Mutagenetix > Incidental Mutations

Incidental Mutation 'R2119:Enah'

231255

Institutional Source

Beutler Lab

Gene Symbol

Enah

Ensembl Gene

ENSMUSG00000022995

Gene Name

ENAH actin regulator

Synonyms

Ndpp1, Mena

MMRRC Submission

040123-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.750) question?

Stock #

R2119 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

181896384-182019990 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 181921753 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 138 (A138E)

Ref Sequence

ENSEMBL: ENSMUSP00000141330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078719] [ENSMUST00000111024] [ENSMUST00000111025] [ENSMUST00000111030] [ENSMUST00000177811] [ENSMUST00000192967] [ENSMUST00000193074] [ENSMUST00000193703] [ENSMUST00000195059]

Predicted Effect

probably damaging
Transcript: ENSMUST00000078719
AA Change: A507E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077781
Gene: ENSMUSG00000022995
AA Change: A507E

Domain	Start	End	E-Value	Type
RanBD	1	107	1.86e-1	SMART
WH1	1	108	3.02e-46	SMART
coiled coil region	154	258	N/A	INTRINSIC
low complexity region	274	285	N/A	INTRINSIC
low complexity region	308	317	N/A	INTRINSIC
internal_repeat_1	354	366	4.73e-6	PROSPERO
low complexity region	373	392	N/A	INTRINSIC
low complexity region	398	420	N/A	INTRINSIC
low complexity region	430	471	N/A	INTRINSIC
low complexity region	487	507	N/A	INTRINSIC
low complexity region	542	609	N/A	INTRINSIC
low complexity region	665	678	N/A	INTRINSIC
internal_repeat_1	746	758	4.73e-6	PROSPERO
Pfam:VASP_tetra	765	801	1.7e-20	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000111024
AA Change: A244E

SMART Domains

Protein: ENSMUSP00000106653
Gene: ENSMUSG00000022995
AA Change: A244E

Domain	Start	End	E-Value	Type
RanBD	1	107	1.86e-1	SMART
WH1	1	108	3.02e-46	SMART
coiled coil region	135	239	N/A	INTRINSIC
low complexity region	255	266	N/A	INTRINSIC
low complexity region	289	298	N/A	INTRINSIC
internal_repeat_1	335	347	3.85e-6	PROSPERO
low complexity region	354	373	N/A	INTRINSIC
low complexity region	379	401	N/A	INTRINSIC
low complexity region	411	452	N/A	INTRINSIC
low complexity region	468	488	N/A	INTRINSIC
low complexity region	523	590	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC
internal_repeat_1	727	739	3.85e-6	PROSPERO
Pfam:VASP_tetra	745	784	1.4e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111025
AA Change: A244E

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106654
Gene: ENSMUSG00000022995
AA Change: A244E

Domain	Start	End	E-Value	Type
RanBD	1	107	1.86e-1	SMART
WH1	1	108	3.02e-46	SMART
coiled coil region	135	240	N/A	INTRINSIC
low complexity region	279	313	N/A	INTRINSIC
low complexity region	368	381	N/A	INTRINSIC
Pfam:VASP_tetra	467	506	2.3e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111030
AA Change: A492E

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106659
Gene: ENSMUSG00000022995
AA Change: A492E

Domain	Start	End	E-Value	Type
RanBD	1	107	1.86e-1	SMART
WH1	1	108	3.02e-46	SMART
coiled coil region	139	243	N/A	INTRINSIC
low complexity region	259	270	N/A	INTRINSIC
low complexity region	293	302	N/A	INTRINSIC
internal_repeat_1	339	351	3.87e-6	PROSPERO
low complexity region	358	377	N/A	INTRINSIC
low complexity region	383	405	N/A	INTRINSIC
low complexity region	415	456	N/A	INTRINSIC
low complexity region	472	492	N/A	INTRINSIC
low complexity region	527	594	N/A	INTRINSIC
low complexity region	650	663	N/A	INTRINSIC
internal_repeat_1	731	743	3.87e-6	PROSPERO
Pfam:VASP_tetra	749	788	1.4e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177811
AA Change: A492E

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136863
Gene: ENSMUSG00000022995
AA Change: A492E

Domain	Start	End	E-Value	Type
RanBD	1	107	1.86e-1	SMART
WH1	1	108	3.02e-46	SMART
coiled coil region	139	243	N/A	INTRINSIC
low complexity region	259	270	N/A	INTRINSIC
low complexity region	293	302	N/A	INTRINSIC
internal_repeat_1	339	351	4.25e-6	PROSPERO
low complexity region	358	377	N/A	INTRINSIC
low complexity region	383	405	N/A	INTRINSIC
low complexity region	415	456	N/A	INTRINSIC
low complexity region	472	492	N/A	INTRINSIC
low complexity region	527	594	N/A	INTRINSIC
low complexity region	650	663	N/A	INTRINSIC
internal_repeat_1	731	743	4.25e-6	PROSPERO
Pfam:VASP_tetra	749	788	2.2e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000192967
AA Change: A138E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141330
Gene: ENSMUSG00000022995
AA Change: A138E

Domain	Start	End	E-Value	Type
SCOP:d1fxkc_	3	63	1e-3	SMART
low complexity region	70	99	N/A	INTRINSIC
low complexity region	118	138	N/A	INTRINSIC
low complexity region	173	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193074

SMART Domains

Protein: ENSMUSP00000141936
Gene: ENSMUSG00000022995

Domain	Start	End	E-Value	Type
RanBD	7	127	1.5e-4	SMART
WH1	21	128	2.8e-47	SMART
coiled coil region	155	260	N/A	INTRINSIC
low complexity region	262	329	N/A	INTRINSIC
low complexity region	385	398	N/A	INTRINSIC
Pfam:VASP_tetra	484	523	1.8e-20	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000193703
AA Change: A244E

SMART Domains

Protein: ENSMUSP00000141462
Gene: ENSMUSG00000022995
AA Change: A244E

Domain	Start	End	E-Value	Type
RanBD	1	107	1.86e-1	SMART
WH1	1	108	3.02e-46	SMART
coiled coil region	135	240	N/A	INTRINSIC
low complexity region	279	346	N/A	INTRINSIC
low complexity region	402	415	N/A	INTRINSIC
Pfam:VASP_tetra	501	540	2.5e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195059
AA Change: A488E

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141344
Gene: ENSMUSG00000022995
AA Change: A488E

Domain	Start	End	E-Value	Type
RanBD	1	107	1.86e-1	SMART
WH1	1	108	3.02e-46	SMART
coiled coil region	135	239	N/A	INTRINSIC
low complexity region	255	266	N/A	INTRINSIC
low complexity region	289	298	N/A	INTRINSIC
internal_repeat_1	335	347	3.85e-6	PROSPERO
low complexity region	354	373	N/A	INTRINSIC
low complexity region	379	401	N/A	INTRINSIC
low complexity region	411	452	N/A	INTRINSIC
low complexity region	468	488	N/A	INTRINSIC
low complexity region	523	590	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC
internal_repeat_1	727	739	3.85e-6	PROSPERO
Pfam:VASP_tetra	745	784	1.4e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195840

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the enabled/ vasodilator-stimulated phosphoprotein. Members of this gene family are involved in actin-based motility. This protein is involved in regulating the assembly of actin filaments and modulates cell adhesion and motility. Alternate splice variants of this gene have been correlated with tumor invasiveness in certain tissues and these variants may serve as prognostic markers. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a targeted mutation show defects in major axonal projection pathways in brain, including malformation of the hippocampal commissure and pontocerebellar fibers and frequent agenesis of the corpus callosum due to a failure of axons to project across the midline during development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,538,872	L143M	possibly damaging	Het
Actbl2	G	A	13: 111,255,160	V10I	probably benign	Het
Adamts12	C	T	15: 11,310,579	T974I	probably damaging	Het
Aifm2	G	A	10: 61,735,604	V306M	possibly damaging	Het
Arhgef38	T	C	3: 133,160,753	K208E	probably benign	Het
Atxn7l3	C	A	11: 102,291,981	R278L	possibly damaging	Het
Bcl9	A	G	3: 97,208,915	L821P	probably benign	Het
Cdh19	C	T	1: 110,919,590	V430I	probably benign	Het
Clns1a	T	A	7: 97,713,904		probably null	Het
Col3a1	T	A	1: 45,346,121	C133S	probably damaging	Het
Csmd1	G	A	8: 17,216,733	T59I	probably damaging	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Cyp2j8	A	T	4: 96,507,201	D62E	probably benign	Het
Dcbld1	A	T	10: 52,319,979	M428L	probably benign	Het
Dhx32	A	T	7: 133,722,247	Y523*	probably null	Het
Dlgap2	C	T	8: 14,778,206	A538V	possibly damaging	Het
Dlgap3	T	C	4: 127,236,189	S919P	probably benign	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dsc1	A	T	18: 20,110,152	H81Q	probably benign	Het
Dusp8	A	T	7: 142,082,561	S431T	possibly damaging	Het
Dync1i1	A	T	6: 5,767,096	T59S	probably damaging	Het
Ecel1	A	G	1: 87,148,275	S727P	probably damaging	Het
Ednrb	T	A	14: 103,821,768	D274V	probably benign	Het
Eef1d	G	T	15: 75,903,213	A199E	probably benign	Het
Eml3	T	A	19: 8,934,354		probably null	Het
Fgf18	A	C	11: 33,118,003	F129C	probably damaging	Het
Gba	A	T	3: 89,205,561	E170V	probably benign	Het
Hdac1	C	T	4: 129,522,364	R212Q	probably benign	Het
Heatr1	T	A	13: 12,432,646	L1740Q	probably null	Het
Inhbb	T	A	1: 119,420,701	H129L	probably benign	Het
Inpp5b	T	A	4: 124,797,869	H862Q	probably benign	Het
Itsn2	C	A	12: 4,707,025	R1372S	probably benign	Het
Jaml	T	A	9: 45,101,064	I283N	probably damaging	Het
Klk1b21	A	T	7: 44,105,769	T163S	probably benign	Het
Lmo3	A	T	6: 138,416,494	C43S	probably damaging	Het
Metrn	C	T	17: 25,795,223	V210I	probably benign	Het
Ndufaf7	A	T	17: 78,945,013	I284F	possibly damaging	Het
Nlrp6	T	C	7: 140,926,444	V766A	probably benign	Het
Olfr713	A	G	7: 107,036,731	D192G	probably damaging	Het
Osbpl7	T	C	11: 97,056,079	S403P	probably benign	Het
Pabpc4l	T	C	3: 46,446,841	T123A	probably benign	Het
Pde6d	A	G	1: 86,545,802	F91L	probably benign	Het
Psg20	T	A	7: 18,681,022	Y316F	probably benign	Het
Psmd1	T	A	1: 86,078,700	S263T	possibly damaging	Het
Pum1	C	A	4: 130,669,270	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,404,395	M156K	probably benign	Het
Reln	T	A	5: 22,019,000	E917V	probably damaging	Het
Rfc4	A	T	16: 23,124,564	V61E	probably damaging	Het
Rnf112	C	T	11: 61,451,028	V317I	possibly damaging	Het
Rpe	T	C	1: 66,715,228	M153T	probably damaging	Het
Rtn4ip1	A	G	10: 43,935,997		probably null	Het
Sap18	T	A	14: 57,798,554	S66T	probably damaging	Het
Scamp5	C	A	9: 57,447,225	V49F	possibly damaging	Het
Serhl	A	G	15: 83,115,575	Q252R	probably benign	Het
Sestd1	T	C	2: 77,212,523	D229G	probably benign	Het
Slc35g1	T	C	19: 38,403,287	V339A	probably benign	Het
Slc9b2	T	A	3: 135,328,982		probably null	Het
Stk40	C	T	4: 126,128,847	T138I	probably benign	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Tep1	T	G	14: 50,838,986	K1664Q	probably benign	Het
Tmod2	T	C	9: 75,586,095	K193E	possibly damaging	Het
Trak1	T	A	9: 121,472,997	*940R	probably null	Het
Ttc5	A	T	14: 50,775,365	Y189N	probably damaging	Het
Ugt2a3	A	T	5: 87,336,571	M198K	probably damaging	Het
Uox	A	G	3: 146,612,542	H66R	probably benign	Het
Usp9y	A	T	Y: 1,303,451	D2487E	probably benign	Het
Vnn3	G	A	10: 23,864,413	G205R	probably damaging	Het
Vps11	T	C	9: 44,348,997	D856G	probably benign	Het
Zdhhc17	T	C	10: 110,982,048	N90D	possibly damaging	Het
Zfp105	T	A	9: 122,929,678	L138*	probably null	Het
Zfp28	A	G	7: 6,394,876	Y770C	probably benign	Het
Zfp655	T	A	5: 145,244,784	L484Q	probably damaging	Het
Zfp868	C	A	8: 69,611,995	E230*	probably null	Het
Zfpm2	A	G	15: 41,103,023	Y836C	probably damaging	Het

Other mutations in Enah

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Enah	APN	1	181935696	intron	probably benign
IGL01996:Enah	APN	1	181956505	missense	unknown
R0025:Enah	UTSW	1	181913373	missense	possibly damaging	0.53
R0612:Enah	UTSW	1	181906448	splice site	probably benign
R1005:Enah	UTSW	1	181961930	splice site	probably benign
R1075:Enah	UTSW	1	181956501	missense	unknown
R1589:Enah	UTSW	1	181922293	missense	probably damaging	1.00
R1601:Enah	UTSW	1	181919620	nonsense	probably null
R1607:Enah	UTSW	1	181917197	critical splice donor site	probably null
R1785:Enah	UTSW	1	181956429	missense	unknown
R2035:Enah	UTSW	1	181921972	missense	probably damaging	1.00
R2037:Enah	UTSW	1	181921972	missense	probably damaging	1.00
R2180:Enah	UTSW	1	181918459	missense	probably damaging	1.00
R2233:Enah	UTSW	1	181921972	missense	probably damaging	1.00
R4348:Enah	UTSW	1	181922420	missense	possibly damaging	0.94
R4350:Enah	UTSW	1	181922420	missense	possibly damaging	0.94
R4576:Enah	UTSW	1	181919563	missense	possibly damaging	0.79
R4956:Enah	UTSW	1	181918289	missense	probably damaging	0.98
R5230:Enah	UTSW	1	181935670	intron	probably benign
R5282:Enah	UTSW	1	181935728	splice site	probably null
R5505:Enah	UTSW	1	181906453	splice site	probably benign
R5813:Enah	UTSW	1	181931185	intron	probably benign
R6324:Enah	UTSW	1	181918571	missense	probably damaging	1.00
R6374:Enah	UTSW	1	181923580	missense	unknown
R6503:Enah	UTSW	1	181918511	missense	probably damaging	1.00
R6513:Enah	UTSW	1	182014355	intron	probably benign
R6925:Enah	UTSW	1	181905898	critical splice acceptor site	probably null
R6925:Enah	UTSW	1	181905899	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTCTTCTAGGCAGGCAAAGTTG -3'
(R):5'- CTGTAACATACCCAGTGTCTCC -3'

Sequencing Primer
(F):5'- AGTTGCTCTGCACTCCTCAGAATG -3'
(R):5'- TACCTCAGGGCCAGCAG -3'

Posted On

2014-09-18