Incidental Mutation 'R6708:Emx1'
ID 529011
Institutional Source Beutler Lab
Gene Symbol Emx1
Ensembl Gene ENSMUSG00000033726
Gene Name empty spiracles homeobox 1
Synonyms
MMRRC Submission 044826-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6708 (G1)
Quality Score 136.008
Status Not validated
Chromosome 6
Chromosomal Location 85164913-85181445 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85171122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 175 (E175G)
Ref Sequence ENSEMBL: ENSMUSP00000046026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045942]
AlphaFold Q04742
Predicted Effect probably damaging
Transcript: ENSMUST00000045942
AA Change: E175G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046026
Gene: ENSMUSG00000033726
AA Change: E175G

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
low complexity region 68 75 N/A INTRINSIC
HOX 159 221 9.33e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173919
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice with this mutation are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 T C 8: 41,249,531 (GRCm39) L547P probably damaging Het
Atp8b5 T G 4: 43,334,249 (GRCm39) H338Q probably benign Het
Btbd3 A G 2: 138,125,491 (GRCm39) E225G possibly damaging Het
Cd163 A G 6: 124,286,167 (GRCm39) H239R probably damaging Het
Cdh15 T C 8: 123,590,294 (GRCm39) I409T probably benign Het
Cep55 T A 19: 38,048,709 (GRCm39) S122T probably benign Het
Col5a3 G A 9: 20,686,331 (GRCm39) P1382L unknown Het
Ehmt2 A T 17: 35,118,875 (GRCm39) K186* probably null Het
Elavl2 A T 4: 91,141,634 (GRCm39) I295N probably damaging Het
Elf5 A G 2: 103,279,334 (GRCm39) D185G probably damaging Het
Fan1 T G 7: 64,022,554 (GRCm39) N233T probably benign Het
Frem2 T A 3: 53,492,922 (GRCm39) I1865F probably benign Het
Kcnu1 A G 8: 26,427,739 (GRCm39) D352G probably benign Het
Klhdc1 A T 12: 69,306,304 (GRCm39) H247L possibly damaging Het
L3mbtl4 A T 17: 68,937,253 (GRCm39) T425S probably benign Het
Mrpl21 T C 19: 3,336,890 (GRCm39) V87A probably damaging Het
Or4d11 A T 19: 12,014,103 (GRCm39) M1K probably null Het
Or5ac21 T A 16: 59,124,416 (GRCm39) L301Q probably damaging Het
Or6c215 G T 10: 129,637,689 (GRCm39) A235D probably damaging Het
Orc4 A T 2: 48,827,505 (GRCm39) H29Q probably benign Het
Pcnx2 C T 8: 126,587,692 (GRCm39) probably null Het
Pogk A G 1: 166,231,078 (GRCm39) V83A probably damaging Het
Synm T C 7: 67,382,994 (GRCm39) E1556G possibly damaging Het
Tmem109 C A 19: 10,849,395 (GRCm39) L153F probably damaging Het
Ttc8 A G 12: 98,909,791 (GRCm39) T74A probably damaging Het
Zfp180 A T 7: 23,805,521 (GRCm39) T647S probably damaging Het
Other mutations in Emx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02891:Emx1 APN 6 85,181,067 (GRCm39) utr 3 prime probably benign
R0943:Emx1 UTSW 6 85,180,901 (GRCm39) nonsense probably null
R1173:Emx1 UTSW 6 85,165,353 (GRCm39) splice site probably benign
R1959:Emx1 UTSW 6 85,180,916 (GRCm39) missense probably damaging 1.00
R2483:Emx1 UTSW 6 85,165,237 (GRCm39) missense probably benign
R2511:Emx1 UTSW 6 85,181,033 (GRCm39) missense probably benign 0.03
R5012:Emx1 UTSW 6 85,180,955 (GRCm39) missense probably benign 0.14
R7170:Emx1 UTSW 6 85,164,983 (GRCm39) missense probably benign 0.32
R8315:Emx1 UTSW 6 85,171,088 (GRCm39) missense possibly damaging 0.90
R9458:Emx1 UTSW 6 85,181,042 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGAGTGGATTCTGCTCCTCG -3'
(R):5'- AACGAGGTGGCTTTTGGAACC -3'

Sequencing Primer
(F):5'- TTTCAGGGCAGCCACAAG -3'
(R):5'- TGGCTTTTGGAACCCGAAG -3'
Posted On 2018-07-24