Incidental Mutation 'IGL01323:Ascl2'
ID 74143
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ascl2
Ensembl Gene ENSMUSG00000009248
Gene Name achaete-scute family bHLH transcription factor 2
Synonyms 2410083I15Rik, bHLHa45, Mash2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01323
Quality Score
Status
Chromosome 7
Chromosomal Location 142520566-142523001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 142522125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 108 (S108P)
Ref Sequence ENSEMBL: ENSMUSP00000009392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009392] [ENSMUST00000121862]
AlphaFold O35885
Predicted Effect probably benign
Transcript: ENSMUST00000009392
AA Change: S108P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000009392
Gene: ENSMUSG00000009248
AA Change: S108P

DomainStartEndE-ValueType
HLH 124 176 3.06e-19 SMART
low complexity region 182 195 N/A INTRINSIC
low complexity region 202 220 N/A INTRINSIC
low complexity region 230 247 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121862
AA Change: S40P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113012
Gene: ENSMUSG00000009248
AA Change: S40P

DomainStartEndE-ValueType
HLH 56 108 3.06e-19 SMART
low complexity region 114 127 N/A INTRINSIC
low complexity region 134 152 N/A INTRINSIC
low complexity region 162 179 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.] This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele or heterozygous for a maternally inherited allele exhibit embryonic lethality during organogenesis associated with abnormal embryogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,713,415 (GRCm39) D1272G probably damaging Het
B3gat1 T C 9: 26,667,206 (GRCm39) V146A possibly damaging Het
Barhl1 C T 2: 28,805,558 (GRCm39) S45N probably benign Het
Birc6 C T 17: 74,929,920 (GRCm39) A2370V probably damaging Het
C1qtnf7 A G 5: 43,766,602 (GRCm39) D67G possibly damaging Het
Cand2 A G 6: 115,762,086 (GRCm39) T171A probably benign Het
Ccdc77 T C 6: 120,311,757 (GRCm39) Q247R probably benign Het
Cenpp A T 13: 49,801,118 (GRCm39) V100D probably damaging Het
Cep135 A G 5: 76,739,612 (GRCm39) T3A probably benign Het
Eef2k T C 7: 120,484,038 (GRCm39) probably benign Het
Fga T C 3: 82,937,518 (GRCm39) S132P probably damaging Het
Gpr6 T A 10: 40,947,555 (GRCm39) N9I possibly damaging Het
Gvin2 A G 7: 105,546,009 (GRCm39) S2348P possibly damaging Het
Hacd3 A G 9: 64,905,587 (GRCm39) F184L probably damaging Het
Heatr1 T C 13: 12,413,819 (GRCm39) I132T possibly damaging Het
Igfbp7 A G 5: 77,499,884 (GRCm39) probably benign Het
Ighv8-6 T C 12: 115,129,477 (GRCm39) D93G possibly damaging Het
Izumo3 A G 4: 92,034,627 (GRCm39) probably benign Het
Jade2 T C 11: 51,716,165 (GRCm39) T347A possibly damaging Het
Kif18a A G 2: 109,128,787 (GRCm39) T419A probably benign Het
Krt34 A G 11: 99,929,606 (GRCm39) S267P possibly damaging Het
Krt4 T G 15: 101,828,716 (GRCm39) K383Q probably damaging Het
Lgals7 G T 7: 28,564,989 (GRCm39) E42D probably benign Het
Morc2b A G 17: 33,356,293 (GRCm39) V493A possibly damaging Het
Mtif2 T A 11: 29,491,447 (GRCm39) S557R probably damaging Het
Nup43 T A 10: 7,545,320 (GRCm39) F83I probably benign Het
Oosp2 A G 19: 11,624,825 (GRCm39) L155S probably damaging Het
Or1o1 G T 17: 37,717,031 (GRCm39) M197I probably benign Het
Plxnd1 T A 6: 115,943,760 (GRCm39) T1180S possibly damaging Het
Prpf39 T A 12: 65,089,498 (GRCm39) F79I possibly damaging Het
Prph G A 15: 98,956,517 (GRCm39) S465N possibly damaging Het
Purg A T 8: 33,876,631 (GRCm39) I90L probably damaging Het
Pxdn C A 12: 30,037,136 (GRCm39) Q305K probably benign Het
R3hdm1 G A 1: 128,144,280 (GRCm39) S816N probably benign Het
Src G A 2: 157,311,423 (GRCm39) G461R probably damaging Het
Tmem201 G A 4: 149,804,045 (GRCm39) probably benign Het
Tnfrsf22 G A 7: 143,197,111 (GRCm39) P76L probably damaging Het
Triml1 T C 8: 43,591,600 (GRCm39) probably null Het
Upp1 A G 11: 9,086,100 (GRCm39) *312W probably null Het
Wdfy3 G T 5: 102,042,930 (GRCm39) S1940R probably damaging Het
Xpc T C 6: 91,469,335 (GRCm39) Y804C probably damaging Het
Xrn2 C T 2: 146,876,767 (GRCm39) probably benign Het
Zfp106 A T 2: 120,354,945 (GRCm39) D1275E possibly damaging Het
Other mutations in Ascl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0466:Ascl2 UTSW 7 142,522,217 (GRCm39) missense probably benign 0.00
R1909:Ascl2 UTSW 7 142,521,900 (GRCm39) missense probably damaging 1.00
R2511:Ascl2 UTSW 7 142,521,953 (GRCm39) missense probably damaging 1.00
R3945:Ascl2 UTSW 7 142,521,708 (GRCm39) missense probably benign 0.20
R5064:Ascl2 UTSW 7 142,521,996 (GRCm39) missense possibly damaging 0.67
R5344:Ascl2 UTSW 7 142,522,436 (GRCm39) missense possibly damaging 0.53
R7761:Ascl2 UTSW 7 142,521,840 (GRCm39) missense possibly damaging 0.88
R8172:Ascl2 UTSW 7 142,522,336 (GRCm39) missense possibly damaging 0.72
R9274:Ascl2 UTSW 7 142,521,753 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07