Mutagenetix > Incidental Mutation

Incidental Mutation 'R4674:Nes'

348678

Institutional Source

Beutler Lab

Gene Symbol

Nes

Ensembl Gene

ENSMUSG00000004891

Gene Name

nestin

Synonyms

Marc2, RC2, ESTM46, Ifaprc2

MMRRC Submission

041929-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.547) question?

Stock #

R4674 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

87878400-87887758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87879102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 198 (V198A)

Ref Sequence

ENSEMBL: ENSMUSP00000125571 (fasta)

Gene Model

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

AlphaFold

Q6P5H2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090973
AA Change: V198A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000088493
Gene: ENSMUSG00000004891
AA Change: V198A

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: V198A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125571
Gene: ENSMUSG00000004891
AA Change: V198A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193773

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,860,615 (GRCm39)	I112T	probably benign	Het
Acvr1b	T	C	15: 101,100,939 (GRCm39)	I367T	possibly damaging	Het
Akr1b8	G	A	6: 34,333,359 (GRCm39)		probably null	Het
Ash1l	T	C	3: 88,979,783 (GRCm39)	V2769A	possibly damaging	Het
Asxl3	A	T	18: 22,650,795 (GRCm39)	D928V	probably damaging	Het
Atp1a4	A	T	1: 172,085,223 (GRCm39)	V66E	possibly damaging	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,723,108 (GRCm39)		probably null	Het
Cbx2	T	A	11: 118,919,935 (GRCm39)	I500N	probably damaging	Het
Ccdc82	A	T	9: 13,252,260 (GRCm39)	H184L	probably benign	Het
Cd84	A	T	1: 171,700,887 (GRCm39)	H216L	possibly damaging	Het
Ceacam15	T	C	7: 16,407,410 (GRCm39)	T36A	probably benign	Het
Cebpd	A	G	16: 15,705,385 (GRCm39)	D66G	probably damaging	Het
Clec1b	C	A	6: 129,377,097 (GRCm39)	L47I	probably damaging	Het
Cracr2b	A	G	7: 141,043,451 (GRCm39)	D43G	probably damaging	Het
Crbn	T	A	6: 106,767,932 (GRCm39)	Q173L	possibly damaging	Het
Cspg4	T	C	9: 56,805,489 (GRCm39)	V2100A	probably damaging	Het
Cyp46a1	T	C	12: 108,324,345 (GRCm39)	L374P	probably damaging	Het
Dhx16	T	A	17: 36,196,831 (GRCm39)	V607E	probably damaging	Het
Dido1	A	G	2: 180,329,352 (GRCm39)	S357P	probably damaging	Het
Dnah6	T	A	6: 73,169,405 (GRCm39)	I399F	probably benign	Het
Dock10	T	C	1: 80,584,337 (GRCm39)	E123G	possibly damaging	Het
Dstyk	A	G	1: 132,391,128 (GRCm39)	D843G	probably benign	Het
Efcab12	C	A	6: 115,800,610 (GRCm39)	V138F	probably damaging	Het
Egf	A	G	3: 129,511,689 (GRCm39)	F493L	probably damaging	Het
Ephx1	A	G	1: 180,822,256 (GRCm39)	F220S	probably damaging	Het
Exoc6	T	C	19: 37,597,530 (GRCm39)	F644L	probably damaging	Het
F13b	A	G	1: 139,429,542 (GRCm39)	Y20C	unknown	Het
Fam184b	T	A	5: 45,740,230 (GRCm39)	K319*	probably null	Het
Flrt2	T	A	12: 95,747,462 (GRCm39)	L600*	probably null	Het
Gbgt1	T	C	2: 28,388,453 (GRCm39)	F46S	possibly damaging	Het
Gli2	T	C	1: 118,763,759 (GRCm39)	E1464G	probably damaging	Het
Hdac9	A	G	12: 34,423,959 (GRCm39)	V501A	possibly damaging	Het
Heca	T	C	10: 17,791,057 (GRCm39)	H333R	probably benign	Het
Hirip3	G	A	7: 126,463,834 (GRCm39)		probably null	Het
Igsf8	G	A	1: 172,146,479 (GRCm39)	W51*	probably null	Het
Kif21a	C	A	15: 90,824,748 (GRCm39)	R1342L	possibly damaging	Het
Krt73	T	C	15: 101,710,510 (GRCm39)	N75D	probably benign	Het
Macf1	T	A	4: 123,366,190 (GRCm39)	Y1292F	probably benign	Het
Macroh2a1	A	C	13: 56,230,997 (GRCm39)	C297G	possibly damaging	Het
Mapk14	A	G	17: 28,963,996 (GRCm39)		probably null	Het
Mgat5	T	A	1: 127,318,495 (GRCm39)	V330D	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip1	A	T	13: 100,580,682 (GRCm39)	F188L	probably damaging	Het
Ncoa3	T	C	2: 165,901,731 (GRCm39)	S1035P	probably benign	Het
Ndn	T	A	7: 61,998,570 (GRCm39)	W139R	probably damaging	Het
Or4c107	G	T	2: 88,789,216 (GRCm39)	M135I	probably damaging	Het
Or4c35	A	G	2: 89,808,250 (GRCm39)	I43V	possibly damaging	Het
Or51ab3	T	G	7: 103,201,183 (GRCm39)	L64V	probably damaging	Het
Or52p1	T	A	7: 104,267,631 (GRCm39)	C248*	probably null	Het
Or5b111	T	A	19: 13,291,178 (GRCm39)	H157L	probably benign	Het
Or5p72	T	C	7: 108,022,309 (GRCm39)	V177A	possibly damaging	Het
Pcf11	G	A	7: 92,308,985 (GRCm39)		probably benign	Het
Pde1a	TCC	TC	2: 79,728,525 (GRCm39)		probably benign	Het
Pipox	T	G	11: 77,784,596 (GRCm39)	Q4P	probably benign	Het
Pla2g4c	C	T	7: 13,077,439 (GRCm39)	T327I	probably null	Het
Plppr1	C	T	4: 49,323,384 (GRCm39)	R225W	probably damaging	Het
Pnpla6	T	A	8: 3,571,412 (GRCm39)	V145D	probably damaging	Het
Pnpla7	T	C	2: 24,942,329 (GRCm39)	Y83H	probably damaging	Het
Rif1	T	A	2: 51,996,954 (GRCm39)	L970Q	probably null	Het
Rimklb	C	A	6: 122,433,242 (GRCm39)	E303*	probably null	Het
Rpl13a	A	T	7: 44,776,242 (GRCm39)		probably benign	Het
Rttn	T	A	18: 89,029,135 (GRCm39)		probably null	Het
Sf3b3	G	A	8: 111,571,137 (GRCm39)	R10W	probably damaging	Het
Skint4	G	A	4: 111,975,430 (GRCm39)	C130Y	probably damaging	Het
Snap91	A	G	9: 86,674,070 (GRCm39)	S593P	possibly damaging	Het
Ssb	A	G	2: 69,699,194 (GRCm39)	Q209R	probably benign	Het
Stap1	A	T	5: 86,229,044 (GRCm39)	I71L	probably benign	Het
Syna	C	A	5: 134,587,209 (GRCm39)	R580L	probably damaging	Het
Tacc2	T	A	7: 130,226,591 (GRCm39)	M1111K	possibly damaging	Het
Tanc2	T	C	11: 105,758,306 (GRCm39)	L689P	probably damaging	Het
Tasor2	T	C	13: 3,623,686 (GRCm39)	E1406G	possibly damaging	Het
Tcstv7b	T	C	13: 120,702,362 (GRCm39)	W53R	probably damaging	Het
Tdrd5	A	C	1: 156,105,005 (GRCm39)	C463W	probably damaging	Het
Tet1	A	G	10: 62,674,627 (GRCm39)	F1150L	probably damaging	Het
Tia1	T	A	6: 86,397,382 (GRCm39)	F118L	probably damaging	Het
Trav3-1	A	T	14: 52,818,460 (GRCm39)	T45S	possibly damaging	Het
Uaca	A	T	9: 60,761,711 (GRCm39)	Y235F	possibly damaging	Het
Ube4b	T	C	4: 149,415,827 (GRCm39)	N44S	possibly damaging	Het
Vmn2r93	T	A	17: 18,525,255 (GRCm39)	H304Q	probably benign	Het
Wdr18	A	G	10: 79,801,069 (GRCm39)	I161V	probably benign	Het
Zfp112	A	G	7: 23,826,399 (GRCm39)	H789R	probably damaging	Het
Zfp873	A	G	10: 81,895,814 (GRCm39)	T182A	possibly damaging	Het
Zscan2	T	A	7: 80,525,150 (GRCm39)	S290R	probably damaging	Het
Zup1	A	T	10: 33,824,980 (GRCm39)	D167E	possibly damaging	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
IGL01544:Nes	APN	3	87,885,271 (GRCm39)	missense	possibly damaging	0.93
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
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

Predicted Primers

PCR Primer
(F):5'- ACAACCTTGCCGAAGAGCTG -3'
(R):5'- CTGGAACTTTTCAGTGGCCTG -3'

Sequencing Primer
(F):5'- CGAGTTAGAGGCTCTGCGAG -3'
(R):5'- AATCTCTGTTCCAGCGCCT -3'

Posted On

2015-10-08