Incidental Mutation 'R2317:Nodal'
ID 245531
Institutional Source Beutler Lab
Gene Symbol Nodal
Ensembl Gene ENSMUSG00000037171
Gene Name nodal
Synonyms Tg.413d
MMRRC Submission 040312-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2317 (G1)
Quality Score 193
Status Not validated
Chromosome 10
Chromosomal Location 61253751-61261117 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61254212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 45 (M45T)
Ref Sequence ENSEMBL: ENSMUSP00000039653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049339]
AlphaFold P43021
Predicted Effect possibly damaging
Transcript: ENSMUST00000049339
AA Change: M45T

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039653
Gene: ENSMUSG00000037171
AA Change: M45T

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 235 244 N/A INTRINSIC
TGFB 254 354 2.6e-58 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which regulates early embryonic development. Homozygous knockout mice for this gene exhibit early embryonic lethality, while expression of a hypomorphic allele results in defects in anteroposterior and left-right patterning. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mutants fail to form a primitive streak, show placental defects and die at gastrulation. Hypomorphic mutants are defective in anterior-posterior, anterior-midline, and left-right body patterning, resulting in multiple organ defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc102a T C 8: 95,634,957 (GRCm39) D327G probably null Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Cfap126 A G 1: 170,953,700 (GRCm39) D134G possibly damaging Het
Cript T C 17: 87,335,139 (GRCm39) L19P probably benign Het
Cwf19l1 A C 19: 44,120,597 (GRCm39) L39V possibly damaging Het
Eif2b4 T C 5: 31,348,920 (GRCm39) probably null Het
Esp16 A G 17: 39,850,738 (GRCm39) N39S probably benign Het
Fbxo30 A G 10: 11,166,078 (GRCm39) N267D probably damaging Het
Gabra6 T C 11: 42,208,607 (GRCm39) probably null Het
Gp1ba A G 11: 70,531,473 (GRCm39) probably benign Het
Klf12 C T 14: 100,179,503 (GRCm39) R279Q probably benign Het
Lats1 C T 10: 7,567,540 (GRCm39) Q104* probably null Het
Myrfl A G 10: 116,675,289 (GRCm39) Y215H possibly damaging Het
Ncoa1 A G 12: 4,325,189 (GRCm39) I963T probably damaging Het
Neurod6 A G 6: 55,655,906 (GRCm39) Y244H probably damaging Het
Nuggc A G 14: 65,861,591 (GRCm39) E479G possibly damaging Het
Pdcd6ip T C 9: 113,501,842 (GRCm39) D467G probably benign Het
Pnmt C A 11: 98,277,677 (GRCm39) Q74K probably benign Het
Slc25a36 G A 9: 96,961,235 (GRCm39) T267I probably damaging Het
Slc35e3 A G 10: 117,580,804 (GRCm39) S167P probably damaging Het
Sprr2f C A 3: 92,273,390 (GRCm39) P63H unknown Het
Stt3a T C 9: 36,659,371 (GRCm39) I323V probably benign Het
Tedc2 A G 17: 24,435,358 (GRCm39) S344P probably benign Het
Unc13b A G 4: 43,245,514 (GRCm39) D3722G probably damaging Het
Zfp35 T C 18: 24,136,555 (GRCm39) Y300H probably damaging Het
Zfp959 A G 17: 56,204,326 (GRCm39) D121G possibly damaging Het
Other mutations in Nodal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01589:Nodal APN 10 61,254,176 (GRCm39) missense probably benign 0.00
IGL02153:Nodal APN 10 61,260,324 (GRCm39) missense probably damaging 1.00
R1540:Nodal UTSW 10 61,258,764 (GRCm39) missense probably damaging 0.96
R1993:Nodal UTSW 10 61,254,113 (GRCm39) missense probably benign 0.05
R2086:Nodal UTSW 10 61,259,077 (GRCm39) missense possibly damaging 0.76
R3110:Nodal UTSW 10 61,260,276 (GRCm39) missense possibly damaging 0.75
R3112:Nodal UTSW 10 61,260,276 (GRCm39) missense possibly damaging 0.75
R3973:Nodal UTSW 10 61,258,833 (GRCm39) missense probably benign
R5785:Nodal UTSW 10 61,259,456 (GRCm39) missense probably damaging 1.00
R5967:Nodal UTSW 10 61,259,446 (GRCm39) missense probably damaging 0.99
R6166:Nodal UTSW 10 61,260,337 (GRCm39) missense probably damaging 1.00
R6212:Nodal UTSW 10 61,259,300 (GRCm39) missense possibly damaging 0.82
R6238:Nodal UTSW 10 61,259,258 (GRCm39) missense probably damaging 0.96
R9145:Nodal UTSW 10 61,259,459 (GRCm39) missense probably damaging 1.00
R9402:Nodal UTSW 10 61,259,379 (GRCm39) missense probably damaging 0.99
X0026:Nodal UTSW 10 61,260,339 (GRCm39) missense probably damaging 1.00
Z1177:Nodal UTSW 10 61,254,154 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- ATAGGTTATAGGCCTCTCCGGAG -3'
(R):5'- GGAGAAACAATTAATCCCAGTCTCTG -3'

Sequencing Primer
(F):5'- CTCAGATATAAGGGACCCTGGTG -3'
(R):5'- GGACGATTCTTGATGCTCAGTCC -3'
Posted On 2014-10-30