Mutagenetix > Incidental Mutation

Incidental Mutation 'R1589:Enah'

177687

Institutional Source

Beutler Lab

Gene Symbol

Enah

Ensembl Gene

ENSMUSG00000022995

Gene Name

ENAH actin regulator

Synonyms

Ndpp1, Mena

MMRRC Submission

039626-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.746) question?

Stock #

R1589 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

181896384-182019990 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 181922293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 327 (T327K)

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 damaging
Transcript: ENSMUST00000078719
AA Change: T327K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077781
Gene: ENSMUSG00000022995
AA Change: T327K

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 damaging
Transcript: ENSMUST00000111030
AA Change: T312K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106659
Gene: ENSMUSG00000022995
AA Change: T312K

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 damaging
Transcript: ENSMUST00000177811
AA Change: T312K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136863
Gene: ENSMUSG00000022995
AA Change: T312K

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 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 damaging
Transcript: ENSMUST00000195059
AA Change: T308K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141344
Gene: ENSMUSG00000022995
AA Change: T308K

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

Meta Mutation Damage Score

0.1134

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,620,441		probably benign	Het
Aadacl2	C	T	3: 60,010,576	T82I	probably benign	Het
Acadl	T	C	1: 66,853,223	N147S	probably benign	Het
Actr3	A	T	1: 125,408,563	M79K	probably damaging	Het
Agbl3	A	G	6: 34,857,517	S874G	possibly damaging	Het
Aoah	A	T	13: 21,002,948	T472S	probably damaging	Het
Asb16	A	T	11: 102,268,995	D58V	probably damaging	Het
B4galt1	T	C	4: 40,823,575	D172G	probably benign	Het
Bax	T	C	7: 45,465,247	N55S	possibly damaging	Het
Bdkrb2	A	G	12: 105,591,859	N120D	possibly damaging	Het
Bicdl1	T	C	5: 115,651,266		probably benign	Het
Cand1	A	G	10: 119,213,566	L425P	probably damaging	Het
Caskin1	G	A	17: 24,505,478		probably null	Het
Cd248	C	T	19: 5,069,932	P603S	probably benign	Het
Cep95	G	T	11: 106,800,104	R143L	probably benign	Het
Clptm1l	G	T	13: 73,614,673		probably null	Het
Cntnap5a	T	C	1: 116,060,200	F154L	possibly damaging	Het
Cyld	A	T	8: 88,709,990	I303F	possibly damaging	Het
Dock2	A	G	11: 34,706,461	S370P	probably damaging	Het
Farp2	A	T	1: 93,579,860	S427C	probably damaging	Het
Fbxw11	C	T	11: 32,733,612	T301M	probably damaging	Het
Foxc2	A	T	8: 121,117,176	T188S	probably benign	Het
Fzd2	A	G	11: 102,606,328	T533A	probably benign	Het
Glb1l2	G	T	9: 26,769,038	S248*	probably null	Het
Glul	A	T	1: 153,905,538		probably benign	Het
Gm28042	A	G	2: 120,041,406	T946A	probably benign	Het
Golga3	T	A	5: 110,181,783	D2E	probably damaging	Het
Grm1	A	T	10: 10,719,967	F639Y	probably benign	Het
Gzmn	A	G	14: 56,165,911	L247P	probably benign	Het
Hgf	T	G	5: 16,613,785	I525R	probably damaging	Het
Hnrnpul2	T	A	19: 8,831,332	D719E	probably benign	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Itga9	T	C	9: 118,607,117		probably null	Het
Itgb1	T	A	8: 128,705,458	C16S	probably damaging	Het
Itgb1	G	T	8: 128,705,459	C16F	possibly damaging	Het
Kat14	A	G	2: 144,394,100	I251V	probably benign	Het
Kdsr	A	T	1: 106,734,541		probably null	Het
Kif12	T	A	4: 63,166,500	E527V	probably benign	Het
Larp1b	T	C	3: 41,033,474	S44P	probably damaging	Het
Lonp2	T	C	8: 86,673,072		probably benign	Het
Lrp1	C	T	10: 127,605,606	S216N	probably benign	Het
Lrrc19	T	C	4: 94,640,950	S32G	probably benign	Het
Mdm2	G	A	10: 117,690,529	T335M	probably benign	Het
Mettl25	A	G	10: 105,779,632	Y504H	probably damaging	Het
Mill1	T	C	7: 18,245,647	I13T	probably benign	Het
Mmachc	T	A	4: 116,703,524	Q258L	probably benign	Het
Mpdz	T	A	4: 81,421,176	I5L	probably benign	Het
Mrps2	C	T	2: 28,469,488	A119V	probably benign	Het
Mtmr11	A	G	3: 96,168,113	T370A	probably benign	Het
Nmi	T	C	2: 51,958,977	I34V	possibly damaging	Het
Obscn	A	T	11: 59,036,075	M5538K	possibly damaging	Het
Ogdhl	T	C	14: 32,325,865	I24T	probably benign	Het
Olfr1477	C	T	19: 13,502,757	T138M	probably benign	Het
Olfr675	A	G	7: 105,024,560	V140A	probably benign	Het
Olfr703	A	G	7: 106,845,196	Y195C	possibly damaging	Het
Olfr816	A	G	10: 129,911,681	V199A	probably benign	Het
Omp	G	T	7: 98,145,359	D20E	probably benign	Het
Otog	A	G	7: 46,283,908	H1291R	probably benign	Het
Pgbd1	A	G	13: 21,423,292	L244P	probably damaging	Het
Ranbp2	A	G	10: 58,463,986	I481V	probably benign	Het
Rbp3	A	T	14: 33,955,792	I566F	probably damaging	Het
Rsph4a	A	G	10: 33,905,529	D125G	probably benign	Het
Scn11a	A	G	9: 119,769,807	V1219A	probably damaging	Het
Serpine3	G	A	14: 62,674,381	G264D	probably benign	Het
Slc4a10	T	C	2: 62,257,462	F400L	probably damaging	Het
Slco1a4	C	T	6: 141,845,447	V8I	probably benign	Het
Soga1	A	T	2: 157,027,637	M1026K	probably benign	Het
Spen	T	C	4: 141,488,024	D499G	unknown	Het
Stk32c	A	G	7: 139,119,015		probably null	Het
Tars	A	G	15: 11,388,175	V485A	probably benign	Het
Tcerg1l	A	G	7: 138,361,767	L258P	probably damaging	Het
Tmc2	A	T	2: 130,247,960	I622F	probably damaging	Het
Tmem183a	A	T	1: 134,354,706	N220K	probably damaging	Het
Tnni3	T	C	7: 4,520,526	D146G	probably damaging	Het
Trappc11	G	T	8: 47,501,680	D908E	probably damaging	Het
Trappc8	A	G	18: 20,863,551	Y436H	probably damaging	Het
Ttc41	G	A	10: 86,776,390	V1176I	probably benign	Het
Ube2b	A	G	11: 51,997,872	V24A	probably benign	Het
Usp30	T	C	5: 114,112,961	C233R	probably damaging	Het
Vmn1r87	T	A	7: 13,131,776	T195S	possibly damaging	Het
Vmn2r24	T	C	6: 123,806,520		probably benign	Het
Vmn2r81	C	A	10: 79,293,024	T583N	probably damaging	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Wdr1	C	A	5: 38,529,972	V239L	probably benign	Het
Wdr17	C	T	8: 54,703,907		probably benign	Het
Zfhx4	A	C	3: 5,241,729	D5A	probably damaging	Het
Zfyve27	T	C	19: 42,171,745		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGTGATCCACAGTGTGAGAGTGAGG -3'
(R):5'- TGGTGCTAACTGTCATCCACGTTTG -3'

Sequencing Primer
(F):5'- GTATGTTACAGAGTCTAGCGACCC -3'
(R):5'- GTCCAGCTCCATCTTCAGACAG -3'

Posted On

2014-04-24