Incidental Mutation 'R6293:Mbtd1'
ID 508568
Institutional Source Beutler Lab
Gene Symbol Mbtd1
Ensembl Gene ENSMUSG00000059474
Gene Name mbt domain containing 1
Synonyms hemp
MMRRC Submission 044462-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6293 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 93776678-93837811 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 93823058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 493 (H493Y)
Ref Sequence ENSEMBL: ENSMUSP00000103486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063645] [ENSMUST00000063718] [ENSMUST00000107852] [ENSMUST00000107853] [ENSMUST00000107854]
AlphaFold Q6P5G3
Predicted Effect probably benign
Transcript: ENSMUST00000063645
SMART Domains Protein: ENSMUSP00000070248
Gene: ENSMUSG00000059474

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
PDB:2W0T|A 52 74 7e-6 PDB
low complexity region 75 90 N/A INTRINSIC
low complexity region 114 130 N/A INTRINSIC
MBT 144 248 3.11e-22 SMART
MBT 256 357 1.28e-41 SMART
MBT 361 459 1.61e-38 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000063718
AA Change: H515Y

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
AA Change: H515Y

DomainStartEndE-ValueType
low complexity region 29 46 N/A INTRINSIC
PDB:2W0T|A 74 96 7e-6 PDB
low complexity region 97 112 N/A INTRINSIC
low complexity region 136 152 N/A INTRINSIC
MBT 166 270 3.11e-22 SMART
MBT 278 379 1.28e-41 SMART
MBT 383 481 1.61e-38 SMART
MBT 489 585 4.11e-54 SMART
low complexity region 586 614 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107852
SMART Domains Protein: ENSMUSP00000103484
Gene: ENSMUSG00000059474

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
PDB:2W0T|A 52 74 5e-6 PDB
low complexity region 75 90 N/A INTRINSIC
low complexity region 114 130 N/A INTRINSIC
MBT 144 248 3.11e-22 SMART
MBT 256 357 1.28e-41 SMART
MBT 361 433 1.29e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107853
AA Change: H493Y

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
AA Change: H493Y

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
PDB:2W0T|A 52 74 1e-6 PDB
low complexity region 75 90 N/A INTRINSIC
low complexity region 114 130 N/A INTRINSIC
MBT 144 248 1.2e-24 SMART
MBT 256 357 4.8e-44 SMART
MBT 361 459 6.1e-41 SMART
MBT 467 563 1.6e-56 SMART
low complexity region 564 592 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107854
AA Change: H493Y

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
AA Change: H493Y

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
PDB:2W0T|A 52 74 1e-6 PDB
low complexity region 75 90 N/A INTRINSIC
low complexity region 114 130 N/A INTRINSIC
MBT 144 248 1.2e-24 SMART
MBT 256 357 4.9e-44 SMART
MBT 361 459 6.2e-41 SMART
MBT 467 563 1.6e-56 SMART
low complexity region 564 592 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155841
Meta Mutation Damage Score 0.1237 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.4%
Validation Efficiency 98% (54/55)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality and severe abnormalities in hematopoietic stem cell function and skeletal formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,935,395 (GRCm39) D323G probably damaging Het
Abcb1b T C 5: 8,903,493 (GRCm39) I1048T probably benign Het
Adgra3 G A 5: 50,118,189 (GRCm39) P1120S probably benign Het
Alkbh8 G T 9: 3,347,841 (GRCm39) L211F possibly damaging Het
Ankrd27 T C 7: 35,307,885 (GRCm39) S375P possibly damaging Het
Apoc1 T A 7: 19,425,817 (GRCm39) T68S probably damaging Het
Arfgef2 T A 2: 166,715,508 (GRCm39) Y1318N possibly damaging Het
Camsap2 C A 1: 136,215,658 (GRCm39) R345L probably damaging Het
Ccdc38 C T 10: 93,398,659 (GRCm39) Q46* probably null Het
Cdk12 T A 11: 98,115,379 (GRCm39) M840K unknown Het
Cfap251 A C 5: 123,460,511 (GRCm39) N1158H probably damaging Het
Col12a1 A T 9: 79,521,640 (GRCm39) N2772K probably benign Het
Dthd1 A G 5: 63,000,193 (GRCm39) D505G probably damaging Het
Elf1 C T 14: 79,798,226 (GRCm39) H38Y probably damaging Het
Gcnt2 T A 13: 41,072,173 (GRCm39) V272D probably damaging Het
Gm9964 T A 11: 79,187,420 (GRCm39) K9M unknown Het
Gpr155 A G 2: 73,204,341 (GRCm39) S158P possibly damaging Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hmcn2 T C 2: 31,225,463 (GRCm39) I124T probably damaging Het
Hydin A G 8: 111,324,543 (GRCm39) S4635G possibly damaging Het
Lrch2 C T X: 146,263,553 (GRCm39) A369T probably damaging Homo
Lrrc8c A G 5: 105,754,612 (GRCm39) Y129C probably damaging Het
Mcm3ap C G 10: 76,307,312 (GRCm39) Y418* probably null Het
Mpdz A G 4: 81,278,293 (GRCm39) L764P probably damaging Het
Myt1l A G 12: 29,877,627 (GRCm39) D426G unknown Het
Ndel1 C T 11: 68,727,101 (GRCm39) R192H probably damaging Het
Nudt21 T C 8: 94,755,506 (GRCm39) D134G probably damaging Het
Nup210l A T 3: 90,022,371 (GRCm39) H113L probably damaging Het
Nxf1 A G 19: 8,746,546 (GRCm39) K586E probably damaging Het
Or2ag15 T C 7: 106,340,613 (GRCm39) H176R probably damaging Het
Or4s2 A G 2: 88,473,624 (GRCm39) E171G possibly damaging Het
Osbpl8 A G 10: 111,108,099 (GRCm39) Y365C possibly damaging Het
Pkd2l2 A G 18: 34,560,497 (GRCm39) Y368C probably damaging Het
Pkn2 A G 3: 142,515,465 (GRCm39) F649L probably benign Het
Pla2g4a T C 1: 149,755,798 (GRCm39) Y205C probably damaging Het
Prex2 A G 1: 11,232,522 (GRCm39) N863S probably benign Het
Prkdc A G 16: 15,605,019 (GRCm39) K2979R probably benign Het
Ptk6 T C 2: 180,840,253 (GRCm39) Y251C probably damaging Het
Rapgef6 T A 11: 54,525,607 (GRCm39) W334R probably damaging Het
Rbm11 A T 16: 75,393,655 (GRCm39) probably null Het
Rhbdl1 A G 17: 26,053,943 (GRCm39) L309P probably damaging Het
Rhbg G A 3: 88,153,133 (GRCm39) R274* probably null Het
Rpp30 A G 19: 36,081,845 (GRCm39) *269W probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Homo
Slc44a1 A G 4: 53,561,099 (GRCm39) K605R probably damaging Het
Slco2a1 A G 9: 102,927,346 (GRCm39) S80G probably benign Het
Tmem50b A T 16: 91,380,164 (GRCm39) M71K probably damaging Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Tyro3 A G 2: 119,638,481 (GRCm39) T303A possibly damaging Het
Uba3 A T 6: 97,173,869 (GRCm39) D105E probably damaging Het
Vmn1r21 T C 6: 57,821,255 (GRCm39) D63G probably benign Het
Vstm2b T A 7: 40,549,533 (GRCm39) I63N probably damaging Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown Het
Zscan22 T A 7: 12,640,834 (GRCm39) C359* probably null Het
Other mutations in Mbtd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00814:Mbtd1 APN 11 93,834,666 (GRCm39) missense possibly damaging 0.94
IGL00819:Mbtd1 APN 11 93,822,637 (GRCm39) critical splice acceptor site probably null
IGL01140:Mbtd1 APN 11 93,815,258 (GRCm39) missense probably damaging 1.00
IGL01553:Mbtd1 APN 11 93,814,040 (GRCm39) missense probably benign 0.35
IGL01893:Mbtd1 APN 11 93,812,238 (GRCm39) missense probably null
IGL02218:Mbtd1 APN 11 93,822,629 (GRCm39) splice site probably benign
IGL02406:Mbtd1 APN 11 93,799,684 (GRCm39) missense probably damaging 1.00
IGL03002:Mbtd1 APN 11 93,815,316 (GRCm39) missense probably benign 0.15
IGL03347:Mbtd1 APN 11 93,814,005 (GRCm39) missense probably benign 0.01
R0027:Mbtd1 UTSW 11 93,815,375 (GRCm39) missense possibly damaging 0.85
R0027:Mbtd1 UTSW 11 93,815,375 (GRCm39) missense possibly damaging 0.85
R0311:Mbtd1 UTSW 11 93,812,183 (GRCm39) splice site probably null
R0513:Mbtd1 UTSW 11 93,823,038 (GRCm39) splice site probably null
R0646:Mbtd1 UTSW 11 93,796,038 (GRCm39) missense probably damaging 1.00
R0734:Mbtd1 UTSW 11 93,813,972 (GRCm39) missense probably damaging 1.00
R0835:Mbtd1 UTSW 11 93,822,665 (GRCm39) missense probably benign 0.23
R1295:Mbtd1 UTSW 11 93,801,185 (GRCm39) missense probably damaging 0.99
R1296:Mbtd1 UTSW 11 93,801,185 (GRCm39) missense probably damaging 0.99
R1996:Mbtd1 UTSW 11 93,823,222 (GRCm39) frame shift probably null
R2157:Mbtd1 UTSW 11 93,801,214 (GRCm39) missense probably benign 0.20
R3977:Mbtd1 UTSW 11 93,796,001 (GRCm39) missense probably benign
R4435:Mbtd1 UTSW 11 93,823,048 (GRCm39) missense probably benign
R4589:Mbtd1 UTSW 11 93,812,245 (GRCm39) missense probably damaging 1.00
R4647:Mbtd1 UTSW 11 93,815,437 (GRCm39) missense probably damaging 1.00
R4824:Mbtd1 UTSW 11 93,816,528 (GRCm39) missense probably benign 0.00
R4919:Mbtd1 UTSW 11 93,813,974 (GRCm39) splice site probably null
R5045:Mbtd1 UTSW 11 93,822,641 (GRCm39) missense probably benign 0.26
R5095:Mbtd1 UTSW 11 93,820,497 (GRCm39) missense probably damaging 1.00
R5227:Mbtd1 UTSW 11 93,815,474 (GRCm39) missense possibly damaging 0.54
R5619:Mbtd1 UTSW 11 93,820,705 (GRCm39) splice site probably null
R6057:Mbtd1 UTSW 11 93,820,485 (GRCm39) missense probably damaging 0.99
R6294:Mbtd1 UTSW 11 93,823,058 (GRCm39) missense possibly damaging 0.79
R6295:Mbtd1 UTSW 11 93,823,058 (GRCm39) missense possibly damaging 0.79
R6297:Mbtd1 UTSW 11 93,823,058 (GRCm39) missense possibly damaging 0.79
R6998:Mbtd1 UTSW 11 93,815,438 (GRCm39) missense probably damaging 1.00
R7423:Mbtd1 UTSW 11 93,834,622 (GRCm39) missense probably benign 0.38
R7519:Mbtd1 UTSW 11 93,799,725 (GRCm39) missense probably damaging 1.00
R8250:Mbtd1 UTSW 11 93,801,176 (GRCm39) missense probably damaging 1.00
R9180:Mbtd1 UTSW 11 93,823,218 (GRCm39) missense probably damaging 1.00
R9181:Mbtd1 UTSW 11 93,803,241 (GRCm39) missense probably benign
R9215:Mbtd1 UTSW 11 93,834,628 (GRCm39) missense possibly damaging 0.67
R9446:Mbtd1 UTSW 11 93,834,508 (GRCm39) missense unknown
R9474:Mbtd1 UTSW 11 93,816,511 (GRCm39) missense probably benign
R9575:Mbtd1 UTSW 11 93,799,764 (GRCm39) critical splice donor site probably null
R9696:Mbtd1 UTSW 11 93,823,218 (GRCm39) missense probably damaging 1.00
X0024:Mbtd1 UTSW 11 93,815,375 (GRCm39) missense possibly damaging 0.85
Z1177:Mbtd1 UTSW 11 93,803,285 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GTAGCATGATCACGACATAAGAGTG -3'
(R):5'- ATAGAGGTCAGGGGACTCAC -3'

Sequencing Primer
(F):5'- CACGACATAAGAGTGGAAATTTTTC -3'
(R):5'- TCAGGGGACTCACAGTCTAC -3'
Posted On 2018-03-15