Incidental Mutation 'R3981:Bhlhe22'
ID 351151
Institutional Source Beutler Lab
Gene Symbol Bhlhe22
Ensembl Gene ENSMUSG00000025128
Gene Name basic helix-loop-helix family, member e22
Synonyms Bhlhb5, Beta3
MMRRC Submission 040943-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3981 (G1)
Quality Score 213
Status Validated
Chromosome 3
Chromosomal Location 18108489-18111678 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 18109058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 36 (R36L)
Ref Sequence ENSEMBL: ENSMUSP00000026120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026120]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026120
AA Change: R36L

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026120
Gene: ENSMUSG00000025128
AA Change: R36L

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 0.0931 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (58/59)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,482,407 (GRCm39) C4313G probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Cacnb2 A G 2: 14,609,314 (GRCm39) E18G probably benign Het
Cct2 G A 10: 116,890,040 (GRCm39) P10L probably damaging Het
Cep295 G T 9: 15,228,363 (GRCm39) probably benign Het
Cep89 A G 7: 35,137,808 (GRCm39) R731G probably damaging Het
Chrnb3 C T 8: 27,884,034 (GRCm39) T257M probably damaging Het
Clca3a1 T A 3: 144,461,070 (GRCm39) T194S probably benign Het
Clca4b T C 3: 144,631,797 (GRCm39) K236R probably benign Het
Col18a1 C A 10: 76,924,721 (GRCm39) D23Y probably damaging Het
Cry1 A T 10: 84,982,456 (GRCm39) Y297N probably damaging Het
Defb38 A G 8: 19,076,483 (GRCm39) probably null Het
Dlgap1 A G 17: 70,823,780 (GRCm39) K255R probably damaging Het
Erich6 T C 3: 58,544,125 (GRCm39) E154G probably benign Het
Esf1 G A 2: 140,000,476 (GRCm39) P437S probably benign Het
Fkbp7 A C 2: 76,493,601 (GRCm39) N197K probably damaging Het
Fsip2 T A 2: 82,789,006 (GRCm39) D342E probably benign Het
Gbx1 T C 5: 24,731,213 (GRCm39) D201G probably benign Het
Gm15056 T A 8: 21,390,957 (GRCm39) K25N possibly damaging Het
Grb7 T G 11: 98,345,391 (GRCm39) probably benign Het
H2-M3 C T 17: 37,582,021 (GRCm39) A159V probably damaging Het
Hcar1 T C 5: 124,016,683 (GRCm39) N336S probably benign Het
Ift122 T C 6: 115,890,882 (GRCm39) V807A probably benign Het
Maml2 T C 9: 13,532,364 (GRCm39) V526A possibly damaging Het
Map3k20 C T 2: 72,268,571 (GRCm39) T526I probably damaging Het
Mfap2 A G 4: 140,741,554 (GRCm39) Q71R possibly damaging Het
Mmd2 T C 5: 142,550,554 (GRCm39) Y228C probably damaging Het
Mme T A 3: 63,235,485 (GRCm39) Y178N probably damaging Het
Mras T C 9: 99,293,469 (GRCm39) D57G probably damaging Het
Muc5ac T C 7: 141,367,512 (GRCm39) C2274R possibly damaging Het
Or8j3c T A 2: 86,253,186 (GRCm39) Y278F probably damaging Het
Palmd T C 3: 116,717,472 (GRCm39) T342A probably benign Het
Prb1b G A 6: 132,289,657 (GRCm39) P56S unknown Het
Rdh19 A G 10: 127,686,017 (GRCm39) N43S probably benign Het
Ros1 G A 10: 51,996,974 (GRCm39) H1233Y possibly damaging Het
Samd8 A G 14: 21,830,248 (GRCm39) R225G probably null Het
Slc7a11 C A 3: 50,382,223 (GRCm39) V175L probably benign Het
Spata31d1c A G 13: 65,182,925 (GRCm39) T156A possibly damaging Het
Spata31g1 C T 4: 42,971,534 (GRCm39) T289I probably damaging Het
Spmip9 T C 6: 70,890,283 (GRCm39) N170D possibly damaging Het
Stxbp5 T C 10: 9,665,060 (GRCm39) probably benign Het
Tec T A 5: 72,980,942 (GRCm39) probably benign Het
Vps16 T C 2: 130,284,514 (GRCm39) W728R possibly damaging Het
Xirp1 T C 9: 119,846,810 (GRCm39) E691G probably damaging Het
Zfp605 T C 5: 110,275,604 (GRCm39) S241P probably damaging Het
Zfp839 G A 12: 110,832,765 (GRCm39) G561D probably damaging Het
Other mutations in Bhlhe22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01946:Bhlhe22 APN 3 18,109,960 (GRCm39) missense probably damaging 1.00
IGL02615:Bhlhe22 APN 3 18,109,064 (GRCm39) missense possibly damaging 0.75
butchered UTSW 3 18,109,733 (GRCm39) missense probably damaging 1.00
R0047:Bhlhe22 UTSW 3 18,109,733 (GRCm39) missense probably damaging 1.00
R1462:Bhlhe22 UTSW 3 18,109,946 (GRCm39) missense probably damaging 1.00
R1462:Bhlhe22 UTSW 3 18,109,946 (GRCm39) missense probably damaging 1.00
R1832:Bhlhe22 UTSW 3 18,109,139 (GRCm39) missense probably damaging 0.99
R2025:Bhlhe22 UTSW 3 18,109,975 (GRCm39) missense probably benign 0.02
R2400:Bhlhe22 UTSW 3 18,109,615 (GRCm39) missense probably damaging 0.99
R4505:Bhlhe22 UTSW 3 18,109,123 (GRCm39) missense probably benign
R4507:Bhlhe22 UTSW 3 18,109,123 (GRCm39) missense probably benign
R6128:Bhlhe22 UTSW 3 18,109,987 (GRCm39) missense probably damaging 1.00
R6317:Bhlhe22 UTSW 3 18,109,778 (GRCm39) missense probably damaging 1.00
R7199:Bhlhe22 UTSW 3 18,110,006 (GRCm39) missense probably damaging 1.00
R9124:Bhlhe22 UTSW 3 18,109,342 (GRCm39) missense probably damaging 0.99
R9214:Bhlhe22 UTSW 3 18,109,024 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATGGTGAGCCTTAGCAGC -3'
(R):5'- ACCATGCAAGTGGGCGTTG -3'

Sequencing Primer
(F):5'- CAGCAGCTCCGGAACCC -3'
(R):5'- GTACTTGAGGCACAGGGC -3'
Posted On 2015-10-08