Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01996:Enah'

182908

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Enah

Ensembl Gene

ENSMUSG00000022995

Gene Name

ENAH actin regulator

Synonyms

Ndpp1, Mena

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.746) question?

Stock #

IGL01996

Quality Score

Status

Chromosome

Chromosomal Location

181896384-182019990 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 181956505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 80 (W80R)

Ref Sequence

ENSEMBL: ENSMUSP00000141344 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000078719
AA Change: W80R

SMART Domains

Protein: ENSMUSP00000077781
Gene: ENSMUSG00000022995
AA Change: W80R

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: W80R

SMART Domains

Protein: ENSMUSP00000106653
Gene: ENSMUSG00000022995
AA Change: W80R

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

unknown
Transcript: ENSMUST00000111025
AA Change: W80R

SMART Domains

Protein: ENSMUSP00000106654
Gene: ENSMUSG00000022995
AA Change: W80R

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

unknown
Transcript: ENSMUST00000111030
AA Change: W80R

SMART Domains

Protein: ENSMUSP00000106659
Gene: ENSMUSG00000022995
AA Change: W80R

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

unknown
Transcript: ENSMUST00000177811
AA Change: W80R

SMART Domains

Protein: ENSMUSP00000136863
Gene: ENSMUSG00000022995
AA Change: W80R

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

noncoding transcript
Transcript: ENSMUST00000192497

Predicted Effect

unknown
Transcript: ENSMUST00000193074
AA Change: W100R

SMART Domains

Protein: ENSMUSP00000141936
Gene: ENSMUSG00000022995
AA Change: W100R

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: W80R

SMART Domains

Protein: ENSMUSP00000141462
Gene: ENSMUSG00000022995
AA Change: W80R

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

noncoding transcript
Transcript: ENSMUST00000194331

Predicted Effect

unknown
Transcript: ENSMUST00000195059
AA Change: W80R

SMART Domains

Protein: ENSMUSP00000141344
Gene: ENSMUSG00000022995
AA Change: W80R

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: ENSMUST00000195840

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,150,700	V29A	possibly damaging	Het
Adarb1	A	G	10: 77,322,217	L132P	probably damaging	Het
Afg3l1	T	G	8: 123,501,894	M733R	probably damaging	Het
Aox1	C	T	1: 58,082,066	R899C	probably benign	Het
Arhgap44	T	A	11: 65,005,496		probably benign	Het
Asns	T	C	6: 7,682,378	D189G	possibly damaging	Het
Brap	A	G	5: 121,678,847		probably benign	Het
Ccdc138	T	A	10: 58,562,030	L564H	probably damaging	Het
Ccdc167	A	G	17: 29,705,487		probably null	Het
Ccdc178	A	G	18: 22,097,756	Y353H	probably damaging	Het
Clca3b	A	T	3: 144,849,163	S41R	probably benign	Het
Dpep3	T	C	8: 105,974,726	N397S	probably damaging	Het
Eif1	T	C	11: 100,321,000	I83T	probably benign	Het
F2rl1	C	T	13: 95,513,924	C150Y	probably damaging	Het
Fbxw24	T	C	9: 109,605,372	R387G	possibly damaging	Het
Fsd1l	A	G	4: 53,647,760	T68A	probably benign	Het
Greb1	T	C	12: 16,690,845	K1412R	possibly damaging	Het
Grin2b	T	C	6: 135,732,586	S1321G	probably damaging	Het
Hist1h4j	G	A	13: 21,735,138	G15S	unknown	Het
Itgb7	C	T	15: 102,217,977	G508D	probably damaging	Het
Kcnq3	A	G	15: 66,023,696	I333T	probably damaging	Het
Knl1	A	G	2: 119,104,061	D2115G	probably damaging	Het
Lmtk3	G	A	7: 45,793,447		probably null	Het
Lrpprc	A	G	17: 84,773,270	Y176H	probably benign	Het
Mier1	T	C	4: 103,127,276	S22P	possibly damaging	Het
Mme	A	T	3: 63,343,549	N337I	probably benign	Het
Mthfd1	A	G	12: 76,303,905	Y687C	probably damaging	Het
Nrp2	T	C	1: 62,749,260	M373T	probably damaging	Het
Nudcd1	A	T	15: 44,405,961	F101Y	probably benign	Het
Nup133	T	A	8: 123,946,595	I66L	probably benign	Het
Olfr1406	T	C	1: 173,183,727	T236A	probably benign	Het
Olfr378	T	A	11: 73,425,968	N5I	probably damaging	Het
Olfr736	T	G	14: 50,393,659	M301R	probably damaging	Het
Osbpl5	A	G	7: 143,707,344		probably null	Het
Paqr8	T	C	1: 20,935,404	F261L	probably damaging	Het
Plxna2	A	G	1: 194,799,776	E1452G	probably damaging	Het
Polh	T	C	17: 46,173,001	D446G	probably benign	Het
Psg19	A	T	7: 18,790,061	M353K	possibly damaging	Het
Sap25	T	C	5: 137,641,818		probably null	Het
Sap30l	C	T	11: 57,809,951	R144*	probably null	Het
Sema6b	C	T	17: 56,131,157	V144M	probably damaging	Het
Sfmbt2	T	C	2: 10,440,026	Y228H	probably benign	Het
Shank2	A	G	7: 144,411,493	D946G	probably damaging	Het
Slc11a1	T	A	1: 74,376,806	L52Q	possibly damaging	Het
Sptlc3	T	C	2: 139,581,504		probably benign	Het
Tgfb1i1	T	C	7: 128,249,292		probably benign	Het
Tifa	T	C	3: 127,796,580		probably benign	Het
Tomm40l	C	T	1: 171,219,655	V265M	possibly damaging	Het
Trim45	C	A	3: 100,928,109	Y469*	probably null	Het
Ttc21a	G	T	9: 119,958,116	A730S	probably damaging	Het
Vmn1r18	A	T	6: 57,390,016	D184E	possibly damaging	Het
Vmn2r120	A	T	17: 57,525,222	I189N	possibly damaging	Het

Other mutations in Enah

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Enah	APN	1	181935696	intron	probably benign
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
R2119:Enah	UTSW	1	181921753	missense	probably damaging	0.98
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
R7184:Enah	UTSW	1	181922392	missense	probably damaging	0.99
R7308:Enah	UTSW	1	181906385	critical splice donor site	probably null
R7453:Enah	UTSW	1	181961905	missense	unknown
R7759:Enah	UTSW	1	181918444	missense	unknown
R9060:Enah	UTSW	1	181922252	missense	probably damaging	1.00
R9137:Enah	UTSW	1	181911595	critical splice donor site	probably null
R9335:Enah	UTSW	1	181921885	missense	probably damaging	1.00
R9458:Enah	UTSW	1	181918542	missense	unknown
R9759:Enah	UTSW	1	182014346	missense	unknown
RF024:Enah	UTSW	1	181921934	frame shift	probably null
RF032:Enah	UTSW	1	181921929	frame shift	probably null
RF038:Enah	UTSW	1	181921935	small deletion	probably benign

Posted On

2014-05-07