Incidental Mutation 'R5314:Meis3'
ID 405740
Institutional Source Beutler Lab
Gene Symbol Meis3
Ensembl Gene ENSMUSG00000041420
Gene Name Meis homeobox 3
Synonyms Mrg2
MMRRC Submission 042897-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R5314 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 15909015-15920429 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15917989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 307 (V307E)
Ref Sequence ENSEMBL: ENSMUSP00000134918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002495] [ENSMUST00000176446] [ENSMUST00000176506] [ENSMUST00000177156]
AlphaFold P97368
Predicted Effect probably damaging
Transcript: ENSMUST00000002495
AA Change: V324E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002495
Gene: ENSMUSG00000041420
AA Change: V324E

DomainStartEndE-ValueType
low complexity region 88 101 N/A INTRINSIC
low complexity region 230 244 N/A INTRINSIC
HOX 265 330 9.15e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175946
Predicted Effect probably benign
Transcript: ENSMUST00000176446
Predicted Effect probably damaging
Transcript: ENSMUST00000176506
AA Change: V307E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134918
Gene: ENSMUSG00000041420
AA Change: V307E

DomainStartEndE-ValueType
low complexity region 88 101 N/A INTRINSIC
low complexity region 213 227 N/A INTRINSIC
HOX 248 313 9.15e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176714
Predicted Effect probably benign
Transcript: ENSMUST00000177156
SMART Domains Protein: ENSMUSP00000135103
Gene: ENSMUSG00000041420

DomainStartEndE-ValueType
low complexity region 88 101 N/A INTRINSIC
low complexity region 230 244 N/A INTRINSIC
Pfam:Homeobox_KN 283 313 2e-12 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoding this gene belongs to the three amino acid loop extension family of homeodomain transcription factors, which play essential roles in many embryonic processes. These proteins are characterized by an atypical homeodomain containing a three amino acid loop extension between helices 1 and 2. Expression of this gene begins during the compaction stage of embryogenesis and continues into the blastocyst stage. This gene is also expressed in pancreatic islet cells and beta-cells and regulates beta-cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik T C 3: 121,473,172 (GRCm39) F109S unknown Het
Ankhd1 A T 18: 36,694,111 (GRCm39) probably null Het
Atp8a1 C T 5: 67,863,248 (GRCm39) probably null Het
Ccdc136 G T 6: 29,417,497 (GRCm39) V707F probably benign Het
Ccdc157 A T 11: 4,100,078 (GRCm39) C91* probably null Het
Ceacam3 T A 7: 16,892,296 (GRCm39) N346K possibly damaging Het
Cfap251 A G 5: 123,460,626 (GRCm39) D1196G probably benign Het
Chd4 A G 6: 125,077,551 (GRCm39) E74G probably damaging Het
Cntn1 A G 15: 92,192,892 (GRCm39) M665V probably benign Het
Crtc2 C T 3: 90,168,348 (GRCm39) Q364* probably null Het
Csf1r T A 18: 61,262,796 (GRCm39) I857N probably damaging Het
Dner C T 1: 84,558,460 (GRCm39) G168D probably damaging Het
Edar T C 10: 58,443,182 (GRCm39) T315A probably benign Het
Egflam A G 15: 7,333,493 (GRCm39) V153A probably damaging Het
Enoph1 T C 5: 100,211,682 (GRCm39) I193T possibly damaging Het
Epc1 A G 18: 6,462,969 (GRCm39) I9T probably damaging Het
Fbxw18 T A 9: 109,522,246 (GRCm39) I208F possibly damaging Het
Gm4841 A G 18: 60,403,364 (GRCm39) V243A probably benign Het
Herc2 T C 7: 55,869,534 (GRCm39) V4297A probably damaging Het
Itsn2 C T 12: 4,677,960 (GRCm39) P106S probably benign Het
Kcnu1 A G 8: 26,352,486 (GRCm39) T218A probably damaging Het
Kif1a A G 1: 92,946,220 (GRCm39) S1677P probably damaging Het
Krt14 A T 11: 100,095,526 (GRCm39) M293K probably damaging Het
Nadk2 A C 15: 9,108,401 (GRCm39) I417L probably benign Het
Nav2 AAGCAGCAGCAGCAGCAGCAGCAGCA AAGCAGCAGCAGCAGCAGCAGCA 7: 49,058,440 (GRCm39) probably benign Het
Neb A T 2: 52,171,515 (GRCm39) N1659K probably benign Het
Nhsl3 T C 4: 129,118,005 (GRCm39) T208A possibly damaging Het
Or10w1 T C 19: 13,632,630 (GRCm39) V274A probably benign Het
Or8g32 T C 9: 39,305,785 (GRCm39) S233P probably damaging Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Pde3b A T 7: 114,093,772 (GRCm39) N339Y probably damaging Het
Pde8b A G 13: 95,223,361 (GRCm39) F298L possibly damaging Het
Phtf1 G A 3: 103,906,603 (GRCm39) R606H probably damaging Het
Psd4 A G 2: 24,290,528 (GRCm39) D535G possibly damaging Het
Rad51ap1 A G 6: 126,905,121 (GRCm39) V130A probably damaging Het
Rbm11 T C 16: 75,393,474 (GRCm39) F57L probably damaging Het
Rprd2 A G 3: 95,671,401 (GRCm39) V1334A possibly damaging Het
Satb2 T C 1: 56,870,686 (GRCm39) E433G probably damaging Het
Sema6b G A 17: 56,435,413 (GRCm39) R277* probably null Het
Sepsecs A T 5: 52,805,015 (GRCm39) S349T probably benign Het
Slc35b2 T C 17: 45,877,424 (GRCm39) Y184H probably damaging Het
Slc7a2 T C 8: 41,368,067 (GRCm39) probably null Het
Smc1b T A 15: 84,955,066 (GRCm39) Y1062F probably benign Het
Snrnp70 G A 7: 45,026,476 (GRCm39) R298* probably null Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Taar8c A T 10: 23,977,246 (GRCm39) C189S probably damaging Het
Tas1r2 T A 4: 139,382,672 (GRCm39) D103E probably damaging Het
Timd2 T C 11: 46,568,087 (GRCm39) I236V probably benign Het
Tmem87a A G 2: 120,208,407 (GRCm39) V316A probably damaging Het
Treml2 T A 17: 48,607,601 (GRCm39) L16Q probably damaging Het
Zcchc14 G A 8: 122,335,337 (GRCm39) probably benign Het
Zfp462 T C 4: 55,013,178 (GRCm39) Y567H probably damaging Het
Zfp551 G A 7: 12,150,087 (GRCm39) R441* probably null Het
Zfp930 A G 8: 69,679,373 (GRCm39) I59M probably benign Het
Other mutations in Meis3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Meis3 APN 7 15,912,872 (GRCm39) critical splice acceptor site probably benign 0.00
IGL02508:Meis3 APN 7 15,912,722 (GRCm39) splice site probably null
IGL03125:Meis3 APN 7 15,912,695 (GRCm39) missense probably damaging 1.00
IGL03383:Meis3 APN 7 15,917,744 (GRCm39) missense probably damaging 1.00
R0032:Meis3 UTSW 7 15,916,210 (GRCm39) unclassified probably benign
R1147:Meis3 UTSW 7 15,917,701 (GRCm39) unclassified probably benign
R1471:Meis3 UTSW 7 15,911,496 (GRCm39) nonsense probably null
R3054:Meis3 UTSW 7 15,916,378 (GRCm39) missense probably damaging 1.00
R3927:Meis3 UTSW 7 15,911,419 (GRCm39) missense probably benign 0.06
R6713:Meis3 UTSW 7 15,916,255 (GRCm39) nonsense probably null
R6847:Meis3 UTSW 7 15,917,789 (GRCm39) missense probably damaging 1.00
R7218:Meis3 UTSW 7 15,918,626 (GRCm39) missense probably benign
R7517:Meis3 UTSW 7 15,911,743 (GRCm39) missense probably damaging 1.00
R7540:Meis3 UTSW 7 15,911,418 (GRCm39) nonsense probably null
R7699:Meis3 UTSW 7 15,911,481 (GRCm39) missense probably benign
R7700:Meis3 UTSW 7 15,911,481 (GRCm39) missense probably benign
R7790:Meis3 UTSW 7 15,916,322 (GRCm39) missense probably benign 0.37
R8902:Meis3 UTSW 7 15,911,887 (GRCm39) missense probably benign 0.17
R8909:Meis3 UTSW 7 15,919,385 (GRCm39) missense possibly damaging 0.83
R9095:Meis3 UTSW 7 15,917,764 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAACTGGTGAGTGATTGGG -3'
(R):5'- ATTAAAATTTGGGCGGGCG -3'

Sequencing Primer
(F):5'- ATTGGGCTGGGTGCTGTCC -3'
(R):5'- CGAGCTCATGGAAGGGAGTC -3'
Posted On 2016-07-22