Incidental Mutation 'IGL01589:Ascl3'
ID 91542
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01589
Quality Score
Status
Chromosome 7
Chromosomal Location 109326672-109330933 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109327245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 25 (S25P)
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: S25P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000037702
Gene: ENSMUSG00000035951
AA Change: S25P

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
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,046,003 (GRCm39) F307S probably damaging Het
Abcc6 A T 7: 45,652,096 (GRCm39) probably benign Het
Adamts12 T A 15: 11,311,323 (GRCm39) D1193E probably benign Het
Akap6 T A 12: 53,186,447 (GRCm39) L1287H probably damaging Het
Brd2 A G 17: 34,336,016 (GRCm39) S66P probably damaging Het
Cacna1i C A 15: 80,271,960 (GRCm39) probably benign Het
Cdc5l T C 17: 45,715,602 (GRCm39) Y670C probably damaging Het
Clybl T A 14: 122,608,834 (GRCm39) I142N probably damaging Het
Cyp2c66 T C 19: 39,172,379 (GRCm39) probably null Het
Dck C T 5: 88,922,095 (GRCm39) probably benign Het
Dsg1b T C 18: 20,542,651 (GRCm39) Y1053H probably damaging Het
Gm9912 T C 3: 148,890,986 (GRCm39) D49G unknown Het
Gpr107 T C 2: 31,057,163 (GRCm39) probably benign Het
Hsd3b7 T C 7: 127,402,036 (GRCm39) F227S probably damaging Het
Lrrtm2 T A 18: 35,345,851 (GRCm39) N484Y probably damaging Het
Muc19 A T 15: 91,754,699 (GRCm39) noncoding transcript Het
Nodal G A 10: 61,254,176 (GRCm39) R33Q probably benign Het
Or1a1 T C 11: 74,086,587 (GRCm39) L86P probably damaging Het
Plcb4 A G 2: 135,809,038 (GRCm39) I569V probably benign Het
Plekhg1 T C 10: 3,913,631 (GRCm39) Y1118H probably benign Het
Polr2a T G 11: 69,632,020 (GRCm39) E1015D probably benign Het
Recql5 A G 11: 115,785,495 (GRCm39) F667S probably damaging Het
Scube1 T C 15: 83,496,754 (GRCm39) Y749C probably damaging Het
Serpinb1c C A 13: 33,070,155 (GRCm39) V136F probably damaging Het
Slain2 T C 5: 73,098,789 (GRCm39) probably benign Het
Slc10a7 T C 8: 79,456,369 (GRCm39) S296P probably damaging Het
Sspo C T 6: 48,428,112 (GRCm39) R320W probably damaging Het
Usp16 G A 16: 87,276,071 (GRCm39) A469T probably benign Het
Vmn2r102 A T 17: 19,899,066 (GRCm39) L469F probably benign Het
Zfp772 A G 7: 7,208,523 (GRCm39) F107S possibly damaging Het
Other mutations in Ascl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R9067:Ascl3 UTSW 7 109,327,104 (GRCm39) missense probably benign 0.01
R9103:Ascl3 UTSW 7 109,327,127 (GRCm39) missense probably benign 0.25
Posted On 2013-12-09