Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00814:Mbtd1'

11920

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 #

IGL00814

Quality Score

Status

Chromosome

Chromosomal Location

93776678-93837811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93834666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 615 (S615T)

Ref Sequence

ENSEMBL: ENSMUSP00000103486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063718] [ENSMUST00000107853] [ENSMUST00000107854]

AlphaFold

Q6P5G3

Predicted Effect

probably benign
Transcript: ENSMUST00000063718

SMART Domains

Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000107853
AA Change: S615T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
AA Change: S615T

Domain	Start	End	E-Value	Type
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: S615T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
AA Change: S615T

Domain	Start	End	E-Value	Type
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

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cops6	G	T	5: 138,161,640 (GRCm39)	R58L	probably damaging	Het
Elmo1	T	A	13: 20,470,894 (GRCm39)	M262K	probably damaging	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Gria4	A	T	9: 4,472,202 (GRCm39)	M429K	probably damaging	Het
Hipk2	G	A	6: 38,795,484 (GRCm39)	R262W	probably damaging	Het
Kif23	A	T	9: 61,844,389 (GRCm39)	I143K	possibly damaging	Het
Nlrp9c	C	T	7: 26,084,175 (GRCm39)	S468N	probably benign	Het
Nt5c2	A	T	19: 46,886,087 (GRCm39)	D212E	probably benign	Het
Or52e19	A	T	7: 102,959,014 (GRCm39)	I29L	probably benign	Het
Pck2	T	C	14: 55,785,756 (GRCm39)		probably benign	Het
Pdcd6ip	T	C	9: 113,516,721 (GRCm39)	Q230R	probably damaging	Het
Pomk	T	C	8: 26,473,624 (GRCm39)	T110A	probably benign	Het
Psg23	C	T	7: 18,348,608 (GRCm39)	W66*	probably null	Het
Rnf144b	T	C	13: 47,373,964 (GRCm39)		probably benign	Het
Sppl2c	G	A	11: 104,077,805 (GRCm39)	G202S	possibly damaging	Het
Thnsl2	A	C	6: 71,116,867 (GRCm39)	L95R	probably damaging	Het
Ttn	A	G	2: 76,637,511 (GRCm39)	V12248A	probably benign	Het

Other mutations in Mbtd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06