Incidental Mutation 'R7199:Bhlhe22'
ID 560138
Institutional Source Beutler Lab
Gene Symbol Bhlhe22
Ensembl Gene ENSMUSG00000025128
Gene Name basic helix-loop-helix family, member e22
Synonyms Bhlhb5, Beta3
MMRRC Submission 045277-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7199 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 18108489-18111678 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 18110006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 352 (T352K)
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: T352K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026120
Gene: ENSMUSG00000025128
AA Change: T352K

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A G 16: 88,555,902 (GRCm39) T39A probably damaging Het
Abca3 G A 17: 24,596,681 (GRCm39) G378D probably damaging Het
Abtb2 T C 2: 103,397,565 (GRCm39) V165A possibly damaging Het
Ache A G 5: 137,288,504 (GRCm39) E70G probably damaging Het
Adamtsl4 T C 3: 95,588,119 (GRCm39) T623A probably benign Het
Ahdc1 G A 4: 132,791,935 (GRCm39) V1059I probably benign Het
Ajuba G A 14: 54,810,915 (GRCm39) Q357* probably null Het
Ano7 A T 1: 93,330,700 (GRCm39) D54V Het
Apob A T 12: 8,055,072 (GRCm39) D1357V probably damaging Het
Atad2b T A 12: 5,067,992 (GRCm39) Y997N probably damaging Het
Bsn T C 9: 107,992,533 (GRCm39) E1073G probably damaging Het
Bzw2 G A 12: 36,180,054 (GRCm39) R58* probably null Het
C7 G T 15: 5,023,725 (GRCm39) S694R probably benign Het
Cbr2 T A 11: 120,621,087 (GRCm39) H170L probably benign Het
Cdcp3 G A 7: 130,837,641 (GRCm39) W512* probably null Het
Cgas C A 9: 78,340,315 (GRCm39) K472N probably benign Het
Ckap2l T C 2: 129,126,975 (GRCm39) N401S probably benign Het
Cldn1 A G 16: 26,190,346 (GRCm39) F11L probably benign Het
Cmtr1 A G 17: 29,895,174 (GRCm39) T118A probably benign Het
Cog6 T C 3: 52,890,610 (GRCm39) E610G probably benign Het
Col3a1 G T 1: 45,371,301 (GRCm39) A451S probably null Het
Cr1l T A 1: 194,799,878 (GRCm39) R265S probably benign Het
Dapk1 T C 13: 60,902,024 (GRCm39) I951T probably benign Het
Dnah9 T C 11: 66,009,770 (GRCm39) N706D probably benign Het
Dpysl5 A T 5: 30,940,539 (GRCm39) T239S probably benign Het
Ect2l T A 10: 18,004,894 (GRCm39) Y913F probably benign Het
Elf5 C A 2: 103,269,641 (GRCm39) A74D possibly damaging Het
Erap1 T C 13: 74,814,258 (GRCm39) V399A probably benign Het
Ercc4 A G 16: 12,965,657 (GRCm39) D763G probably damaging Het
Fam222b T A 11: 78,045,683 (GRCm39) C415S possibly damaging Het
Fat4 A C 3: 39,031,511 (GRCm39) N2432T probably damaging Het
Fbn2 G T 18: 58,186,833 (GRCm39) C1689* probably null Het
Frrs1l T A 4: 56,972,282 (GRCm39) T140S probably damaging Het
Gm5141 A T 13: 62,924,877 (GRCm39) H10Q possibly damaging Het
Inafm1 A T 7: 16,007,079 (GRCm39) L46Q probably damaging Het
Irak2 T C 6: 113,650,045 (GRCm39) L260P probably damaging Het
Kat2b T C 17: 53,977,706 (GRCm39) L751P probably damaging Het
Kcnh1 T A 1: 192,019,913 (GRCm39) I413N probably benign Het
Kirrel1 T C 3: 86,990,695 (GRCm39) D709G probably benign Het
Lama4 T C 10: 38,956,536 (GRCm39) V1153A possibly damaging Het
Lipg A T 18: 75,088,655 (GRCm39) F98L probably benign Het
Lman1 T C 18: 66,127,936 (GRCm39) E236G probably damaging Het
Lrp1 T A 10: 127,409,325 (GRCm39) D1598V probably damaging Het
Lrrc71 T A 3: 87,650,384 (GRCm39) N230Y probably damaging Het
Maneal T C 4: 124,750,983 (GRCm39) S258G possibly damaging Het
Marchf10 T A 11: 105,281,532 (GRCm39) E251V probably damaging Het
Mpdz A G 4: 81,215,570 (GRCm39) I1484T probably damaging Het
Mtcl1 T A 17: 66,647,534 (GRCm39) N1882I probably benign Het
Neb G A 2: 52,110,212 (GRCm39) A212V probably benign Het
Obscn G A 11: 58,903,672 (GRCm39) S7434L probably benign Het
Or14j8 A C 17: 38,263,048 (GRCm39) I289S probably damaging Het
Or1ad8 T A 11: 50,898,223 (GRCm39) C141* probably null Het
Or1j12 A T 2: 36,342,872 (GRCm39) I92F probably damaging Het
Or4k47 T C 2: 111,451,538 (GRCm39) M294V probably benign Het
Or8g2b A G 9: 39,750,753 (GRCm39) M8V probably benign Het
Orc6 T C 8: 86,029,590 (GRCm39) probably null Het
Otogl T G 10: 107,710,394 (GRCm39) E565A possibly damaging Het
Papss1 A G 3: 131,290,899 (GRCm39) Q214R probably benign Het
Pck2 G A 14: 55,786,169 (GRCm39) V653M probably benign Het
Plxna4 G A 6: 32,192,113 (GRCm39) Q826* probably null Het
Pms1 T A 1: 53,295,889 (GRCm39) T161S probably benign Het
Prkar2a C A 9: 108,617,669 (GRCm39) N242K probably damaging Het
Prss1 T A 6: 41,439,690 (GRCm39) I141N probably damaging Het
Puf60 A G 15: 75,943,717 (GRCm39) V235A probably damaging Het
Rapgef6 T A 11: 54,437,252 (GRCm39) F65Y probably benign Het
Rasgef1b T C 5: 99,447,898 (GRCm39) E104G unknown Het
Rcn3 T C 7: 44,734,333 (GRCm39) Y225C probably damaging Het
Rhot1 G C 11: 80,137,560 (GRCm39) W354S probably damaging Het
Rp1 T C 1: 4,417,513 (GRCm39) S1200G possibly damaging Het
Scaper T A 9: 55,745,460 (GRCm39) K603* probably null Het
Selenbp1 G A 3: 94,851,745 (GRCm39) V429I possibly damaging Het
Setd5 T G 6: 113,098,099 (GRCm39) S713A probably benign Het
Shank1 T C 7: 44,002,564 (GRCm39) Y1428H possibly damaging Het
Slc11a1 G T 1: 74,422,830 (GRCm39) W361L possibly damaging Het
Spta1 A T 1: 174,050,837 (GRCm39) D1772V possibly damaging Het
St8sia6 T C 2: 13,661,721 (GRCm39) H370R probably damaging Het
Stkld1 A T 2: 26,842,726 (GRCm39) D566V probably damaging Het
Tango6 T C 8: 107,415,791 (GRCm39) V204A probably benign Het
Tdrd5 G A 1: 156,129,293 (GRCm39) A139V probably damaging Het
Tenm2 A T 11: 36,062,263 (GRCm39) V534E probably damaging Het
Tfip11 A T 5: 112,479,044 (GRCm39) Q204L probably benign Het
Tlr4 A T 4: 66,759,430 (GRCm39) Q741L probably damaging Het
Tmem18 A G 12: 30,638,654 (GRCm39) M111V probably benign Het
Togaram1 A G 12: 65,042,292 (GRCm39) N1167S probably benign Het
Trappc3 C T 4: 126,168,945 (GRCm39) A145V possibly damaging Het
Trbj2-3 T C 6: 41,520,176 (GRCm39) F7S probably damaging Het
Vinac1 A G 2: 128,880,238 (GRCm39) S563P Het
Vmn1r212 T A 13: 23,067,731 (GRCm39) M201L probably benign Het
Xaf1 C A 11: 72,194,201 (GRCm39) C27* probably null Het
Zeb1 T C 18: 5,767,703 (GRCm39) V738A probably benign Het
Zfp524 A T 7: 5,020,883 (GRCm39) H137L probably damaging Het
Zfyve19 A T 2: 119,047,118 (GRCm39) H367L probably damaging Het
Zim1 G A 7: 6,680,872 (GRCm39) Q264* probably null 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
R3981:Bhlhe22 UTSW 3 18,109,058 (GRCm39) missense probably damaging 0.96
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
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'- TTAGTCGCCTACCTCAACCAAGG -3'
(R):5'- AAGGCTGAATGTCCGGTTTG -3'

Sequencing Primer
(F):5'- GGCAGCCTCTCTTCCCAG -3'
(R):5'- AATGTCCGGTTTGTCTCTGATAC -3'
Posted On 2019-06-26