Incidental Mutation 'R7292:Meis1'
ID 566503
Institutional Source Beutler Lab
Gene Symbol Meis1
Ensembl Gene ENSMUSG00000020160
Gene Name Meis homeobox 1
Synonyms C530044H18Rik
MMRRC Submission 045397-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7292 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 18830428-18968992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18961351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 174 (I174T)
Ref Sequence ENSEMBL: ENSMUSP00000139219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068264] [ENSMUST00000102878] [ENSMUST00000144988] [ENSMUST00000177417] [ENSMUST00000185131]
AlphaFold Q60954
Predicted Effect probably damaging
Transcript: ENSMUST00000068264
AA Change: I174T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069277
Gene: ENSMUSG00000020160
AA Change: I174T

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: I174T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099942
Gene: ENSMUSG00000020160
AA Change: I174T

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 probably damaging
Transcript: ENSMUST00000144988
AA Change: I174T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134969
Gene: ENSMUSG00000020160
AA Change: I174T

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
Predicted Effect probably damaging
Transcript: ENSMUST00000177417
AA Change: I174T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135726
Gene: ENSMUSG00000020160
AA Change: I174T

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: I174T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139219
Gene: ENSMUSG00000020160
AA Change: I174T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,215,861 (GRCm39) C322* probably null Het
4930553M12Rik G A 4: 88,786,568 (GRCm39) R17C unknown Het
Abcc8 G A 7: 45,784,950 (GRCm39) T726I probably benign Het
Adamts18 T C 8: 114,436,277 (GRCm39) T981A probably benign Het
Adgrb3 A G 1: 25,570,957 (GRCm39) C507R probably damaging Het
Bloc1s6 T A 2: 122,584,615 (GRCm39) D63E probably damaging Het
Cdc25b C T 2: 131,033,093 (GRCm39) R135W probably damaging Het
Cdca2 G T 14: 67,915,326 (GRCm39) Y644* probably null Het
Ceacam10 G T 7: 24,477,775 (GRCm39) G97C probably damaging Het
Cenpf G A 1: 189,382,891 (GRCm39) L2668F probably damaging Het
Cog4 A G 8: 111,608,460 (GRCm39) D774G probably damaging Het
Col11a2 G A 17: 34,270,482 (GRCm39) G511E unknown Het
Col19a1 T A 1: 24,569,089 (GRCm39) I220F unknown Het
Cubn G T 2: 13,429,550 (GRCm39) T1317K probably damaging Het
Dnaaf5 T C 5: 139,136,072 (GRCm39) L24P unknown Het
Eif4a3l2 G A 6: 116,528,438 (GRCm39) R105Q probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Foxn4 C A 5: 114,396,716 (GRCm39) E256* probably null Het
Gm5930 A G 14: 44,574,014 (GRCm39) S108P probably damaging Het
Gnl3 A G 14: 30,735,189 (GRCm39) S468P probably benign Het
Gzmb A T 14: 56,499,576 (GRCm39) S11T probably benign Het
Hmcn1 T C 1: 150,608,880 (GRCm39) probably null Het
Ifi206 A G 1: 173,301,428 (GRCm39) L750P unknown Het
Ifi213 T A 1: 173,422,691 (GRCm39) E58V probably damaging Het
Igkv4-78 A T 6: 69,036,752 (GRCm39) Y94N probably damaging Het
Igsf9 G T 1: 172,319,324 (GRCm39) probably null Het
Itpr2 G T 6: 146,060,447 (GRCm39) L2490M possibly damaging Het
Kdm2b A G 5: 123,018,854 (GRCm39) F862S probably damaging Het
Kif19b A G 5: 140,457,425 (GRCm39) D398G probably benign Het
Micu3 A G 8: 40,835,166 (GRCm39) Q507R probably benign Het
Mpp4 C T 1: 59,182,969 (GRCm39) E313K possibly damaging Het
Nfatc4 G A 14: 56,062,512 (GRCm39) E7K probably damaging Het
Or7g16 A T 9: 18,727,486 (GRCm39) Y35N probably damaging Het
Or9s18 T A 13: 65,300,656 (GRCm39) V206D possibly damaging Het
Osbpl5 G A 7: 143,255,015 (GRCm39) P470S probably damaging Het
Pak6 A G 2: 118,524,072 (GRCm39) D409G possibly damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,361,986 (GRCm39) M553K probably benign Het
Ppp2r3d T C 9: 101,089,871 (GRCm39) N151D probably damaging Het
Prdm12 T C 2: 31,533,862 (GRCm39) W160R probably damaging Het
Prdm2 G A 4: 142,859,471 (GRCm39) T1273M possibly damaging Het
Prl2a1 A G 13: 27,991,353 (GRCm39) probably null Het
Prob1 G A 18: 35,787,603 (GRCm39) P217L possibly damaging Het
Ramp1 A C 1: 91,124,499 (GRCm39) H20P probably benign Het
Rbm47 T A 5: 66,184,093 (GRCm39) E170V possibly damaging Het
Relch G T 1: 105,649,141 (GRCm39) probably null Het
Rpn1 C T 6: 88,067,066 (GRCm39) P142L probably damaging Het
Rsu1 C T 2: 13,174,827 (GRCm39) R238H probably damaging Het
Sh3rf3 C T 10: 58,907,795 (GRCm39) P441L probably damaging Het
Slc1a6 A G 10: 78,650,438 (GRCm39) S559G possibly damaging Het
Slc35f5 C A 1: 125,500,222 (GRCm39) S245R probably damaging Het
Spcs3 T C 8: 54,979,554 (GRCm39) N76D probably benign Het
Spmip5 A T 19: 58,777,539 (GRCm39) Y90* probably null Het
Svep1 T C 4: 58,111,395 (GRCm39) T1075A possibly damaging Het
Sympk A T 7: 18,769,955 (GRCm39) I211F probably benign Het
Tk1 C T 11: 117,716,603 (GRCm39) M1I probably null Het
Tln2 A G 9: 67,253,743 (GRCm39) V776A probably benign Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Tnk2 T C 16: 32,499,618 (GRCm39) V977A probably benign Het
Toporsl A T 4: 52,611,630 (GRCm39) S508C probably benign Het
Trank1 A C 9: 111,206,938 (GRCm39) R1690S probably benign Het
Trio T A 15: 27,828,437 (GRCm39) Q1409L possibly damaging Het
Vit T C 17: 78,912,927 (GRCm39) F287L probably benign Het
Vmn2r109 G C 17: 20,761,700 (GRCm39) D552E probably benign Het
Zw10 T C 9: 48,972,491 (GRCm39) V186A probably benign 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
R5506:Meis1 UTSW 11 18,891,747 (GRCm39) missense possibly damaging 0.52
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
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'- GTGACCCAGCAAGCAATATGC -3'
(R):5'- GTCACTGTCAATTTTCTGGGATATCTC -3'

Sequencing Primer
(F):5'- TCGCATACCTGGTCAGTT -3'
(R):5'- ATTCCTAATTCTGAATGCGTCTGG -3'
Posted On 2019-06-26