Incidental Mutation 'R5387:Ascl1'
ID 425343
Institutional Source Beutler Lab
Gene Symbol Ascl1
Ensembl Gene ENSMUSG00000020052
Gene Name achaete-scute family bHLH transcription factor 1
Synonyms Mash1, ASH1, bHLHa46
MMRRC Submission 042959-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5387 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 87490819-87493660 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87492689 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 134 (A134T)
Ref Sequence ENSEMBL: ENSMUSP00000020243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020243]
AlphaFold Q02067
Predicted Effect probably damaging
Transcript: ENSMUST00000020243
AA Change: A134T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020243
Gene: ENSMUSG00000020052
AA Change: A134T

DomainStartEndE-ValueType
low complexity region 11 60 N/A INTRINSIC
HLH 119 171 1.43e-19 SMART
Meta Mutation Damage Score 0.3692 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 99% (80/81)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009B22Rik A T 11: 51,685,974 (GRCm38) D32E probably benign Het
2210408I21Rik T A 13: 77,259,973 (GRCm38) S140T probably benign Het
Ahnak T C 19: 9,003,691 (GRCm38) S780P probably damaging Het
Ankhd1 C A 18: 36,634,644 (GRCm38) H1205N probably damaging Het
Ano1 T C 7: 144,648,619 (GRCm38) K139R probably benign Het
Anp32b T G 4: 46,468,573 (GRCm38) C114W probably damaging Het
Atl2 C T 17: 79,852,800 (GRCm38) E453K probably benign Het
Aup1 C T 6: 83,055,024 (GRCm38) A84V probably damaging Het
Btbd7 A T 12: 102,837,785 (GRCm38) M332K probably damaging Het
Cacna1d A G 14: 30,100,751 (GRCm38) V1107A probably damaging Het
Cd33 G A 7: 43,532,053 (GRCm38) Q114* probably null Het
Col4a4 C T 1: 82,493,591 (GRCm38) G681E unknown Het
Defb22 C A 2: 152,485,906 (GRCm38) A120S unknown Het
Dnah7b A G 1: 46,188,659 (GRCm38) I1347M probably damaging Het
Efcab5 A G 11: 77,134,842 (GRCm38) I549T possibly damaging Het
Esp15 T A 17: 39,644,577 (GRCm38) probably null Het
Fbxo7 A G 10: 86,024,654 (GRCm38) T42A probably benign Het
Filip1 A G 9: 79,818,274 (GRCm38) I1021T probably benign Het
Gad1 C A 2: 70,563,851 (GRCm38) S7* probably null Het
Gm281 C A 14: 13,914,438 (GRCm38) M1I probably null Het
H2-Q7 C T 17: 35,439,542 (GRCm38) T52M probably damaging Het
H2-T3 C T 17: 36,186,702 (GRCm38) G28R probably benign Het
Hist1h2ad T A 13: 23,574,667 (GRCm38) probably null Het
Idh2 TCCCAGG T 7: 80,098,331 (GRCm38) probably benign Het
Ift81 A G 5: 122,555,535 (GRCm38) Y604H probably damaging Het
Igsf11 A G 16: 39,022,423 (GRCm38) Y154C probably damaging Het
Kif26b G T 1: 178,914,876 (GRCm38) A846S probably benign Het
Lnx2 G A 5: 147,028,154 (GRCm38) P420S probably benign Het
Lrit2 A G 14: 37,072,259 (GRCm38) T427A probably damaging Het
Lrrc43 G T 5: 123,499,671 (GRCm38) probably null Het
Mug1 T C 6: 121,884,394 (GRCm38) Y1325H probably damaging Het
Naglu A T 11: 101,076,724 (GRCm38) Y500F probably damaging Het
Npy4r A G 14: 34,146,983 (GRCm38) M116T probably benign Het
Nrd1 A G 4: 109,039,762 (GRCm38) Y526C probably damaging Het
Nrp2 T C 1: 62,762,813 (GRCm38) S472P probably benign Het
Olfr102 T A 17: 37,314,292 (GRCm38) T31S probably benign Het
Olfr361 T C 2: 37,085,719 (GRCm38) T10A possibly damaging Het
Otogl T A 10: 107,780,933 (GRCm38) T1828S probably benign Het
Pank2 C T 2: 131,274,262 (GRCm38) T200I probably benign Het
Pbrm1 A G 14: 31,082,610 (GRCm38) Y946C probably damaging Het
Pde12 A T 14: 26,666,453 (GRCm38) S437T probably benign Het
Pikfyve A G 1: 65,265,268 (GRCm38) K1710E possibly damaging Het
Plcd3 A G 11: 103,078,455 (GRCm38) S229P probably damaging Het
Polr3a T C 14: 24,454,941 (GRCm38) I1084V possibly damaging Het
Prkaa2 C A 4: 105,040,177 (GRCm38) D280Y probably damaging Het
Ptprg T A 14: 12,153,873 (GRCm38) S531R probably damaging Het
R3hdm2 T C 10: 127,485,434 (GRCm38) S620P probably damaging Het
Rab33b A G 3: 51,493,455 (GRCm38) T117A probably damaging Het
Rasal2 T C 1: 157,157,765 (GRCm38) D804G possibly damaging Het
Rbp3 A G 14: 33,956,413 (GRCm38) T773A possibly damaging Het
Rrnad1 A T 3: 87,930,011 (GRCm38) probably benign Het
Rspry1 A G 8: 94,638,286 (GRCm38) T185A possibly damaging Het
Sec61a2 G T 2: 5,882,545 (GRCm38) probably benign Het
Setx C T 2: 29,147,594 (GRCm38) R1364C probably benign Het
Shtn1 G T 19: 59,038,369 (GRCm38) L97M probably damaging Het
Slc35f1 T C 10: 53,108,164 (GRCm38) L340P probably damaging Het
Slc45a1 T A 4: 150,643,909 (GRCm38) probably benign Het
Slmap T C 14: 26,459,933 (GRCm38) E386G probably benign Het
Smc2 C T 4: 52,475,096 (GRCm38) A924V probably benign Het
Sp110 C G 1: 85,589,118 (GRCm38) E219D probably damaging Het
Tecta G A 9: 42,375,063 (GRCm38) L766F probably damaging Het
Tle3 C T 9: 61,407,489 (GRCm38) probably null Het
Top3a A G 11: 60,762,490 (GRCm38) F53L probably damaging Het
Trem1 T C 17: 48,241,513 (GRCm38) I26T possibly damaging Het
Ttc7b G T 12: 100,446,963 (GRCm38) Q199K possibly damaging Het
Ubap2l T C 3: 90,006,596 (GRCm38) Y975C probably benign Het
Ubxn11 C A 4: 134,123,426 (GRCm38) D196E probably damaging Het
Unc80 A G 1: 66,530,021 (GRCm38) H945R possibly damaging Het
Usp15 A G 10: 123,131,286 (GRCm38) I405T probably damaging Het
Uty C T Y: 1,189,339 (GRCm38) E138K probably damaging Het
Wapl A G 14: 34,677,295 (GRCm38) E107G probably benign Het
Wbp1l T C 19: 46,644,457 (GRCm38) probably null Het
Zfp184 T G 13: 21,949,640 (GRCm38) probably benign Het
Zfp36 A C 7: 28,377,868 (GRCm38) L205R possibly damaging Het
Other mutations in Ascl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1667:Ascl1 UTSW 10 87,492,793 (GRCm38) missense probably benign 0.09
R3899:Ascl1 UTSW 10 87,492,573 (GRCm38) missense probably benign 0.16
R5436:Ascl1 UTSW 10 87,492,946 (GRCm38) missense unknown
R6058:Ascl1 UTSW 10 87,492,700 (GRCm38) missense probably damaging 1.00
R7297:Ascl1 UTSW 10 87,492,464 (GRCm38) missense probably damaging 1.00
R9168:Ascl1 UTSW 10 87,492,499 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCCATAGAGTTCAAGTCGTTG -3'
(R):5'- CTCTGGCAAGATGGAGAGTG -3'

Sequencing Primer
(F):5'- CCATAGAGTTCAAGTCGTTGGAGTAG -3'
(R):5'- GTCACAAGTCAGCGGCCAAG -3'
Posted On 2016-08-04