Incidental Mutation 'R0505:Meis1'
ID 186152
Institutional Source Beutler Lab
Gene Symbol Meis1
Ensembl Gene ENSMUSG00000020160
Gene Name Meis homeobox 1
Synonyms C530044H18Rik
MMRRC Submission 038700-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0505 (G1)
Quality Score 72
Status Validated
Chromosome 11
Chromosomal Location 18879817-19018985 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19011360 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 171 (H171L)
Ref Sequence ENSEMBL: ENSMUSP00000135726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068264] [ENSMUST00000102878] [ENSMUST00000144988] [ENSMUST00000177417] [ENSMUST00000185131]
AlphaFold Q60954
Predicted Effect probably damaging
Transcript: ENSMUST00000068264
AA Change: H171L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000069277
Gene: ENSMUSG00000020160
AA Change: H171L

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 damaging
Transcript: ENSMUST00000102878
AA Change: H171L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099942
Gene: ENSMUSG00000020160
AA Change: H171L

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: ENSMUST00000117191
SMART Domains Protein: ENSMUSP00000113121
Gene: ENSMUSG00000084085

DomainStartEndE-ValueType
low complexity region 48 64 N/A INTRINSIC
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 noncoding transcript
Transcript: ENSMUST00000125722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137300
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143706
Predicted Effect probably damaging
Transcript: ENSMUST00000144988
AA Change: H171L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134969
Gene: ENSMUSG00000020160
AA Change: H171L

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 noncoding transcript
Transcript: ENSMUST00000152073
Predicted Effect unknown
Transcript: ENSMUST00000177357
AA Change: H143L
Predicted Effect probably damaging
Transcript: ENSMUST00000177417
AA Change: H171L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135726
Gene: ENSMUSG00000020160
AA Change: H171L

DomainStartEndE-ValueType
low complexity region 225 241 N/A INTRINSIC
HOX 272 337 1.05e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000185131
AA Change: H171L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139219
Gene: ENSMUSG00000020160
AA Change: H171L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193315
Meta Mutation Damage Score 0.8748 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 98% (119/121)
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: 117 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,291,058 (GRCm38) Y974H probably benign Het
Abca2 G T 2: 25,434,894 (GRCm38) G300V probably benign Het
Abi1 A G 2: 22,962,504 (GRCm38) probably benign Het
Actr10 T A 12: 70,959,964 (GRCm38) Y332N probably damaging Het
Adam25 G T 8: 40,755,224 (GRCm38) C509F probably damaging Het
Adck1 A T 12: 88,371,691 (GRCm38) probably benign Het
Adgra3 A G 5: 50,009,334 (GRCm38) probably null Het
Adgrl1 G T 8: 83,934,650 (GRCm38) probably benign Het
Akr1c21 A G 13: 4,576,307 (GRCm38) Y110C probably damaging Het
Arhgef25 T C 10: 127,183,697 (GRCm38) I463V probably null Het
Atp6v1e2 C T 17: 86,944,578 (GRCm38) V131M probably benign Het
Bdnf A G 2: 109,675,343 (GRCm38) probably null Het
C7 A T 15: 4,994,142 (GRCm38) probably benign Het
Cdc27 T C 11: 104,528,288 (GRCm38) T273A probably benign Het
Cdo1 T A 18: 46,715,611 (GRCm38) I187F probably benign Het
Cep104 A T 4: 153,996,304 (GRCm38) T742S probably benign Het
Ckm A T 7: 19,419,452 (GRCm38) K223* probably null Het
Cmtr1 C T 17: 29,676,285 (GRCm38) P586L probably benign Het
Csmd1 C T 8: 15,992,758 (GRCm38) R2325Q probably damaging Het
Dcpp1 A T 17: 23,882,594 (GRCm38) I106L possibly damaging Het
Diaph3 A C 14: 87,090,964 (GRCm38) probably benign Het
Dnah11 A G 12: 118,106,510 (GRCm38) V1520A probably damaging Het
Dnajc25 T A 4: 59,020,438 (GRCm38) M168K Het
Dpp3 T C 19: 4,914,654 (GRCm38) N542D probably damaging Het
Ebf2 A T 14: 67,371,736 (GRCm38) K199* probably null Het
Efcab11 T A 12: 99,719,035 (GRCm38) Q160L probably benign Het
Eif2ak4 T A 2: 118,431,036 (GRCm38) S686T probably benign Het
Epha6 C T 16: 60,205,732 (GRCm38) S449N possibly damaging Het
Ercc4 T C 16: 13,126,467 (GRCm38) V329A probably benign Het
Faf1 T C 4: 109,840,403 (GRCm38) F309L possibly damaging Het
Fam102b T C 3: 108,980,204 (GRCm38) E248G probably benign Het
G6pd2 C A 5: 61,809,567 (GRCm38) D228E probably benign Het
Ggt1 T G 10: 75,585,957 (GRCm38) V546G probably damaging Het
Gm14139 T A 2: 150,193,080 (GRCm38) C471* probably null Het
Gpatch4 G T 3: 88,051,217 (GRCm38) V3F probably damaging Het
Gprin3 A G 6: 59,353,387 (GRCm38) L645P probably damaging Het
Hyal2 A G 9: 107,572,071 (GRCm38) Y342C probably benign Het
Igf2bp2 A G 16: 22,089,099 (GRCm38) I16T possibly damaging Het
Inca1 T C 11: 70,690,199 (GRCm38) Y61C probably damaging Het
Ipo5 T C 14: 120,942,733 (GRCm38) W860R possibly damaging Het
Kcnj9 C T 1: 172,323,024 (GRCm38) A341T probably benign Het
Kdm5b T C 1: 134,602,571 (GRCm38) V440A probably damaging Het
L3mbtl1 C T 2: 162,947,335 (GRCm38) probably benign Het
Lin54 G A 5: 100,452,293 (GRCm38) T307I probably damaging Het
Lrrc18 C A 14: 33,009,139 (GRCm38) Q212K probably benign Het
Lrrc37a A G 11: 103,503,025 (GRCm38) S525P probably benign Het
Lrrc71 T A 3: 87,745,699 (GRCm38) S137C probably damaging Het
Lrrk1 A T 7: 66,290,908 (GRCm38) probably null Het
Man2b2 G A 5: 36,816,198 (GRCm38) S58L probably benign Het
Masp1 T A 16: 23,458,138 (GRCm38) H539L probably benign Het
Med1 G A 11: 98,156,904 (GRCm38) P1022L probably damaging Het
Mier1 T A 4: 103,155,623 (GRCm38) probably benign Het
Mkl2 C T 16: 13,412,526 (GRCm38) T1025I possibly damaging Het
Mmp13 A T 9: 7,272,929 (GRCm38) R96S probably damaging Het
Mms19 G A 19: 41,953,734 (GRCm38) T38I probably damaging Het
Mrc1 G A 2: 14,310,032 (GRCm38) C976Y probably damaging Het
Naalad2 A G 9: 18,385,895 (GRCm38) Y32H probably benign Het
Ndufs1 A G 1: 63,143,926 (GRCm38) probably benign Het
Nefm C T 14: 68,124,159 (GRCm38) D219N probably damaging Het
Nwd1 C T 8: 72,662,337 (GRCm38) P172L probably damaging Het
Nwd2 T A 5: 63,805,111 (GRCm38) D679E probably damaging Het
Ogdh T A 11: 6,339,936 (GRCm38) probably benign Het
Olfm3 T A 3: 115,122,681 (GRCm38) S421T possibly damaging Het
Olfr1281 A T 2: 111,329,328 (GRCm38) N303I probably benign Het
Olfr1445 T C 19: 12,884,079 (GRCm38) L66P probably damaging Het
Olfr1445 A G 19: 12,884,546 (GRCm38) T222A probably damaging Het
Olfr559 T A 7: 102,724,029 (GRCm38) I154F probably damaging Het
Olfr628 T C 7: 103,732,376 (GRCm38) V150A probably benign Het
Olfr988 A G 2: 85,353,749 (GRCm38) M59T possibly damaging Het
Opn5 T G 17: 42,592,953 (GRCm38) T164P possibly damaging Het
Pde7b C T 10: 20,438,746 (GRCm38) V166M probably damaging Het
Pik3ap1 T C 19: 41,324,564 (GRCm38) N370S probably damaging Het
Pkhd1l1 A T 15: 44,589,418 (GRCm38) D3913V probably damaging Het
Pld1 A G 3: 28,120,822 (GRCm38) I90V possibly damaging Het
Plxna2 A G 1: 194,644,348 (GRCm38) T197A possibly damaging Het
Plxna4 A T 6: 32,202,119 (GRCm38) M987K probably benign Het
Pmch A G 10: 88,091,359 (GRCm38) N75D probably benign Het
Prom2 T A 2: 127,532,867 (GRCm38) Q583L possibly damaging Het
Pyroxd1 T A 6: 142,353,562 (GRCm38) M148K possibly damaging Het
R3hdm2 C T 10: 127,457,700 (GRCm38) L158F probably damaging Het
Rapgef6 A T 11: 54,625,963 (GRCm38) T349S probably benign Het
Rfx5 C T 3: 94,956,355 (GRCm38) T105I probably damaging Het
Rif1 C A 2: 52,110,737 (GRCm38) P1401Q probably damaging Het
Robo3 G A 9: 37,416,759 (GRCm38) probably benign Het
Rpn1 T A 6: 88,090,242 (GRCm38) S195T probably benign Het
Rslcan18 C A 13: 67,102,119 (GRCm38) K17N probably benign Het
Rsph3b A T 17: 6,941,727 (GRCm38) I48N probably damaging Het
Sbf2 A T 7: 110,399,343 (GRCm38) Y628N probably damaging Het
Sis T C 3: 72,960,296 (GRCm38) T139A probably benign Het
Slc22a14 A G 9: 119,172,034 (GRCm38) probably benign Het
Slitrk6 A T 14: 110,749,932 (GRCm38) L781H probably damaging Het
Smarcb1 T C 10: 75,897,066 (GRCm38) T372A probably damaging Het
Spidr T A 16: 16,037,667 (GRCm38) H328L probably damaging Het
Sun5 T A 2: 153,870,952 (GRCm38) D16V probably damaging Het
Syde2 G A 3: 146,014,380 (GRCm38) E1053K possibly damaging Het
Syne2 T C 12: 76,099,464 (GRCm38) S6419P probably damaging Het
Tenm3 G A 8: 48,341,160 (GRCm38) probably benign Het
Timm44 C A 8: 4,260,532 (GRCm38) E407* probably null Het
Tmem189 A T 2: 167,644,987 (GRCm38) probably benign Het
Tnpo2 A G 8: 85,047,362 (GRCm38) T342A probably benign Het
Trio A G 15: 27,767,907 (GRCm38) C1964R probably benign Het
Trip11 A C 12: 101,885,672 (GRCm38) L711R probably damaging Het
Trp53bp1 A T 2: 121,269,969 (GRCm38) H101Q probably damaging Het
Trpm6 A G 19: 18,873,902 (GRCm38) probably benign Het
Ttn A T 2: 76,849,991 (GRCm38) probably benign Het
Ucp1 T A 8: 83,295,307 (GRCm38) M256K possibly damaging Het
Uhrf1bp1l T C 10: 89,791,443 (GRCm38) S145P probably damaging Het
Unc5a T A 13: 55,004,954 (GRCm38) S838T probably damaging Het
Uxs1 T C 1: 43,764,886 (GRCm38) probably null Het
Vmn2r108 A T 17: 20,462,834 (GRCm38) C703S possibly damaging Het
Zc3hav1 C T 6: 38,332,664 (GRCm38) G408R probably damaging Het
Zfp609 G A 9: 65,703,462 (GRCm38) L740F possibly damaging Het
Zfp69 T C 4: 120,931,095 (GRCm38) E341G probably damaging Het
Zfp707 A T 15: 75,975,256 (GRCm38) H312L probably damaging Het
Zfp773 T C 7: 7,133,024 (GRCm38) D191G probably benign Het
Zgrf1 C A 3: 127,573,238 (GRCm38) D755E probably benign Het
Zscan5b T A 7: 6,239,075 (GRCm38) I431N probably damaging Het
Other mutations in Meis1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01927:Meis1 APN 11 18,881,811 (GRCm38) missense probably benign 0.25
IGL02156:Meis1 APN 11 19,011,292 (GRCm38) missense probably benign 0.03
IGL02376:Meis1 APN 11 18,881,752 (GRCm38) missense probably benign 0.06
R0833:Meis1 UTSW 11 18,881,767 (GRCm38) missense possibly damaging 0.91
R1477:Meis1 UTSW 11 18,881,665 (GRCm38) nonsense probably null
R1512:Meis1 UTSW 11 18,881,682 (GRCm38) missense probably damaging 0.97
R1643:Meis1 UTSW 11 19,016,278 (GRCm38) missense probably benign 0.00
R1717:Meis1 UTSW 11 19,010,608 (GRCm38) intron probably benign
R2117:Meis1 UTSW 11 18,881,679 (GRCm38) missense probably damaging 1.00
R2342:Meis1 UTSW 11 18,881,647 (GRCm38) missense probably damaging 1.00
R2426:Meis1 UTSW 11 18,988,356 (GRCm38) missense possibly damaging 0.64
R3076:Meis1 UTSW 11 19,011,254 (GRCm38) missense probably benign 0.01
R3078:Meis1 UTSW 11 19,011,254 (GRCm38) missense probably benign 0.01
R4368:Meis1 UTSW 11 19,010,656 (GRCm38) intron probably benign
R4915:Meis1 UTSW 11 19,009,222 (GRCm38) intron probably benign
R4916:Meis1 UTSW 11 18,881,776 (GRCm38) missense possibly damaging 0.91
R4917:Meis1 UTSW 11 19,009,222 (GRCm38) intron probably benign
R4918:Meis1 UTSW 11 19,009,222 (GRCm38) intron probably benign
R4948:Meis1 UTSW 11 19,016,308 (GRCm38) missense probably benign 0.00
R5093:Meis1 UTSW 11 18,881,785 (GRCm38) missense probably benign 0.13
R5506:Meis1 UTSW 11 18,941,747 (GRCm38) missense possibly damaging 0.52
R5507:Meis1 UTSW 11 19,016,168 (GRCm38) missense probably benign 0.27
R5521:Meis1 UTSW 11 18,988,260 (GRCm38) splice site probably benign
R5673:Meis1 UTSW 11 19,012,812 (GRCm38) missense probably damaging 1.00
R5813:Meis1 UTSW 11 19,016,229 (GRCm38) missense probably benign 0.11
R6347:Meis1 UTSW 11 18,905,631 (GRCm38) splice site probably null
R6354:Meis1 UTSW 11 19,016,184 (GRCm38) missense possibly damaging 0.89
R6383:Meis1 UTSW 11 18,941,741 (GRCm38) missense probably benign
R6624:Meis1 UTSW 11 19,016,215 (GRCm38) missense probably benign
R7292:Meis1 UTSW 11 19,011,351 (GRCm38) missense probably damaging 1.00
R7413:Meis1 UTSW 11 18,988,357 (GRCm38) missense probably damaging 1.00
R7434:Meis1 UTSW 11 18,885,542 (GRCm38) missense unknown
R7571:Meis1 UTSW 11 18,941,702 (GRCm38) missense probably damaging 1.00
R8719:Meis1 UTSW 11 18,885,587 (GRCm38) missense probably benign
R9013:Meis1 UTSW 11 19,016,354 (GRCm38) missense probably benign 0.00
R9043:Meis1 UTSW 11 18,881,916 (GRCm38) missense possibly damaging 0.58
R9410:Meis1 UTSW 11 18,883,987 (GRCm38) critical splice donor site probably null
R9571:Meis1 UTSW 11 19,011,378 (GRCm38) missense probably damaging 1.00
Z1176:Meis1 UTSW 11 19,014,317 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGTGGTGACCCAGCAAGCAATATG -3'
(R):5'- GTTTACCTTAAGTGTCCCCACGCAG -3'

Sequencing Primer
(F):5'- AAGTCGCATACCTGGTCAGT -3'
(R):5'- ATGTTGTCGCCTGTGAATCAATC -3'
Posted On 2014-05-08