Incidental Mutation 'R7064:Dmbx1'
ID 548437
Institutional Source Beutler Lab
Gene Symbol Dmbx1
Ensembl Gene ENSMUSG00000028707
Gene Name diencephalon/mesencephalon homeobox 1
Synonyms Mbx, Cdmx, Atx, Otx3, Dmbx1
MMRRC Submission 045160-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.848) question?
Stock # R7064 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 115772316-115797123 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115775465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 272 (N272D)
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: N272D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134457
Gene: ENSMUSG00000028707
AA Change: N272D

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: N277D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081366
Gene: ENSMUSG00000028707
AA Change: N277D

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: N272D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120320
Gene: ENSMUSG00000028707
AA Change: N272D

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T C 8: 60,984,746 (GRCm39) I263T probably damaging Het
Adamtsl1 C T 4: 86,260,278 (GRCm39) P830S possibly damaging Het
Adrb1 T C 19: 56,711,456 (GRCm39) F218S probably damaging Het
Ahnak2 T C 12: 112,746,919 (GRCm39) probably benign Het
Arsj T A 3: 126,231,986 (GRCm39) V244E probably damaging Het
Atm T C 9: 53,419,181 (GRCm39) E757G probably benign Het
AU040320 A G 4: 126,685,865 (GRCm39) D147G probably benign Het
Btnl10 A T 11: 58,810,134 (GRCm39) M92L possibly damaging Het
Chd6 T C 2: 160,791,983 (GRCm39) D2458G probably damaging Het
Cntn3 T C 6: 102,250,772 (GRCm39) I259V probably damaging Het
Ctns A G 11: 73,077,218 (GRCm39) V250A probably benign Het
Cxxc1 T A 18: 74,353,678 (GRCm39) probably null Het
Cyp2a4 A T 7: 26,011,732 (GRCm39) M318L probably benign Het
Dchs1 A G 7: 105,412,392 (GRCm39) L1302P probably damaging Het
Decr1 C A 4: 15,945,392 (GRCm39) Het
Dsel C A 1: 111,790,577 (GRCm39) probably benign Het
Dspp A C 5: 104,324,804 (GRCm39) D389A possibly damaging Het
Ero1a T C 14: 45,544,049 (GRCm39) T52A probably damaging Het
Fam186a T C 15: 99,839,557 (GRCm39) E2229G unknown Het
Gabrd C T 4: 155,472,803 (GRCm39) V127M probably damaging Het
Gpc2 A T 5: 138,277,172 (GRCm39) F85Y probably damaging Het
Gucy2g A G 19: 55,198,764 (GRCm39) L793S probably benign Het
Irag1 C G 7: 110,495,061 (GRCm39) E455Q probably damaging Het
Itpr3 G C 17: 27,308,269 (GRCm39) G298R probably damaging Het
Kalrn A T 16: 34,038,261 (GRCm39) C1024S probably damaging Het
Krt40 T C 11: 99,430,954 (GRCm39) Y185C probably benign Het
Lmo7 G A 14: 102,121,615 (GRCm39) D227N probably damaging Het
Mmrn1 T A 6: 60,965,524 (GRCm39) L1184* probably null Het
Or10s1 T A 9: 39,986,109 (GRCm39) Y173N probably damaging Het
Or14j2 T A 17: 37,885,634 (GRCm39) R227W probably damaging Het
Or4c15 T A 2: 88,759,853 (GRCm39) M269L probably benign Het
Parp9 T G 16: 35,774,042 (GRCm39) V338G probably benign Het
Pcdh15 G A 10: 74,466,446 (GRCm39) E888K possibly damaging Het
Pcdh9 C T 14: 94,123,585 (GRCm39) E862K probably damaging Het
Prkdc A G 16: 15,608,317 (GRCm39) T3040A probably benign Het
Qser1 T C 2: 104,617,464 (GRCm39) E1026G probably damaging Het
Rnf20 C T 4: 49,644,580 (GRCm39) R282* probably null Het
Rpgrip1l T A 8: 91,990,148 (GRCm39) K765* probably null Het
Rprd2 G A 3: 95,672,328 (GRCm39) T1025M probably damaging Het
Scn4a A G 11: 106,212,983 (GRCm39) Y1341H possibly damaging Het
Scn5a C G 9: 119,318,977 (GRCm39) D1554H probably damaging Het
Septin14 T C 5: 129,774,870 (GRCm39) I102V probably benign Het
Septin4 A G 11: 87,481,193 (GRCm39) T378A probably benign Het
Siglec1 C T 2: 130,925,834 (GRCm39) G291R probably benign Het
Sik2 A G 9: 50,818,720 (GRCm39) V418A probably damaging Het
Slc9a5 A G 8: 106,076,078 (GRCm39) T24A possibly damaging Het
Spata31d1b T C 13: 59,863,955 (GRCm39) S368P probably benign Het
Stip1 T C 19: 7,012,925 (GRCm39) D53G probably benign Het
Stk36 T C 1: 74,649,979 (GRCm39) W245R probably damaging Het
Stk39 A T 2: 68,189,156 (GRCm39) probably null Het
Tacr2 T C 10: 62,097,276 (GRCm39) M252T probably damaging Het
Tasor C T 14: 27,194,288 (GRCm39) P1163S probably benign Het
Terb1 A T 8: 105,215,186 (GRCm39) N263K probably benign Het
Tgm5 T C 2: 120,883,995 (GRCm39) M333V probably benign Het
Tmem45a T C 16: 56,642,767 (GRCm39) M135V probably benign Het
Trmt13 T A 3: 116,376,346 (GRCm39) K348N probably damaging Het
Trmt2a A T 16: 18,070,868 (GRCm39) M534L probably damaging Het
Ttll13 G A 7: 79,906,778 (GRCm39) R513K probably null Het
Vmn1r228 T A 17: 20,997,285 (GRCm39) I78L probably benign Het
Washc3 T C 10: 88,081,635 (GRCm39) V173A possibly damaging Het
Zc2hc1b A T 10: 13,047,049 (GRCm39) C21S probably damaging Het
Zfp944 T A 17: 22,558,560 (GRCm39) H229L probably damaging Het
Zfp985 T A 4: 147,667,573 (GRCm39) I147N probably benign 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
R2567:Dmbx1 UTSW 4 115,777,489 (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
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'- TTTTACTGTTCAGGGCAGCG -3'
(R):5'- AGCCTAGTTCTCTTGTTCTGAG -3'

Sequencing Primer
(F):5'- CAGGTGCCAGGCCTGTG -3'
(R):5'- CCTAGTTCTCTTGTTCTGAGTACTTG -3'
Posted On 2019-05-13