Incidental Mutation 'R2408:Nbl1'
ID 248090
Institutional Source Beutler Lab
Gene Symbol Nbl1
Ensembl Gene ENSMUSG00000041120
Gene Name NBL1, DAN family BMP antagonist
Synonyms DAN, Dana, D4H1S1733E, NO3
MMRRC Submission 040374-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # R2408 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 138809595-138820304 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 138810843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 117 (C117Y)
Ref Sequence ENSEMBL: ENSMUSP00000045608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042844]
AlphaFold Q61477
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: 95,730,121 (GRCm39) L103V probably null Het
BC051076 C T 5: 88,111,684 (GRCm39) noncoding transcript Het
Ccdc191 A T 16: 43,751,561 (GRCm39) Q239L probably benign Het
Dennd4b G T 3: 90,178,882 (GRCm39) G538* probably null Het
Dipk1a T C 5: 108,062,291 (GRCm39) D78G possibly damaging Het
Dusp7 C T 9: 106,246,361 (GRCm39) A122V probably benign Het
Exd2 T G 12: 80,531,015 (GRCm39) probably benign Het
Gm10782 C A 13: 56,510,944 (GRCm39) noncoding transcript Het
Gm5117 T C 8: 32,227,306 (GRCm39) noncoding transcript Het
Hhipl1 T A 12: 108,284,806 (GRCm39) D386E probably benign Het
Hnf1a C T 5: 115,098,070 (GRCm39) probably null Het
Ifi204 A G 1: 173,583,198 (GRCm39) F340S possibly damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Med26 T C 8: 73,249,476 (GRCm39) D541G probably benign Het
Mgam T A 6: 40,663,456 (GRCm39) L1218Q probably damaging Het
Msh5 T C 17: 35,264,095 (GRCm39) D136G probably damaging Het
Niban2 A G 2: 32,813,482 (GRCm39) Y565C probably damaging Het
Noct T C 3: 51,132,710 (GRCm39) probably null Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Prmt2 A T 10: 76,044,301 (GRCm39) M417K probably damaging Het
Rptor A G 11: 119,748,277 (GRCm39) E3G probably damaging Het
Sgms1 G A 19: 32,137,072 (GRCm39) R165* probably null Het
Slc13a5 A G 11: 72,152,902 (GRCm39) S60P probably damaging Het
Sycp1 T C 3: 102,832,575 (GRCm39) Y197C probably damaging Het
Tmem222 T C 4: 132,998,335 (GRCm39) H73R possibly damaging Het
Trmt1l G A 1: 151,315,267 (GRCm39) G151D possibly damaging Het
Ttc16 A G 2: 32,658,020 (GRCm39) F409L probably benign Het
Ubap2l T C 3: 89,916,439 (GRCm39) Q925R probably null Het
Ucn3 T G 13: 3,991,413 (GRCm39) I80L probably benign Het
Vwa3a T C 7: 120,372,517 (GRCm39) S302P probably benign Het
Zfp804b A T 5: 7,229,410 (GRCm39) probably benign Het
Zmynd19 A G 2: 24,848,937 (GRCm39) E144G possibly damaging Het
Other mutations in Nbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01748:Nbl1 APN 4 138,810,921 (GRCm39) splice site probably benign
R1303:Nbl1 UTSW 4 138,812,778 (GRCm39) missense probably benign 0.26
R2109:Nbl1 UTSW 4 138,810,915 (GRCm39) critical splice acceptor site probably null
R8199:Nbl1 UTSW 4 138,810,880 (GRCm39) missense probably damaging 1.00
R8261:Nbl1 UTSW 4 138,812,832 (GRCm39) missense probably damaging 0.99
R8903:Nbl1 UTSW 4 138,810,861 (GRCm39) missense probably damaging 0.99
R9605:Nbl1 UTSW 4 138,812,608 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- AAGTCCATCCAGTGCCAAAG -3'
(R):5'- AGATGGGTTCACAGAGCACAC -3'

Sequencing Primer
(F):5'- TGGGACCGACATTCCACAG -3'
(R):5'- TTCACAGAGCACACTGGGCTG -3'
Posted On 2014-11-11