Incidental Mutation 'R2157:Mbtd1'
ID 234933
Institutional Source Beutler Lab
Gene Symbol Mbtd1
Ensembl Gene ENSMUSG00000059474
Gene Name mbt domain containing 1
Synonyms hemp
MMRRC Submission 040160-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2157 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 93776678-93837811 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93801214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 132 (T132A)
Ref Sequence ENSEMBL: ENSMUSP00000103484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063645] [ENSMUST00000063718] [ENSMUST00000107850] [ENSMUST00000107852] [ENSMUST00000107853] [ENSMUST00000107854]
AlphaFold Q6P5G3
Predicted Effect probably benign
Transcript: ENSMUST00000063645
AA Change: T132A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000070248
Gene: ENSMUSG00000059474
AA Change: T132A

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: T154A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
AA Change: T154A

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
AA Change: T132A

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103482
Gene: ENSMUSG00000059474
AA Change: T132A

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
AA Change: T132A

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103484
Gene: ENSMUSG00000059474
AA Change: T132A

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
AA Change: T132A

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
AA Change: T132A

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
AA Change: T132A

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
AA Change: T132A

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: ENSMUST00000132739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140880
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145354
Meta Mutation Damage Score 0.0574 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (80/80)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik A T 8: 125,378,168 (GRCm39) probably benign Het
4930590J08Rik T A 6: 91,919,468 (GRCm39) M709K possibly damaging Het
4930590J08Rik A G 6: 91,894,679 (GRCm39) probably null Het
A930011G23Rik T G 5: 99,379,956 (GRCm39) I394L probably damaging Het
Abca13 A C 11: 9,527,170 (GRCm39) M4528L probably damaging Het
Abcb1b G A 5: 8,874,791 (GRCm39) A484T probably benign Het
Actn1 A T 12: 80,219,891 (GRCm39) M660K probably benign Het
Adgra3 G T 5: 50,159,283 (GRCm39) N322K possibly damaging Het
Ahnak A G 19: 8,978,048 (GRCm39) I56V possibly damaging Het
Amotl2 A G 9: 102,607,788 (GRCm39) probably benign Het
Apoa1 T C 9: 46,140,471 (GRCm39) V34A probably damaging Het
Arrdc1 G A 2: 24,816,987 (GRCm39) A113V probably damaging Het
As3mt A G 19: 46,696,231 (GRCm39) D13G probably benign Het
Cald1 A G 6: 34,662,976 (GRCm39) Q13R possibly damaging Het
Ccdc28a G A 10: 18,106,203 (GRCm39) T41I probably benign Het
Ccdc30 A T 4: 119,190,921 (GRCm39) probably benign Het
Cct2 T C 10: 116,898,714 (GRCm39) probably benign Het
Cdh12 T C 15: 21,583,873 (GRCm39) I571T possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Ckm T C 7: 19,155,279 (GRCm39) S372P probably benign Het
Comp C T 8: 70,832,220 (GRCm39) Q554* probably null Het
Csf2ra T C 19: 61,215,509 (GRCm39) T70A probably benign Het
Csmd3 T C 15: 47,559,183 (GRCm39) E2256G probably damaging Het
Dicer1 A T 12: 104,669,208 (GRCm39) V1158D probably benign Het
Dner A G 1: 84,361,659 (GRCm39) F650S possibly damaging Het
Dnm3 T C 1: 162,135,462 (GRCm39) N437S possibly damaging Het
Dpy19l2 T C 9: 24,592,076 (GRCm39) I176V probably benign Het
Dpy19l2 A T 9: 24,495,928 (GRCm39) C597S probably benign Het
Edf1 T C 2: 25,448,043 (GRCm39) probably null Het
Eif1ad16 A T 12: 87,985,481 (GRCm39) S21T unknown Het
Enpp3 A G 10: 24,652,776 (GRCm39) F727S probably damaging Het
Epb42 C T 2: 120,852,243 (GRCm39) M583I probably benign Het
Foxred1 A G 9: 35,116,659 (GRCm39) F117S probably damaging Het
Fstl5 T A 3: 76,615,372 (GRCm39) M811K possibly damaging Het
Gm5117 A T 8: 32,228,222 (GRCm39) noncoding transcript Het
Gpm6a T C 8: 55,511,833 (GRCm39) S236P probably damaging Het
Grik1 G A 16: 87,853,012 (GRCm39) A57V probably damaging Het
Hdgfl2 G A 17: 56,405,691 (GRCm39) V476I possibly damaging Het
Il17b G T 18: 61,823,439 (GRCm39) W91L probably damaging Het
Jph4 C A 14: 55,350,984 (GRCm39) R344L probably benign Het
Map3k21 A G 8: 126,664,005 (GRCm39) D522G probably benign Het
Mast2 A G 4: 116,179,480 (GRCm39) L398S probably damaging Het
Mbtps1 G T 8: 120,269,466 (GRCm39) T208K probably benign Het
Mr1 A G 1: 155,022,376 (GRCm39) probably null Het
Mthfsd G A 8: 121,828,240 (GRCm39) L140F probably damaging Het
Mybpc2 C G 7: 44,159,269 (GRCm39) D594H possibly damaging Het
Nalcn T C 14: 123,647,164 (GRCm39) M570V probably benign Het
Ncam2 T C 16: 81,287,277 (GRCm39) I397T probably damaging Het
Ndufs4 C T 13: 114,453,514 (GRCm39) V75I probably damaging Het
Nek4 T A 14: 30,701,925 (GRCm39) probably null Het
Nfatc1 G T 18: 80,679,060 (GRCm39) A762D possibly damaging Het
Nhsl3 C T 4: 129,117,917 (GRCm39) R249H possibly damaging Het
Npc1 A G 18: 12,324,866 (GRCm39) I1209T probably damaging Het
Or10k2 T C 8: 84,268,250 (GRCm39) I159T probably benign Het
Or4c11 A T 2: 88,695,213 (GRCm39) N88I probably benign Het
Pak5 T C 2: 135,942,877 (GRCm39) D421G probably damaging Het
Pias1 A G 9: 62,820,112 (GRCm39) V285A possibly damaging Het
Pigg T A 5: 108,466,755 (GRCm39) I212N probably damaging Het
Plcd3 A T 11: 102,961,974 (GRCm39) C711S probably benign Het
Plscr5 G A 9: 92,080,550 (GRCm39) R12K probably benign Het
Plxna4 T C 6: 32,493,909 (GRCm39) I236V probably benign Het
Ppp1r26 T C 2: 28,342,370 (GRCm39) F667L probably benign Het
Prkx A G X: 76,814,920 (GRCm39) F247L probably benign Het
Qpct G A 17: 79,378,115 (GRCm39) R95Q probably benign Het
Ralgapb G T 2: 158,279,392 (GRCm39) M159I probably benign Het
Rnf145 T C 11: 44,445,997 (GRCm39) L277P probably damaging Het
Scn9a A G 2: 66,366,669 (GRCm39) S705P probably damaging Het
Slc4a8 A G 15: 100,704,254 (GRCm39) T750A probably damaging Het
Slc66a1 A T 4: 139,029,166 (GRCm39) V106D probably damaging Het
Syne2 A G 12: 76,141,230 (GRCm39) E6114G probably damaging Het
Tat T C 8: 110,724,236 (GRCm39) M375T probably damaging Het
Tex10 C T 4: 48,436,522 (GRCm39) probably benign Het
Tmprss11e T C 5: 86,861,587 (GRCm39) K320E probably benign Het
Tnr T C 1: 159,685,840 (GRCm39) I357T probably damaging Het
Vmn1r229 A T 17: 21,035,638 (GRCm39) R294S possibly damaging Het
Vmn2r116 G A 17: 23,620,443 (GRCm39) D726N probably damaging Het
Vpreb1b T A 16: 17,798,934 (GRCm39) L140* probably null Het
Wfs1 G A 5: 37,125,286 (GRCm39) P535L probably damaging Het
Xdh A G 17: 74,229,532 (GRCm39) L307P probably damaging Het
Zfp160 A G 17: 21,241,090 (GRCm39) S53G probably benign Het
Zfp319 A G 8: 96,054,659 (GRCm39) C515R probably damaging Het
Zfp747 A G 7: 126,974,929 (GRCm39) F24L possibly damaging Het
Zzef1 A T 11: 72,739,460 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- AAAGTTCCTTGTATGTGTTCTCTGC -3'
(R):5'- ATTCCCCTTTGCAACAGTTAAC -3'

Sequencing Primer
(F):5'- CCCTCAGTATTTAAGCAGAATGAG -3'
(R):5'- CCTTTGCAACAGTTAACCAACC -3'
Posted On 2014-10-01