Incidental Mutation 'R2567:Dmbx1'
ID 254536
Institutional Source Beutler Lab
Gene Symbol Dmbx1
Ensembl Gene ENSMUSG00000028707
Gene Name diencephalon/mesencephalon homeobox 1
Synonyms Mbx, Cdmx, Atx, Otx3, Dmbx1
MMRRC Submission 040426-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.848) question?
Stock # R2567 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 115772316-115797123 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115777489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 120 (K120E)
Ref Sequence ENSEMBL: ENSMUSP00000120320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064806] [ENSMUST00000084338] [ENSMUST00000124071]
AlphaFold Q91ZK4
Predicted Effect probably damaging
Transcript: ENSMUST00000064806
AA Change: K120E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134457
Gene: ENSMUSG00000028707
AA Change: K120E

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
HOX 66 128 6.07e-26 SMART
low complexity region 172 187 N/A INTRINSIC
low complexity region 235 256 N/A INTRINSIC
low complexity region 284 295 N/A INTRINSIC
low complexity region 330 348 N/A INTRINSIC
Pfam:OAR 349 368 9.2e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000084338
AA Change: K125E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081366
Gene: ENSMUSG00000028707
AA Change: K125E

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
HOX 71 133 6.07e-26 SMART
low complexity region 177 192 N/A INTRINSIC
low complexity region 240 261 N/A INTRINSIC
low complexity region 289 300 N/A INTRINSIC
low complexity region 335 353 N/A INTRINSIC
Pfam:OAR 355 372 3e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124071
AA Change: K120E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120320
Gene: ENSMUSG00000028707
AA Change: K120E

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
HOX 66 128 6.07e-26 SMART
low complexity region 172 187 N/A INTRINSIC
low complexity region 235 256 N/A INTRINSIC
low complexity region 284 295 N/A INTRINSIC
low complexity region 330 348 N/A INTRINSIC
Pfam:OAR 349 368 9.2e-9 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
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 bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one null allele display partial postnatal lethality, impaired suckling and postnatal growth, and reduced female fertility. When raised in isolation, mice homozygous for another null allele exhibit decreased body weight, decreased food consumption, and small adipocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,836,475 (GRCm39) probably benign Het
Aebp1 A G 11: 5,820,251 (GRCm39) D409G probably benign Het
Akap10 A G 11: 61,784,175 (GRCm39) probably benign Het
Akap6 G T 12: 52,985,156 (GRCm39) S863I probably damaging Het
Ap1s3 T C 1: 79,602,921 (GRCm39) K29E possibly damaging Het
Atm T A 9: 53,368,770 (GRCm39) I2341L possibly damaging Het
Atp12a A T 14: 56,624,384 (GRCm39) D944V probably damaging Het
Baz2b A T 2: 59,744,255 (GRCm39) S1417T possibly damaging Het
Cacna1a T A 8: 85,276,354 (GRCm39) M613K probably damaging Het
Ccdc191 A C 16: 43,764,330 (GRCm39) probably null Het
Cd209d T A 8: 3,926,327 (GRCm39) N96I probably damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cdk4 T G 10: 126,900,145 (GRCm39) V14G probably benign Het
Chrna10 C A 7: 101,761,276 (GRCm39) M438I probably benign Het
Clec10a T C 11: 70,060,358 (GRCm39) probably null Het
Cog3 A G 14: 75,991,730 (GRCm39) V40A probably benign Het
Creb3l3 T C 10: 80,921,883 (GRCm39) H315R probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cubn A G 2: 13,283,167 (GRCm39) probably null Het
Cygb T C 11: 116,540,692 (GRCm39) D98G probably damaging Het
Dnah3 T A 7: 119,551,920 (GRCm39) I2800F possibly damaging Het
Dntt G T 19: 41,029,775 (GRCm39) R245L possibly damaging Het
Dock1 T G 7: 134,747,213 (GRCm39) V1508G probably damaging Het
Enpp4 A C 17: 44,412,736 (GRCm39) I266R probably damaging Het
Fhl4 T C 10: 84,934,644 (GRCm39) I46V possibly damaging Het
Fn1 G A 1: 71,636,895 (GRCm39) Q1995* probably null Het
Foxl3 A G 5: 138,805,940 (GRCm39) S36G probably null Het
Foxo1 T A 3: 52,176,755 (GRCm39) L178H probably damaging Het
Galnt18 C T 7: 111,153,823 (GRCm39) R267H probably damaging Het
Gm1110 T C 9: 26,831,992 (GRCm39) D53G probably benign Het
Gm7104 A T 12: 88,252,242 (GRCm39) noncoding transcript Het
H2-M11 C T 17: 36,859,042 (GRCm39) T194I possibly damaging Het
Haus6 C A 4: 86,504,122 (GRCm39) E501* probably null Het
Ifna5 T C 4: 88,754,147 (GRCm39) V129A probably benign Het
Kdelr3 A G 15: 79,407,032 (GRCm39) I38V probably benign Het
Lamb1 A G 12: 31,319,054 (GRCm39) probably null Het
Larp7-ps T C 4: 92,079,560 (GRCm39) E87G probably benign Het
Mgat4c T A 10: 102,214,123 (GRCm39) F35L probably benign Het
Mmab A T 5: 114,571,378 (GRCm39) M166K probably benign Het
Mrpl2 A G 17: 46,958,427 (GRCm39) T70A probably benign Het
Naa11 C T 5: 97,539,618 (GRCm39) G180D probably benign Het
Npy6r T C 18: 44,408,888 (GRCm39) V103A possibly damaging Het
Nup188 A T 2: 30,231,794 (GRCm39) R1463W possibly damaging Het
Nusap1 T A 2: 119,474,311 (GRCm39) S336R possibly damaging Het
Or8b12c T A 9: 37,715,509 (GRCm39) F101I probably damaging Het
Pabpc4 T A 4: 123,191,744 (GRCm39) L589Q probably damaging Het
Pcdh12 T A 18: 38,415,149 (GRCm39) N659Y probably damaging Het
Perm1 T C 4: 156,301,575 (GRCm39) S40P probably damaging Het
Phldb1 T C 9: 44,637,322 (GRCm39) T114A probably damaging Het
Pirt C T 11: 66,816,985 (GRCm39) L99F probably damaging Het
Plxdc2 A G 2: 16,716,995 (GRCm39) R360G probably benign Het
Rhpn2 G A 7: 35,080,957 (GRCm39) probably null Het
Rpusd2 T A 2: 118,867,556 (GRCm39) I268N probably damaging Het
Sds G T 5: 120,619,646 (GRCm39) W185L probably damaging Het
Serpinb5 A G 1: 106,802,876 (GRCm39) K137R probably benign Het
Sh3pxd2a A G 19: 47,413,008 (GRCm39) V25A possibly damaging Het
Slc1a2 C T 2: 102,597,355 (GRCm39) T454I probably damaging Het
Slc25a40 T C 5: 8,480,459 (GRCm39) C70R probably damaging Het
Smoc1 G A 12: 81,214,364 (GRCm39) E260K probably damaging Het
Sparcl1 A T 5: 104,232,954 (GRCm39) F616I probably damaging Het
Ssc5d A T 7: 4,939,334 (GRCm39) D590V probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpm2 C T 10: 77,777,008 (GRCm39) V430M probably damaging Het
Ttn T C 2: 76,574,672 (GRCm39) D25407G probably damaging Het
Vmn2r68 T C 7: 84,883,803 (GRCm39) I101V probably benign Het
Xrcc4 A T 13: 90,210,261 (GRCm39) M61K probably damaging Het
Zfp648 A G 1: 154,080,695 (GRCm39) T285A probably damaging Het
Other mutations in Dmbx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Dmbx1 APN 4 115,777,203 (GRCm39) missense probably benign 0.00
IGL02850:Dmbx1 APN 4 115,775,204 (GRCm39) missense probably damaging 1.00
R0014:Dmbx1 UTSW 4 115,775,221 (GRCm39) missense probably damaging 0.99
R0014:Dmbx1 UTSW 4 115,775,221 (GRCm39) missense probably damaging 0.99
R0267:Dmbx1 UTSW 4 115,775,309 (GRCm39) missense probably benign 0.41
R1164:Dmbx1 UTSW 4 115,775,455 (GRCm39) missense probably damaging 1.00
R3419:Dmbx1 UTSW 4 115,777,873 (GRCm39) missense probably benign 0.21
R5383:Dmbx1 UTSW 4 115,775,342 (GRCm39) missense probably damaging 1.00
R5882:Dmbx1 UTSW 4 115,777,498 (GRCm39) missense probably damaging 1.00
R5999:Dmbx1 UTSW 4 115,775,373 (GRCm39) missense probably damaging 0.98
R7064:Dmbx1 UTSW 4 115,775,465 (GRCm39) missense probably damaging 1.00
R7483:Dmbx1 UTSW 4 115,780,908 (GRCm39) missense probably damaging 1.00
R7829:Dmbx1 UTSW 4 115,781,104 (GRCm39) intron probably benign
R8548:Dmbx1 UTSW 4 115,777,512 (GRCm39) missense probably damaging 1.00
R9441:Dmbx1 UTSW 4 115,780,884 (GRCm39) missense probably damaging 1.00
R9744:Dmbx1 UTSW 4 115,777,262 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGCTCAGTTGAAGTTCAGC -3'
(R):5'- TCCCAACTGTATCTTGCAGATAGG -3'

Sequencing Primer
(F):5'- TTCAGCAGGAGGATCACCACTG -3'
(R):5'- ATCTTGCAGATAGGTGCTAGCCATC -3'
Posted On 2014-12-04