Incidental Mutation 'IGL01140:Mbtd1'
ID 52376
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mbtd1
Ensembl Gene ENSMUSG00000059474
Gene Name mbt domain containing 1
Synonyms hemp
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01140
Quality Score
Status
Chromosome 11
Chromosomal Location 93776678-93837811 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93815258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 282 (E282G)
Ref Sequence ENSEMBL: ENSMUSP00000103484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063645] [ENSMUST00000063718] [ENSMUST00000107850] [ENSMUST00000107852] [ENSMUST00000107853] [ENSMUST00000107854]
AlphaFold Q6P5G3
Predicted Effect possibly damaging
Transcript: ENSMUST00000063645
AA Change: E282G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000070248
Gene: ENSMUSG00000059474
AA Change: E282G

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 probably damaging
Transcript: ENSMUST00000063718
AA Change: E304G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
AA Change: E304G

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: ENSMUST00000107850
SMART Domains Protein: ENSMUSP00000103482
Gene: ENSMUSG00000059474

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
Blast:MBT 25 52 2e-9 BLAST
PDB:2W0T|A 52 74 2e-6 PDB
low complexity region 75 90 N/A INTRINSIC
low complexity region 114 130 N/A INTRINSIC
PDB:4C5I|B 131 201 5e-37 PDB
Blast:MBT 144 201 1e-35 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000107852
AA Change: E282G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103484
Gene: ENSMUSG00000059474
AA Change: E282G

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 probably damaging
Transcript: ENSMUST00000107853
AA Change: E282G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
AA Change: E282G

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 probably damaging
Transcript: ENSMUST00000107854
AA Change: E282G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
AA Change: E282G

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: ENSMUST00000138281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140880
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm A G 5: 90,672,726 (GRCm39) E187G probably damaging Het
Asap2 T C 12: 21,256,317 (GRCm39) V205A probably damaging Het
Atg16l1 A G 1: 87,702,575 (GRCm39) I279V probably benign Het
Atp2b2 C T 6: 113,766,932 (GRCm39) V436I possibly damaging Het
Cald1 T A 6: 34,739,196 (GRCm39) S640T possibly damaging Het
Cdc23 A G 18: 34,769,385 (GRCm39) Y460H probably benign Het
Cenpk T A 13: 104,372,742 (GRCm39) probably benign Het
Ctss A G 3: 95,446,036 (GRCm39) E52G probably damaging Het
Cuzd1 A T 7: 130,913,523 (GRCm39) C365S probably damaging Het
Cyp2c55 T C 19: 39,007,093 (GRCm39) L163P probably benign Het
Cyp4f37 T C 17: 32,848,027 (GRCm39) S182P probably benign Het
Flt4 G T 11: 49,525,770 (GRCm39) E740* probably null Het
Galntl6 T A 8: 58,411,356 (GRCm39) R291S probably damaging Het
Hydin G A 8: 111,124,694 (GRCm39) V568I probably benign Het
Ift70a1 A G 2: 75,810,259 (GRCm39) V608A probably benign Het
Kcnab3 A G 11: 69,220,705 (GRCm39) K145R probably benign Het
Lama1 T C 17: 68,109,928 (GRCm39) V2183A probably benign Het
Lrmda C T 14: 22,646,585 (GRCm39) A75V possibly damaging Het
Muc19 A T 15: 91,783,593 (GRCm39) noncoding transcript Het
Mug1 A G 6: 121,859,693 (GRCm39) T1231A probably benign Het
Nkpd1 A G 7: 19,257,387 (GRCm39) T389A possibly damaging Het
Nudt19 A G 7: 35,247,336 (GRCm39) *358Q probably null Het
Nup160 G T 2: 90,530,909 (GRCm39) M522I possibly damaging Het
Obsl1 T A 1: 75,466,400 (GRCm39) probably benign Het
Or4m1 T A 14: 50,557,732 (GRCm39) I187F probably damaging Het
Or5ak24 T C 2: 85,260,484 (GRCm39) T230A probably benign Het
Or5b119 G A 19: 13,457,151 (GRCm39) T137I possibly damaging Het
Osbpl10 C T 9: 115,005,070 (GRCm39) P341S probably benign Het
Papola C A 12: 105,775,856 (GRCm39) C7* probably null Het
Pld1 C A 3: 28,132,386 (GRCm39) L525I probably benign Het
Prom2 T C 2: 127,373,125 (GRCm39) probably benign Het
Psmb5 G A 14: 54,855,264 (GRCm39) T62I possibly damaging Het
Sag A G 1: 87,751,086 (GRCm39) E184G probably benign Het
Slc16a10 T C 10: 39,952,921 (GRCm39) Y191C probably damaging Het
Slc22a22 T C 15: 57,126,734 (GRCm39) T93A probably damaging Het
Ssx2ip A G 3: 146,133,598 (GRCm39) Y231C probably benign Het
Trib1 A G 15: 59,523,476 (GRCm39) Y170C probably damaging Het
Trmt10a G A 3: 137,862,459 (GRCm39) probably benign Het
Troap G T 15: 98,980,027 (GRCm39) Q402H probably damaging Het
Vmn2r70 G A 7: 85,214,379 (GRCm39) Q258* probably null Het
Zfp128 A G 7: 12,624,949 (GRCm39) Y439C probably benign Het
Zmym1 A G 4: 126,943,435 (GRCm39) F318L probably damaging Het
Zswim2 A G 2: 83,745,672 (GRCm39) S589P probably benign 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
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
R6293:Mbtd1 UTSW 11 93,823,058 (GRCm39) missense possibly damaging 0.79
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
Posted On 2013-06-21