Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01544:Nes'

90266

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nes

Ensembl Gene

ENSMUSG00000004891

Gene Name

nestin

Synonyms

Marc2, RC2, ESTM46, Ifaprc2

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.547) question?

Stock #

IGL01544

Quality Score

Status

Chromosome

Chromosomal Location

87878400-87887758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87885271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1177 (S1177P)

Ref Sequence

ENSEMBL: ENSMUSP00000088493 (fasta)

Gene Model

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

AlphaFold

Q6P5H2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090973
AA Change: S1177P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000088493
Gene: ENSMUSG00000004891
AA Change: S1177P

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

probably benign
Transcript: ENSMUST00000160694
AA Change: S1133P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000125571
Gene: ENSMUSG00000004891
AA Change: S1133P

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	G	A	18: 38,123,889 (GRCm39)	R377C	probably damaging	Het
Bbx	C	A	16: 50,095,140 (GRCm39)	E59*	probably null	Het
Cep120	C	T	18: 53,819,033 (GRCm39)	R886H	probably benign	Het
Cep350	C	A	1: 155,828,933 (GRCm39)	V324L	probably damaging	Het
Cry1	T	A	10: 84,982,360 (GRCm39)	K329*	probably null	Het
Dhtkd1	T	C	2: 5,918,342 (GRCm39)	N627S	probably benign	Het
Dpp8	A	T	9: 64,962,270 (GRCm39)	T437S	probably benign	Het
Elovl1	G	A	4: 118,288,107 (GRCm39)		probably null	Het
Heca	A	G	10: 17,791,715 (GRCm39)	Y114H	probably damaging	Het
Hrh4	A	G	18: 13,148,950 (GRCm39)	N104S	probably benign	Het
Ift80	T	A	3: 68,898,115 (GRCm39)	K73N	probably benign	Het
Ina	T	C	19: 47,003,948 (GRCm39)	V252A	possibly damaging	Het
Klhl36	A	G	8: 120,596,755 (GRCm39)	E152G	possibly damaging	Het
Lamp5	T	A	2: 135,910,990 (GRCm39)	L241Q	probably damaging	Het
Lrp4	G	A	2: 91,307,896 (GRCm39)	R447H	probably damaging	Het
Mmp24	G	A	2: 155,641,807 (GRCm39)	G212R	probably damaging	Het
Mpp3	A	G	11: 101,909,485 (GRCm39)	V191A	possibly damaging	Het
Mtmr4	A	G	11: 87,488,437 (GRCm39)		probably benign	Het
Mynn	C	A	3: 30,661,854 (GRCm39)	S312*	probably null	Het
Neb	T	A	2: 52,182,917 (GRCm39)	I1010F	possibly damaging	Het
Noct	T	C	3: 51,155,469 (GRCm39)	V79A	probably damaging	Het
Rad1	A	G	15: 10,490,465 (GRCm39)	D114G	probably damaging	Het
Slc26a9	T	C	1: 131,687,233 (GRCm39)		probably null	Het
Sqor	G	A	2: 122,634,266 (GRCm39)		probably benign	Het
Sspo	G	T	6: 48,467,953 (GRCm39)	W4309L	probably damaging	Het
Thoc7	A	C	14: 13,953,435 (GRCm38)	Y72D	probably damaging	Het
Thra	A	G	11: 98,647,754 (GRCm39)	I43V	possibly damaging	Het
Timm44	G	T	8: 4,325,888 (GRCm39)		probably benign	Het
Trmo	C	T	4: 46,386,169 (GRCm39)	G119R	probably damaging	Het
Trpc4	T	C	3: 54,209,567 (GRCm39)	M644T	probably damaging	Het
Wdr72	C	T	9: 74,056,007 (GRCm39)	L300F	probably damaging	Het
Wrn	T	C	8: 33,814,554 (GRCm39)	T54A	probably benign	Het

Other mutations in Nes

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Nes	APN	3	87,883,561 (GRCm39)	nonsense	probably null
IGL01532:Nes	APN	3	87,885,654 (GRCm39)	missense	possibly damaging	0.54
IGL02609:Nes	APN	3	87,884,528 (GRCm39)	missense	probably benign	0.33
IGL02877:Nes	APN	3	87,882,968 (GRCm39)	missense	probably benign	0.04
IGL02937:Nes	APN	3	87,887,186 (GRCm39)	missense	probably benign
R0271:Nes	UTSW	3	87,885,949 (GRCm39)	missense	possibly damaging	0.91
R0587:Nes	UTSW	3	87,885,876 (GRCm39)	missense	probably benign	0.08
R0625:Nes	UTSW	3	87,884,479 (GRCm39)	missense	possibly damaging	0.91
R0741:Nes	UTSW	3	87,886,274 (GRCm39)	missense	probably damaging	0.98
R1256:Nes	UTSW	3	87,883,883 (GRCm39)	missense	probably benign
R1630:Nes	UTSW	3	87,884,984 (GRCm39)	missense	probably benign	0.32
R1702:Nes	UTSW	3	87,883,286 (GRCm39)	missense	probably benign	0.04
R1724:Nes	UTSW	3	87,884,748 (GRCm39)	missense	probably benign
R1738:Nes	UTSW	3	87,883,728 (GRCm39)	nonsense	probably null
R1853:Nes	UTSW	3	87,883,114 (GRCm39)	missense	possibly damaging	0.91
R1946:Nes	UTSW	3	87,885,821 (GRCm39)	missense	possibly damaging	0.79
R1971:Nes	UTSW	3	87,885,634 (GRCm39)	missense	possibly damaging	0.81
R2013:Nes	UTSW	3	87,883,985 (GRCm39)	missense	possibly damaging	0.51
R2111:Nes	UTSW	3	87,884,618 (GRCm39)	missense	probably benign	0.04
R2232:Nes	UTSW	3	87,886,238 (GRCm39)	missense	possibly damaging	0.93
R2392:Nes	UTSW	3	87,883,250 (GRCm39)	missense	probably benign	0.08
R3548:Nes	UTSW	3	87,880,429 (GRCm39)	splice site	probably benign
R3937:Nes	UTSW	3	87,878,543 (GRCm39)	missense	probably benign	0.02
R4239:Nes	UTSW	3	87,886,666 (GRCm39)	missense	probably damaging	1.00
R4240:Nes	UTSW	3	87,886,666 (GRCm39)	missense	probably damaging	1.00
R4426:Nes	UTSW	3	87,883,349 (GRCm39)	missense	probably damaging	0.96
R4493:Nes	UTSW	3	87,884,120 (GRCm39)	missense	probably damaging	0.96
R4494:Nes	UTSW	3	87,884,120 (GRCm39)	missense	probably damaging	0.96
R4674:Nes	UTSW	3	87,879,102 (GRCm39)	missense	possibly damaging	0.51
R4772:Nes	UTSW	3	87,883,486 (GRCm39)	missense	probably benign	0.02
R4959:Nes	UTSW	3	87,882,983 (GRCm39)	missense	probably damaging	0.99
R4973:Nes	UTSW	3	87,882,983 (GRCm39)	missense	probably damaging	0.99
R5055:Nes	UTSW	3	87,884,521 (GRCm39)	missense	probably benign
R5207:Nes	UTSW	3	87,885,935 (GRCm39)	missense	probably damaging	1.00
R5289:Nes	UTSW	3	87,885,725 (GRCm39)	missense	probably damaging	0.98
R5420:Nes	UTSW	3	87,884,309 (GRCm39)	missense	probably damaging	0.99
R5424:Nes	UTSW	3	87,886,131 (GRCm39)	missense	possibly damaging	0.94
R5697:Nes	UTSW	3	87,885,155 (GRCm39)	missense	probably damaging	0.96
R5940:Nes	UTSW	3	87,883,259 (GRCm39)	missense	probably damaging	0.99
R6661:Nes	UTSW	3	87,884,243 (GRCm39)	missense	probably damaging	0.96
R6905:Nes	UTSW	3	87,885,985 (GRCm39)	missense	probably damaging	0.99
R7087:Nes	UTSW	3	87,887,065 (GRCm39)	missense	probably benign	0.00
R7356:Nes	UTSW	3	87,885,058 (GRCm39)	missense	possibly damaging	0.93
R7810:Nes	UTSW	3	87,882,923 (GRCm39)	missense	probably benign	0.02
R8039:Nes	UTSW	3	87,884,315 (GRCm39)	missense	probably benign	0.00
R8401:Nes	UTSW	3	87,885,388 (GRCm39)	missense	possibly damaging	0.73
R8486:Nes	UTSW	3	87,887,320 (GRCm39)	missense	probably damaging	0.96
R8897:Nes	UTSW	3	87,886,653 (GRCm39)	missense	possibly damaging	0.53
R9032:Nes	UTSW	3	87,887,069 (GRCm39)	missense	possibly damaging	0.93
R9034:Nes	UTSW	3	87,885,735 (GRCm39)	missense	probably damaging	0.96
R9085:Nes	UTSW	3	87,887,069 (GRCm39)	missense	possibly damaging	0.93
R9137:Nes	UTSW	3	87,878,651 (GRCm39)	missense	probably damaging	1.00
R9177:Nes	UTSW	3	87,887,012 (GRCm39)	missense	probably damaging	1.00
R9607:Nes	UTSW	3	87,883,513 (GRCm39)	missense	probably benign
X0019:Nes	UTSW	3	87,884,725 (GRCm39)	missense	probably benign	0.15
X0062:Nes	UTSW	3	87,885,033 (GRCm39)	missense	probably benign

Posted On

2013-12-03