Incidental Mutation 'R6042:Olig3'
ID 483621
Institutional Source Beutler Lab
Gene Symbol Olig3
Ensembl Gene ENSMUSG00000045591
Gene Name oligodendrocyte transcription factor 3
Synonyms bHLHe20, Bhlhb7
MMRRC Submission 044210-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.598) question?
Stock # R6042 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 19232287-19234352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19232503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 43 (S43P)
Ref Sequence ENSEMBL: ENSMUSP00000057106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053225]
AlphaFold Q6PFG8
Predicted Effect probably damaging
Transcript: ENSMUST00000053225
AA Change: S43P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000057106
Gene: ENSMUSG00000045591
AA Change: S43P

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
low complexity region 25 33 N/A INTRINSIC
HLH 90 144 3.68e-13 SMART
low complexity region 165 184 N/A INTRINSIC
low complexity region 186 203 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mice exhibit impaired development of class A neurons in the dorsal spinal cord, the alar plate, with reduced numbers of dI1 neurons and misspecified dI2 and dI3 neurons that assume the identity of class B neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,224,023 (GRCm39) K478M probably benign Het
Ankar G T 1: 72,713,213 (GRCm39) S474* probably null Het
Barx2 C A 9: 31,758,199 (GRCm39) E246D probably benign Het
Cdh20 A T 1: 110,065,997 (GRCm39) Q757L probably damaging Het
Cnr1 T C 4: 33,944,751 (GRCm39) F380L probably damaging Het
Cntnap5b G A 1: 100,318,317 (GRCm39) A655T probably benign Het
Col2a1 T A 15: 97,898,451 (GRCm39) probably benign Het
Crybg3 C T 16: 59,370,838 (GRCm39) R2340Q possibly damaging Het
Ctsb G T 14: 63,379,305 (GRCm39) D306Y probably damaging Het
Cyp2a22 A C 7: 26,633,664 (GRCm39) Y349D probably damaging Het
Dcpp2 T C 17: 24,117,886 (GRCm39) L22S probably damaging Het
Dnah8 G T 17: 30,966,239 (GRCm39) M2476I probably damaging Het
Dst A G 1: 34,228,053 (GRCm39) E1882G probably damaging Het
Esrp1 T C 4: 11,357,580 (GRCm39) K511E possibly damaging Het
Fat3 T A 9: 16,289,113 (GRCm39) T137S probably benign Het
Fbxw24 T A 9: 109,436,079 (GRCm39) M318L probably benign Het
Fpr-rs7 T A 17: 20,333,477 (GRCm39) T338S probably benign Het
Gcgr T C 11: 120,425,584 (GRCm39) M1T probably null Het
Grifin C A 5: 140,549,311 (GRCm39) R135L possibly damaging Het
Helz T C 11: 107,504,946 (GRCm39) probably null Het
Hivep3 C G 4: 119,955,061 (GRCm39) Q1126E possibly damaging Het
Htr3a T A 9: 48,815,999 (GRCm39) H146L probably damaging Het
Lama3 T A 18: 12,707,311 (GRCm39) V3081E probably damaging Het
Mgat5 T A 1: 127,387,636 (GRCm39) C531S probably damaging Het
Mical2 A G 7: 111,979,619 (GRCm39) D106G probably benign Het
Nectin2 C T 7: 19,472,063 (GRCm39) A109T probably benign Het
Or5an9 A T 19: 12,187,286 (GRCm39) M119L probably damaging Het
Or8b39 T A 9: 37,996,390 (GRCm39) V86E probably damaging Het
Pcdh12 T C 18: 38,414,558 (GRCm39) R856G probably damaging Het
Phpt1 T A 2: 25,464,851 (GRCm39) M1L probably benign Het
Polr2m T C 9: 71,391,080 (GRCm39) I41V probably damaging Het
Pramel28 G T 4: 143,692,631 (GRCm39) D123E probably benign Het
Pzp A G 6: 128,500,977 (GRCm39) V127A possibly damaging Het
Rgs7 G T 1: 174,977,226 (GRCm39) T126K probably damaging Het
RP23-399J5.1 T C 8: 71,542,571 (GRCm39) noncoding transcript Het
Rras A T 7: 44,669,820 (GRCm39) D112V probably damaging Het
Sdcbp2 T A 2: 151,424,646 (GRCm39) Y5* probably null Het
Slc43a2 T C 11: 75,461,433 (GRCm39) F462L probably damaging Het
Smchd1 T A 17: 71,684,052 (GRCm39) K1436* probably null Het
Snrnp27 A C 6: 86,659,902 (GRCm39) S31A unknown Het
Sqstm1 A C 11: 50,098,251 (GRCm39) F172V probably benign Het
Stk32b T A 5: 37,806,458 (GRCm39) I29F probably damaging Het
Syt10 G A 15: 89,725,824 (GRCm39) T50I probably benign Het
Syt16 T C 12: 74,313,504 (GRCm39) Y477H probably damaging Het
Tacr3 A T 3: 134,638,153 (GRCm39) T437S probably benign Het
Tg G A 15: 66,555,842 (GRCm39) D845N probably benign Het
Uqcc1 G T 2: 155,763,564 (GRCm39) S36R possibly damaging Het
Vmn1r20 T C 6: 57,409,391 (GRCm39) V239A possibly damaging Het
Xpo7 T A 14: 70,933,103 (GRCm39) Q263L possibly damaging Het
Zfp442 T C 2: 150,250,016 (GRCm39) K572E probably damaging Het
Zswim5 A C 4: 116,819,818 (GRCm39) S408R probably benign Het
Other mutations in Olig3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03094:Olig3 APN 10 19,232,878 (GRCm39) missense probably benign 0.21
R1726:Olig3 UTSW 10 19,232,482 (GRCm39) missense probably benign
R3921:Olig3 UTSW 10 19,232,423 (GRCm39) missense probably damaging 0.99
R7382:Olig3 UTSW 10 19,232,413 (GRCm39) missense unknown
R7827:Olig3 UTSW 10 19,232,518 (GRCm39) missense probably benign
R8143:Olig3 UTSW 10 19,232,732 (GRCm39) missense probably damaging 1.00
R9732:Olig3 UTSW 10 19,233,151 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACAACTGGGGAAGTGGGTTC -3'
(R):5'- GTTCAGGTCGTGCATCCTCTTG -3'

Sequencing Primer
(F):5'- AAGTGGGTTCCTGGACCTTGC -3'
(R):5'- GCGTTCGCGTCCGTTGATC -3'
Posted On 2017-07-14