Mutagenetix > Incidental Mutation

Incidental Mutation 'R4998:Espn'

389628

Institutional Source

Beutler Lab

Gene Symbol

Espn

Ensembl Gene

ENSMUSG00000028943

Gene Name

espin

Synonyms

MMRRC Submission

042592-MU

Accession Numbers

Essential gene?

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

Stock #

R4998 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152204788-152236828 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 152220040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 361 (M361K)

Ref Sequence

ENSEMBL: ENSMUSP00000147144 (fasta)

Gene Model

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

AlphaFold

Q9ET47

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030785
AA Change: M361K

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030785
Gene: ENSMUSG00000028943
AA Change: M361K

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

possibly damaging
Transcript: ENSMUST00000070018
AA Change: M34K

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000065545
Gene: ENSMUSG00000028943
AA Change: M34K

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
AA Change: M34K

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000078951
Gene: ENSMUSG00000028943
AA Change: M34K

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: M34K

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081131
Gene: ENSMUSG00000028943
AA Change: M34K

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: ENSMUST00000103196
AA Change: M34K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099485
Gene: ENSMUSG00000028943
AA Change: M34K

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: ENSMUST00000105653

SMART Domains

Protein: ENSMUSP00000101278
Gene: ENSMUSG00000028943

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 benign
Transcript: ENSMUST00000105654
AA Change: M34K

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101279
Gene: ENSMUSG00000028943
AA Change: M34K

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: ENSMUST00000135185
AA Change: M263K

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122464
Gene: ENSMUSG00000028943
AA Change: M263K

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: ENSMUST00000105655
AA Change: M34K

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101280
Gene: ENSMUSG00000028943
AA Change: M34K

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: ENSMUST00000105656
AA Change: M34K

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101281
Gene: ENSMUSG00000028943
AA Change: M34K

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

possibly damaging
Transcript: ENSMUST00000105658
AA Change: M361K

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101283
Gene: ENSMUSG00000028943
AA Change: M361K

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: ENSMUST00000105659
AA Change: M361K

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101284
Gene: ENSMUSG00000028943
AA Change: M361K

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: ENSMUST00000207676
AA Change: M361K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105657
AA Change: M34K

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101282
Gene: ENSMUSG00000028943
AA Change: M34K

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: ENSMUST00000136627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137937

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150958

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (91/94)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,271,088 (GRCm39)	V135A	probably damaging	Het
Ankrd42	T	C	7: 92,273,282 (GRCm39)	N115S	possibly damaging	Het
Baz1a	T	C	12: 55,021,922 (GRCm39)	E120G	probably damaging	Het
Calcrl	A	T	2: 84,169,658 (GRCm39)	V341E	probably damaging	Het
Card6	T	C	15: 5,129,564 (GRCm39)	R611G	probably benign	Het
Cd70	A	T	17: 57,453,311 (GRCm39)	S118T	probably damaging	Het
Chil5	T	A	3: 105,927,248 (GRCm39)	I188F	probably damaging	Het
Clca4b	C	T	3: 144,621,269 (GRCm39)	V602I	probably benign	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Col6a4	A	G	9: 105,867,977 (GRCm39)		probably benign	Het
Cox8b	T	C	7: 140,479,001 (GRCm39)	E38G	probably damaging	Het
Cx3cl1	C	G	8: 95,507,053 (GRCm39)	L353V	probably damaging	Het
Cyp2a4	G	T	7: 26,006,786 (GRCm39)	Q48H	probably damaging	Het
Defb8	T	C	8: 19,497,603 (GRCm39)	I3V	probably benign	Het
Dip2a	A	T	10: 76,155,390 (GRCm39)	L65*	probably null	Het
Dnaaf4	A	G	9: 72,867,960 (GRCm39)	T74A	possibly damaging	Het
Dsg2	A	T	18: 20,734,578 (GRCm39)	D852V	probably benign	Het
Edar	T	C	10: 58,441,915 (GRCm39)	R326G	probably damaging	Het
Egfr	A	G	11: 16,831,493 (GRCm39)	E554G	possibly damaging	Het
Eif2b3	A	C	4: 116,923,589 (GRCm39)	K268T	probably benign	Het
Enox1	A	T	14: 77,738,875 (GRCm39)		probably benign	Het
Enpp3	C	A	10: 24,683,436 (GRCm39)	M260I	probably benign	Het
Fam107a	T	C	14: 8,299,514 (GRCm38)	N108S	possibly damaging	Het
Fbn2	A	T	18: 58,205,703 (GRCm39)	V1125D	probably damaging	Het
Fbxo30	T	A	10: 11,166,507 (GRCm39)	S410T	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fcsk	G	A	8: 111,614,435 (GRCm39)	A618V	probably damaging	Het
Gm10715	T	G	9: 3,038,073 (GRCm39)		probably benign	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm17416	C	A	2: 152,411,427 (GRCm39)	P57Q	probably damaging	Het
Gm27013	A	T	6: 130,653,501 (GRCm39)	C654S	probably damaging	Het
Gon4l	G	T	3: 88,807,305 (GRCm39)	E1666D	probably damaging	Het
Gypa	T	A	8: 81,222,964 (GRCm39)	S23T	unknown	Het
Gys1	C	A	7: 45,100,968 (GRCm39)		probably benign	Het
Hdac10	T	A	15: 89,008,143 (GRCm39)	Q569L	possibly damaging	Het
Icos	A	G	1: 61,032,941 (GRCm39)	T47A	possibly damaging	Het
Igfn1	T	A	1: 135,882,404 (GRCm39)	I2814F	probably damaging	Het
Kif27	A	G	13: 58,440,957 (GRCm39)	S1153P	probably damaging	Het
Lin28a	A	C	4: 133,746,028 (GRCm39)	F9V	possibly damaging	Het
Lrriq3	T	A	3: 154,893,695 (GRCm39)	N465K	probably benign	Het
Lsm14a	T	C	7: 34,074,799 (GRCm39)	E47G	probably damaging	Het
Mmel1	A	G	4: 154,969,967 (GRCm39)	K177R	probably benign	Het
Ncstn	T	A	1: 171,899,087 (GRCm39)	N348I	possibly damaging	Het
Ninl	A	G	2: 150,795,284 (GRCm39)	I619T	probably damaging	Het
Npb	T	C	11: 120,499,401 (GRCm39)	Y23H	probably damaging	Het
Npepps	A	G	11: 97,096,933 (GRCm39)		probably benign	Het
Or8k30	T	C	2: 86,339,699 (GRCm39)	Y299H	probably benign	Het
Otop1	G	A	5: 38,451,892 (GRCm39)		probably null	Het
Pcdha1	T	C	18: 37,065,469 (GRCm39)	L711P	probably damaging	Het
Pcyt1a	A	G	16: 32,270,660 (GRCm39)		probably benign	Het
Pdpr	G	T	8: 111,841,400 (GRCm39)	V211F	probably damaging	Het
Pip4k2b	T	C	11: 97,613,261 (GRCm39)	N245S	possibly damaging	Het
Platr26	G	A	2: 71,561,214 (GRCm39)		noncoding transcript	Het
Plek	A	G	11: 16,933,194 (GRCm39)		probably null	Het
Potefam3c	G	C	8: 69,906,010 (GRCm39)	N13K	probably benign	Het
Prdm15	A	T	16: 97,595,689 (GRCm39)	D1046E	probably damaging	Het
Prr29	T	G	11: 106,267,779 (GRCm39)	C175G	probably benign	Het
Ptpru	A	G	4: 131,504,196 (GRCm39)	V1097A	probably damaging	Het
Ramp2	T	A	11: 101,138,247 (GRCm39)		probably benign	Het
Rap1gap	A	G	4: 137,455,595 (GRCm39)	D381G	possibly damaging	Het
Rbbp6	T	A	7: 122,589,549 (GRCm39)	D412E	probably benign	Het
Rgs4	C	T	1: 169,572,802 (GRCm39)	V45I	probably benign	Het
Ryr2	C	T	13: 11,658,781 (GRCm39)	R3614Q	probably damaging	Het
Shc3	G	A	13: 51,596,856 (GRCm39)		probably null	Het
Shmt2	A	T	10: 127,354,139 (GRCm39)	C412S	probably damaging	Het
Slc25a45	A	T	19: 5,934,945 (GRCm39)	N265Y	probably damaging	Het
Slc4a10	G	C	2: 62,074,783 (GRCm39)	E316Q	probably benign	Het
Slc5a8	T	C	10: 88,743,919 (GRCm39)		probably null	Het
Snx31	A	G	15: 36,539,513 (GRCm39)	V121A	probably damaging	Het
Socs3	T	C	11: 117,858,542 (GRCm39)	E172G	probably damaging	Het
Tg	A	G	15: 66,545,899 (GRCm39)	D207G	probably damaging	Het
Them4	G	T	3: 94,237,088 (GRCm39)	V183F	probably damaging	Het
Tkt	G	A	14: 30,287,499 (GRCm39)	W136*	probably null	Het
Tlcd3b	C	T	7: 126,426,795 (GRCm39)	R73C	probably damaging	Het
Tmc3	C	A	7: 83,271,529 (GRCm39)	R894S	probably benign	Het
Tmem132a	G	T	19: 10,836,305 (GRCm39)	P742T	probably benign	Het
Tmem202	A	G	9: 59,432,129 (GRCm39)	L66P	probably damaging	Het
Trbc1	G	A	6: 41,516,270 (GRCm39)		probably benign	Het
Trhr2	A	G	8: 123,085,511 (GRCm39)	F158L	probably benign	Het
Ttc13	A	T	8: 125,406,795 (GRCm39)	N595K	probably damaging	Het
Ucp1	A	G	8: 84,024,484 (GRCm39)		probably null	Het
Zbtb4	C	T	11: 69,669,497 (GRCm39)	T740I	probably benign	Het
Zfp69	A	T	4: 120,804,522 (GRCm39)	D116E	possibly damaging	Het
Zfp879	A	G	11: 50,728,796 (GRCm39)	L66S	probably damaging	Het
Zfp955b	T	A	17: 33,524,125 (GRCm39)		probably benign	Het
Zfyve1	T	C	12: 83,594,839 (GRCm39)	I718V	possibly 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
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
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'- AAGTTCAAGTGCATCCCCTC -3'
(R):5'- ATAGGAGTCTGGATAGGCCTG -3'

Sequencing Primer
(F):5'- CTCTCCATGTTAAGACATTGACTG -3'
(R):5'- GCCTGGCCTGGAAGTTATC -3'

Posted On

2016-06-06