Mutagenetix > Incidental Mutation

Incidental Mutation 'R7759:Enah'

597709

Institutional Source

Beutler Lab

Gene Symbol

Enah

Ensembl Gene

ENSMUSG00000022995

Gene Name

ENAH actin regulator

Synonyms

Mena, Ndpp1

MMRRC Submission

045815-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.756) question?

Stock #

R7759 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

181723949-181847555 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 181746009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 687 (A687V)

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

unknown
Transcript: ENSMUST00000078719
AA Change: A687V

SMART Domains

Protein: ENSMUSP00000077781
Gene: ENSMUSG00000022995
AA Change: A687V

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

SMART Domains

Protein: ENSMUSP00000106653
Gene: ENSMUSG00000022995
AA Change: A424V

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 damaging
Transcript: ENSMUST00000111025
AA Change: A390V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106654
Gene: ENSMUSG00000022995
AA Change: A390V

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: A672V

SMART Domains

Protein: ENSMUSP00000106659
Gene: ENSMUSG00000022995
AA Change: A672V

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: A672V

SMART Domains

Protein: ENSMUSP00000136863
Gene: ENSMUSG00000022995
AA Change: A672V

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 benign
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 damaging
Transcript: ENSMUST00000193074
AA Change: A407V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141936
Gene: ENSMUSG00000022995
AA Change: A407V

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 damaging
Transcript: ENSMUST00000193703
AA Change: A424V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141462
Gene: ENSMUSG00000022995
AA Change: A424V

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

unknown
Transcript: ENSMUST00000195059
AA Change: A668V

SMART Domains

Protein: ENSMUSP00000141344
Gene: ENSMUSG00000022995
AA Change: A668V

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	T	16: 4,682,514 (GRCm39)	G215V	probably benign	Het
Adamts1	C	A	16: 85,594,683 (GRCm39)	G652C	probably damaging	Het
Adck1	G	A	12: 88,368,887 (GRCm39)	A122T	possibly damaging	Het
Akap1	A	C	11: 88,736,659 (GRCm39)	M34R	probably damaging	Het
Apc2	C	T	10: 80,147,030 (GRCm39)	R695C	probably damaging	Het
Apon	T	A	10: 128,090,384 (GRCm39)	W21R	probably benign	Het
Arhgef16	T	C	4: 154,371,432 (GRCm39)	T254A	probably benign	Het
Arid5b	T	A	10: 67,933,632 (GRCm39)	S757C	probably damaging	Het
B020004C17Rik	A	C	14: 57,254,242 (GRCm39)	I122L	possibly damaging	Het
Bckdhb	T	G	9: 83,892,379 (GRCm39)	V270G	probably damaging	Het
Cacna1d	A	G	14: 29,821,145 (GRCm39)	Y1146H	probably benign	Het
Carmil2	A	G	8: 106,423,668 (GRCm39)	D1214G	possibly damaging	Het
Ccdc142	T	C	6: 83,084,912 (GRCm39)	V636A	probably benign	Het
Chd9	T	C	8: 91,704,178 (GRCm39)		probably null	Het
Csmd3	A	G	15: 47,561,569 (GRCm39)	S1336P		Het
Cubn	A	G	2: 13,352,961 (GRCm39)	Y1926H	probably damaging	Het
Dock4	A	T	12: 40,867,735 (GRCm39)	D1437V	probably damaging	Het
Eme1	A	T	11: 94,536,666 (GRCm39)	Y504*	probably null	Het
Endou	A	C	15: 97,611,747 (GRCm39)	V339G	probably damaging	Het
Ephb6	G	A	6: 41,591,539 (GRCm39)	R232H	probably benign	Het
Ephx2	G	A	14: 66,326,968 (GRCm39)	A409V	possibly damaging	Het
Esd	T	A	14: 74,983,007 (GRCm39)	C219*	probably null	Het
Fscb	A	T	12: 64,520,866 (GRCm39)	M200K	probably benign	Het
Gabra6	A	T	11: 42,208,508 (GRCm39)	V108D	probably damaging	Het
Gm11555	A	G	11: 99,540,568 (GRCm39)	V137A	unknown	Het
Gpld1	A	G	13: 25,146,383 (GRCm39)	D209G	probably damaging	Het
Ikzf1	T	A	11: 11,719,256 (GRCm39)	I408N	probably damaging	Het
Itgb4	A	G	11: 115,894,536 (GRCm39)	R1364G	possibly damaging	Het
Kif26b	A	C	1: 178,506,509 (GRCm39)	K195T	probably damaging	Het
Mfsd12	T	C	10: 81,199,427 (GRCm39)	W440R	probably benign	Het
Mtrr	C	T	13: 68,718,146 (GRCm39)	E373K	probably damaging	Het
Mug2	T	A	6: 122,058,317 (GRCm39)	V1293E	probably damaging	Het
Myof	C	A	19: 37,928,346 (GRCm39)	A1068S	probably benign	Het
Ncam2	A	G	16: 81,412,672 (GRCm39)	D720G	probably damaging	Het
Nova2	G	T	7: 18,692,176 (GRCm39)	G435V		Het
Oacyl	T	A	18: 65,843,631 (GRCm39)	D109E	probably damaging	Het
Or2y1g	A	T	11: 49,171,463 (GRCm39)	M163L	probably benign	Het
Or56a4	G	A	7: 104,806,232 (GRCm39)	S219F	probably damaging	Het
Pdcd11	G	A	19: 47,101,637 (GRCm39)	V941M	possibly damaging	Het
Pdzd8	C	A	19: 59,288,358 (GRCm39)	R1014L	probably damaging	Het
Ppm1h	T	G	10: 122,740,018 (GRCm39)	D364E	probably benign	Het
Rigi	C	A	4: 40,225,104 (GRCm39)	A298S	probably damaging	Het
Rp1	T	C	1: 4,415,107 (GRCm39)	N2002D	probably benign	Het
Sall1	C	T	8: 89,768,979 (GRCm39)		probably null	Het
Scn10a	C	T	9: 119,477,198 (GRCm39)	W728*	probably null	Het
Setdb2	G	T	14: 59,656,813 (GRCm39)	T168K	probably damaging	Het
Sgms1	T	C	19: 32,137,276 (GRCm39)	I97V	probably benign	Het
Slc8a3	A	T	12: 81,361,325 (GRCm39)	M498K	probably benign	Het
Smpd4	A	T	16: 17,456,497 (GRCm39)	E362D	probably damaging	Het
Ssc5d	A	T	7: 4,940,529 (GRCm39)	K881*	probably null	Het
Strn4	A	G	7: 16,564,309 (GRCm39)	E313G	probably damaging	Het
Tas2r113	A	T	6: 132,870,890 (GRCm39)	N306I	possibly damaging	Het
Tdrd6	G	T	17: 43,935,730 (GRCm39)	R1773S	probably benign	Het
Thbs2	T	C	17: 14,897,321 (GRCm39)	E729G	probably damaging	Het
Tnfrsf23	G	A	7: 143,224,572 (GRCm39)	T135I	probably damaging	Het
Tollip	A	G	7: 141,438,276 (GRCm39)	M218T	probably benign	Het
Tyk2	A	T	9: 21,031,554 (GRCm39)		probably null	Het
Ubr2	G	A	17: 47,296,974 (GRCm39)	R269C	probably damaging	Het
Uggt1	A	T	1: 36,185,806 (GRCm39)	M1459K	possibly damaging	Het
Upf1	A	G	8: 70,786,730 (GRCm39)	V929A	probably benign	Het
Usp48	T	C	4: 137,321,763 (GRCm39)	S24P	probably benign	Het
Vmn1r214	G	A	13: 23,218,631 (GRCm39)	E42K	not run	Het
Vmn1r83	G	T	7: 12,055,360 (GRCm39)	D232E	probably benign	Het
Vmn2r25	C	T	6: 123,800,339 (GRCm39)	V668I	probably damaging	Het
Vmn2r6	A	G	3: 64,463,991 (GRCm39)	I281T	probably damaging	Het
Ywhag	A	T	5: 135,940,043 (GRCm39)	Y184N	probably damaging	Het
Zdbf2	A	C	1: 63,347,535 (GRCm39)	E1971D	possibly damaging	Het
Zfp568	G	A	7: 29,722,839 (GRCm39)	A595T	possibly damaging	Het
Zfy2	T	C	Y: 2,117,083 (GRCm39)	D248G	probably benign	Het

Other mutations in Enah

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Enah	APN	1	181,763,261 (GRCm39)	intron	probably benign
IGL01996:Enah	APN	1	181,784,070 (GRCm39)	missense	unknown
R0025:Enah	UTSW	1	181,740,938 (GRCm39)	missense	possibly damaging	0.53
R0612:Enah	UTSW	1	181,734,013 (GRCm39)	splice site	probably benign
R1005:Enah	UTSW	1	181,789,495 (GRCm39)	splice site	probably benign
R1075:Enah	UTSW	1	181,784,066 (GRCm39)	missense	unknown
R1589:Enah	UTSW	1	181,749,858 (GRCm39)	missense	probably damaging	1.00
R1601:Enah	UTSW	1	181,747,185 (GRCm39)	nonsense	probably null
R1607:Enah	UTSW	1	181,744,762 (GRCm39)	critical splice donor site	probably null
R1785:Enah	UTSW	1	181,783,994 (GRCm39)	missense	unknown
R2035:Enah	UTSW	1	181,749,537 (GRCm39)	missense	probably damaging	1.00
R2037:Enah	UTSW	1	181,749,537 (GRCm39)	missense	probably damaging	1.00
R2119:Enah	UTSW	1	181,749,318 (GRCm39)	missense	probably damaging	0.98
R2180:Enah	UTSW	1	181,746,024 (GRCm39)	missense	probably damaging	1.00
R2233:Enah	UTSW	1	181,749,537 (GRCm39)	missense	probably damaging	1.00
R4348:Enah	UTSW	1	181,749,985 (GRCm39)	missense	possibly damaging	0.94
R4350:Enah	UTSW	1	181,749,985 (GRCm39)	missense	possibly damaging	0.94
R4576:Enah	UTSW	1	181,747,128 (GRCm39)	missense	possibly damaging	0.79
R4956:Enah	UTSW	1	181,745,854 (GRCm39)	missense	probably damaging	0.98
R5230:Enah	UTSW	1	181,763,235 (GRCm39)	intron	probably benign
R5282:Enah	UTSW	1	181,763,293 (GRCm39)	splice site	probably null
R5505:Enah	UTSW	1	181,734,018 (GRCm39)	splice site	probably benign
R5813:Enah	UTSW	1	181,758,750 (GRCm39)	intron	probably benign
R6324:Enah	UTSW	1	181,746,136 (GRCm39)	missense	probably damaging	1.00
R6374:Enah	UTSW	1	181,751,145 (GRCm39)	missense	unknown
R6503:Enah	UTSW	1	181,746,076 (GRCm39)	missense	probably damaging	1.00
R6513:Enah	UTSW	1	181,841,920 (GRCm39)	intron	probably benign
R6925:Enah	UTSW	1	181,733,464 (GRCm39)	critical splice acceptor site	probably null
R6925:Enah	UTSW	1	181,733,463 (GRCm39)	critical splice acceptor site	probably null
R7184:Enah	UTSW	1	181,749,957 (GRCm39)	missense	probably damaging	0.99
R7308:Enah	UTSW	1	181,733,950 (GRCm39)	critical splice donor site	probably null
R7453:Enah	UTSW	1	181,789,470 (GRCm39)	missense	unknown
R9060:Enah	UTSW	1	181,749,817 (GRCm39)	missense	probably damaging	1.00
R9137:Enah	UTSW	1	181,739,160 (GRCm39)	critical splice donor site	probably null
R9335:Enah	UTSW	1	181,749,450 (GRCm39)	missense	probably damaging	1.00
R9458:Enah	UTSW	1	181,746,107 (GRCm39)	missense	unknown
R9759:Enah	UTSW	1	181,841,911 (GRCm39)	missense	unknown
RF024:Enah	UTSW	1	181,749,499 (GRCm39)	frame shift	probably null
RF032:Enah	UTSW	1	181,749,494 (GRCm39)	frame shift	probably null
RF038:Enah	UTSW	1	181,749,500 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCACATGCGTCTCTGAATGAAC -3'
(R):5'- GAAGTCCATGTTATTCACTCTCTTGG -3'

Sequencing Primer
(F):5'- CATGCGTCTCTGAATGAACTGAGAG -3'
(R):5'- TGGAATCAATAACATGTTCTTCTGTG -3'

Posted On

2019-11-26