Incidental Mutation 'R4507:Bhlhe22'
ID332043
Institutional Source Beutler Lab
Gene Symbol Bhlhe22
Ensembl Gene ENSMUSG00000025128
Gene Namebasic helix-loop-helix family, member e22
SynonymsBeta3, Bhlhb5
MMRRC Submission 041756-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4507 (G1)
Quality Score133
Status Validated
Chromosome3
Chromosomal Location18054174-18057517 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 18054959 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 58 (S58P)
Ref Sequence ENSEMBL: ENSMUSP00000026120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026120]
Predicted Effect probably benign
Transcript: ENSMUST00000026120
AA Change: S58P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026120
Gene: ENSMUSG00000025128
AA Change: S58P

DomainStartEndE-ValueType
low complexity region 71 106 N/A INTRINSIC
low complexity region 155 172 N/A INTRINSIC
low complexity region 185 212 N/A INTRINSIC
HLH 222 276 2.72e-16 SMART
low complexity region 289 314 N/A INTRINSIC
Meta Mutation Damage Score 0.0578 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 100% (41/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar protein in mouse is required for the development of the dorsal cochlear nuclei, and is thought to play a role in in the differentiation of neurons involved in sensory input. The mouse protein also functions in retinogenesis. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a null mutation are slow to gain weight, develop skin lesions, have reduced numbers of specific subtypes of amacrine and cone bipolar cells, and exhibit abnormal innervation of the corticospinal tract. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 131,145,872 Y83C probably damaging Het
Abca8a A T 11: 110,063,025 I863N probably benign Het
Abr A G 11: 76,451,857 I608T possibly damaging Het
Aebp1 A G 11: 5,870,565 Y485C probably damaging Het
Akap5 A G 12: 76,327,907 K38E possibly damaging Het
Bmp3 A T 5: 98,879,774 I418L probably damaging Het
Carmil3 GGACGA GGA 14: 55,499,476 probably benign Het
Catsperb T A 12: 101,480,828 probably null Het
Clasrp C A 7: 19,585,240 probably benign Het
Clic1 A G 17: 35,052,785 T52A probably benign Het
Dnah7c C T 1: 46,766,611 R3407C probably damaging Het
Elp2 A G 18: 24,626,120 probably null Het
Epha10 A G 4: 124,915,687 probably benign Het
Fbxo18 A G 2: 11,749,017 V838A possibly damaging Het
Folh1 T C 7: 86,757,008 T286A probably benign Het
Gm8909 A T 17: 36,161,480 probably benign Het
Hcn2 T A 10: 79,724,786 I317N probably damaging Het
Hectd1 A T 12: 51,790,493 L760I probably damaging Het
Hoxc10 A T 15: 102,966,952 Y32F probably damaging Het
Krtcap2 A G 3: 89,246,256 probably benign Het
Lhx5 C A 5: 120,440,008 H298N possibly damaging Het
Mdh1 C T 11: 21,558,470 V291M probably benign Het
Myh14 T C 7: 44,629,991 T963A probably benign Het
Mylk T C 16: 34,953,695 F1305L probably benign Het
Olfr1258 C T 2: 89,930,351 P181S possibly damaging Het
Olfr877 T C 9: 37,854,905 F29S possibly damaging Het
Parp11 A G 6: 127,474,283 R99G probably damaging Het
Phactr1 C A 13: 43,096,794 T522N probably damaging Het
Ptprs T C 17: 56,419,014 T1423A probably damaging Het
Ralgapa2 T C 2: 146,353,248 I1253V probably benign Het
Ric8a A G 7: 140,858,516 I223V probably benign Het
Samd4b A G 7: 28,407,500 M329T probably benign Het
Srrm4 T C 5: 116,446,553 Y486C probably damaging Het
Taar3 A G 10: 23,949,573 I6V possibly damaging Het
Tec T C 5: 72,760,358 D506G probably damaging Het
Trabd A G 15: 89,085,630 I316V probably damaging Het
Ubr5 A T 15: 38,013,542 F952I probably damaging Het
Vat1l T C 8: 114,205,816 L34P probably benign Het
Other mutations in Bhlhe22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01946:Bhlhe22 APN 3 18055796 missense probably damaging 1.00
IGL02615:Bhlhe22 APN 3 18054900 missense possibly damaging 0.75
butchered UTSW 3 18055569 missense probably damaging 1.00
R0047:Bhlhe22 UTSW 3 18055569 missense probably damaging 1.00
R1462:Bhlhe22 UTSW 3 18055782 missense probably damaging 1.00
R1462:Bhlhe22 UTSW 3 18055782 missense probably damaging 1.00
R1832:Bhlhe22 UTSW 3 18054975 missense probably damaging 0.99
R2025:Bhlhe22 UTSW 3 18055811 missense probably benign 0.02
R2400:Bhlhe22 UTSW 3 18055451 missense probably damaging 0.99
R3981:Bhlhe22 UTSW 3 18054894 missense probably damaging 0.96
R4505:Bhlhe22 UTSW 3 18054959 missense probably benign
R6128:Bhlhe22 UTSW 3 18055823 missense probably damaging 1.00
R6317:Bhlhe22 UTSW 3 18055614 missense probably damaging 1.00
R7199:Bhlhe22 UTSW 3 18055842 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGGTGAGCCTTAGCAGC -3'
(R):5'- ACCATGCAAGTGGGCGTTG -3'

Sequencing Primer
(F):5'- TGACTCTCCAGCCCAGGTG -3'
(R):5'- GTACTTGAGGCACAGGGC -3'
Posted On2015-07-21