Incidental Mutation 'R9168:Ascl1'
ID 696197
Institutional Source Beutler Lab
Gene Symbol Ascl1
Ensembl Gene ENSMUSG00000020052
Gene Name achaete-scute family bHLH transcription factor 1
Synonyms Mash1, bHLHa46, ASH1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9168 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 87326681-87329522 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87328361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 197 (N197S)
Ref Sequence ENSEMBL: ENSMUSP00000020243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020243]
AlphaFold Q02067
Predicted Effect probably benign
Transcript: ENSMUST00000020243
AA Change: N197S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000020243
Gene: ENSMUSG00000020052
AA Change: N197S

DomainStartEndE-ValueType
low complexity region 11 60 N/A INTRINSIC
HLH 119 171 1.43e-19 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 97% (67/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants show impaired development of olfactory, sympathetic, parasympathetic, and enteric ganglia, lung neuroendocrine and adrenal chromaffin cells, and various brain centers, and die at birth with feeding and breathing problems. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alppl2 T C 1: 87,015,050 (GRCm39) Y437C probably damaging Het
Arhgef11 T G 3: 87,633,790 (GRCm39) L808R probably damaging Het
Armc7 G A 11: 115,366,724 (GRCm39) probably benign Het
Cdc42bpb T G 12: 111,286,517 (GRCm39) E630D possibly damaging Het
Cep128 T C 12: 91,233,794 (GRCm39) I425V probably damaging Het
Ces4a T A 8: 105,876,050 (GRCm39) D530E probably benign Het
Ch25h T C 19: 34,451,905 (GRCm39) I208V probably benign Het
Cnpy3 A C 17: 47,063,019 (GRCm39) C11G unknown Het
Col12a1 A C 9: 79,548,783 (GRCm39) Y2187* probably null Het
Cyp2c40 C T 19: 39,755,819 (GRCm39) M498I probably benign Het
D630039A03Rik T A 4: 57,910,113 (GRCm39) Y233F probably damaging Het
Dffa A T 4: 149,192,226 (GRCm39) D100V probably damaging Het
Dock7 A T 4: 98,953,643 (GRCm39) M363K Het
Dscam A G 16: 96,420,768 (GRCm39) V1706A possibly damaging Het
En1 A G 1: 120,530,892 (GRCm39) D44G unknown Het
Enpp4 T A 17: 44,413,141 (GRCm39) N131I probably damaging Het
Ezh1 T C 11: 101,086,433 (GRCm39) D587G probably damaging Het
Gm21149 G T 5: 15,677,132 (GRCm39) H241N possibly damaging Het
Gna15 T C 10: 81,350,192 (GRCm39) Y70C probably damaging Het
Gucy1a1 T G 3: 82,009,353 (GRCm39) M552L probably damaging Het
Herc2 G A 7: 55,802,208 (GRCm39) V2017M probably damaging Het
Hsf4 C T 8: 105,999,373 (GRCm39) A297V probably benign Het
Ighd T A 12: 113,379,203 (GRCm39) T122S Het
Iqca1 C T 1: 90,065,937 (GRCm39) R218Q probably damaging Het
Isl2 C A 9: 55,452,227 (GRCm39) S266R probably benign Het
Itpkb A C 1: 180,160,028 (GRCm39) R51S probably benign Het
Jup A T 11: 100,274,219 (GRCm39) probably null Het
Kbtbd6 T C 14: 79,690,553 (GRCm39) V416A possibly damaging Het
Klhl22 T A 16: 17,602,068 (GRCm39) Y372N probably damaging Het
Klrc3 T C 6: 129,616,142 (GRCm39) E191G probably damaging Het
Lhx5 A G 5: 120,570,410 (GRCm39) D22G probably benign Het
Marchf9 GGGCGGCGGCGGCGGCG GGGCGGCGGCGGCG 10: 126,895,360 (GRCm39) probably benign Het
Mbtps1 A G 8: 120,248,602 (GRCm39) I707T probably benign Het
Nbeal1 T A 1: 60,331,047 (GRCm39) Y2219N probably damaging Het
Neb A G 2: 52,085,696 (GRCm39) I5513T probably damaging Het
Nkx1-1 C T 5: 33,591,131 (GRCm39) V64M unknown Het
Nme4 G T 17: 26,314,389 (GRCm39) A13E probably benign Het
Or2g25 T C 17: 37,971,047 (GRCm39) Y59C probably damaging Het
Or52e18 A G 7: 104,609,001 (GRCm39) *313R probably null Het
Or7e173 T C 9: 19,938,818 (GRCm39) M139V probably benign Het
Osbpl3 A T 6: 50,329,762 (GRCm39) probably null Het
Phc3 T A 3: 30,961,544 (GRCm39) M963L probably benign Het
Phf20 C T 2: 156,109,234 (GRCm39) P194S probably benign Het
Pou1f1 C T 16: 65,317,427 (GRCm39) probably benign Het
Pramel46 T A 5: 95,418,133 (GRCm39) M288L probably benign Het
Prdm13 C G 4: 21,679,659 (GRCm39) R277P unknown Het
Prelid1 A G 13: 55,470,010 (GRCm39) K3R possibly damaging Het
Psd C A 19: 46,309,233 (GRCm39) D575Y probably damaging Het
Ptger3 C A 3: 157,273,424 (GRCm39) T257K probably damaging Het
Pth1r T C 9: 110,556,204 (GRCm39) H223R probably benign Het
Ptk2b C T 14: 66,424,899 (GRCm39) E182K probably damaging Het
Ptprj T C 2: 90,294,916 (GRCm39) T431A possibly damaging Het
Rbbp5 T A 1: 132,417,464 (GRCm39) D119E probably benign Het
Rest GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC 5: 77,429,651 (GRCm39) probably benign Het
Rinl T G 7: 28,490,084 (GRCm39) L41R possibly damaging Het
Rrp12 A G 19: 41,865,603 (GRCm39) V730A probably benign Het
Saraf G T 8: 34,632,343 (GRCm39) V141L possibly damaging Het
Slc6a13 T C 6: 121,302,042 (GRCm39) L208P probably damaging Het
Slc9a9 C A 9: 94,595,000 (GRCm39) T170K probably damaging Het
Spata31f1e T C 4: 42,793,380 (GRCm39) T251A probably benign Het
Stk33 T C 7: 108,928,747 (GRCm39) N255S probably damaging Het
Tenm2 C T 11: 35,930,722 (GRCm39) V1769M probably damaging Het
Themis C A 10: 28,658,233 (GRCm39) T420N probably benign Het
Tmem116 T C 5: 121,605,975 (GRCm39) V109A Het
Tnfaip2 T A 12: 111,411,382 (GRCm39) L2Q probably damaging Het
Trub1 T C 19: 57,452,859 (GRCm39) probably null Het
Ttn C T 2: 76,679,260 (GRCm39) V10821I unknown Het
Ube2j1 C A 4: 33,045,111 (GRCm39) A197D probably benign Het
Vmn2r101 T A 17: 19,809,138 (GRCm39) I89N probably damaging Het
Wfikkn1 T C 17: 26,097,145 (GRCm39) Y393C probably damaging Het
Zfp729b C A 13: 67,741,942 (GRCm39) E108* probably null Het
Zfp976 A T 7: 42,263,011 (GRCm39) C276* probably null Het
Other mutations in Ascl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1667:Ascl1 UTSW 10 87,328,655 (GRCm39) missense probably benign 0.09
R3899:Ascl1 UTSW 10 87,328,435 (GRCm39) missense probably benign 0.16
R5387:Ascl1 UTSW 10 87,328,551 (GRCm39) missense probably damaging 1.00
R5436:Ascl1 UTSW 10 87,328,808 (GRCm39) missense unknown
R6058:Ascl1 UTSW 10 87,328,562 (GRCm39) missense probably damaging 1.00
R7297:Ascl1 UTSW 10 87,328,326 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTAGTCAAGAAAGGCTCTGC -3'
(R):5'- TCAAGTTGGTCAACCTGGG -3'

Sequencing Primer
(F):5'- TCTGCCCATCCCCACATGAAG -3'
(R):5'- GGTCAACCTGGGTTTTGCCAC -3'
Posted On 2022-02-07