Incidental Mutation 'R0942:Dner'
ID 82736
Institutional Source Beutler Lab
Gene Symbol Dner
Ensembl Gene ENSMUSG00000036766
Gene Name delta/notch-like EGF repeat containing
Synonyms BET, A930026D19Rik
MMRRC Submission 039081-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0942 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 84347560-84673942 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 84563030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049126] [ENSMUST00000185606] [ENSMUST00000191546]
AlphaFold Q8JZM4
Predicted Effect probably benign
Transcript: ENSMUST00000049126
SMART Domains Protein: ENSMUSP00000042927
Gene: ENSMUSG00000036766

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
EGF 47 92 9.85e-5 SMART
EGF 97 133 2.33e-6 SMART
EGF 306 348 1.8e1 SMART
EGF 352 390 5e-6 SMART
EGF_CA 392 428 8.97e-8 SMART
EGF 433 466 3.54e-6 SMART
EGF 471 503 4.66e-6 SMART
EGF_CA 505 541 1.61e-9 SMART
EGF 546 579 9.7e-4 SMART
EGF_CA 581 617 4.52e-13 SMART
transmembrane domain 639 661 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185606
SMART Domains Protein: ENSMUSP00000140986
Gene: ENSMUSG00000036766

DomainStartEndE-ValueType
EGF 10 46 1.1e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191306
Predicted Effect probably benign
Transcript: ENSMUST00000191546
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 95% (40/42)
MGI Phenotype PHENOTYPE: Homozygous null mice display delayed cerebellar development, abnormal Bergmann glial cells, abnormal Purkinje cell innervation, and impaired coordination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik C T 9: 22,119,367 (GRCm39) noncoding transcript Het
Aass C T 6: 23,075,151 (GRCm39) probably benign Het
Abcb5 C A 12: 118,869,933 (GRCm39) V742F possibly damaging Het
Abcd4 A G 12: 84,659,602 (GRCm39) I165T probably damaging Het
Acer3 T C 7: 97,906,949 (GRCm39) Y119C probably damaging Het
Ap3d1 A T 10: 80,568,789 (GRCm39) probably benign Het
Ascc2 T A 11: 4,618,380 (GRCm39) I325N probably benign Het
Atad2b T A 12: 5,074,591 (GRCm39) I1050N probably damaging Het
Brms1l T C 12: 55,912,742 (GRCm39) V245A probably benign Het
Cadps2 T A 6: 23,263,561 (GRCm39) D1270V probably damaging Het
Cdh23 A T 10: 60,246,639 (GRCm39) M936K possibly damaging Het
Cenpj A G 14: 56,792,666 (GRCm39) probably benign Het
Dzip1 T A 14: 119,124,609 (GRCm39) R555* probably null Het
Enpp4 A T 17: 44,412,772 (GRCm39) L254* probably null Het
Erich3 T A 3: 154,444,788 (GRCm39) D518E probably benign Het
Gli2 G A 1: 118,765,236 (GRCm39) R972C probably damaging Het
Gpc1 G A 1: 92,785,031 (GRCm39) R358H possibly damaging Het
Grb7 T C 11: 98,344,634 (GRCm39) Y346H probably damaging Het
Heg1 T C 16: 33,581,173 (GRCm39) L1192P probably damaging Het
Il16 T A 7: 83,312,349 (GRCm39) Q445L probably benign Het
Il17d C T 14: 57,779,777 (GRCm39) probably benign Het
Kmt2c A T 5: 25,520,301 (GRCm39) N1936K probably benign Het
Lrrc45 T C 11: 120,609,064 (GRCm39) probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mphosph9 T A 5: 124,400,100 (GRCm39) R934* probably null Het
Nek11 T A 9: 105,172,570 (GRCm39) probably null Het
Nf1 T C 11: 79,329,537 (GRCm39) S634P probably benign Het
Or14c40 T A 7: 86,313,314 (GRCm39) M148K probably damaging Het
Pkhd1l1 T C 15: 44,396,355 (GRCm39) V1959A probably benign Het
Pkp2 G T 16: 16,043,894 (GRCm39) G216V probably benign Het
Ppp1r16a T C 15: 76,578,211 (GRCm39) L394P probably damaging Het
Ptprc G A 1: 137,996,139 (GRCm39) Q1070* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rprd2 A T 3: 95,672,730 (GRCm39) I891N probably damaging Het
Speer1e A T 5: 11,236,488 (GRCm39) T174S probably benign Het
Taf15 T C 11: 83,389,932 (GRCm39) I40T probably damaging Het
Tshz1 A G 18: 84,031,178 (GRCm39) Y1077H probably damaging Het
Ttn T C 2: 76,693,833 (GRCm39) E223G possibly damaging Het
Other mutations in Dner
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Dner APN 1 84,361,731 (GRCm39) missense probably benign 0.13
IGL02251:Dner APN 1 84,361,747 (GRCm39) missense probably damaging 1.00
IGL02904:Dner APN 1 84,512,665 (GRCm39) missense probably damaging 0.96
IGL03063:Dner APN 1 84,563,059 (GRCm39) missense possibly damaging 0.90
R0013:Dner UTSW 1 84,472,614 (GRCm39) splice site probably benign
R0112:Dner UTSW 1 84,560,774 (GRCm39) missense probably benign 0.06
R0196:Dner UTSW 1 84,348,553 (GRCm39) missense probably damaging 1.00
R0282:Dner UTSW 1 84,423,101 (GRCm39) splice site probably benign
R0282:Dner UTSW 1 84,383,686 (GRCm39) missense probably damaging 1.00
R1143:Dner UTSW 1 84,423,185 (GRCm39) missense probably damaging 1.00
R1483:Dner UTSW 1 84,563,270 (GRCm39) utr 5 prime probably benign
R1585:Dner UTSW 1 84,563,177 (GRCm39) missense probably benign 0.05
R1636:Dner UTSW 1 84,563,051 (GRCm39) missense possibly damaging 0.89
R1739:Dner UTSW 1 84,348,505 (GRCm39) missense probably damaging 0.99
R1756:Dner UTSW 1 84,423,311 (GRCm39) missense probably damaging 0.98
R1960:Dner UTSW 1 84,423,177 (GRCm39) missense probably damaging 0.98
R2061:Dner UTSW 1 84,383,710 (GRCm39) missense probably damaging 1.00
R2157:Dner UTSW 1 84,361,659 (GRCm39) missense possibly damaging 0.88
R2265:Dner UTSW 1 84,563,270 (GRCm39) utr 5 prime probably benign
R2382:Dner UTSW 1 84,348,544 (GRCm39) missense probably damaging 1.00
R2507:Dner UTSW 1 84,560,801 (GRCm39) missense probably damaging 1.00
R3053:Dner UTSW 1 84,361,747 (GRCm39) missense probably damaging 1.00
R3917:Dner UTSW 1 84,563,270 (GRCm39) utr 5 prime probably benign
R4530:Dner UTSW 1 84,560,736 (GRCm39) missense probably damaging 1.00
R4552:Dner UTSW 1 84,361,578 (GRCm39) missense probably damaging 1.00
R4579:Dner UTSW 1 84,361,537 (GRCm39) missense probably damaging 0.97
R4593:Dner UTSW 1 84,673,449 (GRCm39) start codon destroyed probably null
R4711:Dner UTSW 1 84,361,618 (GRCm39) missense possibly damaging 0.75
R5102:Dner UTSW 1 84,383,691 (GRCm39) missense probably damaging 1.00
R5314:Dner UTSW 1 84,558,460 (GRCm39) missense probably damaging 1.00
R5370:Dner UTSW 1 84,563,270 (GRCm39) utr 5 prime probably benign
R6000:Dner UTSW 1 84,361,650 (GRCm39) missense possibly damaging 0.80
R6644:Dner UTSW 1 84,373,428 (GRCm39) missense probably damaging 1.00
R6764:Dner UTSW 1 84,472,502 (GRCm39) missense probably damaging 1.00
R6948:Dner UTSW 1 84,383,738 (GRCm39) missense probably damaging 1.00
R6991:Dner UTSW 1 84,454,123 (GRCm39) nonsense probably null
R7056:Dner UTSW 1 84,558,457 (GRCm39) missense possibly damaging 0.75
R7410:Dner UTSW 1 84,563,332 (GRCm39) missense probably damaging 1.00
R7490:Dner UTSW 1 84,563,270 (GRCm39) utr 5 prime probably benign
R7869:Dner UTSW 1 84,361,602 (GRCm39) missense probably benign 0.10
R7938:Dner UTSW 1 84,673,218 (GRCm39) missense possibly damaging 0.62
R8253:Dner UTSW 1 84,512,598 (GRCm39) missense probably damaging 1.00
R9016:Dner UTSW 1 84,673,226 (GRCm39) missense probably benign 0.05
R9170:Dner UTSW 1 84,512,647 (GRCm39) missense probably damaging 1.00
R9254:Dner UTSW 1 84,673,193 (GRCm39) missense probably benign 0.03
R9763:Dner UTSW 1 84,361,656 (GRCm39) missense possibly damaging 0.75
Z1176:Dner UTSW 1 84,361,701 (GRCm39) missense possibly damaging 0.88
Z1177:Dner UTSW 1 84,423,154 (GRCm39) missense probably damaging 0.99
Z1177:Dner UTSW 1 84,423,151 (GRCm39) missense probably damaging 1.00
Z1177:Dner UTSW 1 84,383,710 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTGCCTGAGCAACCTAGACCTTG -3'
(R):5'- GCATTTGCAACGACGGCTATGAAG -3'

Sequencing Primer
(F):5'- gcctggcatctgtaaagttc -3'
(R):5'- GGTCTTAACTGTGAACAACCACTTC -3'
Posted On 2013-11-08