Incidental Mutation 'R3977:Mbtd1'
ID 474983
Institutional Source Beutler Lab
Gene Symbol Mbtd1
Ensembl Gene ENSMUSG00000059474
Gene Name mbt domain containing 1
Synonyms hemp
MMRRC Submission 040940-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3977 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 93776678-93837811 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93796001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 13 (N13D)
Ref Sequence ENSEMBL: ENSMUSP00000065442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063645] [ENSMUST00000063718] [ENSMUST00000107850] [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 probably benign
Transcript: ENSMUST00000063718
AA Change: N13D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
AA Change: N13D

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 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 probably benign
Transcript: ENSMUST00000107853
SMART Domains Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474

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 benign
Transcript: ENSMUST00000107854
SMART Domains Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474

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: ENSMUST00000127539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140880
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 96% (50/52)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace C T 11: 105,872,664 (GRCm39) P942L possibly damaging Het
Adam28 A G 14: 68,848,443 (GRCm39) V671A probably benign Het
Arfgef1 A G 1: 10,279,859 (GRCm39) V236A probably benign Het
B020004C17Rik G T 14: 57,254,645 (GRCm39) M156I possibly damaging Het
Bicral T A 17: 47,141,917 (GRCm39) M1L unknown Het
Brpf3 A G 17: 29,026,016 (GRCm39) E363G possibly damaging Het
Ccdc96 T C 5: 36,642,510 (GRCm39) L172P possibly damaging Het
Cln3 G A 7: 126,179,308 (GRCm39) probably benign Het
Dnah7c T C 1: 46,668,071 (GRCm39) I1526T possibly damaging Het
Entr1 T A 2: 26,274,805 (GRCm39) N364I probably damaging Het
Fmo3 T G 1: 162,786,147 (GRCm39) E281A probably damaging Het
Frem2 A G 3: 53,559,491 (GRCm39) I1672T probably benign Het
Gbp2b A G 3: 142,309,470 (GRCm39) I194V probably benign Het
Gprc6a C A 10: 51,497,197 (GRCm39) V449L probably benign Het
Hk1 A G 10: 62,126,098 (GRCm39) V396A probably benign Het
Hoxc13 T C 15: 102,829,675 (GRCm39) V18A possibly damaging Het
Hr A G 14: 70,801,024 (GRCm39) T699A probably benign Het
Il19 A T 1: 130,863,770 (GRCm39) C74S probably damaging Het
Krt1c T C 15: 101,719,562 (GRCm39) T703A unknown Het
Lrig2 A T 3: 104,365,160 (GRCm39) V664E probably damaging Het
Lrrc37a T C 11: 103,348,430 (GRCm39) K2755R unknown Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mfsd4b5 T C 10: 39,850,704 (GRCm39) probably benign Het
Nras A G 3: 102,967,541 (GRCm39) I46V probably benign Het
Oasl1 C T 5: 115,070,957 (GRCm39) T274I probably damaging Het
Ogfod2 C A 5: 124,251,272 (GRCm39) probably null Het
Or10q3 C A 19: 11,847,869 (GRCm39) R237L possibly damaging Het
Or10v1 T A 19: 11,873,880 (GRCm39) F165Y probably damaging Het
Or11a4 T C 17: 37,536,049 (GRCm39) V11A probably benign Het
Or2w1b T A 13: 21,300,031 (GRCm39) H56Q probably benign Het
Or4c3 C A 2: 89,852,089 (GRCm39) G107V probably damaging Het
Or6c5 C T 10: 129,074,377 (GRCm39) R120C probably damaging Het
Pkmyt1 A G 17: 23,954,305 (GRCm39) M362V probably benign Het
Ppfia2 A G 10: 106,666,490 (GRCm39) T399A possibly damaging Het
Ppp1r12b A G 1: 134,693,713 (GRCm39) S983P probably benign Het
Ptpn22 A G 3: 103,780,957 (GRCm39) probably benign Het
Raph1 A T 1: 60,537,682 (GRCm39) D491E probably benign Het
Rc3h1 A G 1: 160,786,969 (GRCm39) probably null Het
Rtn4 T C 11: 29,643,819 (GRCm39) L5P probably benign Het
Slc23a4 C T 6: 34,930,723 (GRCm39) V400I probably benign Het
Slco1a5 A G 6: 142,204,698 (GRCm39) probably benign Het
Smpd1 T C 7: 105,205,108 (GRCm39) F329S probably benign Het
Sycp2l A G 13: 41,295,440 (GRCm39) I334M probably damaging Het
Tas2r103 A G 6: 133,013,280 (GRCm39) L262P probably benign Het
Ten1 G A 11: 116,107,771 (GRCm39) probably null Het
Tfap2d C G 1: 19,174,718 (GRCm39) S57C possibly damaging Het
Tnr A G 1: 159,719,593 (GRCm39) M957V probably benign Het
Trbv13-3 A G 6: 41,107,079 (GRCm39) probably benign Het
Trp53rkb C T 2: 166,637,446 (GRCm39) A134V possibly damaging Het
Trp63 A G 16: 25,639,490 (GRCm39) probably benign Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Vmn2r74 T C 7: 85,607,345 (GRCm39) Y126C probably benign Het
Vmn2r96 T A 17: 18,817,941 (GRCm39) I698N probably damaging 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
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
Predicted Primers
Posted On 2017-04-14