Mutagenetix > Incidental Mutation

Incidental Mutation 'R7863:Espn'

607639

Institutional Source

Beutler Lab

Gene Symbol

Espn

Ensembl Gene

ENSMUSG00000028943

Gene Name

espin

Synonyms

MMRRC Submission

045916-MU

Accession Numbers

Essential gene?

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

Stock #

R7863 (G1)

Quality Score

148.008

Status

Not validated

Chromosome

Chromosomal Location

152204788-152236828 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 152236616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 17 (V17M)

Ref Sequence

ENSEMBL: ENSMUSP00000030785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030785] [ENSMUST00000105658] [ENSMUST00000105659] [ENSMUST00000135185] [ENSMUST00000207676]

AlphaFold

Q9ET47

Predicted Effect

probably damaging
Transcript: ENSMUST00000030785
AA Change: V17M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030785
Gene: ENSMUSG00000028943
AA Change: V17M

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 damaging
Transcript: ENSMUST00000105658
AA Change: V17M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101283
Gene: ENSMUSG00000028943
AA Change: V17M

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: ENSMUST00000105659
AA Change: V17M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101284
Gene: ENSMUSG00000028943
AA Change: V17M

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

probably benign
Transcript: ENSMUST00000135185

SMART Domains

Protein: ENSMUSP00000122464
Gene: ENSMUSG00000028943

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: ENSMUST00000207676
AA Change: V17M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,838,101 (GRCm39)	S829P	probably benign	Het
Abca1	A	T	4: 53,107,179 (GRCm39)	F183I	probably benign	Het
Abca12	A	T	1: 71,332,656 (GRCm39)	M1235K	probably damaging	Het
Abca7	A	G	10: 79,844,655 (GRCm39)	D1488G	probably damaging	Het
Adgrl3	A	G	5: 81,660,596 (GRCm39)	Y387C	probably damaging	Het
Adnp	T	C	2: 168,031,270 (GRCm39)	K14E	possibly damaging	Het
Ago3	T	C	4: 126,243,990 (GRCm39)	R721G	possibly damaging	Het
Aldh3b3	T	A	19: 4,015,322 (GRCm39)	Y196*	probably null	Het
Alox12b	T	C	11: 69,057,753 (GRCm39)	W506R	probably damaging	Het
Arid4b	A	G	13: 14,338,734 (GRCm39)	I402V	probably benign	Het
Cep55	C	T	19: 38,046,247 (GRCm39)		probably benign	Het
Chl1	A	G	6: 103,683,475 (GRCm39)	N767S	possibly damaging	Het
Cldn6	A	G	17: 23,900,096 (GRCm39)	N20S	probably benign	Het
Col23a1	A	T	11: 51,463,597 (GRCm39)	I420F	probably damaging	Het
Cxcr6	G	A	9: 123,639,914 (GRCm39)	R312Q	probably damaging	Het
Cyp4a10	T	C	4: 115,375,622 (GRCm39)	V35A	probably benign	Het
Def6	A	G	17: 28,446,841 (GRCm39)	N548D	possibly damaging	Het
Dock6	A	G	9: 21,757,954 (GRCm39)	V50A	possibly damaging	Het
Epha8	T	A	4: 136,660,966 (GRCm39)	I639F	probably damaging	Het
Ephx2	T	A	14: 66,344,692 (GRCm39)	R211*	probably null	Het
Ezr	A	G	17: 7,008,863 (GRCm39)	L403P	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Golm1	T	C	13: 59,797,383 (GRCm39)	Y154C	probably damaging	Het
Gpam	A	G	19: 55,059,388 (GRCm39)	Y820H	probably damaging	Het
Gpr12	T	C	5: 146,520,370 (GRCm39)	D184G	possibly damaging	Het
Gpr87	C	T	3: 59,087,317 (GRCm39)	A63T	probably damaging	Het
Hmx2	G	T	7: 131,156,082 (GRCm39)	G16V	probably benign	Het
Hspg2	T	C	4: 137,292,135 (GRCm39)	V4009A	probably benign	Het
Iglc3	T	C	16: 18,884,248 (GRCm39)	D61G	not run	Het
Ikzf2	G	T	1: 69,609,796 (GRCm39)	Q144K	possibly damaging	Het
Il1rap	C	T	16: 26,495,461 (GRCm39)	R23C	probably damaging	Het
Kctd9	T	A	14: 67,967,166 (GRCm39)	D161E	possibly damaging	Het
Klhl8	T	C	5: 104,019,968 (GRCm39)	N351S	probably benign	Het
Krt28	G	A	11: 99,255,999 (GRCm39)	T420I	possibly damaging	Het
Marchf7	T	A	2: 60,071,366 (GRCm39)	H623Q	probably benign	Het
Max	A	G	12: 76,986,848 (GRCm39)	I63T	probably damaging	Het
Mrpl28	T	A	17: 26,343,615 (GRCm39)	V125E	possibly damaging	Het
Mtmr10	T	A	7: 63,969,205 (GRCm39)	D322E	probably benign	Het
Mtrex	T	C	13: 113,045,435 (GRCm39)	T366A	probably benign	Het
Nlrp4f	A	T	13: 65,342,059 (GRCm39)	Y529N	possibly damaging	Het
Nlrx1	A	G	9: 44,176,509 (GRCm39)	I31T	probably benign	Het
Oaz2	G	A	9: 65,596,449 (GRCm39)	R171Q	possibly damaging	Het
Or4c121	T	G	2: 89,024,295 (GRCm39)	I28L	probably benign	Het
Or5a1	T	G	19: 12,097,974 (GRCm39)	D34A	possibly damaging	Het
Or5t16	T	G	2: 86,819,424 (GRCm39)	Y32S	probably damaging	Het
Pcdhgc4	T	A	18: 37,951,027 (GRCm39)	Y814*	probably null	Het
Pcm1	T	A	8: 41,714,163 (GRCm39)	I243K	probably damaging	Het
Pdcd11	A	T	19: 47,085,403 (GRCm39)	N171I	probably damaging	Het
Phf20l1	T	A	15: 66,487,084 (GRCm39)	V400E	possibly damaging	Het
Pira13	C	T	7: 3,827,801 (GRCm39)		probably null	Het
Psg28	T	A	7: 18,162,042 (GRCm39)	T154S	possibly damaging	Het
Ptgs2	T	A	1: 149,977,090 (GRCm39)	M99K	probably damaging	Het
Ptprh	T	A	7: 4,606,097 (GRCm39)	M1L	probably benign	Het
Rbp4	T	C	19: 38,112,546 (GRCm39)	T140A	possibly damaging	Het
Rhbdd3	G	A	11: 5,053,236 (GRCm39)	R12Q	probably benign	Het
Saal1	T	C	7: 46,342,327 (GRCm39)	N372S	probably benign	Het
Satb1	T	C	17: 52,112,350 (GRCm39)	E88G	possibly damaging	Het
Shfl	G	A	9: 20,782,672 (GRCm39)	A79T	possibly damaging	Het
Slc49a3	A	T	5: 108,593,400 (GRCm39)	L146Q	probably damaging	Het
Slc6a9	G	T	4: 117,721,207 (GRCm39)	C319F	probably damaging	Het
Smc6	T	G	12: 11,339,130 (GRCm39)	V322G	probably benign	Het
Snrnp200	T	A	2: 127,073,609 (GRCm39)	F1336I	probably damaging	Het
Spg7	T	A	8: 123,815,788 (GRCm39)		probably null	Het
Stab2	G	A	10: 86,808,745 (GRCm39)	T188I	probably benign	Het
Tbata	A	G	10: 61,011,521 (GRCm39)	E19G	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Ticrr	T	C	7: 79,331,760 (GRCm39)	V757A	possibly damaging	Het
Tle1	T	C	4: 72,059,529 (GRCm39)	S261G	probably null	Het
Tlr3	T	A	8: 45,850,774 (GRCm39)	I708L	probably benign	Het
Tph2	A	C	10: 114,915,906 (GRCm39)	S422R	probably damaging	Het
Trim26	A	G	17: 37,161,664 (GRCm39)	T28A	probably damaging	Het
Trmt10c	A	G	16: 55,855,554 (GRCm39)	L27S	probably benign	Het
Tubb6	T	C	18: 67,534,790 (GRCm39)	S230P	probably damaging	Het
Usf1	C	T	1: 171,245,385 (GRCm39)	Q266*	probably null	Het
Vegfa	A	G	17: 46,336,461 (GRCm39)	F220L	probably damaging	Het
Vmn2r105	C	T	17: 20,428,937 (GRCm39)	C713Y	probably benign	Het
Vmn2r17	T	A	5: 109,568,035 (GRCm39)	S53T	probably benign	Het
Xirp2	A	T	2: 67,343,074 (GRCm39)	T1772S	probably benign	Het
Zfp462	T	C	4: 55,007,747 (GRCm39)	I62T	probably benign	Het
Zfp516	T	A	18: 83,019,453 (GRCm39)	I1157N	probably benign	Het
Zfp819	C	A	7: 43,267,316 (GRCm39)	Q600K	probably benign	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
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
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'- CTTAGAGTGGACTCACCTGC -3'
(R):5'- TGCAGAGCTGGAGTTGAGTC -3'

Sequencing Primer
(F):5'- CTGTGTGAGCAGCCACTG -3'
(R):5'- AGTTGAGTCCCCGGGATC -3'

Posted On

2019-12-20