Mutagenetix > Incidental Mutation

Incidental Mutation 'R4576:Enah'

342438

Institutional Source

Beutler Lab

Gene Symbol

Enah

Ensembl Gene

ENSMUSG00000022995

Gene Name

ENAH actin regulator

Synonyms

Mena, Ndpp1

MMRRC Submission

041799-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.785) question?

Stock #

R4576 (G1)

Quality Score

141

Status

Not validated

Chromosome

Chromosomal Location

181723949-181847555 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 181747128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 298 (S298L)

Ref Sequence

ENSEMBL: ENSMUSP00000106654 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000078719
AA Change: S561L

SMART Domains

Protein: ENSMUSP00000077781
Gene: ENSMUSG00000022995
AA Change: S561L

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: S298L

SMART Domains

Protein: ENSMUSP00000106653
Gene: ENSMUSG00000022995
AA Change: S298L

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: S298L

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106654
Gene: ENSMUSG00000022995
AA Change: S298L

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: S546L

SMART Domains

Protein: ENSMUSP00000106659
Gene: ENSMUSG00000022995
AA Change: S546L

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: S546L

SMART Domains

Protein: ENSMUSP00000136863
Gene: ENSMUSG00000022995
AA Change: S546L

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

unknown
Transcript: ENSMUST00000192967
AA Change: S192L

SMART Domains

Protein: ENSMUSP00000141330
Gene: ENSMUSG00000022995
AA Change: S192L

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

unknown
Transcript: ENSMUST00000193074
AA Change: S281L

SMART Domains

Protein: ENSMUSP00000141936
Gene: ENSMUSG00000022995
AA Change: S281L

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: ENSMUST00000195059
AA Change: S542L

SMART Domains

Protein: ENSMUSP00000141344
Gene: ENSMUSG00000022995
AA Change: S542L

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: ENSMUST00000193703
AA Change: S298L

SMART Domains

Protein: ENSMUSP00000141462
Gene: ENSMUSG00000022995
AA Change: S298L

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: ENSMUST00000195788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195840

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (84/86)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adhfe1	A	T	1: 9,623,979 (GRCm39)	D160V	probably damaging	Het
Ano9	T	C	7: 140,684,051 (GRCm39)	Q538R	probably damaging	Het
Atp4a	A	G	7: 30,417,147 (GRCm39)	D510G	probably benign	Het
Atp8a1	T	C	5: 67,973,158 (GRCm39)		probably benign	Het
Auts2	C	T	5: 132,287,773 (GRCm39)	G70E	probably benign	Het
C7	A	G	15: 5,032,238 (GRCm39)	S658P	probably damaging	Het
Cdh9	T	C	15: 16,832,325 (GRCm39)	V404A	possibly damaging	Het
Cfap54	C	T	10: 92,879,090 (GRCm39)		probably null	Het
Chml	G	T	1: 175,514,506 (GRCm39)	Q129K	probably damaging	Het
Chst2	T	C	9: 95,287,224 (GRCm39)	H374R	probably damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Cirbp	A	G	10: 80,006,075 (GRCm39)	K84E	probably damaging	Het
Cln6	G	T	9: 62,746,231 (GRCm39)	Q23H	probably benign	Het
Cntn5	A	G	9: 9,673,297 (GRCm39)	M801T	probably benign	Het
Dapk1	A	T	13: 60,869,636 (GRCm39)	M293L	probably benign	Het
Ddx11	A	G	17: 66,457,721 (GRCm39)	K869E	probably damaging	Het
Ddx17	A	T	15: 79,425,347 (GRCm39)	M108K	probably benign	Het
Dnaaf5	C	A	5: 139,171,394 (GRCm39)	A557D	probably damaging	Het
Ecpas	A	T	4: 58,834,708 (GRCm39)		probably benign	Het
Edil3	T	C	13: 89,467,850 (GRCm39)	Y452H	probably damaging	Het
Elfn1	T	C	5: 139,957,808 (GRCm39)	S271P	probably benign	Het
Exoc7	T	C	11: 116,180,009 (GRCm39)	*685W	probably null	Het
Fgfbp1	C	T	5: 44,136,806 (GRCm39)	R162H	probably benign	Het
Foxj3	A	G	4: 119,478,860 (GRCm39)	S439G	unknown	Het
Fzd9	A	G	5: 135,279,166 (GRCm39)	S240P	probably damaging	Het
Gin1	A	G	1: 97,720,064 (GRCm39)	D442G	probably damaging	Het
Gm10804	C	T	2: 93,299,014 (GRCm39)		noncoding transcript	Het
Grhl3	G	T	4: 135,288,562 (GRCm39)	T41K	probably damaging	Het
H6pd	A	T	4: 150,078,933 (GRCm39)	D243E	probably damaging	Het
Heatr6	T	A	11: 83,655,826 (GRCm39)	S306T	probably benign	Het
Hkdc1	T	C	10: 62,221,622 (GRCm39)	D812G	possibly damaging	Het
Hmcn1	G	T	1: 150,610,238 (GRCm39)	T1477K	probably benign	Het
Ift80	A	G	3: 68,857,863 (GRCm39)	S261P	possibly damaging	Het
Kcnu1	A	T	8: 26,380,048 (GRCm39)	D424V	probably benign	Het
Kctd1	A	G	18: 15,140,757 (GRCm39)	S658P	probably damaging	Het
Klk12	A	G	7: 43,422,667 (GRCm39)	D198G	probably damaging	Het
Kntc1	T	G	5: 123,904,018 (GRCm39)	L345R	probably damaging	Het
Llph-ps2	A	G	X: 13,084,690 (GRCm39)		noncoding transcript	Het
Lpxn	T	C	19: 12,810,654 (GRCm39)	I366T	probably benign	Het
Lrp1	ACAGGCGC	AC	10: 127,376,057 (GRCm39)		probably benign	Het
Maml3	G	A	3: 51,763,927 (GRCm39)	Q346*	probably null	Het
Mef2a	T	C	7: 66,890,187 (GRCm39)	N131S	probably benign	Het
Mlc1	G	A	15: 88,858,740 (GRCm39)	T136M	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Pcdhga9	A	C	18: 37,870,881 (GRCm39)	N237H	probably damaging	Het
Pde4dip	C	A	3: 97,661,565 (GRCm39)	E657D	probably damaging	Het
Pknox2	A	G	9: 36,834,844 (GRCm39)		probably benign	Het
Plcb3	C	T	19: 6,936,415 (GRCm39)		probably benign	Het
Plxnd1	G	A	6: 115,945,005 (GRCm39)	A99V	probably benign	Het
Pnpla2	T	C	7: 141,037,257 (GRCm39)	S87P	probably damaging	Het
Ppp1r14c	G	T	10: 3,316,912 (GRCm39)	K82N	probably damaging	Het
Pum3	G	A	19: 27,393,308 (GRCm39)	T389M	probably benign	Het
Pxdn	A	T	12: 30,061,922 (GRCm39)	T1165S	probably benign	Het
Rasgrf2	T	C	13: 92,044,529 (GRCm39)	D925G	possibly damaging	Het
Samhd1	A	T	2: 156,943,670 (GRCm39)	C615S	probably damaging	Het
Sec16a	A	T	2: 26,321,131 (GRCm39)	Y1320*	probably null	Het
Slco6b1	T	A	1: 96,916,422 (GRCm39)		noncoding transcript	Het
Slitrk6	C	A	14: 110,987,602 (GRCm39)	V702F	probably benign	Het
Spata31d1b	C	A	13: 59,864,675 (GRCm39)	H608N	probably damaging	Het
Spef1l	A	G	7: 139,558,043 (GRCm39)	I51T	probably damaging	Het
Srpra	T	C	9: 35,125,904 (GRCm39)	I394T	possibly damaging	Het
Svop	C	T	5: 114,203,743 (GRCm39)	V13M	probably damaging	Het
Tacc3	T	A	5: 33,818,841 (GRCm39)		probably benign	Het
Tango2	A	T	16: 18,119,392 (GRCm39)	D146E	probably damaging	Het
Thbs1	G	A	2: 117,949,897 (GRCm39)	R624Q	probably damaging	Het
Tmem161a	T	C	8: 70,634,713 (GRCm39)		probably null	Het
Tmem175	A	G	5: 108,792,468 (GRCm39)	D248G	possibly damaging	Het
Traf3ip2	A	G	10: 39,510,650 (GRCm39)	N308D	probably damaging	Het
Trim30b	T	C	7: 104,006,538 (GRCm39)	Y106C	possibly damaging	Het
Trip11	G	A	12: 101,852,499 (GRCm39)	Q521*	probably null	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Ttc16	A	T	2: 32,660,071 (GRCm39)	F246I	probably benign	Het
Unc79	T	C	12: 102,968,062 (GRCm39)		probably benign	Het
Vmn1r74	A	G	7: 11,580,696 (GRCm39)		probably null	Het
Vmn2r16	A	T	5: 109,511,665 (GRCm39)	Y624F	possibly damaging	Het
Zc3h4	G	A	7: 16,168,579 (GRCm39)	R896H	unknown	Het
Zfp941	T	A	7: 140,391,503 (GRCm39)	K619*	probably null	Het
Zfp970	A	T	2: 177,167,473 (GRCm39)	H349L	probably damaging	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
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
R7759:Enah	UTSW	1	181,746,009 (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'- ACCCGGGACACTTTCCTAAG -3'
(R):5'- TCTGAGTCACTTACTTGAGCATG -3'

Sequencing Primer
(F):5'- CAAGTCCAGTTAAAGGGCGATTGTC -3'
(R):5'- GAGTCACTTACTTGAGCATGGCATTC -3'

Posted On

2015-09-24