Incidental Mutation 'R2408:Nbl1'
ID248090
Institutional Source Beutler Lab
Gene Symbol Nbl1
Ensembl Gene ENSMUSG00000041120
Gene Nameneuroblastoma, suppression of tumorigenicity 1
SynonymsDAN, Dana, NO3, D4H1S1733E
MMRRC Submission 040374-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.233) question?
Stock #R2408 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location139082284-139092993 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 139083532 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 117 (C117Y)
Ref Sequence ENSEMBL: ENSMUSP00000045608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042844]
Predicted Effect probably damaging
Transcript: ENSMUST00000042844
AA Change: C117Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045608
Gene: ENSMUSG00000041120
AA Change: C117Y

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
CT 36 123 3.84e-3 SMART
low complexity region 140 177 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132940
Meta Mutation Damage Score 0.5980 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 97% (33/34)
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene appear to have a normal nervous system, although one allele exhibits reduced sensitivity to pain during inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg1 T G 8: 95,003,493 L103V probably null Het
BC051076 C T 5: 87,963,825 noncoding transcript Het
Ccdc191 A T 16: 43,931,198 Q239L probably benign Het
Dennd4b G T 3: 90,271,575 G538* probably null Het
Dusp7 C T 9: 106,369,162 A122V probably benign Het
Exd2 T G 12: 80,484,241 probably benign Het
Fam129b A G 2: 32,923,470 Y565C probably damaging Het
Fam69a T C 5: 107,914,425 D78G possibly damaging Het
Gm10782 C A 13: 56,363,131 noncoding transcript Het
Gm5117 T C 8: 31,737,278 noncoding transcript Het
Hhipl1 T A 12: 108,318,547 D386E probably benign Het
Hnf1a C T 5: 114,960,011 probably null Het
Ifi204 A G 1: 173,755,632 F340S possibly damaging Het
Kalrn C T 16: 33,989,810 D2525N possibly damaging Het
Med26 T C 8: 72,495,632 D541G probably benign Het
Mgam T A 6: 40,686,522 L1218Q probably damaging Het
Msh5 T C 17: 35,045,119 D136G probably damaging Het
Noct T C 3: 51,225,289 probably null Het
Nsf C T 11: 103,930,752 E26K possibly damaging Het
Prmt2 A T 10: 76,208,467 M417K probably damaging Het
Rptor A G 11: 119,857,451 E3G probably damaging Het
Sgms1 G A 19: 32,159,672 R165* probably null Het
Slc13a5 A G 11: 72,262,076 S60P probably damaging Het
Sycp1 T C 3: 102,925,259 Y197C probably damaging Het
Tmem222 T C 4: 133,271,024 H73R possibly damaging Het
Trmt1l G A 1: 151,439,516 G151D possibly damaging Het
Ttc16 A G 2: 32,768,008 F409L probably benign Het
Ubap2l T C 3: 90,009,132 Q925R probably null Het
Ucn3 T G 13: 3,941,413 I80L probably benign Het
Vwa3a T C 7: 120,773,294 S302P probably benign Het
Zfp804b A T 5: 7,179,410 probably benign Het
Zmynd19 A G 2: 24,958,925 E144G possibly damaging Het
Other mutations in Nbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01748:Nbl1 APN 4 139083610 splice site probably benign
R1303:Nbl1 UTSW 4 139085467 missense probably benign 0.26
R2109:Nbl1 UTSW 4 139083604 critical splice acceptor site probably null
R8199:Nbl1 UTSW 4 139083569 missense probably damaging 1.00
R8261:Nbl1 UTSW 4 139085521 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AAGTCCATCCAGTGCCAAAG -3'
(R):5'- AGATGGGTTCACAGAGCACAC -3'

Sequencing Primer
(F):5'- TGGGACCGACATTCCACAG -3'
(R):5'- TTCACAGAGCACACTGGGCTG -3'
Posted On2014-11-11