Incidental Mutation 'IGL02615:Bhlhe22'
ID300630
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bhlhe22
Ensembl Gene ENSMUSG00000025128
Gene Namebasic helix-loop-helix family, member e22
SynonymsBeta3, Bhlhb5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02615
Quality Score
Status
Chromosome3
Chromosomal Location18054174-18057517 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 18054900 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 38 (T38I)
Ref Sequence ENSEMBL: ENSMUSP00000026120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026120]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026120
AA Change: T38I

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026120
Gene: ENSMUSG00000025128
AA Change: T38I

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
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 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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G T 5: 138,646,140 E96* probably null Het
Adck5 C T 15: 76,589,167 S72L possibly damaging Het
Afdn A G 17: 13,825,976 H404R probably benign Het
Aph1c A T 9: 66,819,406 V222E possibly damaging Het
Armc8 T C 9: 99,527,069 probably benign Het
Bcl2l13 A T 6: 120,862,867 D42V probably damaging Het
Ccdc51 A T 9: 109,089,435 T31S probably benign Het
Ctbp2 A G 7: 132,995,347 I669T probably benign Het
Dennd4c A G 4: 86,821,467 T998A probably benign Het
Dpp4 T C 2: 62,359,328 Y410C probably damaging Het
Gli2 T A 1: 118,844,398 N526Y probably damaging Het
Gm12394 C T 4: 42,793,027 M368I probably benign Het
Ighv1-64 A G 12: 115,507,687 I70T possibly damaging Het
Mphosph10 A T 7: 64,381,045 probably benign Het
Mrps34 A G 17: 24,895,793 probably null Het
Myo1f A T 17: 33,604,656 I1053L probably benign Het
Nckap5l G A 15: 99,429,382 P142L possibly damaging Het
Platr26 T A 2: 71,730,426 noncoding transcript Het
Rag2 T A 2: 101,629,568 Y74* probably null Het
Rnf213 A T 11: 119,440,789 M2275L probably damaging Het
Rsbn1 T A 3: 103,953,752 L498Q probably damaging Het
Scp2 A G 4: 108,107,631 V62A probably benign Het
Spag17 A G 3: 100,072,085 I1421V probably benign Het
St6galnac4 A G 2: 32,594,204 H138R probably benign Het
Syne2 T A 12: 76,096,994 M1045K probably damaging Het
Tbxas1 C T 6: 39,027,866 T349M probably damaging Het
U2surp T G 9: 95,493,231 D146A probably benign Het
Usp38 T C 8: 80,985,151 M752V probably benign Het
Other mutations in Bhlhe22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01946:Bhlhe22 APN 3 18055796 missense probably damaging 1.00
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
R4507: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
Posted On2015-04-16