Incidental Mutation 'R3945:Ascl2'
ID307651
Institutional Source Beutler Lab
Gene Symbol Ascl2
Ensembl Gene ENSMUSG00000009248
Gene Nameachaete-scute family bHLH transcription factor 2
SynonymsMash2, bHLHa45, 2410083I15Rik
MMRRC Submission 040926-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R3945 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location142966829-142969264 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 142967971 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 247 (S247G)
Ref Sequence ENSEMBL: ENSMUSP00000009392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009392] [ENSMUST00000121862]
Predicted Effect probably benign
Transcript: ENSMUST00000009392
AA Change: S247G

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000009392
Gene: ENSMUSG00000009248
AA Change: S247G

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: S179G

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113012
Gene: ENSMUSG00000009248
AA Change: S179G

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
Meta Mutation Damage Score 0.0595 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (54/54)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,289,964 I2229T probably damaging Het
4930407I10Rik T C 15: 82,065,400 L1166P probably damaging Het
Actn4 T C 7: 28,912,236 probably null Het
Adamts17 A T 7: 67,120,939 E905V probably benign Het
Adck5 A G 15: 76,595,200 N485S probably damaging Het
Agr3 C A 12: 35,947,513 probably benign Het
Ankrd12 G A 17: 65,976,103 T1921I probably damaging Het
Atp7b T C 8: 22,020,864 E422G probably benign Het
C630050I24Rik C T 8: 107,119,262 R15* probably null Het
Cabin1 T G 10: 75,745,259 Q411P probably damaging Het
Chrne T C 11: 70,617,043 I277V possibly damaging Het
Coch A G 12: 51,601,812 probably null Het
Corin A G 5: 72,358,424 V429A probably damaging Het
Cpa3 A T 3: 20,225,117 N219K probably damaging Het
Creb3l1 T C 2: 91,991,211 E273G probably damaging Het
Csmd1 A C 8: 15,910,619 probably null Het
Ddx59 A G 1: 136,434,618 D527G probably damaging Het
Defa25 G A 8: 21,084,490 V17I probably null Het
Efs A G 14: 54,920,651 probably benign Het
Ern2 A G 7: 122,176,530 M447T probably benign Het
Fgfr2 C T 7: 130,177,755 E596K possibly damaging Het
Filip1 T C 9: 79,818,367 K990R probably benign Het
Ipo8 T A 6: 148,818,117 Q110L probably damaging Het
Kank4 T A 4: 98,771,280 I854F probably damaging Het
Mst1 G A 9: 108,084,853 C681Y probably damaging Het
Nr2c2 C T 6: 92,163,138 R464W probably damaging Het
Olfr1289 C T 2: 111,483,687 Q86* probably null Het
Olfr1496 A G 19: 13,781,422 E270G probably benign Het
Pde11a T C 2: 76,075,931 probably benign Het
Ptprq A G 10: 107,686,392 probably benign Het
Rcbtb1 G A 14: 59,224,776 probably null Het
Rpl37 G A 15: 5,117,694 R72H probably benign Het
Samd9l A T 6: 3,377,029 S77R possibly damaging Het
Sin3b A G 8: 72,733,439 D218G possibly damaging Het
Slc22a23 A G 13: 34,183,126 I633T probably damaging Het
Spen T C 4: 141,477,353 D1321G unknown Het
Ssh2 T C 11: 77,454,668 S1160P possibly damaging Het
Synrg T A 11: 84,023,406 D952E probably damaging Het
Tigd3 A G 19: 5,892,433 F223S probably damaging Het
Trim66 G A 7: 109,472,268 T608I possibly damaging Het
Trmt13 A G 3: 116,581,518 F447S probably damaging Het
Trpc2 T C 7: 102,088,279 I800T possibly damaging Het
Ugt3a2 A T 15: 9,370,098 I443F possibly damaging Het
Vamp2 C A 11: 69,089,174 P24Q unknown Het
Vmn1r113 A G 7: 20,787,712 Y143C probably benign Het
Vmn1r14 T A 6: 57,234,269 N277K probably benign Het
Vmn1r181 T A 7: 23,984,152 V14E probably damaging Het
Wdfy4 A T 14: 32,966,395 I3086N probably damaging Het
Zfp988 A C 4: 147,332,785 K559Q probably benign Het
Other mutations in Ascl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Ascl2 APN 7 142968388 missense probably benign 0.00
R0466:Ascl2 UTSW 7 142968480 missense probably benign 0.00
R1909:Ascl2 UTSW 7 142968163 missense probably damaging 1.00
R2511:Ascl2 UTSW 7 142968216 missense probably damaging 1.00
R5064:Ascl2 UTSW 7 142968259 missense possibly damaging 0.67
R5344:Ascl2 UTSW 7 142968699 missense possibly damaging 0.53
R7761:Ascl2 UTSW 7 142968103 missense possibly damaging 0.88
R8172:Ascl2 UTSW 7 142968599 missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- AACAAACGCCGGTCTTGCTC -3'
(R):5'- GCTGTTAACACCCGCTACTC -3'

Sequencing Primer
(F):5'- CGGTCTTGCTCAGGCTTGAAAAAG -3'
(R):5'- TACTCCGCCGTCCGATGAG -3'
Posted On2015-04-17