Mutagenetix > Incidental Mutation

Incidental Mutation 'R2049:Espn'

226209

Institutional Source

Beutler Lab

Gene Symbol

Espn

Ensembl Gene

ENSMUSG00000028943

Gene Name

espin

Synonyms

MMRRC Submission

040056-MU

Accession Numbers

Essential gene?

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

Stock #

R2049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152204788-152236828 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152205714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 408 (E408G)

Ref Sequence

ENSEMBL: ENSMUSP00000078951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025706] [ENSMUST00000030785] [ENSMUST00000035275] [ENSMUST00000049305] [ENSMUST00000070018] [ENSMUST00000080042] [ENSMUST00000084114] [ENSMUST00000105659] [ENSMUST00000105658] [ENSMUST00000105655] [ENSMUST00000103196] [ENSMUST00000105654] [ENSMUST00000105656] [ENSMUST00000105653] [ENSMUST00000105657] [ENSMUST00000135185] [ENSMUST00000207676]

AlphaFold

Q9ET47

Predicted Effect

probably benign
Transcript: ENSMUST00000025706

SMART Domains

Protein: ENSMUSP00000025706
Gene: ENSMUSG00000024793

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
TNFR	38	75	4.12e0	SMART
TNFR	78	120	3.78e-5	SMART
transmembrane domain	196	218	N/A	INTRINSIC
DEATH	315	407	6.04e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030785
AA Change: E827G

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030785
Gene: ENSMUSG00000028943
AA Change: E827G

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: ENSMUST00000035275

SMART Domains

Protein: ENSMUSP00000047823
Gene: ENSMUSG00000024793

Domain	Start	End	E-Value	Type
signal peptide	1	43	N/A	INTRINSIC
TNFR	51	88	4.12e0	SMART
TNFR	91	133	3.78e-5	SMART
transmembrane domain	172	194	N/A	INTRINSIC
DEATH	291	383	6.04e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049305
AA Change: E209G

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037982
Gene: ENSMUSG00000028943
AA Change: E209G

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000070018
AA Change: E480G

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

SMART Domains

Protein: ENSMUSP00000065545
Gene: ENSMUSG00000028943
AA Change: E480G

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 damaging
Transcript: ENSMUST00000080042
AA Change: E408G

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

SMART Domains

Protein: ENSMUSP00000078951
Gene: ENSMUSG00000028943
AA Change: E408G

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

possibly damaging
Transcript: ENSMUST00000084114
AA Change: E489G

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081131
Gene: ENSMUSG00000028943
AA Change: E489G

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

possibly damaging
Transcript: ENSMUST00000105659
AA Change: E837G

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101284
Gene: ENSMUSG00000028943
AA Change: E837G

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 damaging
Transcript: ENSMUST00000105658
AA Change: E804G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101283
Gene: ENSMUSG00000028943
AA Change: E804G

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: ENSMUST00000105655
AA Change: E405G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101280
Gene: ENSMUSG00000028943
AA Change: E405G

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

probably damaging
Transcript: ENSMUST00000103196
AA Change: E396G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099485
Gene: ENSMUSG00000028943
AA Change: E396G

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
AA Change: E477G

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101279
Gene: ENSMUSG00000028943
AA Change: E477G

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: ENSMUST00000105656
AA Change: E486G

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101281
Gene: ENSMUSG00000028943
AA Change: E486G

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 damaging
Transcript: ENSMUST00000105653
AA Change: E241G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101278
Gene: ENSMUSG00000028943
AA Change: E241G

Domain	Start	End	E-Value	Type
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

probably damaging
Transcript: ENSMUST00000105657
AA Change: E399G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101282
Gene: ENSMUSG00000028943
AA Change: E399G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153619

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 benign
Transcript: ENSMUST00000207676

Meta Mutation Damage Score

0.0889

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (118/122)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	G	A	14: 54,822,444 (GRCm39)	R8*	probably null	Het
Abhd17a	A	G	10: 80,421,440 (GRCm39)		probably null	Het
Acsm1	A	G	7: 119,255,262 (GRCm39)	R415G	probably damaging	Het
Acta1	G	T	8: 124,618,803 (GRCm39)	T360N	probably benign	Het
Adam6a	T	A	12: 113,508,049 (GRCm39)	S141T	probably benign	Het
Adgrd1	G	T	5: 129,192,159 (GRCm39)	K76N	probably benign	Het
Afdn	A	G	17: 14,030,695 (GRCm39)	E202G	probably damaging	Het
Agps	T	A	2: 75,689,270 (GRCm39)	M156K	probably benign	Het
Agxt	A	G	1: 93,065,037 (GRCm39)	I149V	probably benign	Het
Aoc1l1	T	A	6: 48,954,689 (GRCm39)	L609*	probably null	Het
Aqp2	A	G	15: 99,477,247 (GRCm39)	T72A	probably damaging	Het
Arhgap18	T	A	10: 26,725,938 (GRCm39)	D54E	probably benign	Het
Asb8	C	A	15: 98,033,950 (GRCm39)	E202*	probably null	Het
Bmp5	A	G	9: 75,801,072 (GRCm39)	I401V	probably damaging	Het
Bscl2	T	C	19: 8,822,684 (GRCm39)		probably null	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cep112	A	G	11: 108,497,151 (GRCm39)	E697G	probably damaging	Het
Cerk	G	A	15: 86,027,009 (GRCm39)	S167L	probably benign	Het
Chrm3	T	A	13: 9,928,371 (GRCm39)	I222F	probably damaging	Het
Clcn6	A	G	4: 148,108,594 (GRCm39)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 133,956,939 (GRCm39)	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,012,818 (GRCm39)		probably null	Het
Commd10	A	T	18: 47,096,814 (GRCm39)	T74S	probably benign	Het
Cyp4f39	T	C	17: 32,701,112 (GRCm39)	F201L	probably benign	Het
Dennd4a	A	G	9: 64,796,887 (GRCm39)	T860A	possibly damaging	Het
Dlg5	A	T	14: 24,204,715 (GRCm39)	I1253N	probably damaging	Het
Dnah7b	T	A	1: 46,307,830 (GRCm39)	M3048K	probably damaging	Het
Dnah9	A	G	11: 65,935,509 (GRCm39)	M1970T	probably damaging	Het
Dsc3	A	T	18: 20,122,737 (GRCm39)	D62E	possibly damaging	Het
Dsel	T	C	1: 111,787,187 (GRCm39)	N1116S	probably benign	Het
Dusp7	C	T	9: 106,251,096 (GRCm39)	T407M	probably damaging	Het
Efnb1	A	G	X: 98,191,123 (GRCm39)	Y343C	probably damaging	Het
Eif1ad8	A	G	12: 87,564,046 (GRCm39)	D127G	unknown	Het
Entpd5	A	G	12: 84,443,632 (GRCm39)	I12T	probably benign	Het
Fhip1b	A	T	7: 105,039,046 (GRCm39)	D64E	probably damaging	Het
Gdpd3	A	G	7: 126,367,766 (GRCm39)	T200A	probably damaging	Het
Gli1	A	G	10: 127,172,596 (GRCm39)	L182P	probably damaging	Het
Gm5134	G	A	10: 75,840,718 (GRCm39)	A521T	possibly damaging	Het
Gprasp1	G	A	X: 134,702,791 (GRCm39)	E995K	possibly damaging	Het
H2-M10.1	T	C	17: 36,636,108 (GRCm39)	D153G	possibly damaging	Het
Helb	A	T	10: 119,941,926 (GRCm39)	M254K	possibly damaging	Het
I0C0044D17Rik	A	G	4: 98,708,533 (GRCm39)		probably benign	Het
Igfn1	AGGG	AGG	1: 135,902,590 (GRCm39)		probably benign	Het
Igfn1	T	A	1: 135,898,376 (GRCm39)	Q730L	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Jmjd1c	T	A	10: 66,993,777 (GRCm39)	L86*	probably null	Het
Kat5	T	A	19: 5,655,713 (GRCm39)		probably null	Het
Kif14	A	G	1: 136,414,818 (GRCm39)	N768S	probably benign	Het
Kif14	A	G	1: 136,437,905 (GRCm39)	E1199G	possibly damaging	Het
Klhl29	A	G	12: 5,187,876 (GRCm39)	S163P	probably damaging	Het
Kmt2c	C	A	5: 25,490,077 (GRCm39)	Q4287H	probably damaging	Het
Krt82	T	A	15: 101,453,591 (GRCm39)	Q265L	probably damaging	Het
Macf1	C	T	4: 123,248,895 (GRCm39)	C7210Y	probably damaging	Het
Mx2	G	A	16: 97,339,903 (GRCm39)	E20K	probably benign	Het
Myom2	T	G	8: 15,156,379 (GRCm39)	I742S	probably damaging	Het
Narf	A	T	11: 121,141,195 (GRCm39)	R310*	probably null	Het
Nktr	T	A	9: 121,570,760 (GRCm39)	D167E	probably damaging	Het
Nle1	A	G	11: 82,796,192 (GRCm39)	W183R	probably damaging	Het
Npas3	A	G	12: 54,108,871 (GRCm39)	N425S	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or4a27	A	T	2: 88,559,089 (GRCm39)	Y285N	probably damaging	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4d5	T	A	9: 40,012,415 (GRCm39)	I124L	probably benign	Het
Or6c69	A	G	10: 129,748,036 (GRCm39)	V37A	probably benign	Het
Or8g52	A	T	9: 39,631,411 (GRCm39)	D296V	probably damaging	Het
Or8s2	G	A	15: 98,276,277 (GRCm39)	T238I	possibly damaging	Het
Otol1	T	A	3: 69,926,169 (GRCm39)	F115I	probably benign	Het
Parp8	T	A	13: 117,031,422 (GRCm39)	D430V	probably benign	Het
Pex7	T	A	10: 19,770,061 (GRCm39)	H123L	probably damaging	Het
Pkhd1l1	T	A	15: 44,410,909 (GRCm39)		probably benign	Het
Pkhd1l1	G	A	15: 44,445,137 (GRCm39)	D3670N	probably damaging	Het
Plec	T	C	15: 76,067,374 (GRCm39)	T1331A	probably benign	Het
Plekha4	A	G	7: 45,203,222 (GRCm39)	D704G	probably benign	Het
Plxnb2	T	A	15: 89,043,205 (GRCm39)	N1453I	probably damaging	Het
Pms1	T	A	1: 53,321,147 (GRCm39)	I29F	probably damaging	Het
Ppp1r1a	G	A	15: 103,439,833 (GRCm39)	T153I	probably damaging	Het
Pramel12	T	A	4: 143,143,441 (GRCm39)	L69Q	probably damaging	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Ptpre	A	G	7: 135,272,424 (GRCm39)		probably benign	Het
Ptprt	A	T	2: 161,376,465 (GRCm39)	I1312N	probably damaging	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rims1	C	T	1: 22,635,516 (GRCm39)	C155Y	probably damaging	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Slitrk6	T	G	14: 110,988,226 (GRCm39)	T494P	probably benign	Het
Sltm	G	A	9: 70,488,583 (GRCm39)	G578S	probably benign	Het
Smyd5	A	G	6: 85,421,300 (GRCm39)	E338G	probably benign	Het
Snx2	G	A	18: 53,327,516 (GRCm39)	V81M	probably damaging	Het
Sp2	G	T	11: 96,852,191 (GRCm39)	N244K	probably benign	Het
Sspo	C	A	6: 48,437,697 (GRCm39)		probably benign	Het
Sspo	A	C	6: 48,440,465 (GRCm39)	D1568A	probably benign	Het
Ssrp1	T	C	2: 84,871,771 (GRCm39)		probably benign	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,674,479 (GRCm39)		probably benign	Het
Syt7	G	A	19: 10,416,577 (GRCm39)	R138Q	probably benign	Het
Taar7f	T	C	10: 23,926,323 (GRCm39)	Y306H	possibly damaging	Het
Tbccd1	T	C	16: 22,637,291 (GRCm39)		probably null	Het
Tesl1	T	A	X: 23,773,549 (GRCm39)	V350E	probably benign	Het
Tex261	A	G	6: 83,749,241 (GRCm39)	Y119H	probably damaging	Het
Tmem131l	T	G	3: 83,850,095 (GRCm39)	E234D	probably damaging	Het
Tnnt2	TG	TGG	1: 135,774,499 (GRCm39)		probably benign	Het
Top6bl	A	G	19: 4,748,633 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubap1	C	T	4: 41,379,257 (GRCm39)	A157V	probably damaging	Het
Ubr4	C	T	4: 139,204,518 (GRCm39)	T4810M	probably damaging	Het
Uso1	G	A	5: 92,329,795 (GRCm39)	G427R	probably damaging	Het
Usp15	A	T	10: 122,955,042 (GRCm39)	V912D	probably damaging	Het
Vmn1r20	T	C	6: 57,408,943 (GRCm39)	S90P	probably damaging	Het
Vmn1r32	T	C	6: 66,530,545 (GRCm39)	K77R	probably damaging	Het
Vmn2r100	A	G	17: 19,742,312 (GRCm39)	K229E	probably benign	Het
Vmn2r106	A	G	17: 20,488,566 (GRCm39)	V611A	possibly damaging	Het
Xrcc6	T	A	15: 81,907,178 (GRCm39)	F167I	probably damaging	Het
Zbtb21	G	T	16: 97,751,355 (GRCm39)	P804H	probably damaging	Het
Zdhhc3	T	C	9: 122,929,602 (GRCm39)	D11G	probably damaging	Het
Zfhx3	A	G	8: 109,671,809 (GRCm39)	T1324A	probably benign	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,553,091 (GRCm39)		probably benign	Het
Zfp608	G	T	18: 55,028,637 (GRCm39)	L1259I	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
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

PCR Primer
(F):5'- TTGTGAGGCTACACGCAAGAAG -3'
(R):5'- ATGACCCAGCATCTCTTACCAG -3'

Sequencing Primer
(F):5'- GCCGAGAGACTCCTATTACTTAGGG -3'
(R):5'- AATAGTCCGATTTCAGCCCC -3'

Posted On

2014-09-17