Mutagenetix > Incidental Mutation

Incidental Mutation 'RF032:Enah'

604394

Institutional Source

Beutler Lab

Gene Symbol

Enah

Ensembl Gene

ENSMUSG00000022995

Gene Name

ENAH actin regulator

Synonyms

Ndpp1, Mena

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.689) question?

Stock #

RF032 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

181896384-182019990 bp(-) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

TGGCGGTGG to TG at 181921929 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000077781 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000078719

SMART Domains

Protein: ENSMUSP00000077781
Gene: ENSMUSG00000022995

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

probably benign
Transcript: ENSMUST00000111024

SMART Domains

Protein: ENSMUSP00000106653
Gene: ENSMUSG00000022995

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

probably benign
Transcript: ENSMUST00000111025

SMART Domains

Protein: ENSMUSP00000106654
Gene: ENSMUSG00000022995

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

probably null
Transcript: ENSMUST00000111030

SMART Domains

Protein: ENSMUSP00000106659
Gene: ENSMUSG00000022995

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

probably null
Transcript: ENSMUST00000177811

SMART Domains

Protein: ENSMUSP00000136863
Gene: ENSMUSG00000022995

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 null
Transcript: ENSMUST00000192967

SMART Domains

Protein: ENSMUSP00000141330
Gene: ENSMUSG00000022995

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

probably benign
Transcript: ENSMUST00000193703

SMART Domains

Protein: ENSMUSP00000141462
Gene: ENSMUSG00000022995

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

probably null
Transcript: ENSMUST00000195059

SMART Domains

Protein: ENSMUSP00000141344
Gene: ENSMUSG00000022995

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.4%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	TACCT	TACCTGACCT	17: 24,287,727		probably null	Het
Acap3	CTGCTG	CTGCTGCATCCTGGGATGCTG	4: 155,905,102		probably benign	Het
Arid1b	GCG	GCGTCG	17: 4,995,588		probably benign	Het
Blm	CTCC	CTCCTCCTCCTCGTCC	7: 80,512,930		probably benign	Het
Cacna1f	GAG	GAGTAG	X: 7,620,063		probably null	Het
Calhm1	C	CTGTGGCCGTGG	19: 47,141,283		probably null	Het
Cluh	CCCGAGCC	CCCGAGCCCGAGCC	11: 74,669,515		probably benign	Het
Cyb5r4	ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,413		probably benign	Het
Dmkn	GT	GTTGTGAAAGTGGTGGAAGTGGTGGAATT	7: 30,767,182		probably benign	Het
Efhd2	CGCC	CGCCGCAGCC	4: 141,874,772		probably benign	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,511,778		probably benign	Het
H2-T10	TTTCCCACTGTA	T	17: 36,120,294		probably null	Het
Ifi207	GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC	GCCTGAGCTGTGGAAGTCTC	1: 173,735,157		probably benign	Het
Igf1r	GATGGAGC	GATGGAGCTGGATATGGAGC	7: 68,226,179		probably benign	Het
Krtap28-10	AGCCACAGCCACCACAGCCACAGCCACCAC	AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC	1: 83,042,258		probably benign	Het
Lmx1b	TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA	TACATCTTGATGCCGTCCA	2: 33,640,489		probably null	Het
Med12l	CAG	CAGAAG	3: 59,275,981		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,275,985		probably benign	Het
Med12l	GCA	GCACCA	3: 59,275,989		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,419,711		probably benign	Het
Nf2	AAAAG	A	11: 4,829,936		probably null	Het
Nusap1	TTAGCAGTGAGGAGCAAGCTGAGA	TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA	2: 119,627,587		probably benign	Het
Olfr418	GTGACATC	G	1: 173,270,709		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972		probably benign	Het
Pik3c2g	G	GGAGA	6: 139,635,658		probably null	Het
Pou3f1	GGCGGCCG	GGCGGCCGCGGCCG	4: 124,657,805		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC	5: 90,608,939		probably benign	Het
Reep1	CC	CCCGAC	6: 71,707,968		probably null	Het
Slc12a1	ACAAACC	ACAAACCTTTGGCCACCAAACC	2: 125,154,210		probably benign	Het
Smpx	CCCCCCA	C	X: 157,720,923		probably benign	Het
Spaca1	TCGC	TCGCTCACGC	4: 34,049,854		probably benign	Het
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,727,666		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,616,063		probably benign	Het
Tgoln1	T	TCACCTCCCGTGGGCTTGCCAGAAG	6: 72,616,074		probably benign	Het
Triobp	CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	15: 78,967,036		probably benign	Het
Vat1l	C	T	8: 114,289,329	L320F	probably damaging	Het
Zfhx3	CAGCAACAG	CAGCAACAGAAGCAACAG	8: 108,956,092		probably benign	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
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
RF024:Enah	UTSW	1	181921934	frame shift	probably null
RF038:Enah	UTSW	1	181921935	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCCAGCTCAGGATTTAGAGGG -3'
(R):5'- TCCTCCAATAATGATTAGCAGCC -3'

Sequencing Primer
(F):5'- CAGCTCAGGATTTAGAGGGGTCTC -3'
(R):5'- CCCCCTGGCAAAGCTACTG -3'

Posted On

2019-12-04