Incidental Mutation 'R3819:Barx1'
ID 274833
Institutional Source Beutler Lab
Gene Symbol Barx1
Ensembl Gene ENSMUSG00000021381
Gene Name BarH-like homeobox 1
Synonyms
MMRRC Submission 040773-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3819 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 48816512-48819983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48818960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 200 (I200T)
Ref Sequence ENSEMBL: ENSMUSP00000021813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021813]
AlphaFold Q9ER42
Predicted Effect possibly damaging
Transcript: ENSMUST00000021813
AA Change: I200T

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021813
Gene: ENSMUSG00000021381
AA Change: I200T

DomainStartEndE-ValueType
low complexity region 38 54 N/A INTRINSIC
low complexity region 88 115 N/A INTRINSIC
HOX 142 204 9.05e-25 SMART
Meta Mutation Damage Score 0.1191 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (38/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation die around E13 embryonic stage with shrunken and malformed stomach or shortly after birth with cleft palate and abnormal tooth development depending on strain background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,936,024 (GRCm39) probably benign Het
Atp1b1 C T 1: 164,270,874 (GRCm39) R35H probably benign Het
Coil T C 11: 88,872,619 (GRCm39) F380L probably benign Het
Csmd1 C T 8: 16,052,522 (GRCm39) A2201T probably damaging Het
Dab2ip T C 2: 35,603,222 (GRCm39) C417R probably damaging Het
Dhx57 A G 17: 80,572,503 (GRCm39) probably null Het
Gabrg3 G A 7: 57,031,412 (GRCm39) Q43* probably null Het
Gbp7 C A 3: 142,249,826 (GRCm39) H432Q possibly damaging Het
Gjb2 A G 14: 57,337,530 (GRCm39) V226A probably benign Het
Gsdme A C 6: 50,196,391 (GRCm39) S340A probably benign Het
Hivep2 T C 10: 14,019,685 (GRCm39) V2152A possibly damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Krt34 T C 11: 99,930,844 (GRCm39) E186G probably damaging Het
Ly9 G T 1: 171,416,653 (GRCm39) T537N possibly damaging Het
Msantd4 A G 9: 4,385,237 (GRCm39) K321E probably damaging Het
Or5ac22 A G 16: 59,135,434 (GRCm39) F112S probably damaging Het
Or5p59 A G 7: 107,702,705 (GRCm39) Y63C possibly damaging Het
Or8b12c C T 9: 37,715,465 (GRCm39) S86L probably benign Het
Or8b40 A T 9: 38,027,922 (GRCm39) T277S possibly damaging Het
Or8b55 A G 9: 38,727,722 (GRCm39) K308E possibly damaging Het
Paxbp1 A C 16: 90,819,640 (GRCm39) probably benign Het
Plcl1 T A 1: 55,735,758 (GRCm39) D366E probably benign Het
Pramel22 T A 4: 143,382,365 (GRCm39) E110D probably benign Het
Prdm5 T C 6: 65,913,041 (GRCm39) F391L possibly damaging Het
Rasef C G 4: 73,677,942 (GRCm39) D95H probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Skint3 A T 4: 112,113,085 (GRCm39) I232F possibly damaging Het
Slc43a3 T C 2: 84,774,896 (GRCm39) I158T probably damaging Het
Smad1 G A 8: 80,070,359 (GRCm39) A393V probably benign Het
Sorl1 A G 9: 41,975,345 (GRCm39) L487P possibly damaging Het
Sspo A T 6: 48,458,037 (GRCm39) E3269V possibly damaging Het
Stat3 C T 11: 100,789,459 (GRCm39) S377N probably damaging Het
Tbpl2 A G 2: 23,966,024 (GRCm39) V321A probably damaging Het
Tnfrsf11a C T 1: 105,737,085 (GRCm39) T64I probably damaging Het
Ttn T C 2: 76,729,047 (GRCm39) probably benign Het
Wdr37 A G 13: 8,903,632 (GRCm39) probably benign Het
Xdh A T 17: 74,213,720 (GRCm39) I811K probably benign Het
Other mutations in Barx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0323:Barx1 UTSW 13 48,819,430 (GRCm39) missense probably benign
R3759:Barx1 UTSW 13 48,818,649 (GRCm39) missense probably damaging 1.00
R7263:Barx1 UTSW 13 48,818,555 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTACCTCTCTACCCCTGACAG -3'
(R):5'- CGGTGGAGGTTTAAAGAACTGC -3'

Sequencing Primer
(F):5'- TACCCCTGACAGGTAGTGC -3'
(R):5'- TTAGAAGCTGCCAGGAGGTGC -3'
Posted On 2015-04-02