Incidental Mutation 'R7401:Neurod4'
ID 574180
Institutional Source Beutler Lab
Gene Symbol Neurod4
Ensembl Gene ENSMUSG00000048015
Gene Name neurogenic differentiation 4
Synonyms Atoh3, Math3, bHLHa4, MATH-3
MMRRC Submission 045483-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.592) question?
Stock # R7401 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 130104021-130116109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130106927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 116 (C116R)
Ref Sequence ENSEMBL: ENSMUSP00000051379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061571]
AlphaFold O09105
Predicted Effect probably damaging
Transcript: ENSMUST00000061571
AA Change: C116R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051379
Gene: ENSMUSG00000048015
AA Change: C116R

low complexity region 49 76 N/A INTRINSIC
HLH 93 145 2.21e-16 SMART
Pfam:Neuro_bHLH 146 263 1.3e-41 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene belongs to the neurogenic differentiation factor family and encodes a basic helix-loop-helix (bHLH) transcription factor which is expressed in the developing nervous system with high levels of expression in the brain, retina and cranial ganglions. Expression gradually becomes restricted to the neural retina. It is a key gene in the Ngn2-regulated neuronal differentiation pathway, coordinating the onset of cortical gene transcription. This gene also regulates amacrine cell fate determination in the retina. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced growth, ataxia, and high postnatal mortality. Mutants show impaired postnatal cerebellar development, with thinner inner granular cell and molecular layers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A T 16: 16,936,268 (GRCm39) L152Q probably benign Het
Abcg3 A T 5: 105,114,640 (GRCm39) N292K probably damaging Het
Adamts3 T A 5: 89,855,309 (GRCm39) probably null Het
Adgrg7 T C 16: 56,562,781 (GRCm39) N519D probably benign Het
Adsl A G 15: 80,846,983 (GRCm39) H263R probably damaging Het
Ak9 A T 10: 41,299,000 (GRCm39) D1567V unknown Het
Bscl2 T C 19: 8,823,914 (GRCm39) F280L possibly damaging Het
Cacna1b T A 2: 24,569,306 (GRCm39) T873S probably benign Het
Cacna1c T C 6: 119,029,669 (GRCm39) probably null Het
Cast G T 13: 74,956,577 (GRCm39) A18E unknown Het
Cd207 A C 6: 83,654,830 (GRCm39) probably benign Het
Cd79b A G 11: 106,203,678 (GRCm39) S130P probably benign Het
Cfap52 A T 11: 67,840,459 (GRCm39) N157K probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Chaf1b G T 16: 93,681,268 (GRCm39) probably benign Het
Cntn1 A G 15: 92,215,870 (GRCm39) I968V probably benign Het
Cntn5 C T 9: 9,833,466 (GRCm39) V362I probably benign Het
Crem A G 18: 3,295,329 (GRCm39) S80P probably damaging Het
Csnk1g3 C T 18: 54,063,390 (GRCm39) T267I probably damaging Het
Cyth1 A T 11: 118,073,077 (GRCm39) N274K possibly damaging Het
Dicer1 C T 12: 104,678,537 (GRCm39) G594S probably benign Het
Enpp1 C T 10: 24,521,180 (GRCm39) C849Y probably damaging Het
Fam193a A G 5: 34,622,979 (GRCm39) E1189G possibly damaging Het
Fermt1 C A 2: 132,759,479 (GRCm39) V426L probably benign Het
Fes A G 7: 80,028,524 (GRCm39) probably null Het
Gmeb1 C A 4: 131,953,085 (GRCm39) L560F probably damaging Het
Hace1 T C 10: 45,546,722 (GRCm39) L452P probably damaging Het
Hecw2 T A 1: 53,943,502 (GRCm39) H975L probably damaging Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Il1r2 T A 1: 40,162,370 (GRCm39) C338S probably damaging Het
Iqcn T C 8: 71,169,921 (GRCm39) I1337T probably benign Het
Kcnb1 T C 2: 167,030,204 (GRCm39) S114G probably damaging Het
Lce1c A T 3: 92,587,623 (GRCm39) T17S unknown Het
Lhfpl4 C A 6: 113,153,627 (GRCm39) L141F possibly damaging Het
Ms4a14 T C 19: 11,279,594 (GRCm39) E988G possibly damaging Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Neurod1 T A 2: 79,285,290 (GRCm39) D31V probably benign Het
Nisch A G 14: 30,928,537 (GRCm39) V28A probably benign Het
Odad1 A C 7: 45,592,189 (GRCm39) Q323P probably damaging Het
Or4a72 A G 2: 89,405,449 (GRCm39) V207A probably benign Het
Or5d44 T G 2: 88,141,772 (GRCm39) M123L probably benign Het
Pabpc4l T A 3: 46,401,024 (GRCm39) R207W probably damaging Het
Pabpc4l A T 3: 46,400,687 (GRCm39) I319N probably damaging Het
Pcm1 G A 8: 41,762,568 (GRCm39) D1371N probably damaging Het
Peg10 G GGTC 6: 4,756,452 (GRCm39) probably benign Het
Plxnc1 C T 10: 94,706,867 (GRCm39) A557T probably benign Het
Prkdc T A 16: 15,466,602 (GRCm39) V58D probably damaging Het
Prpf40a A G 2: 53,046,959 (GRCm39) V259A probably benign Het
Psmd3 A T 11: 98,576,466 (GRCm39) T123S probably benign Het
Ptgr2 G T 12: 84,339,103 (GRCm39) probably benign Het
Ptprr A G 10: 115,884,141 (GRCm39) H66R probably benign Het
Rftn2 A G 1: 55,233,401 (GRCm39) probably null Het
Rsph14 T A 10: 74,865,628 (GRCm39) E70V possibly damaging Het
Slc24a5 G A 2: 124,930,111 (GRCm39) V471I probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spag9 A T 11: 93,988,515 (GRCm39) T862S probably benign Het
Ssbp2 T A 13: 91,839,002 (GRCm39) D291E probably benign Het
Supt5 T C 7: 28,023,197 (GRCm39) K329E probably damaging Het
Syne2 G T 12: 76,014,155 (GRCm39) K3115N probably damaging Het
Tars1 A T 15: 11,392,095 (GRCm39) L239* probably null Het
Tbxa2r T C 10: 81,168,625 (GRCm39) Y105H probably benign Het
Tesk1 T A 4: 43,445,743 (GRCm39) D265E probably damaging Het
Tril T C 6: 53,795,266 (GRCm39) D652G possibly damaging Het
Tsga10 T C 1: 37,873,268 (GRCm39) R204G probably null Het
Twnk A G 19: 45,000,219 (GRCm39) D645G probably benign Het
Umodl1 A T 17: 31,217,122 (GRCm39) D1118V probably damaging Het
Unc119 T C 11: 78,238,071 (GRCm39) I83T probably benign Het
Unc80 T C 1: 66,685,574 (GRCm39) W2233R possibly damaging Het
Vmn1r45 T A 6: 89,910,416 (GRCm39) T185S possibly damaging Het
Vmn2r111 G T 17: 22,790,067 (GRCm39) T313K possibly damaging Het
Wdr4 A G 17: 31,728,806 (GRCm39) L123S probably damaging Het
Zfpm2 A G 15: 40,966,386 (GRCm39) E957G possibly damaging Het
Other mutations in Neurod4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Neurod4 APN 10 130,106,683 (GRCm39) missense probably damaging 0.96
IGL01674:Neurod4 APN 10 130,106,887 (GRCm39) missense probably damaging 1.00
R0347:Neurod4 UTSW 10 130,106,980 (GRCm39) missense probably damaging 1.00
R1436:Neurod4 UTSW 10 130,106,540 (GRCm39) missense possibly damaging 0.87
R1467:Neurod4 UTSW 10 130,106,473 (GRCm39) missense probably benign 0.03
R1467:Neurod4 UTSW 10 130,106,473 (GRCm39) missense probably benign 0.03
R1965:Neurod4 UTSW 10 130,106,918 (GRCm39) nonsense probably null
R3018:Neurod4 UTSW 10 130,106,824 (GRCm39) missense probably damaging 1.00
R3847:Neurod4 UTSW 10 130,106,351 (GRCm39) missense probably benign
R5491:Neurod4 UTSW 10 130,106,936 (GRCm39) missense possibly damaging 0.95
R5655:Neurod4 UTSW 10 130,107,002 (GRCm39) nonsense probably null
R5705:Neurod4 UTSW 10 130,107,271 (GRCm39) start codon destroyed probably null 0.99
R6143:Neurod4 UTSW 10 130,106,869 (GRCm39) missense probably damaging 1.00
R6800:Neurod4 UTSW 10 130,106,661 (GRCm39) nonsense probably null
R6867:Neurod4 UTSW 10 130,106,583 (GRCm39) missense probably damaging 1.00
R7396:Neurod4 UTSW 10 130,106,891 (GRCm39) missense probably damaging 1.00
R7961:Neurod4 UTSW 10 130,106,356 (GRCm39) missense possibly damaging 0.59
R8782:Neurod4 UTSW 10 130,106,948 (GRCm39) missense probably damaging 1.00
R9130:Neurod4 UTSW 10 130,106,427 (GRCm39) nonsense probably null
R9184:Neurod4 UTSW 10 130,106,958 (GRCm39) missense probably damaging 1.00
R9364:Neurod4 UTSW 10 130,106,840 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-09-13