Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03002:Mbtd1'

407399

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 #

IGL03002

Quality Score

Status

Chromosome

Chromosomal Location

93885852-93946985 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93924490 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 301 (H301Q)

Ref Sequence

ENSEMBL: ENSMUSP00000070248 (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: H301Q

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000070248
Gene: ENSMUSG00000059474
AA Change: H301Q

Domain	Start	End	E-Value	Type
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: H323Q

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
AA Change: H323Q

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

probably benign
Transcript: ENSMUST00000107850

SMART Domains

Protein: ENSMUSP00000103482
Gene: ENSMUSG00000059474

Domain	Start	End	E-Value	Type
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: H301Q

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103484
Gene: ENSMUSG00000059474
AA Change: H301Q

Domain	Start	End	E-Value	Type
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: H301Q

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
AA Change: H301Q

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

probably benign
Transcript: ENSMUST00000107854
AA Change: H301Q

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
AA Change: H301Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155841

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	T	C	1: 66,836,969	I398V	probably benign	Het
Adcy4	A	T	14: 55,773,556	C635S	probably benign	Het
Asic4	C	A	1: 75,451,323	D164E	possibly damaging	Het
C8g	T	A	2: 25,498,811	*203L	probably null	Het
Cad	T	C	5: 31,054,986	V11A	probably benign	Het
Cckar	T	C	5: 53,702,905	N194S	probably damaging	Het
Cdc123	T	C	2: 5,798,355		probably benign	Het
Chrm5	T	C	2: 112,480,361	T137A	probably damaging	Het
Cyp1a1	A	G	9: 57,702,441		probably benign	Het
Dapk3	G	T	10: 81,190,603	E187*	probably null	Het
Dmtf1	T	C	5: 9,140,474	E80G	probably damaging	Het
Dusp19	T	A	2: 80,630,935	N189K	probably damaging	Het
Gfral	A	G	9: 76,197,238	V164A	possibly damaging	Het
Hk1	A	T	10: 62,271,799	V799E	probably damaging	Het
Iars2	C	T	1: 185,322,816		probably null	Het
Jcad	T	A	18: 4,675,153	Y972N	probably benign	Het
Lrp1	A	T	10: 127,589,636	D708E	probably damaging	Het
Med12	A	G	X: 101,295,855	T2004A	probably benign	Het
Mib1	T	C	18: 10,798,356	I739T	possibly damaging	Het
Mthfsd	C	T	8: 121,108,279		probably benign	Het
Mybpc3	T	G	2: 91,123,889	F369C	probably damaging	Het
Nfatc2	C	T	2: 168,534,984	V329M	probably damaging	Het
Ngef	A	T	1: 87,509,392		probably null	Het
Nlrp1b	T	C	11: 71,168,859	E759G	probably benign	Het
Olfr432	C	A	1: 174,050,625	T84N	probably benign	Het
Prdm4	T	C	10: 85,893,152	E790G	probably benign	Het
Psmd12	A	G	11: 107,485,781	D81G	probably benign	Het
Rnf144b	A	G	13: 47,242,883	H232R	probably damaging	Het
Sec63	C	T	10: 42,810,909	T475M	possibly damaging	Het
Slc16a4	A	T	3: 107,300,786	N204I	probably benign	Het
Socs1	T	C	16: 10,784,540	N111S	probably damaging	Het
Srpr	A	G	9: 35,214,721	N432D	probably damaging	Het
Srrm2	A	G	17: 23,815,734		probably benign	Het
Svs1	A	G	6: 48,987,118	H20R	probably benign	Het
Tgoln1	A	G	6: 72,616,072	S142P	possibly damaging	Het
Trbv13-1	A	G	6: 41,116,235	N34S	probably benign	Het
Vmn2r26	T	C	6: 124,039,795	V406A	possibly damaging	Het
Vsig1	G	T	X: 140,926,339	G79V	probably damaging	Het

Other mutations in Mbtd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02406:Mbtd1	APN	11	93908858	missense	probably damaging	1.00
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
R9180:Mbtd1	UTSW	11	93932392	missense	probably damaging	1.00
R9181:Mbtd1	UTSW	11	93912415	missense	probably benign
R9215:Mbtd1	UTSW	11	93943802	missense	possibly damaging	0.67
R9446:Mbtd1	UTSW	11	93943682	missense	unknown
R9474:Mbtd1	UTSW	11	93925685	missense	probably benign
R9575:Mbtd1	UTSW	11	93908938	critical splice donor site	probably null
R9696:Mbtd1	UTSW	11	93932392	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

2016-08-02