Incidental Mutation 'R4772:Nes'
ID 367590
Institutional Source Beutler Lab
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 # R4772 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 87878400-87887758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87883486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 582 (T582A)
Ref Sequence ENSEMBL: ENSMUSP00000125571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090973] [ENSMUST00000160694]
AlphaFold Q6P5H2
Predicted Effect probably benign
Transcript: ENSMUST00000090973
AA Change: T582A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000088493
Gene: ENSMUSG00000004891
AA Change: T582A

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 benign
Transcript: ENSMUST00000160694
AA Change: T582A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000125571
Gene: ENSMUSG00000004891
AA Change: T582A

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 95% (74/78)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,265,339 (GRCm39) probably null Het
Adamts19 A G 18: 58,970,848 (GRCm39) Q144R possibly damaging Het
Adgrb3 C A 1: 25,570,956 (GRCm39) C507F probably damaging Het
Atg9b T C 5: 24,590,237 (GRCm39) *923W probably null Het
Atp13a4 T C 16: 29,239,653 (GRCm39) probably benign Het
Baz2b G T 2: 59,788,795 (GRCm39) R697S probably damaging Het
Bicdl1 A G 5: 115,799,537 (GRCm39) I184T probably benign Het
Bpifb4 C T 2: 153,784,903 (GRCm39) L204F possibly damaging Het
Cep120 C T 18: 53,851,561 (GRCm39) R577Q probably damaging Het
Cplx4 T C 18: 66,103,048 (GRCm39) E24G possibly damaging Het
Dcxr T C 11: 120,616,923 (GRCm39) T147A probably benign Het
Dnajc10 C A 2: 80,170,870 (GRCm39) H454N probably damaging Het
Dsp G T 13: 38,351,504 (GRCm39) G108* probably null Het
Entpd6 T A 2: 150,609,014 (GRCm39) I366K probably damaging Het
Fam111a A G 19: 12,565,057 (GRCm39) K269E probably benign Het
Grid2ip T G 5: 143,361,455 (GRCm39) V222G possibly damaging Het
Hmcn2 T G 2: 31,335,326 (GRCm39) V4421G probably benign Het
Ifi207 T C 1: 173,555,253 (GRCm39) T817A probably damaging Het
Irak2 A T 6: 113,670,683 (GRCm39) E533V probably damaging Het
Katnip A G 7: 125,464,523 (GRCm39) S1297G probably damaging Het
Kbtbd6 T C 14: 79,689,596 (GRCm39) F97S probably damaging Het
Kctd14 A T 7: 97,106,883 (GRCm39) E99V probably damaging Het
Klhl10 A T 11: 100,338,557 (GRCm39) Y432F probably benign Het
Lrrc49 T C 9: 60,592,335 (GRCm39) N53S possibly damaging Het
Mief2 T A 11: 60,621,288 (GRCm39) probably benign Het
Mog A T 17: 37,334,049 (GRCm39) S15T unknown Het
Mpi T C 9: 57,452,181 (GRCm39) D365G probably damaging Het
Mpp7 A G 18: 7,379,983 (GRCm39) probably null Het
Nlrp14 A G 7: 106,780,393 (GRCm39) D5G probably benign Het
Nr1i3 C T 1: 171,044,719 (GRCm39) T218I probably damaging Het
Nup43 C T 10: 7,554,433 (GRCm39) R339* probably null Het
Nup58 T A 14: 60,457,471 (GRCm39) R577S probably benign Het
Olfr908 C T 9: 38,427,897 (GRCm39) probably benign Het
Or4l15 AAATTTGAA AAA 14: 50,198,452 (GRCm39) probably benign Het
Or52n4b T A 7: 108,144,092 (GRCm39) M120K probably damaging Het
Or5d35 T A 2: 87,855,207 (GRCm39) I47K probably damaging Het
Or6c38 A T 10: 128,929,537 (GRCm39) V102D possibly damaging Het
Or9g20 G A 2: 85,630,338 (GRCm39) S92F probably damaging Het
Orc1 T C 4: 108,436,765 (GRCm39) probably benign Het
Pax6 C A 2: 105,526,847 (GRCm39) P251Q probably benign Het
Phactr3 C T 2: 177,925,729 (GRCm39) R330W probably damaging Het
Phldb1 G A 9: 44,622,324 (GRCm39) R81W probably damaging Het
Pip5k1c C T 10: 81,151,774 (GRCm39) P656L probably benign Het
Pkn3 T G 2: 29,974,692 (GRCm39) probably null Het
Plcb2 T A 2: 118,543,615 (GRCm39) H752L probably benign Het
Plch1 G A 3: 63,660,746 (GRCm39) T291M probably damaging Het
Plekhg1 A T 10: 3,823,127 (GRCm39) M32L probably benign Het
Plekhg1 A T 10: 3,823,130 (GRCm39) T33S probably damaging Het
Plk4 A G 3: 40,759,625 (GRCm39) T174A probably damaging Het
Ppip5k2 C A 1: 97,648,792 (GRCm39) probably benign Het
Prl2a1 G A 13: 27,988,961 (GRCm39) V29M probably benign Het
R3hcc1l T C 19: 42,571,996 (GRCm39) probably benign Het
Rasa3 C T 8: 13,648,289 (GRCm39) G125D probably damaging Het
Sema3f A T 9: 107,566,919 (GRCm39) Y136* probably null Het
Slc13a5 T A 11: 72,141,672 (GRCm39) probably null Het
Slc16a1 T C 3: 104,560,880 (GRCm39) V395A possibly damaging Het
Sparcl1 C T 5: 104,236,356 (GRCm39) A466T probably benign Het
Srrm1 G A 4: 135,069,690 (GRCm39) probably benign Het
Styxl1 G A 5: 135,797,755 (GRCm39) R50* probably null Het
Tex264 T A 9: 106,550,901 (GRCm39) I99F possibly damaging Het
Tgtp2 T C 11: 48,949,811 (GRCm39) T254A probably damaging Het
Tmem245 A C 4: 56,937,989 (GRCm39) probably null Het
Tnik A T 3: 28,661,359 (GRCm39) T587S probably benign Het
Tpr T G 1: 150,288,864 (GRCm39) S648A possibly damaging Het
Ttn T C 2: 76,596,313 (GRCm39) E18454G probably damaging Het
Utp20 A C 10: 88,645,797 (GRCm39) H527Q probably benign Het
Vmn1r1 A T 1: 181,985,111 (GRCm39) S185T probably benign Het
Vps54 C T 11: 21,262,952 (GRCm39) H680Y probably damaging Het
Vwa5b2 A G 16: 20,419,553 (GRCm39) probably null Het
Wscd1 T C 11: 71,662,802 (GRCm39) probably null Het
Zbtb41 C T 1: 139,375,152 (GRCm39) P871S probably damaging Het
Zcchc4 T C 5: 52,953,549 (GRCm39) L186P possibly damaging Het
Zdhhc13 A G 7: 48,449,621 (GRCm39) Y73C probably benign Het
Zfp12 A G 5: 143,225,755 (GRCm39) E21G 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
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'- AATCCAGGATTCCCAGGGAC -3'
(R):5'- GGTATTGGCTCTCCTCTTTAAAAG -3'

Sequencing Primer
(F):5'- GACCTTTGCAGATGGAAACCCTG -3'
(R):5'- AAGTTCTGTTCTTCTGAAGACCTCAC -3'
Posted On 2015-12-29