Incidental Mutation 'R5940:Nes'
ID 462470
Institutional Source Beutler Lab
Gene Symbol Nes
Ensembl Gene ENSMUSG00000004891
Gene Name nestin
Synonyms Marc2, RC2, ESTM46, Ifaprc2
MMRRC Submission 044132-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.547) question?
Stock # R5940 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 87878400-87887758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 87883259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 506 (V506G)
Ref Sequence ENSEMBL: ENSMUSP00000125571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090973] [ENSMUST00000160694]
AlphaFold Q6P5H2
Predicted Effect probably damaging
Transcript: ENSMUST00000090973
AA Change: V506G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088493
Gene: ENSMUSG00000004891
AA Change: V506G

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: V506G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125571
Gene: ENSMUSG00000004891
AA Change: V506G

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 96% (88/92)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,645 (GRCm39) Y440C possibly damaging Het
Aasdh G T 5: 77,030,745 (GRCm39) S618R probably benign Het
Alpk1 T G 3: 127,464,595 (GRCm39) T1228P probably benign Het
Ank3 T C 10: 69,756,316 (GRCm39) V850A probably benign Het
Apeh A T 9: 107,969,098 (GRCm39) probably null Het
Ash1l C T 3: 88,891,343 (GRCm39) T1074I probably damaging Het
C3 G A 17: 57,517,244 (GRCm39) S1297F possibly damaging Het
Cchcr1 G A 17: 35,835,890 (GRCm39) R284Q probably damaging Het
Cd93 A T 2: 148,284,152 (GRCm39) I398N probably benign Het
Cdcp3 A T 7: 130,839,992 (GRCm39) D638V probably damaging Het
Chrd G T 16: 20,553,336 (GRCm39) R226L probably null Het
Clvs1 A T 4: 9,449,443 (GRCm39) N344I possibly damaging Het
Cyp4v3 A T 8: 45,774,821 (GRCm39) I111N probably damaging Het
Cysltr2 T A 14: 73,267,389 (GRCm39) Y107F probably damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Czib A G 4: 107,750,485 (GRCm39) probably benign Het
Defb47 A T 14: 63,238,359 (GRCm39) E28D probably benign Het
Dnajc30 T A 5: 135,093,413 (GRCm39) Y103* probably null Het
Drap1 T C 19: 5,473,028 (GRCm39) T160A probably benign Het
Dsp A G 13: 38,380,002 (GRCm39) E2249G possibly damaging Het
E2f8 T A 7: 48,520,825 (GRCm39) I499F probably benign Het
Ebf1 T A 11: 44,512,048 (GRCm39) Y116N probably damaging Het
Ecrg4 C T 1: 43,776,401 (GRCm39) R41* probably null Het
Ect2 C A 3: 27,169,614 (GRCm39) E746D probably benign Het
Enpep T A 3: 129,106,227 (GRCm39) Y333F probably damaging Het
Fat4 T C 3: 38,943,798 (GRCm39) V897A probably benign Het
Gja3 T A 14: 57,273,317 (GRCm39) S352C probably damaging Het
Gpr153 C A 4: 152,367,832 (GRCm39) P561Q probably benign Het
Hlcs T C 16: 93,935,571 (GRCm39) M574V probably damaging Het
Hmcn1 A G 1: 150,532,973 (GRCm39) V3070A probably benign Het
Hsd3b2 G T 3: 98,619,287 (GRCm39) N219K probably benign Het
Htra3 T C 5: 35,810,324 (GRCm39) I453V possibly damaging Het
Klrc1 A T 6: 129,651,898 (GRCm39) M220K possibly damaging Het
Kntc1 T G 5: 123,924,258 (GRCm39) I1048S probably benign Het
Lrrc37 T C 11: 103,504,712 (GRCm39) S243G probably benign Het
Macf1 T A 4: 123,326,674 (GRCm39) D2822V probably damaging Het
Mcu T A 10: 59,292,554 (GRCm39) I42F possibly damaging Het
Mkln1 T A 6: 31,466,307 (GRCm39) D521E probably damaging Het
Ms4a13 T C 19: 11,170,330 (GRCm39) N5D possibly damaging Het
Msh3 T G 13: 92,386,351 (GRCm39) N838T probably damaging Het
Msl2 T A 9: 100,978,290 (GRCm39) C221* probably null Het
Ncapd2 A G 6: 125,145,832 (GRCm39) S1310P probably benign Het
Ncoa6 A T 2: 155,257,785 (GRCm39) M586K probably damaging Het
Ndel1 C T 11: 68,713,397 (GRCm39) probably benign Het
Ndst4 T C 3: 125,355,068 (GRCm39) probably benign Het
Nrg1 T C 8: 32,339,372 (GRCm39) K200E probably damaging Het
Nt5c1b A G 12: 10,425,515 (GRCm39) K295E probably damaging Het
Or4f54 G A 2: 111,122,729 (GRCm39) V39M possibly damaging Het
Or5b123 T A 19: 13,596,517 (GRCm39) probably null Het
Or6s1 T A 14: 51,308,179 (GRCm39) I224L probably damaging Het
Or8b4 C T 9: 37,830,733 (GRCm39) T260I probably damaging Het
Or8g51 G T 9: 38,609,007 (GRCm39) Y218* probably null Het
Or8k38 A T 2: 86,488,394 (GRCm39) M136K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pde1a A G 2: 79,718,183 (GRCm39) probably null Het
Pds5a A G 5: 65,801,328 (GRCm39) probably benign Het
Plbd1 A T 6: 136,590,719 (GRCm39) probably benign Het
Plod2 T A 9: 92,473,450 (GRCm39) V292E probably benign Het
Polg A G 7: 79,103,819 (GRCm39) V879A possibly damaging Het
Ppargc1a C T 5: 51,631,253 (GRCm39) A459T probably damaging Het
Prorp T A 12: 55,351,659 (GRCm39) W323R probably damaging Het
Psip1 T C 4: 83,394,559 (GRCm39) E83G probably damaging Het
Rhbdf1 T C 11: 32,159,847 (GRCm39) D843G probably benign Het
Rnpepl1 G T 1: 92,845,434 (GRCm39) C451F probably damaging Het
Rrp1 T C 10: 78,241,249 (GRCm39) D206G probably damaging Het
Setbp1 A T 18: 78,798,703 (GRCm39) D1492E probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc16a6 C T 11: 109,364,022 (GRCm39) probably benign Homo
Slc7a6os A G 8: 106,937,437 (GRCm39) S37P probably damaging Het
Tenm4 T A 7: 96,495,102 (GRCm39) S1140T probably damaging Het
Thoc6 C A 17: 23,889,315 (GRCm39) R115L probably benign Het
Tmem63c C T 12: 87,121,946 (GRCm39) H385Y probably benign Het
Trpm8 G T 1: 88,279,137 (GRCm39) E649* probably null Het
Usf1 A G 1: 171,245,347 (GRCm39) E253G possibly damaging Het
Vps13d T C 4: 144,801,545 (GRCm39) T443A probably benign Het
Wdr86 T C 5: 24,927,660 (GRCm39) Y93C probably damaging Het
Zfp597 A T 16: 3,683,685 (GRCm39) I357N probably damaging Het
Zfp709 A G 8: 72,644,064 (GRCm39) I497V possibly damaging Het
Zxdc T C 6: 90,347,307 (GRCm39) S223P 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
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
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'- CACAGTGCCCAGTTCTACTG -3'
(R):5'- TGAATTGCAATTCTCCTTTCCTGGG -3'

Sequencing Primer
(F):5'- TACTGGTGTCCTCCCAGAG -3'
(R):5'- CCTTTCCTGGGGTCTCATGG -3'
Posted On 2017-02-28