Mutagenetix > Incidental Mutation

Incidental Mutation 'R4839:Espn'

371613

Institutional Source

Beutler Lab

Gene Symbol

Espn

Ensembl Gene

ENSMUSG00000028943

Gene Name

espin

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R4839 (G1)

Quality Score

171

Status

Not validated

Chromosome

Chromosomal Location

152204788-152236828 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152222961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 306 (Y306H)

Ref Sequence

ENSEMBL: ENSMUSP00000147144 (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

probably damaging
Transcript: ENSMUST00000030785
AA Change: Y306H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030785
Gene: ENSMUSG00000028943
AA Change: Y306H

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: Y208H

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122464
Gene: ENSMUSG00000028943
AA Change: Y208H

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: Y306H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101284
Gene: ENSMUSG00000028943
AA Change: Y306H

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: Y306H

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101283
Gene: ENSMUSG00000028943
AA Change: Y306H

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

probably damaging
Transcript: ENSMUST00000207676
AA Change: Y306H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,226,845 (GRCm39)	S467T	probably benign	Het
2310030G06Rik	A	T	9: 50,652,023 (GRCm39)	Y68*	probably null	Het
Abat	T	G	16: 8,401,512 (GRCm39)		probably benign	Het
Abca2	C	T	2: 25,330,921 (GRCm39)	S1203F	probably damaging	Het
Adam22	G	A	5: 8,186,813 (GRCm39)	P436L	probably damaging	Het
Ak3	A	C	19: 29,025,132 (GRCm39)	L33R	probably damaging	Het
Arhgap11a	A	T	2: 113,672,374 (GRCm39)	I198K	probably damaging	Het
Arl14epl	A	T	18: 47,065,544 (GRCm39)	K103M	possibly damaging	Het
Atg16l1	T	A	1: 87,693,896 (GRCm39)	N65K	probably damaging	Het
Btnl2	G	A	17: 34,584,260 (GRCm39)	W394*	probably null	Het
Cacna1e	C	A	1: 154,296,804 (GRCm39)	R1687L	probably damaging	Het
Cacna1g	G	T	11: 94,350,433 (GRCm39)	R471S	probably benign	Het
Cdh13	A	T	8: 119,578,587 (GRCm39)	R205*	probably null	Het
Cdkl3	A	T	11: 51,895,861 (GRCm39)	Y36F	probably damaging	Het
Cep290	T	A	10: 100,344,648 (GRCm39)	N488K	probably damaging	Het
Cep350	A	T	1: 155,804,240 (GRCm39)	C948S	probably benign	Het
Cep70	A	G	9: 99,178,138 (GRCm39)	K446R	probably benign	Het
Cfap70	T	C	14: 20,475,597 (GRCm39)	T375A	probably damaging	Het
Cfhr1	A	G	1: 139,487,871 (GRCm39)	L9S	probably damaging	Het
Chrm4	T	A	2: 91,757,952 (GRCm39)	M120K	probably damaging	Het
Col1a1	A	G	11: 94,840,921 (GRCm39)		probably null	Het
Col3a1	T	C	1: 45,362,963 (GRCm39)		probably null	Het
Csrnp3	A	T	2: 65,852,375 (GRCm39)	R256*	probably null	Het
Dbf4	T	A	5: 8,458,263 (GRCm39)	K190*	probably null	Het
Dnah10	A	T	5: 124,850,196 (GRCm39)	I1573F	probably damaging	Het
Dock8	A	G	19: 25,146,858 (GRCm39)	I1446V	probably benign	Het
Dst	G	T	1: 34,229,943 (GRCm39)	R2187M	probably damaging	Het
Ece2	C	T	16: 20,449,918 (GRCm39)	R257C	probably damaging	Het
Fkbpl	G	A	17: 34,864,839 (GRCm39)	M202I	probably benign	Het
Fn1	A	G	1: 71,681,242 (GRCm39)	L362P	probably damaging	Het
Ganc	A	C	2: 120,290,304 (GRCm39)	R880S	probably benign	Het
Gucy1b2	A	T	14: 62,685,695 (GRCm39)	L90Q	probably damaging	Het
Hcn1	T	A	13: 118,062,246 (GRCm39)	I504N	unknown	Het
Hdac2	C	A	10: 36,873,462 (GRCm39)	T352K	probably benign	Het
Hip1	T	C	5: 135,455,172 (GRCm39)		probably null	Het
Hspa13	G	A	16: 75,562,169 (GRCm39)	S10L	probably damaging	Het
Ipo5	T	C	14: 121,157,450 (GRCm39)	I96T	probably benign	Het
Isl1	T	C	13: 116,438,220 (GRCm39)	Y264C	probably damaging	Het
Izumo1	T	C	7: 45,275,657 (GRCm39)	I322T	probably benign	Het
Kars1	A	C	8: 112,729,158 (GRCm39)	V183G	possibly damaging	Het
Lrrc15	C	A	16: 30,093,086 (GRCm39)	M84I	probably benign	Het
Magi1	A	T	6: 93,671,177 (GRCm39)	V796E	probably damaging	Het
Matn4	G	T	2: 164,242,896 (GRCm39)	D67E	probably benign	Het
Mertk	A	G	2: 128,624,496 (GRCm39)	M636V	probably damaging	Het
Mettl27	C	A	5: 134,963,266 (GRCm39)	P126T	probably damaging	Het
Mfrp	T	A	9: 44,013,432 (GRCm39)	H52Q	possibly damaging	Het
Mrgprb8	T	G	7: 48,038,656 (GRCm39)	I109R	probably benign	Het
Mroh2a	G	A	1: 88,165,666 (GRCm39)	G512S	probably damaging	Het
Ncoa7	T	A	10: 30,598,655 (GRCm39)	R89S	possibly damaging	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nin	G	T	12: 70,137,325 (GRCm39)	H84N	possibly damaging	Het
Nwd2	A	T	5: 63,962,893 (GRCm39)	I826F	possibly damaging	Het
Or10d1	A	G	9: 39,484,441 (GRCm39)	M38T	probably benign	Het
Or14c43	T	C	7: 86,115,117 (GRCm39)	F166S	probably damaging	Het
Or1j11	G	A	2: 36,312,012 (GRCm39)	V201I	probably benign	Het
Or4l15	C	T	14: 50,197,646 (GRCm39)	M294I	probably benign	Het
Or52a5b	T	C	7: 103,416,961 (GRCm39)	I214M	possibly damaging	Het
Or5k3	A	G	16: 58,969,393 (GRCm39)	Y60C	probably damaging	Het
Or5p73	T	C	7: 108,064,938 (GRCm39)	S136P	probably benign	Het
Otof	C	T	5: 30,576,748 (GRCm39)	R168H	probably damaging	Het
Pcdha6	T	C	18: 37,101,485 (GRCm39)	V226A	possibly damaging	Het
Pggt1b	T	C	18: 46,391,166 (GRCm39)	I200V	possibly damaging	Het
Ppat	G	A	5: 77,098,811 (GRCm39)	Q41*	probably null	Het
Ppfibp2	A	T	7: 107,342,192 (GRCm39)	H27L	probably damaging	Het
Rbm27	T	A	18: 42,460,510 (GRCm39)	I775N	probably damaging	Het
Rnf40	C	T	7: 127,191,812 (GRCm39)	R349*	probably null	Het
Rtp3	A	T	9: 110,818,544 (GRCm39)	W46R	probably damaging	Het
Sass6	C	T	3: 116,403,949 (GRCm39)	R196W	probably damaging	Het
Sel1l	A	T	12: 91,799,932 (GRCm39)	D131E	probably benign	Het
Slain2	T	C	5: 73,106,066 (GRCm39)	S234P	probably damaging	Het
Slc47a1	C	T	11: 61,264,176 (GRCm39)		probably null	Het
Sp140	CAGAAGAAG	CAGAAG	1: 85,538,529 (GRCm39)		probably benign	Het
Spata31e2	T	C	1: 26,724,440 (GRCm39)	T247A	probably benign	Het
Spef2	A	T	15: 9,713,264 (GRCm39)	Y369*	probably null	Het
Spred2	T	A	11: 19,948,233 (GRCm39)	M76K	possibly damaging	Het
Svs5	T	A	2: 164,078,806 (GRCm39)	D367V	probably benign	Het
Tasor2	G	A	13: 3,634,807 (GRCm39)	P667S	probably damaging	Het
Tefm	A	T	11: 80,027,947 (GRCm39)	D270E	probably benign	Het
Tfcp2l1	C	A	1: 118,597,194 (GRCm39)	P425H	probably benign	Het
Thbd	A	T	2: 148,248,591 (GRCm39)	C426S	probably damaging	Het
Timm10b	T	A	7: 105,333,219 (GRCm39)	D968E	probably damaging	Het
Tle2	C	T	10: 81,413,518 (GRCm39)	T119I	probably damaging	Het
Tnik	T	A	3: 28,650,224 (GRCm39)	Y446N	possibly damaging	Het
Tpr	T	A	1: 150,324,948 (GRCm39)	L2400*	probably null	Het
Trrap	T	C	5: 144,782,402 (GRCm39)	F3328S	probably damaging	Het
Vldlr	G	A	19: 27,215,465 (GRCm39)	C154Y	probably damaging	Het
Vmn1r79	T	G	7: 11,910,361 (GRCm39)	M81R	probably benign	Het
Vps13d	T	C	4: 144,812,000 (GRCm39)	T3305A	possibly damaging	Het
Wdr62	T	C	7: 29,970,111 (GRCm39)	E232G	probably damaging	Het
Wdr62	T	A	7: 29,940,890 (GRCm39)	I843F	probably benign	Het
Zfp747l1	T	C	7: 126,984,179 (GRCm39)	S308G	probably benign	Het
Zfp873	T	A	10: 81,896,353 (GRCm39)	H361Q	probably damaging	Het
Zfp949	A	C	9: 88,452,047 (GRCm39)	H539P	probably damaging	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
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

PCR Primer
(F):5'- GGCATCATATCTCTGAACTTCACC -3'
(R):5'- TGCATGACGCTGCTGAGAAC -3'

Sequencing Primer
(F):5'- GAACTTCACCTTTCTCCTTGGTAC -3'
(R):5'- CTGCTGAGAACGGGGAACTG -3'

Posted On

2016-03-01