Incidental Mutation 'IGL02406:Mbtd1'
ID292074
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mbtd1
Ensembl Gene ENSMUSG00000059474
Gene Namembt domain containing 1
Synonymshemp
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02406
Quality Score
Status
Chromosome11
Chromosomal Location93885852-93946985 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 93908858 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 70 (T70M)
Ref Sequence ENSEMBL: ENSMUSP00000103486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063645] [ENSMUST00000063718] [ENSMUST00000107850] [ENSMUST00000107852] [ENSMUST00000107853] [ENSMUST00000107854]
Predicted Effect probably damaging
Transcript: ENSMUST00000063645
AA Change: T70M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070248
Gene: ENSMUSG00000059474
AA Change: T70M

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: T92M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
AA Change: T92M

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 damaging
Transcript: ENSMUST00000107850
AA Change: T70M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103482
Gene: ENSMUSG00000059474
AA Change: T70M

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: T70M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103484
Gene: ENSMUSG00000059474
AA Change: T70M

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: T70M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
AA Change: T70M

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: T70M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
AA Change: T70M

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: ENSMUST00000132739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140880
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150237
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
Abca16 G T 7: 120,540,602 A1496S probably damaging Het
Abra A T 15: 41,869,187 V161E probably damaging Het
Adcy4 G A 14: 55,770,047 T942I possibly damaging Het
Atrip A G 9: 109,065,419 V480A probably damaging Het
Azin1 A T 15: 38,491,565 D382E probably benign Het
BC034090 G T 1: 155,225,153 A455E probably benign Het
Clstn1 A G 4: 149,627,359 Y121C probably damaging Het
Cpq T A 15: 33,302,508 N268K probably damaging Het
Cpsf7 A G 19: 10,531,988 S88G probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2j11 G A 4: 96,348,539 A10V possibly damaging Het
Dock4 T C 12: 40,777,207 V983A probably benign Het
Dspp G T 5: 104,177,366 E532* probably null Het
Ercc4 G T 16: 13,123,536 D243Y probably damaging Het
Fars2 C A 13: 36,410,162 D383E probably benign Het
Fip1l1 A G 5: 74,564,544 T280A probably benign Het
Gcgr T G 11: 120,537,184 N292K probably damaging Het
Gtpbp4 T A 13: 8,991,750 K85M possibly damaging Het
Jhy A G 9: 40,910,989 Y618H probably damaging Het
Mbd4 A T 6: 115,849,025 I314N possibly damaging Het
Mki67 T C 7: 135,698,793 H1504R probably benign Het
Mks1 T C 11: 87,862,785 V515A probably benign Het
Msantd2 G T 9: 37,523,459 V332L probably damaging Het
Myrip A T 9: 120,467,532 T836S probably benign Het
Nbea T C 3: 56,086,266 I238V probably benign Het
Plekhh1 T C 12: 79,069,009 probably benign Het
Prkdc A G 16: 15,670,535 N507S probably benign Het
Prss12 G A 3: 123,505,474 V632I possibly damaging Het
Puf60 A G 15: 76,074,609 S121P probably damaging Het
Raet1e G A 10: 22,180,636 C37Y probably damaging Het
Ralgps2 G T 1: 156,828,268 A362E possibly damaging Het
Scn1a A G 2: 66,326,036 S510P possibly damaging Het
Skap2 A C 6: 51,874,473 probably null Het
Slc4a10 G A 2: 62,190,769 V54M probably benign Het
Spata17 A G 1: 187,117,261 probably null Het
Stoml3 T A 3: 53,503,250 N128K probably damaging Het
Tatdn2 T A 6: 113,704,213 S402R probably benign Het
Tmprss11f A G 5: 86,533,666 W243R probably damaging Het
Vmn2r32 A G 7: 7,476,710 Y155H probably benign Het
Vmn2r86 T A 10: 130,448,639 T528S possibly damaging Het
Zfhx3 C T 8: 108,955,742 A3271V unknown Het
Zkscan3 T C 13: 21,388,178 N428S possibly damaging Het
Zxdc A G 6: 90,398,836 S765G probably benign Het
Other mutations in Mbtd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00814:Mbtd1 APN 11 93943840 missense possibly damaging 0.94
IGL00819:Mbtd1 APN 11 93931811 critical splice acceptor site probably null
IGL01140:Mbtd1 APN 11 93924432 missense probably damaging 1.00
IGL01553:Mbtd1 APN 11 93923214 missense probably benign 0.35
IGL01893:Mbtd1 APN 11 93921412 missense probably null
IGL02218:Mbtd1 APN 11 93931803 splice site probably benign
IGL03002:Mbtd1 APN 11 93924490 missense probably benign 0.15
IGL03347:Mbtd1 APN 11 93923179 missense probably benign 0.01
R0027:Mbtd1 UTSW 11 93924549 missense possibly damaging 0.85
R0027:Mbtd1 UTSW 11 93924549 missense possibly damaging 0.85
R0311:Mbtd1 UTSW 11 93921357 splice site probably null
R0513:Mbtd1 UTSW 11 93932212 splice site probably null
R0646:Mbtd1 UTSW 11 93905212 missense probably damaging 1.00
R0734:Mbtd1 UTSW 11 93923146 missense probably damaging 1.00
R0835:Mbtd1 UTSW 11 93931839 missense probably benign 0.23
R1295:Mbtd1 UTSW 11 93910359 missense probably damaging 0.99
R1296:Mbtd1 UTSW 11 93910359 missense probably damaging 0.99
R1996:Mbtd1 UTSW 11 93932396 frame shift probably null
R2157:Mbtd1 UTSW 11 93910388 missense probably benign 0.20
R3977:Mbtd1 UTSW 11 93905175 missense probably benign
R4435:Mbtd1 UTSW 11 93932222 missense probably benign
R4589:Mbtd1 UTSW 11 93921419 missense probably damaging 1.00
R4647:Mbtd1 UTSW 11 93924611 missense probably damaging 1.00
R4824:Mbtd1 UTSW 11 93925702 missense probably benign 0.00
R4919:Mbtd1 UTSW 11 93923148 unclassified probably null
R5045:Mbtd1 UTSW 11 93931815 missense probably benign 0.26
R5095:Mbtd1 UTSW 11 93929671 missense probably damaging 1.00
R5227:Mbtd1 UTSW 11 93924648 missense possibly damaging 0.54
R5619:Mbtd1 UTSW 11 93929879 intron probably null
R6057:Mbtd1 UTSW 11 93929659 missense probably damaging 0.99
R6293:Mbtd1 UTSW 11 93932232 missense possibly damaging 0.79
R6294:Mbtd1 UTSW 11 93932232 missense possibly damaging 0.79
R6295:Mbtd1 UTSW 11 93932232 missense possibly damaging 0.79
R6297:Mbtd1 UTSW 11 93932232 missense possibly damaging 0.79
R6998:Mbtd1 UTSW 11 93924612 missense probably damaging 1.00
R7423:Mbtd1 UTSW 11 93943796 missense probably benign 0.38
R7519:Mbtd1 UTSW 11 93908899 missense probably damaging 1.00
X0024:Mbtd1 UTSW 11 93924549 missense possibly damaging 0.85
Z1177:Mbtd1 UTSW 11 93912459 critical splice donor site probably null
Posted On2015-04-16