Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00814

Quality Score

Status

Chromosome

Chromosomal Location

93885852-93946985 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93943840 bp

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]

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: 138,163,378	R58L	probably damaging	Het
Elmo1	T	A	13: 20,286,724	M262K	probably damaging	Het
Faim	G	A	9: 98,992,165	G15R	probably damaging	Het
Gria4	A	T	9: 4,472,202	M429K	probably damaging	Het
Hipk2	G	A	6: 38,818,549	R262W	probably damaging	Het
Kif23	A	T	9: 61,937,107	I143K	possibly damaging	Het
Nlrp9c	C	T	7: 26,384,750	S468N	probably benign	Het
Nt5c2	A	T	19: 46,897,648	D212E	probably benign	Het
Olfr596	A	T	7: 103,309,807	I29L	probably benign	Het
Pck2	T	C	14: 55,548,299		probably benign	Het
Pdcd6ip	T	C	9: 113,687,653	Q230R	probably damaging	Het
Pomk	T	C	8: 25,983,596	T110A	probably benign	Het
Psg23	C	T	7: 18,614,683	W66*	probably null	Het
Rnf144b	T	C	13: 47,220,488		probably benign	Het
Sppl2c	G	A	11: 104,186,979	G202S	possibly damaging	Het
Thnsl2	A	C	6: 71,139,883	L95R	probably damaging	Het
Ttn	A	G	2: 76,807,167	V12248A	probably benign	Het

Other mutations in Mbtd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02406:Mbtd1	APN	11	93908858	missense	probably damaging	1.00
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	splice site	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	splice site	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
R8250:Mbtd1	UTSW	11	93910350	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 On

2012-12-06