658] [ENSMUST00000207676] [ENSMUST00000105656] [ENSMUST00000105657]

AlphaFold

Q9ET47

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030785
AA Change: R250S

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030785
Gene: ENSMUSG00000028943
AA Change: R250S

Domain	Start	End	E-Value	Type
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: ENSMUST00000070018

SMART Domains

Protein: ENSMUSP00000065545
Gene: ENSMUSG00000028943

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: ENSMUST00000105654

SMART Domains

Protein: ENSMUSP00000101279
Gene: ENSMUSG00000028943

Domain	Start	End	E-Value	Type
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: ENSMUST00000105655

SMART Domains

Protein: ENSMUSP00000101280
Gene: ENSMUSG00000028943

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000135185
AA Change: R152S

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122464
Gene: ENSMUSG00000028943
AA Change: R152S

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000105659
AA Change: R250S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101284
Gene: ENSMUSG00000028943
AA Change: R250S

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000105658
AA Change: R250S

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101283
Gene: ENSMUSG00000028943
AA Change: R250S

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000207676
AA Change: R250S

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000105656

SMART Domains

Protein: ENSMUSP00000101281
Gene: ENSMUSG00000028943

Domain	Start	End	E-Value	Type
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: ENSMUST00000105657

SMART Domains

Protein: ENSMUSP00000101282
Gene: ENSMUSG00000028943

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0724

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.3%

Validation Efficiency

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,209,267 (GRCm39)	S466P	possibly damaging	Het
Ablim1	T	C	19: 57,068,298 (GRCm39)	T267A	probably damaging	Het
Acap2	A	T	16: 30,922,317 (GRCm39)	L724Q	possibly damaging	Het
Acsbg3	A	G	17: 57,195,655 (GRCm39)	N684S	probably benign	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agrp	T	C	8: 106,294,000 (GRCm39)	E41G	probably benign	Het
Ajm1	T	C	2: 25,468,765 (GRCm39)	Y382C	probably damaging	Het
Akr1d1	G	A	6: 37,541,426 (GRCm39)	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,220,970 (GRCm39)	R54Q	probably benign	Het
Arhgap45	T	A	10: 79,862,900 (GRCm39)	V692E	probably damaging	Het
Arid5b	G	T	10: 68,078,925 (GRCm39)	N137K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
BC048679	T	C	7: 81,145,468 (GRCm39)	N27D	probably benign	Het
Ccdc78	A	G	17: 26,007,674 (GRCm39)	N237S	probably benign	Het
Cd46	G	A	1: 194,744,704 (GRCm39)	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569 (GRCm39)	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,313 (GRCm39)	E731G	probably damaging	Het
Ctsh	A	G	9: 89,936,601 (GRCm39)	E26G	probably benign	Het
Cul1	G	T	6: 47,494,080 (GRCm39)	K464N	probably benign	Het
Cul1	T	A	6: 47,494,125 (GRCm39)	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,387,006 (GRCm39)	D373E	probably benign	Het
Dhcr7	A	G	7: 143,394,237 (GRCm39)	Q126R	probably benign	Het
Dok2	T	C	14: 71,014,956 (GRCm39)	F228L	probably damaging	Het
Dpep3	T	G	8: 106,702,821 (GRCm39)	I314L	probably benign	Het
Eps8	A	G	6: 137,491,293 (GRCm39)	F362L	probably damaging	Het
Faf1	A	C	4: 109,600,093 (GRCm39)	N163H	probably damaging	Het
Fcho1	C	T	8: 72,163,125 (GRCm39)	V635I	probably benign	Het
Garin5b	C	T	7: 4,760,468 (GRCm39)		probably null	Het
Gask1b	C	A	3: 79,843,981 (GRCm39)	S36*	probably null	Het
Gm7579	G	A	7: 141,765,645 (GRCm39)	C17Y	unknown	Het
Gpx8	G	T	13: 113,182,042 (GRCm39)	Y130*	probably null	Het
Gvin1	A	T	7: 105,762,643 (GRCm39)	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,443,881 (GRCm39)	M30K	probably benign	Het
Iqub	T	C	6: 24,450,841 (GRCm39)	D586G	probably damaging	Het
Klhl25	T	C	7: 75,516,798 (GRCm39)	I568T	probably benign	Het
Larp6	A	G	9: 60,645,093 (GRCm39)	E411G	probably damaging	Het
Lepr	A	C	4: 101,646,534 (GRCm39)	I822L	probably benign	Het
Lrig3	C	A	10: 125,846,921 (GRCm39)	D896E	probably benign	Het
Lrp1	C	T	10: 127,389,693 (GRCm39)	G3114D	probably damaging	Het
Lyset	A	T	12: 102,710,314 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,380,543 (GRCm39)	Y1263N	probably damaging	Het
Mapk10	T	C	5: 103,138,485 (GRCm39)	D180G	probably damaging	Het
Matr3	T	A	18: 35,714,693 (GRCm39)	V113E	probably damaging	Het
Mbd4	A	T	6: 115,825,887 (GRCm39)	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,319,737 (GRCm39)	R238W	probably benign	Het
Mcrip2	G	T	17: 26,083,621 (GRCm39)	T86N	possibly damaging	Het
Mink1	A	G	11: 70,502,418 (GRCm39)	N1043S	probably damaging	Het
Muc4	G	A	16: 32,754,616 (GRCm38)	G1497R	probably benign	Het
Muc4	T	A	16: 32,754,625 (GRCm38)	S1500T	probably benign	Het
Nbeal2	G	A	9: 110,464,262 (GRCm39)	T1128I	probably benign	Het
Nrg2	T	A	18: 36,329,600 (GRCm39)	Y205F	probably damaging	Het
Nubp2	A	G	17: 25,103,430 (GRCm39)	M149T	probably benign	Het
Or4d2b	T	A	11: 87,780,051 (GRCm39)	M224L	probably damaging	Het
Or8d6	G	T	9: 39,853,800 (GRCm39)	M81I	probably benign	Het
Or8j3c	T	C	2: 86,253,301 (GRCm39)	T240A	probably damaging	Het
Pax3	A	G	1: 78,169,093 (GRCm39)	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,343,135 (GRCm39)	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 115,939,391 (GRCm39)	A1649V	probably damaging	Het
Pkhd1l1	T	C	15: 44,400,774 (GRCm39)	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,896,305 (GRCm39)	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,892,012 (GRCm39)	T91A	probably benign	Het
Ptger4	G	T	15: 5,272,087 (GRCm39)	N177K	probably benign	Het
Reln	A	G	5: 22,106,749 (GRCm39)	F3207S	probably benign	Het
Rigi	G	T	4: 40,210,000 (GRCm39)	S644R	probably damaging	Het
Ripk4	C	T	16: 97,552,736 (GRCm39)	R194H	probably damaging	Het
Rnf112	A	T	11: 61,343,570 (GRCm39)	C112S	possibly damaging	Het
Rprd1b	T	G	2: 157,916,855 (GRCm39)	Y278*	probably null	Het
Sel1l	A	G	12: 91,798,376 (GRCm39)	L140P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,532,263 (GRCm39)	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Slmap	A	T	14: 26,181,364 (GRCm39)	V323E	probably benign	Het
Smim6	T	C	11: 115,804,330 (GRCm39)	V39A	probably benign	Het
Sorbs1	T	C	19: 40,325,449 (GRCm39)	T382A	probably benign	Het
Sparc	G	A	11: 55,290,037 (GRCm39)	T218I	possibly damaging	Het
Steap1	A	T	5: 5,786,589 (GRCm39)	F283I	probably damaging	Het
Stil	A	G	4: 114,895,671 (GRCm39)	T586A	probably benign	Het
Tbce	T	A	13: 14,194,380 (GRCm39)	D93V	probably damaging	Het
Tcf12	C	T	9: 71,766,122 (GRCm39)	G504S	probably null	Het
Tex55	A	G	16: 38,648,507 (GRCm39)	S201P	probably damaging	Het
Tle4	A	T	19: 14,441,709 (GRCm39)	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164 (GRCm39)	F254S	probably damaging	Het
Tubgcp3	T	C	8: 12,699,722 (GRCm39)	K377R	probably benign	Het
Ush2a	A	T	1: 188,285,472 (GRCm39)	T2003S	probably benign	Het
Usp53	A	G	3: 122,755,012 (GRCm39)	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 11,886,683 (GRCm39)	L98Q	probably damaging	Het
Vmn2r116	A	C	17: 23,620,777 (GRCm39)	Q837P	probably benign	Het
Vmn2r3	T	C	3: 64,183,022 (GRCm39)	I226V	probably benign	Het
Vmn2r84	T	A	10: 130,221,712 (GRCm39)	D836V	probably damaging	Het
Vps13d	A	G	4: 144,813,731 (GRCm39)	F165L	probably benign	Het
Vstm4	A	G	14: 32,585,742 (GRCm39)	E103G	possibly damaging	Het
Zfp870	A	T	17: 33,102,314 (GRCm39)	C339*	probably null	Het

Other mutations in Espn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

PCR Primer
(F):5'- TTCAGAGAAGCTGCGAGGAC -3'
(R):5'- ACAACCCAGTCTTGGTGTGG -3'

Sequencing Primer
(F):5'- ACAGCGTCCCAGTCTCC -3'
(R):5'- TGGTGAGCTGAGGACCAC -3'

Posted On

2016-03-01