Incidental Mutation 'R9067:Ascl3'
ID 689311
Institutional Source Beutler Lab
Gene Symbol Ascl3
Ensembl Gene ENSMUSG00000035951
Gene Name achaete-scute family bHLH transcription factor 3
Synonyms Sgn1, bHLHa42, ICRFP703N2430Q5.4, ICRFP703B1614Q5.4
Accession Numbers
Essential gene? Not available question?
Stock # R9067 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 109326672-109330933 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 109327104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 72 (P72S)
Ref Sequence ENSEMBL: ENSMUSP00000037702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033334] [ENSMUST00000035372] [ENSMUST00000106735]
AlphaFold Q9JJR7
Predicted Effect probably benign
Transcript: ENSMUST00000033334
SMART Domains Protein: ENSMUSP00000033334
Gene: ENSMUSG00000031022

DomainStartEndE-ValueType
Pfam:DUF4537 85 225 1.1e-41 PFAM
low complexity region 258 284 N/A INTRINSIC
low complexity region 334 347 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000035372
AA Change: P72S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000037702
Gene: ENSMUSG00000035951
AA Change: P72S

DomainStartEndE-ValueType
HLH 98 150 2.5e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106735
SMART Domains Protein: ENSMUSP00000102346
Gene: ENSMUSG00000031022

DomainStartEndE-ValueType
Pfam:DUF4537 85 225 6.3e-44 PFAM
low complexity region 258 284 N/A INTRINSIC
low complexity region 334 347 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice heterozygous for a null allele are born at the expected frequency and exhibit normal growth, fertility, survival and salivary gland function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T G 2: 19,522,493 (GRCm39) D202A probably damaging Het
Aass T A 6: 23,077,123 (GRCm39) R745S probably benign Het
Adamts14 C T 10: 61,085,439 (GRCm39) R195H possibly damaging Het
Afm T C 5: 90,671,674 (GRCm39) F119L probably benign Het
Alox5ap T A 5: 149,222,190 (GRCm39) V93E probably damaging Het
Cacnb1 C A 11: 97,896,131 (GRCm39) D386Y probably damaging Het
Ccdc121rt3 T G 5: 112,502,706 (GRCm39) I333L possibly damaging Het
Cep350 T C 1: 155,737,485 (GRCm39) E2786G probably benign Het
Chd1 A T 17: 15,951,107 (GRCm39) K227N possibly damaging Het
Cyp4f13 C G 17: 33,143,801 (GRCm39) E508Q probably damaging Het
Dlgap1 T A 17: 71,116,186 (GRCm39) L843Q probably damaging Het
Elk4 T G 1: 131,942,143 (GRCm39) I5S possibly damaging Het
Erc1 A T 6: 119,774,036 (GRCm39) D306E possibly damaging Het
Fars2 G A 13: 36,388,846 (GRCm39) V112I probably benign Het
Gdf2 A T 14: 33,663,411 (GRCm39) T102S probably benign Het
Glb1 A G 9: 114,302,922 (GRCm39) N586S probably damaging Het
Gm45861 T A 8: 27,995,043 (GRCm39) S472T unknown Het
Gm5800 G A 14: 51,951,995 (GRCm39) A89V possibly damaging Het
Gpalpp1 A G 14: 76,344,792 (GRCm39) S64P probably damaging Het
Hbq1a T C 11: 32,250,400 (GRCm39) V63A probably damaging Het
Htr7 A G 19: 36,034,490 (GRCm39) V55A probably benign Het
Ica1 T A 6: 8,667,362 (GRCm39) D268V probably benign Het
Ipo8 T C 6: 148,678,730 (GRCm39) E956G probably damaging Het
Itprid2 G A 2: 79,475,180 (GRCm39) E380K probably benign Het
Jarid2 G T 13: 44,994,326 (GRCm39) V13L Het
Kdr T C 5: 76,109,428 (GRCm39) D983G probably damaging Het
Klhl23 C G 2: 69,664,083 (GRCm39) I477M possibly damaging Het
Kpna2 G T 11: 106,882,039 (GRCm39) H262Q possibly damaging Het
Lcor C T 19: 41,573,698 (GRCm39) R818W probably damaging Het
Lrrc17 G A 5: 21,766,033 (GRCm39) E172K probably benign Het
Lrrc45 A T 11: 120,606,649 (GRCm39) I184F possibly damaging Het
Med11 A G 11: 70,342,910 (GRCm39) T36A probably benign Het
Mtf2 A G 5: 108,252,133 (GRCm39) D423G probably benign Het
Ndfip2 A G 14: 105,525,157 (GRCm39) D146G probably benign Het
Nfat5 A G 8: 108,094,536 (GRCm39) I926V probably benign Het
Paqr6 T A 3: 88,273,328 (GRCm39) S107T probably damaging Het
Pdgfrb G A 18: 61,201,291 (GRCm39) S459N probably null Het
Pld5 T A 1: 175,917,474 (GRCm39) H153L probably benign Het
Pmfbp1 A G 8: 110,263,244 (GRCm39) R788G possibly damaging Het
Smok2a A C 17: 13,445,825 (GRCm39) R467S probably damaging Het
Sncaip A C 18: 53,039,973 (GRCm39) K722N probably damaging Het
Sycp2 A G 2: 177,989,214 (GRCm39) probably null Het
Syne2 T A 12: 75,950,994 (GRCm39) W382R probably damaging Het
Tiam2 T C 17: 3,561,407 (GRCm39) V1324A probably damaging Het
Tmem120b A T 5: 123,236,307 (GRCm39) I47F probably damaging Het
Tubg2 G A 11: 101,049,957 (GRCm39) C201Y probably damaging Het
Umodl1 A G 17: 31,192,677 (GRCm39) E268G probably damaging Het
Zfyve26 T G 12: 79,318,915 (GRCm39) D1141A probably damaging Het
Other mutations in Ascl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01589:Ascl3 APN 7 109,327,245 (GRCm39) missense probably benign 0.00
R9103:Ascl3 UTSW 7 109,327,127 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- TGAGGGTCTCCACTTTGCTGAG -3'
(R):5'- CGATGGACACCAGAAGCTAC -3'

Sequencing Primer
(F):5'- CTGAGCCGTTTCTCCAGGTAG -3'
(R):5'- AGACAGGCTCTCGGTCTTC -3'
Posted On 2021-11-19