Incidental Mutation 'R2017:Nle1'
ID 223255
Institutional Source Beutler Lab
Gene Symbol Nle1
Ensembl Gene ENSMUSG00000020692
Gene Name notchless homolog 1
Synonyms l11Jus4, Nle, l11Jus1, notchless
MMRRC Submission 040026-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2017 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 82791594-82799237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 82796373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 166 (P166Q)
Ref Sequence ENSEMBL: ENSMUSP00000099502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018988] [ENSMUST00000103213]
AlphaFold Q8VEJ4
Predicted Effect probably benign
Transcript: ENSMUST00000018988
SMART Domains Protein: ENSMUSP00000018988
Gene: ENSMUSG00000018844

DomainStartEndE-ValueType
low complexity region 159 170 N/A INTRINSIC
FN3 176 264 9.48e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103213
AA Change: P166Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099502
Gene: ENSMUSG00000020692
AA Change: P166Q

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Pfam:NLE 17 77 3.6e-15 PFAM
WD40 103 142 5.22e-12 SMART
WD40 145 184 1.48e-11 SMART
WD40 188 232 1.66e-5 SMART
WD40 235 273 3.11e-10 SMART
WD40 276 357 1.14e-3 SMART
WD40 361 400 8.81e-10 SMART
WD40 403 442 1.69e-11 SMART
WD40 445 484 9.44e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124109
Predicted Effect probably benign
Transcript: ENSMUST00000126202
SMART Domains Protein: ENSMUSP00000130605
Gene: ENSMUSG00000020692

DomainStartEndE-ValueType
SCOP:d1flga_ 12 46 2e-5 SMART
Blast:WD40 22 48 2e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170815
Predicted Effect probably benign
Transcript: ENSMUST00000167196
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display embryonic lethality before somite formation, most blastocysts fail to hatch out of the zona pellucida, and apoptosis is increased in the inner cell mass. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025C18Rik T C 2: 164,920,946 (GRCm39) D29G unknown Het
Abca13 A T 11: 9,240,619 (GRCm39) L827F probably damaging Het
Abcc1 T A 16: 14,279,068 (GRCm39) V1126E probably damaging Het
Abcc12 A G 8: 87,290,617 (GRCm39) L41S probably damaging Het
Adgrg7 T C 16: 56,553,169 (GRCm39) T643A probably benign Het
Angpt2 T C 8: 18,755,747 (GRCm39) N240S probably damaging Het
Apc A G 18: 34,446,655 (GRCm39) T1150A probably benign Het
Apob G A 12: 8,057,751 (GRCm39) D2078N possibly damaging Het
Apool T A X: 111,274,258 (GRCm39) S234T probably benign Het
Ascc3 C T 10: 50,566,307 (GRCm39) P751S probably benign Het
Astn2 G A 4: 65,459,178 (GRCm39) T1079I probably damaging Het
Atp8b1 T C 18: 64,673,405 (GRCm39) N989S probably damaging Het
B3gnt2 T C 11: 22,786,621 (GRCm39) D189G probably damaging Het
Bcas1 A C 2: 170,190,081 (GRCm39) probably null Het
Btk T C X: 133,448,350 (GRCm39) D355G probably benign Het
C2cd4c A G 10: 79,448,823 (GRCm39) V108A possibly damaging Het
Cbfa2t2 T C 2: 154,359,727 (GRCm39) L264P probably damaging Het
Cd22 A T 7: 30,572,205 (GRCm39) L423Q probably damaging Het
Cep128 T C 12: 91,333,238 (GRCm39) D9G probably damaging Het
Cer1 A T 4: 82,801,120 (GRCm39) V181D probably damaging Het
Ciita T C 16: 10,329,540 (GRCm39) L584P probably damaging Het
Cmss1 T C 16: 57,136,641 (GRCm39) D77G probably damaging Het
Col4a2 T C 8: 11,495,086 (GRCm39) F1515L probably benign Het
Cyria T A 12: 12,412,362 (GRCm39) V208D probably damaging Het
Dcaf1 A G 9: 106,725,122 (GRCm39) E536G probably damaging Het
Dcaf1 T A 9: 106,716,287 (GRCm39) D360E probably benign Het
Dnah2 T A 11: 69,327,896 (GRCm39) I3370F probably damaging Het
Dsg1c T C 18: 20,399,253 (GRCm39) V119A possibly damaging Het
Edn3 A G 2: 174,620,455 (GRCm39) E103G probably benign Het
Efemp1 G T 11: 28,871,613 (GRCm39) R376L probably damaging Het
Eid1 A G 2: 125,515,121 (GRCm39) M4V probably benign Het
Emilin3 G A 2: 160,751,530 (GRCm39) R170C possibly damaging Het
Epx T C 11: 87,765,163 (GRCm39) D178G probably damaging Het
Fkbp10 G A 11: 100,312,499 (GRCm39) V252I possibly damaging Het
Flnc G A 6: 29,443,796 (GRCm39) probably null Het
Fsip2 A G 2: 82,813,076 (GRCm39) K3132E possibly damaging Het
Gla C T X: 133,497,071 (GRCm39) A39T probably damaging Het
Hivep2 C T 10: 14,006,501 (GRCm39) T1033M probably damaging Het
Hsd17b8 A T 17: 34,245,187 (GRCm39) M259K probably damaging Het
Ift70a1 A G 2: 75,811,801 (GRCm39) L94P probably benign Het
Ikzf4 C T 10: 128,470,026 (GRCm39) G498D probably damaging Het
Impg1 T C 9: 80,322,720 (GRCm39) Y95C probably damaging Het
Ino80c T A 18: 24,244,810 (GRCm39) K136* probably null Het
Iqsec1 A C 6: 90,666,912 (GRCm39) H508Q probably benign Het
Itgb3 A G 11: 104,528,788 (GRCm39) H305R possibly damaging Het
Jup T A 11: 100,277,167 (GRCm39) T14S probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klf12 T C 14: 100,260,073 (GRCm39) R219G possibly damaging Het
Klhl42 G T 6: 147,009,291 (GRCm39) V377L probably benign Het
Large1 A G 8: 73,578,825 (GRCm39) F460S probably damaging Het
Loxl3 A T 6: 83,025,958 (GRCm39) D402V probably damaging Het
Lrrc37a T A 11: 103,391,951 (GRCm39) Y1158F probably benign Het
Map2 T A 1: 66,451,958 (GRCm39) S365T probably damaging Het
Mapk8ip1 A G 2: 92,221,379 (GRCm39) probably null Het
Med26 A G 8: 73,250,791 (GRCm39) S103P probably damaging Het
Muc4 T C 16: 32,570,121 (GRCm39) S394P possibly damaging Het
Obox5 T C 7: 15,492,807 (GRCm39) I254T probably benign Het
Or1p1c T A 11: 74,161,159 (GRCm39) W315R probably benign Het
Or4g7 G T 2: 111,309,532 (GRCm39) M134I probably benign Het
Or52j3 T C 7: 102,836,137 (GRCm39) F110L probably benign Het
Or7c19 T C 8: 85,957,373 (GRCm39) L83P possibly damaging Het
Pacs2 A T 12: 113,026,077 (GRCm39) N545Y probably damaging Het
Palld T C 8: 62,137,799 (GRCm39) E652G probably damaging Het
Pgm5 T C 19: 24,801,676 (GRCm39) N184S probably benign Het
Pitpnm1 T C 19: 4,161,873 (GRCm39) V955A probably benign Het
Plcb1 T A 2: 135,204,340 (GRCm39) I898N possibly damaging Het
Pramel13 A G 4: 144,121,244 (GRCm39) V260A possibly damaging Het
Prr36 T A 8: 4,265,205 (GRCm39) T182S probably benign Het
Prss35 A G 9: 86,637,565 (GRCm39) S112G probably benign Het
Ptprj C T 2: 90,294,958 (GRCm39) V417M probably damaging Het
Ptprm G T 17: 67,264,148 (GRCm39) probably null Het
Rasgrp2 T C 19: 6,463,195 (GRCm39) V498A probably benign Het
Rfx6 A G 10: 51,597,700 (GRCm39) N513S possibly damaging Het
Rhbdf1 A G 11: 32,160,471 (GRCm39) I693T probably damaging Het
Scn9a T C 2: 66,345,665 (GRCm39) T1143A probably damaging Het
Spata17 A G 1: 186,780,650 (GRCm39) S366P possibly damaging Het
Svep1 A G 4: 58,070,568 (GRCm39) L2406P probably benign Het
Tasor2 A T 13: 3,626,770 (GRCm39) I1060K probably benign Het
Tgfb2 A T 1: 186,362,962 (GRCm39) Y287* probably null Het
Trip11 A T 12: 101,851,619 (GRCm39) V815E probably benign Het
Trp53bp2 G T 1: 182,276,580 (GRCm39) V854L probably benign Het
Vmn1r78 T C 7: 11,887,270 (GRCm39) S294P possibly damaging Het
Vmn2r86 T C 10: 130,282,582 (GRCm39) K678R probably benign Het
Yeats2 T A 16: 19,977,931 (GRCm39) N138K probably benign Het
Zup1 A T 10: 33,803,460 (GRCm39) N541K possibly damaging Het
Other mutations in Nle1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02226:Nle1 APN 11 82,795,133 (GRCm39) nonsense probably null
IGL02945:Nle1 APN 11 82,794,910 (GRCm39) splice site probably benign
IGL03170:Nle1 APN 11 82,795,096 (GRCm39) missense probably benign
R0401:Nle1 UTSW 11 82,796,205 (GRCm39) unclassified probably benign
R0646:Nle1 UTSW 11 82,795,671 (GRCm39) missense probably damaging 1.00
R1958:Nle1 UTSW 11 82,795,068 (GRCm39) missense probably benign 0.01
R1966:Nle1 UTSW 11 82,792,614 (GRCm39) missense probably damaging 1.00
R2016:Nle1 UTSW 11 82,796,373 (GRCm39) missense probably damaging 1.00
R2049:Nle1 UTSW 11 82,796,192 (GRCm39) missense probably damaging 1.00
R2140:Nle1 UTSW 11 82,796,394 (GRCm39) missense probably damaging 0.99
R2289:Nle1 UTSW 11 82,793,879 (GRCm39) missense probably benign 0.01
R4354:Nle1 UTSW 11 82,797,257 (GRCm39) missense possibly damaging 0.65
R4963:Nle1 UTSW 11 82,795,763 (GRCm39) missense probably benign 0.04
R4964:Nle1 UTSW 11 82,799,018 (GRCm39) missense probably damaging 1.00
R5257:Nle1 UTSW 11 82,795,772 (GRCm39) missense probably damaging 1.00
R5258:Nle1 UTSW 11 82,795,772 (GRCm39) missense probably damaging 1.00
R5509:Nle1 UTSW 11 82,794,008 (GRCm39) missense possibly damaging 0.92
R6160:Nle1 UTSW 11 82,798,983 (GRCm39) missense probably benign 0.01
R7206:Nle1 UTSW 11 82,795,757 (GRCm39) missense probably benign 0.35
R7696:Nle1 UTSW 11 82,795,792 (GRCm39) nonsense probably null
R8765:Nle1 UTSW 11 82,793,882 (GRCm39) missense probably damaging 1.00
R9020:Nle1 UTSW 11 82,797,275 (GRCm39) missense probably benign 0.01
R9800:Nle1 UTSW 11 82,793,876 (GRCm39) missense probably benign
Z1176:Nle1 UTSW 11 82,795,138 (GRCm39) missense probably damaging 1.00
Z1177:Nle1 UTSW 11 82,792,669 (GRCm39) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- GTGATCCATTTGCTGTGGCC -3'
(R):5'- ACTAGGGAGTGGCAGTGTTATC -3'

Sequencing Primer
(F):5'- TTGGGTCCCACAGCAGAAC -3'
(R):5'- CAGTGTTATCTGCAGAAAGCTG -3'
Posted On 2014-08-25