Incidental Mutation 'R5420:Nes'
ID 427972
Institutional Source Beutler Lab
Gene Symbol Nes
Ensembl Gene ENSMUSG00000004891
Gene Name nestin
Synonyms Marc2, RC2, ESTM46, Ifaprc2
MMRRC Submission 042988-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.547) question?
Stock # R5420 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 87878400-87887758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87884309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 812 (N812I)
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: N856I

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000088493
Gene: ENSMUSG00000004891
AA Change: N856I

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000160694
AA Change: N812I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125571
Gene: ENSMUSG00000004891
AA Change: N812I

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0973 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 97% (66/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 TGCGCAGC T 19: 4,915,372 (GRCm39) probably null Het
Adamts1 A T 16: 85,596,497 (GRCm39) C117* probably null Het
Adgrg6 A T 10: 14,302,730 (GRCm39) Y894* probably null Het
Alas1 G T 9: 106,111,358 (GRCm39) L603I probably benign Het
Arhgap21 G T 2: 20,885,897 (GRCm39) R427S probably damaging Het
Arhgef25 A T 10: 127,023,143 (GRCm39) V88D probably benign Het
Bdp1 T C 13: 100,202,551 (GRCm39) Q691R possibly damaging Het
Bpifa6 T A 2: 153,831,250 (GRCm39) I272N probably damaging Het
Cacybp T C 1: 160,035,914 (GRCm39) probably benign Het
Capn3 T C 2: 120,325,777 (GRCm39) probably benign Het
Ccdc47 C T 11: 106,101,176 (GRCm39) R162Q probably benign Het
Cideb A C 14: 55,995,748 (GRCm39) M1R probably null Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Crebbp C T 16: 3,925,322 (GRCm39) R760H probably damaging Het
Cyp2c23 A C 19: 44,004,103 (GRCm39) probably null Het
Cyp3a13 T G 5: 137,897,243 (GRCm39) D357A probably damaging Het
Dip2b C T 15: 100,103,054 (GRCm39) probably benign Het
Ecm2 A T 13: 49,681,210 (GRCm39) R448S possibly damaging Het
Edil3 T C 13: 89,279,891 (GRCm39) Y190H probably damaging Het
Eps8l1 T G 7: 4,473,160 (GRCm39) probably null Het
Eps8l3 A T 3: 107,791,301 (GRCm39) K280* probably null Het
Fam184a A G 10: 53,509,753 (GRCm39) F1137L probably damaging Het
Fmn2 A T 1: 174,526,344 (GRCm39) R1388* probably null Het
Glt8d2 T C 10: 82,488,516 (GRCm39) K318R probably benign Het
Herc2 A T 7: 55,853,578 (GRCm39) K3690I probably damaging Het
Ifi206 T A 1: 173,308,599 (GRCm39) I466F possibly damaging Het
Jade2 T C 11: 51,709,434 (GRCm39) K525R probably benign Het
Kmt2a A T 9: 44,759,633 (GRCm39) F772I probably damaging Het
Lipi A G 16: 75,352,757 (GRCm39) V360A possibly damaging Het
Mbl1 C T 14: 40,879,153 (GRCm39) S108L possibly damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mrpl23 A G 7: 142,089,874 (GRCm39) T25A probably damaging Het
Mto1 T A 9: 78,360,109 (GRCm39) M199K probably benign Het
Nfkbie T A 17: 45,871,132 (GRCm39) D261E probably benign Het
Or7e173 T C 9: 19,938,355 (GRCm39) Y293C probably damaging Het
Pakap G A 4: 57,856,062 (GRCm39) V505I probably benign Het
Pakap T A 4: 57,856,434 (GRCm39) Y588N probably damaging Het
Papola A G 12: 105,772,754 (GRCm39) I114V possibly damaging Het
Pappa T G 4: 65,254,017 (GRCm39) probably null Het
Pcdh7 T A 5: 57,877,529 (GRCm39) D361E probably damaging Het
Pick1 A G 15: 79,133,040 (GRCm39) T367A probably benign Het
Plbd2 A G 5: 120,632,547 (GRCm39) Y152H probably damaging Het
Ppfia2 A T 10: 106,671,562 (GRCm39) E424D possibly damaging Het
Rab7b C T 1: 131,626,164 (GRCm39) T64I probably damaging Het
Rarb T A 14: 16,434,249 (GRCm38) I310F possibly damaging Het
Rdh16f2 C T 10: 127,712,943 (GRCm39) P314S possibly damaging Het
Rpain A T 11: 70,868,516 (GRCm39) probably null Het
Rufy3 T C 5: 88,788,518 (GRCm39) *488Q probably null Het
Sash1 G A 10: 8,621,950 (GRCm39) T398I probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scrn1 T A 6: 54,489,048 (GRCm39) I358F probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Thbs1 G T 2: 117,943,636 (GRCm39) D85Y possibly damaging Het
Thoc2l T A 5: 104,666,225 (GRCm39) I249N probably damaging Het
Trp53 T C 11: 69,479,146 (GRCm39) probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r223 A G 13: 23,433,675 (GRCm39) R90G probably benign Het
Zfp521 A T 18: 13,977,144 (GRCm39) Y1090N probably damaging Het
Zfp677 T C 17: 21,618,175 (GRCm39) C411R probably damaging Het
Other mutations in Nes
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CCAGCAGGCATTTAGACTTCTGG -3'
(R):5'- AGTCTTGTCTTCTAGCAGGCTC -3'

Sequencing Primer
(F):5'- CAGGCATTTAGACTTCTGGAGAAAG -3'
(R):5'- CTAGCAGGCTCTTAATCATGTGGTC -3'
Posted On 2016-09-01