Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01532:Nes'

89810

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nes

Ensembl Gene

ENSMUSG00000004891

Gene Name

nestin

Synonyms

ESTM46

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.567) question?

Stock #

IGL01532

Quality Score

Status

Chromosome

Chromosomal Location

87971078-87980451 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 87978347 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1260 (D1260E)

Ref Sequence

ENSEMBL: ENSMUSP00000125571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090973] [ENSMUST00000160694]

Predicted Effect

probably benign
Transcript: ENSMUST00000090973
AA Change: D1304E

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000088493
Gene: ENSMUSG00000004891
AA Change: D1304E

Domain	Start	End	E-Value	Type
Filament	7	313	1.81e-37	SMART
low complexity region	439	448	N/A	INTRINSIC
internal_repeat_2	470	771	2.37e-7	PROSPERO
internal_repeat_1	614	832	5.41e-11	PROSPERO
internal_repeat_2	851	1174	2.37e-7	PROSPERO
internal_repeat_1	1064	1304	5.41e-11	PROSPERO
low complexity region	1347	1366	N/A	INTRINSIC
low complexity region	1426	1438	N/A	INTRINSIC
low complexity region	1653	1683	N/A	INTRINSIC
low complexity region	1713	1724	N/A	INTRINSIC
low complexity region	1741	1760	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159830

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160694
AA Change: D1260E

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125571
Gene: ENSMUSG00000004891
AA Change: D1260E

Domain	Start	End	E-Value	Type
Pfam:Filament	7	313	3.5e-29	PFAM
low complexity region	439	448	N/A	INTRINSIC
internal_repeat_2	456	672	1.06e-5	PROSPERO
internal_repeat_1	470	798	1.21e-11	PROSPERO
internal_repeat_1	807	1134	1.21e-11	PROSPERO
internal_repeat_2	1024	1213	1.06e-5	PROSPERO
low complexity region	1303	1322	N/A	INTRINSIC
low complexity region	1382	1394	N/A	INTRINSIC
low complexity region	1609	1639	N/A	INTRINSIC
low complexity region	1669	1680	N/A	INTRINSIC
low complexity region	1697	1716	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele display a high incidence of embryonic lethality, reduced embryo and birth body size, and fewer neural stem cells and increased apoptosis in the neuroepithelium of the developing neural tube. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	C	A	7: 66,908,601	N264K	probably damaging	Het
Adgrl3	C	T	5: 81,694,569	T260I	probably damaging	Het
Ambra1	G	T	2: 91,885,632	K769N	probably damaging	Het
Arel1	A	G	12: 84,934,162	V357A	possibly damaging	Het
Atp11b	T	A	3: 35,849,502	C76*	probably null	Het
AW112010	C	A	19: 11,048,069		noncoding transcript	Het
Bfar	A	T	16: 13,687,387		probably benign	Het
Ccdc70	T	G	8: 21,973,283	L30V	probably damaging	Het
Chrm5	C	T	2: 112,479,232	R513Q	probably benign	Het
Crem	G	A	18: 3,276,732	T7I	probably benign	Het
Cyp4f39	C	T	17: 32,470,954		probably benign	Het
Dlg5	T	C	14: 24,158,592	T849A	probably benign	Het
Dock8	G	T	19: 25,169,441	G1428V	probably damaging	Het
Eomes	T	C	9: 118,482,249	I380T	probably damaging	Het
Fam13a	T	C	6: 58,940,295	D532G	probably damaging	Het
Fopnl	A	G	16: 14,304,511	S130P	probably benign	Het
Gm10061	G	T	16: 89,151,302	*55L	probably null	Het
Gm27438	T	G	2: 87,252,925		probably benign	Het
Gpalpp1	T	C	14: 76,102,502	K124E	probably benign	Het
Hgs	T	A	11: 120,477,509		probably null	Het
Hpn	T	A	7: 31,103,513	M121L	possibly damaging	Het
Il1r1	T	C	1: 40,294,928		probably null	Het
Jag2	A	T	12: 112,914,363	C583S	probably damaging	Het
Katnal2	T	C	18: 77,012,000	H146R	probably benign	Het
Ldah	T	C	12: 8,220,596		probably benign	Het
Lvrn	T	A	18: 46,900,484	Y921N	probably damaging	Het
Muc5b	A	G	7: 141,870,006	Y4572C	possibly damaging	Het
Myo16	A	G	8: 10,400,551	S518G	probably benign	Het
Ncf1	T	C	5: 134,226,593	N148S	probably benign	Het
Nup210	C	A	6: 91,085,999		probably benign	Het
Olfr548-ps1	T	C	7: 102,542,656	L240P	probably damaging	Het
Rnf31	C	A	14: 55,602,623	Q968K	probably damaging	Het
Ros1	A	G	10: 52,090,938		probably benign	Het
Ryk	T	C	9: 102,897,266	Y400H	probably benign	Het
Slc4a5	T	A	6: 83,273,040		probably null	Het
Sptssb	A	G	3: 69,820,869		probably benign	Het
Sstr5	T	C	17: 25,491,331	D308G	probably damaging	Het
Taf2	A	G	15: 55,049,486	W493R	possibly damaging	Het
Vmn2r28	T	A	7: 5,486,464	I459L	probably benign	Het
Vti1b	A	C	12: 79,165,138	L1W	probably null	Het
Wdr1	T	C	5: 38,535,187	Y125C	probably damaging	Het

Other mutations in Nes

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Nes	APN	3	87976254	nonsense	probably null
IGL01544:Nes	APN	3	87977964	missense	possibly damaging	0.93
IGL02609:Nes	APN	3	87977221	missense	probably benign	0.33
IGL02877:Nes	APN	3	87975661	missense	probably benign	0.04
IGL02937:Nes	APN	3	87979879	missense	probably benign
R0271:Nes	UTSW	3	87978642	missense	possibly damaging	0.91
R0587:Nes	UTSW	3	87978569	missense	probably benign	0.08
R0625:Nes	UTSW	3	87977172	missense	possibly damaging	0.91
R0741:Nes	UTSW	3	87978967	missense	probably damaging	0.98
R1256:Nes	UTSW	3	87976576	missense	probably benign
R1630:Nes	UTSW	3	87977677	missense	probably benign	0.32
R1702:Nes	UTSW	3	87975979	missense	probably benign	0.04
R1724:Nes	UTSW	3	87977441	missense	probably benign
R1738:Nes	UTSW	3	87976421	nonsense	probably null
R1853:Nes	UTSW	3	87975807	missense	possibly damaging	0.91
R1946:Nes	UTSW	3	87978514	missense	possibly damaging	0.79
R1971:Nes	UTSW	3	87978327	missense	possibly damaging	0.81
R2013:Nes	UTSW	3	87976678	missense	possibly damaging	0.51
R2111:Nes	UTSW	3	87977311	missense	probably benign	0.04
R2232:Nes	UTSW	3	87978931	missense	possibly damaging	0.93
R2392:Nes	UTSW	3	87975943	missense	probably benign	0.08
R3548:Nes	UTSW	3	87973122	splice site	probably benign
R3937:Nes	UTSW	3	87971236	missense	probably benign	0.02
R4239:Nes	UTSW	3	87979359	missense	probably damaging	1.00
R4240:Nes	UTSW	3	87979359	missense	probably damaging	1.00
R4426:Nes	UTSW	3	87976042	missense	probably damaging	0.96
R4493:Nes	UTSW	3	87976813	missense	probably damaging	0.96
R4494:Nes	UTSW	3	87976813	missense	probably damaging	0.96
R4674:Nes	UTSW	3	87971795	missense	possibly damaging	0.51
R4772:Nes	UTSW	3	87976179	missense	probably benign	0.02
R4959:Nes	UTSW	3	87975676	missense	probably damaging	0.99
R4973:Nes	UTSW	3	87975676	missense	probably damaging	0.99
R5055:Nes	UTSW	3	87977214	missense	probably benign
R5207:Nes	UTSW	3	87978628	missense	probably damaging	1.00
R5289:Nes	UTSW	3	87978418	missense	probably damaging	0.98
R5420:Nes	UTSW	3	87977002	missense	probably damaging	0.99
R5424:Nes	UTSW	3	87978824	missense	possibly damaging	0.94
R5697:Nes	UTSW	3	87977848	missense	probably damaging	0.96
R5940:Nes	UTSW	3	87975952	missense	probably damaging	0.99
R6661:Nes	UTSW	3	87976936	missense	probably damaging	0.96
R6905:Nes	UTSW	3	87978678	missense	probably damaging	0.99
R7087:Nes	UTSW	3	87979758	missense	probably benign	0.00
R7356:Nes	UTSW	3	87977751	missense	possibly damaging	0.93
R7810:Nes	UTSW	3	87975616	missense	probably benign	0.02
R8039:Nes	UTSW	3	87977008	missense	probably benign	0.00
R8401:Nes	UTSW	3	87978081	missense	possibly damaging	0.73
R8486:Nes	UTSW	3	87980013	missense	probably damaging	0.96
X0019:Nes	UTSW	3	87977418	missense	probably benign	0.15
X0062:Nes	UTSW	3	87977726	missense	probably benign

Posted On

2013-12-03