Incidental Mutation 'R5506:Meis1'
ID 430932
Institutional Source Beutler Lab
Gene Symbol Meis1
Ensembl Gene ENSMUSG00000020160
Gene Name Meis homeobox 1
Synonyms C530044H18Rik
MMRRC Submission 043067-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5506 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 18830428-18968992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 18891747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 267 (D267A)
Ref Sequence ENSEMBL: ENSMUSP00000135726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068264] [ENSMUST00000102878] [ENSMUST00000144988] [ENSMUST00000177417] [ENSMUST00000185131]
AlphaFold Q60954
Predicted Effect probably benign
Transcript: ENSMUST00000068264
AA Change: D267A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000069277
Gene: ENSMUSG00000020160
AA Change: D267A

DomainStartEndE-ValueType
low complexity region 225 241 N/A INTRINSIC
HOX 272 337 1.05e-11 SMART
low complexity region 372 385 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102878
AA Change: D267A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099942
Gene: ENSMUSG00000020160
AA Change: D267A

DomainStartEndE-ValueType
internal_repeat_1 12 59 8.66e-5 PROSPERO
Pfam:Meis_PKNOX_N 108 192 5.5e-48 PFAM
low complexity region 225 241 N/A INTRINSIC
HOX 272 337 1.05e-11 SMART
internal_repeat_1 384 428 8.66e-5 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118661
SMART Domains Protein: ENSMUSP00000112809
Gene: ENSMUSG00000020160

DomainStartEndE-ValueType
low complexity region 45 61 N/A INTRINSIC
HOX 92 157 5.3e-14 SMART
low complexity region 192 205 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000144988
AA Change: D267A

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134969
Gene: ENSMUSG00000020160
AA Change: D267A

DomainStartEndE-ValueType
low complexity region 225 241 N/A INTRINSIC
HOX 272 337 1.05e-11 SMART
low complexity region 358 369 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177357
Predicted Effect possibly damaging
Transcript: ENSMUST00000177417
AA Change: D267A

PolyPhen 2 Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135726
Gene: ENSMUSG00000020160
AA Change: D267A

DomainStartEndE-ValueType
low complexity region 225 241 N/A INTRINSIC
HOX 272 337 1.05e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185131
AA Change: D267A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139219
Gene: ENSMUSG00000020160
AA Change: D267A

DomainStartEndE-ValueType
internal_repeat_1 12 59 8.66e-5 PROSPERO
low complexity region 225 241 N/A INTRINSIC
HOX 272 337 1.05e-11 SMART
internal_repeat_1 384 428 8.66e-5 PROSPERO
Meta Mutation Damage Score 0.0727 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.4%
Validation Efficiency 100% (53/53)
MGI Phenotype PHENOTYPE: Homozygous mutant mice die during gestation and exhibit eye, vasculature, and hematopoietic defects. Mice homozygous for a conditional allele activated in HSCs exhibit altered bone marrow cell development, altered HSC physiology and increased reactive oxygen species production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,773,708 (GRCm39) G966W probably damaging Het
A930009A15Rik G T 10: 115,414,267 (GRCm39) probably null Het
Cant1 G T 11: 118,302,268 (GRCm39) H16Q probably benign Het
Capn3 G T 2: 120,332,901 (GRCm39) V612F probably damaging Het
Cep112 A T 11: 108,555,429 (GRCm39) E141D probably damaging Het
Cept1 A G 3: 106,438,564 (GRCm39) V173A probably benign Het
CN725425 A G 15: 91,120,029 (GRCm39) D50G possibly damaging Het
Cubn A T 2: 13,496,506 (GRCm39) probably null Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dpp8 A G 9: 64,985,391 (GRCm39) probably null Het
Ecm1 G A 3: 95,643,169 (GRCm39) T377I probably benign Het
Exosc8 A G 3: 54,638,600 (GRCm39) probably benign Het
Fasn C T 11: 120,700,336 (GRCm39) D2165N probably benign Het
Gab2 A G 7: 96,952,320 (GRCm39) E571G probably damaging Het
Galnt5 C A 2: 57,889,637 (GRCm39) H412Q probably benign Het
Galr1 T A 18: 82,423,989 (GRCm39) Y96F possibly damaging Het
Garin1b G A 6: 29,319,297 (GRCm39) E34K probably damaging Het
Gnl2 C A 4: 124,949,158 (GRCm39) probably benign Het
H2ac22 A C 13: 21,971,081 (GRCm39) I103S probably damaging Het
H2ax T C 9: 44,246,402 (GRCm39) V115A probably benign Het
Heatr9 T C 11: 83,405,592 (GRCm39) N317S possibly damaging Het
Kndc1 A G 7: 139,507,804 (GRCm39) Y1254C probably damaging Het
Lrp6 A T 6: 134,436,259 (GRCm39) D1302E probably benign Het
Mc2r A T 18: 68,541,019 (GRCm39) Y91* probably null Het
Mki67 T C 7: 135,301,710 (GRCm39) K1108R possibly damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Myh3 T G 11: 66,974,915 (GRCm39) D219E probably damaging Het
Niban2 G A 2: 32,810,994 (GRCm39) V335M probably damaging Het
Or10g1b T C 14: 52,628,084 (GRCm39) I49V probably damaging Het
Or7e166 T C 9: 19,624,570 (GRCm39) L149P possibly damaging Het
Pi4ka A G 16: 17,111,817 (GRCm39) C1553R probably damaging Het
Plekhb1 C A 7: 100,294,150 (GRCm39) probably null Het
Polr3d A T 14: 70,678,199 (GRCm39) D165E possibly damaging Het
Prb1c T C 6: 132,338,819 (GRCm39) N133S unknown Het
Psmb1 A G 17: 15,710,478 (GRCm39) Y24H probably damaging Het
Rab11fip5 A G 6: 85,351,119 (GRCm39) L131P probably damaging Het
Raph1 A T 1: 60,532,657 (GRCm39) probably benign Het
Rmc1 A G 18: 12,322,013 (GRCm39) probably benign Het
Scgb2b27 T G 7: 33,711,484 (GRCm39) probably benign Het
Serpina10 T C 12: 103,592,920 (GRCm39) D264G probably damaging Het
Sftpb A G 6: 72,281,651 (GRCm39) T15A possibly damaging Het
Slc20a1 T C 2: 129,052,739 (GRCm39) F674L probably benign Het
Syne2 A T 12: 75,985,495 (GRCm39) N1648Y probably benign Het
Thsd7a G T 6: 12,332,016 (GRCm39) N1265K possibly damaging Het
Trem2 T C 17: 48,658,802 (GRCm39) L189P probably benign Het
Washc4 A T 10: 83,417,201 (GRCm39) R865S probably damaging Het
Zfp536 A G 7: 37,268,217 (GRCm39) S400P probably damaging Het
Other mutations in Meis1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01927:Meis1 APN 11 18,831,811 (GRCm39) missense probably benign 0.25
IGL02156:Meis1 APN 11 18,961,292 (GRCm39) missense probably benign 0.03
IGL02376:Meis1 APN 11 18,831,752 (GRCm39) missense probably benign 0.06
R0505:Meis1 UTSW 11 18,961,360 (GRCm39) missense probably damaging 0.99
R0833:Meis1 UTSW 11 18,831,767 (GRCm39) missense possibly damaging 0.91
R1477:Meis1 UTSW 11 18,831,665 (GRCm39) nonsense probably null
R1512:Meis1 UTSW 11 18,831,682 (GRCm39) missense probably damaging 0.97
R1643:Meis1 UTSW 11 18,966,278 (GRCm39) missense probably benign 0.00
R1717:Meis1 UTSW 11 18,960,608 (GRCm39) intron probably benign
R2117:Meis1 UTSW 11 18,831,679 (GRCm39) missense probably damaging 1.00
R2342:Meis1 UTSW 11 18,831,647 (GRCm39) missense probably damaging 1.00
R2426:Meis1 UTSW 11 18,938,356 (GRCm39) missense possibly damaging 0.64
R3076:Meis1 UTSW 11 18,961,254 (GRCm39) missense probably benign 0.01
R3078:Meis1 UTSW 11 18,961,254 (GRCm39) missense probably benign 0.01
R4368:Meis1 UTSW 11 18,960,656 (GRCm39) intron probably benign
R4915:Meis1 UTSW 11 18,959,222 (GRCm39) intron probably benign
R4916:Meis1 UTSW 11 18,831,776 (GRCm39) missense possibly damaging 0.91
R4917:Meis1 UTSW 11 18,959,222 (GRCm39) intron probably benign
R4918:Meis1 UTSW 11 18,959,222 (GRCm39) intron probably benign
R4948:Meis1 UTSW 11 18,966,308 (GRCm39) missense probably benign 0.00
R5093:Meis1 UTSW 11 18,831,785 (GRCm39) missense probably benign 0.13
R5507:Meis1 UTSW 11 18,966,168 (GRCm39) missense probably benign 0.27
R5521:Meis1 UTSW 11 18,938,260 (GRCm39) splice site probably benign
R5673:Meis1 UTSW 11 18,962,812 (GRCm39) missense probably damaging 1.00
R5813:Meis1 UTSW 11 18,966,229 (GRCm39) missense probably benign 0.11
R6347:Meis1 UTSW 11 18,855,631 (GRCm39) splice site probably null
R6354:Meis1 UTSW 11 18,966,184 (GRCm39) missense possibly damaging 0.89
R6383:Meis1 UTSW 11 18,891,741 (GRCm39) missense probably benign
R6624:Meis1 UTSW 11 18,966,215 (GRCm39) missense probably benign
R7292:Meis1 UTSW 11 18,961,351 (GRCm39) missense probably damaging 1.00
R7413:Meis1 UTSW 11 18,938,357 (GRCm39) missense probably damaging 1.00
R7434:Meis1 UTSW 11 18,835,542 (GRCm39) missense unknown
R7571:Meis1 UTSW 11 18,891,702 (GRCm39) missense probably damaging 1.00
R8719:Meis1 UTSW 11 18,835,587 (GRCm39) missense probably benign
R9013:Meis1 UTSW 11 18,966,354 (GRCm39) missense probably benign 0.00
R9043:Meis1 UTSW 11 18,831,916 (GRCm39) missense possibly damaging 0.58
R9410:Meis1 UTSW 11 18,833,987 (GRCm39) critical splice donor site probably null
R9571:Meis1 UTSW 11 18,961,378 (GRCm39) missense probably damaging 1.00
Z1176:Meis1 UTSW 11 18,964,317 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CACAGTGATGTAGGAAGCGC -3'
(R):5'- GATGGATATTTCCCTCCAGTCC -3'

Sequencing Primer
(F):5'- TGTAGGAAGCGCAGAGGGATC -3'
(R):5'- AGTTGAGACCTTGTTCTTTCTCTTTG -3'
Posted On 2016-10-05