Mutagenetix > Incidental Mutation

Incidental Mutation 'R0646:Mbtd1'

57182

Institutional Source

Beutler Lab

Gene Symbol

Mbtd1

Ensembl Gene

ENSMUSG00000059474

Gene Name

mbt domain containing 1

Synonyms

hemp

MMRRC Submission

038831-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0646 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93885852-93946985 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93905212 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 25 (D25G)

Ref Sequence

ENSEMBL: ENSMUSP00000065442 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063645] [ENSMUST00000063718] [ENSMUST00000107850] [ENSMUST00000107852] [ENSMUST00000107853] [ENSMUST00000107854]

AlphaFold

Q6P5G3

Predicted Effect

probably damaging
Transcript: ENSMUST00000063645
AA Change: D3G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070248
Gene: ENSMUSG00000059474
AA Change: D3G

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 damaging
Transcript: ENSMUST00000063718
AA Change: D25G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
AA Change: D25G

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 damaging
Transcript: ENSMUST00000107850
AA Change: D3G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103482
Gene: ENSMUSG00000059474
AA Change: D3G

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 damaging
Transcript: ENSMUST00000107852
AA Change: D3G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103484
Gene: ENSMUSG00000059474
AA Change: D3G

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 damaging
Transcript: ENSMUST00000107853
AA Change: D3G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
AA Change: D3G

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 damaging
Transcript: ENSMUST00000107854
AA Change: D3G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
AA Change: D3G

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: ENSMUST00000127539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145354

Meta Mutation Damage Score

0.0933

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (123/130)

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: 125 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	C	T	11: 23,575,491 (GRCm38)	R716H	probably damaging	Het
4930432E11Rik	C	T	7: 29,561,285 (GRCm38)		noncoding transcript	Het
A430078G23Rik	T	C	8: 3,386,959 (GRCm38)	Y250H	probably damaging	Het
Abcb11	A	G	2: 69,285,283 (GRCm38)	I579T	probably damaging	Het
Abcc9	T	C	6: 142,682,104 (GRCm38)	N400S	probably benign	Het
Adarb2	T	C	13: 8,731,819 (GRCm38)	L577P	probably damaging	Het
Agt	A	C	8: 124,557,113 (GRCm38)	N422K	probably damaging	Het
Ahnak	A	T	19: 9,013,402 (GRCm38)	K4017*	probably null	Het
Akap13	C	A	7: 75,747,746 (GRCm38)	Q2575K	probably damaging	Het
Aldh3a2	A	T	11: 61,253,715 (GRCm38)	I339K	probably damaging	Het
Alox15	G	T	11: 70,345,624 (GRCm38)	Y483*	probably null	Het
Ampd1	A	T	3: 103,099,597 (GRCm38)	I713F	probably damaging	Het
Amph	A	T	13: 19,113,116 (GRCm38)	E344V	possibly damaging	Het
Arid5b	A	G	10: 68,096,977 (GRCm38)	S1032P	probably damaging	Het
Armc8	C	A	9: 99,505,688 (GRCm38)	L393F	probably damaging	Het
Bpnt1	A	G	1: 185,345,426 (GRCm38)		probably null	Het
Cachd1	G	A	4: 100,988,221 (GRCm38)	R970H	probably damaging	Het
Cd207	T	C	6: 83,675,756 (GRCm38)	T131A	probably benign	Het
Cd83	G	A	13: 43,797,533 (GRCm38)	V54I	probably benign	Het
Cfap43	T	C	19: 47,763,676 (GRCm38)	K1086E	probably benign	Het
Cfap65	A	T	1: 74,902,169 (GRCm38)	V1837E	probably benign	Het
Clcnka	T	A	4: 141,396,606 (GRCm38)	H89L	probably benign	Het
Cnga4	T	C	7: 105,404,975 (GRCm38)	I50T	possibly damaging	Het
Cog5	A	G	12: 31,837,359 (GRCm38)		probably benign	Het
Col11a2	T	A	17: 34,059,348 (GRCm38)		probably null	Het
Col28a1	T	G	6: 8,175,291 (GRCm38)	I186L	possibly damaging	Het
Col4a2	T	A	8: 11,431,252 (GRCm38)	M808K	probably benign	Het
Copb2	A	G	9: 98,563,475 (GRCm38)		probably benign	Het
Dbnl	G	A	11: 5,795,441 (GRCm38)		probably benign	Het
Dbx2	T	C	15: 95,654,612 (GRCm38)	T51A	possibly damaging	Het
Dcp1a	A	T	14: 30,502,885 (GRCm38)	M123L	probably damaging	Het
Ddx42	T	A	11: 106,232,833 (GRCm38)	F217I	probably benign	Het
Dlc1	T	C	8: 36,858,051 (GRCm38)	T367A	probably benign	Het
Dmgdh	A	T	13: 93,752,355 (GRCm38)	T834S	probably benign	Het
Dnah8	T	C	17: 30,684,173 (GRCm38)	S929P	probably damaging	Het
Dnase1l2	C	A	17: 24,441,082 (GRCm38)	V271L	possibly damaging	Het
Dsc1	T	C	18: 20,096,057 (GRCm38)	Y392C	probably damaging	Het
Edn1	T	C	13: 42,305,242 (GRCm38)		probably benign	Het
Eps8l3	T	C	3: 107,884,810 (GRCm38)	L351P	probably damaging	Het
F12	G	A	13: 55,422,483 (GRCm38)		probably benign	Het
Fam47e	T	C	5: 92,578,458 (GRCm38)		probably benign	Het
Fcrl5	C	A	3: 87,442,013 (GRCm38)	Q32K	probably benign	Het
Fndc1	C	T	17: 7,741,673 (GRCm38)	V1637I	possibly damaging	Het
Foxg1	G	T	12: 49,384,567 (GRCm38)		probably benign	Het
Frrs1	A	T	3: 116,902,421 (GRCm38)	I530F	possibly damaging	Het
Galnt5	A	T	2: 57,999,085 (GRCm38)	K232N	probably benign	Het
Ggt5	G	A	10: 75,602,648 (GRCm38)	V68M	probably damaging	Het
Gm11639	G	A	11: 104,720,501 (GRCm38)	D390N	probably benign	Het
Gm13084	A	C	4: 143,812,585 (GRCm38)	S113A	possibly damaging	Het
Gm16519	T	C	17: 70,929,106 (GRCm38)	C17R	probably benign	Het
Gm17535	A	G	9: 3,035,804 (GRCm38)	Y224C	probably null	Het
Gm884	T	A	11: 103,613,160 (GRCm38)	K485*	probably null	Het
Gm9631	T	G	11: 121,945,629 (GRCm38)	D28A	probably damaging	Het
Gpx2	T	C	12: 76,795,313 (GRCm38)	I21M	probably benign	Het
H2-Q2	T	G	17: 35,345,685 (GRCm38)	D354E	probably damaging	Het
Icam2	A	T	11: 106,380,891 (GRCm38)	I71K	probably damaging	Het
Il12a	T	C	3: 68,697,890 (GRCm38)		probably benign	Het
Insm2	C	G	12: 55,600,440 (GRCm38)	A323G	probably benign	Het
Itga1	T	C	13: 114,968,299 (GRCm38)	T1064A	probably benign	Het
Itgad	T	A	7: 128,174,004 (GRCm38)	V11E	possibly damaging	Het
Kctd15	C	T	7: 34,644,881 (GRCm38)	S115N	probably damaging	Het
Klra5	A	G	6: 129,903,564 (GRCm38)	W124R	probably damaging	Het
Kng2	T	A	16: 22,987,736 (GRCm38)	D571V	probably benign	Het
Kpna6	A	T	4: 129,650,790 (GRCm38)	F380I	probably benign	Het
Lipo1	A	T	19: 33,784,769 (GRCm38)	Y109*	probably null	Het
Man2a2	T	C	7: 80,363,197 (GRCm38)	H540R	possibly damaging	Het
Map2k4	T	C	11: 65,712,275 (GRCm38)	E188G	probably damaging	Het
Mast4	T	C	13: 102,758,744 (GRCm38)		probably benign	Het
Med13	T	A	11: 86,331,089 (GRCm38)	Q238L	possibly damaging	Het
Mmachc	A	G	4: 116,703,654 (GRCm38)	Y215H	probably damaging	Het
Mtor	T	A	4: 148,484,354 (GRCm38)	Y1110*	probably null	Het
Nek2	A	G	1: 191,822,219 (GRCm38)	N57D	probably damaging	Het
Nek7	ACCCC	ACCC	1: 138,515,693 (GRCm38)		probably null	Het
Neo1	G	T	9: 58,931,034 (GRCm38)	T489K	probably damaging	Het
Neu1	T	A	17: 34,934,760 (GRCm38)	Y387N	probably damaging	Het
Nfasc	A	T	1: 132,608,438 (GRCm38)	C586*	probably null	Het
Nle1	G	A	11: 82,904,845 (GRCm38)	L259F	probably damaging	Het
Nrde2	G	A	12: 100,143,846 (GRCm38)	Q309*	probably null	Het
Nufip2	C	T	11: 77,686,453 (GRCm38)	H76Y	probably benign	Het
Olfr1330	A	C	4: 118,893,490 (GRCm38)	T136P	probably damaging	Het
Olfr1383	A	T	11: 49,524,578 (GRCm38)	N285I	probably damaging	Het
Olfr466	A	T	13: 65,153,063 (GRCm38)	I280F	probably damaging	Het
Olfr584	T	C	7: 103,086,151 (GRCm38)	F206S	probably damaging	Het
Olfr670	A	T	7: 104,959,811 (GRCm38)	I307N	probably benign	Het
Olfr731	A	T	14: 50,238,639 (GRCm38)	I82N	probably damaging	Het
Pcdhb5	A	G	18: 37,321,622 (GRCm38)	T352A	probably benign	Het
Pcdhb7	A	T	18: 37,343,389 (GRCm38)	D526V	probably damaging	Het
Phkg1	A	T	5: 129,864,553 (GRCm38)		probably null	Het
Plg	C	T	17: 12,418,736 (GRCm38)	T744M	probably damaging	Het
Plxnd1	A	C	6: 115,958,699 (GRCm38)		probably benign	Het
Poglut1	A	T	16: 38,529,475 (GRCm38)	I312N	probably damaging	Het
Ppp1r16a	C	T	15: 76,690,799 (GRCm38)		probably benign	Het
Ppt1	A	G	4: 122,844,099 (GRCm38)	M77V	probably benign	Het
Pramel5	G	T	4: 144,271,620 (GRCm38)	T351N	probably damaging	Het
Psmb4	G	A	3: 94,884,964 (GRCm38)	R216C	probably benign	Het
Ptprd	T	C	4: 76,084,403 (GRCm38)	T699A	probably damaging	Het
Retreg3	A	T	11: 101,098,629 (GRCm38)		probably benign	Het
Scaper	G	A	9: 55,758,056 (GRCm38)	A389V	probably damaging	Het
Serinc5	G	A	13: 92,688,737 (GRCm38)	D225N	possibly damaging	Het
Slco1a1	T	G	6: 141,925,754 (GRCm38)		probably benign	Het
Snapc1	C	T	12: 73,975,032 (GRCm38)	R81C	probably damaging	Het
Sod3	A	T	5: 52,368,079 (GRCm38)	D40V	probably benign	Het
Sorcs3	C	A	19: 48,206,295 (GRCm38)	A39E	probably benign	Het
Spon1	A	T	7: 114,039,821 (GRCm38)	T761S	probably benign	Het
Syde2	A	G	3: 146,014,249 (GRCm38)		probably null	Het
Synm	T	A	7: 67,759,168 (GRCm38)	D154V	probably benign	Het
Synpo2	T	C	3: 123,114,449 (GRCm38)	E406G	probably damaging	Het
Tcea3	T	A	4: 136,248,071 (GRCm38)	L8*	probably null	Het
Tec	G	A	5: 72,823,497 (GRCm38)	L33F	probably damaging	Het
Tex15	T	A	8: 33,582,326 (GRCm38)	S2634T	possibly damaging	Het
Tg	T	A	15: 66,729,626 (GRCm38)	Y162N	probably damaging	Het
Tmem8b	G	A	4: 43,690,123 (GRCm38)	V853I	probably benign	Het
Togaram1	A	G	12: 65,021,466 (GRCm38)	K1748E	probably damaging	Het
Ttn	T	C	2: 76,898,478 (GRCm38)		probably benign	Het
Usp36	C	T	11: 118,273,021 (GRCm38)	D234N	probably damaging	Het
Usp40	G	A	1: 87,978,522 (GRCm38)	P664S	probably benign	Het
Vmn1r54	T	A	6: 90,269,653 (GRCm38)	L183H	probably benign	Het
Vmn1r58	T	G	7: 5,410,677 (GRCm38)	I185L	probably benign	Het
Wnt8a	A	T	18: 34,547,565 (GRCm38)	R328W	probably benign	Het
Yars	A	G	4: 129,213,939 (GRCm38)		probably benign	Het
Zbtb49	A	C	5: 38,200,674 (GRCm38)	M745R	probably damaging	Het
Zeb1	T	G	18: 5,759,027 (GRCm38)	F162V	probably damaging	Het
Zfp369	A	T	13: 65,297,548 (GRCm38)	H835L	probably damaging	Het
Zic5	A	G	14: 122,463,939 (GRCm38)	V460A	unknown	Het
Zp3	A	G	5: 135,984,356 (GRCm38)	N181D	possibly damaging	Het

Other mutations in Mbtd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00814:Mbtd1	APN	11	93,943,840 (GRCm38)	missense	possibly damaging	0.94
IGL00819:Mbtd1	APN	11	93,931,811 (GRCm38)	critical splice acceptor site	probably null
IGL01140:Mbtd1	APN	11	93,924,432 (GRCm38)	missense	probably damaging	1.00
IGL01553:Mbtd1	APN	11	93,923,214 (GRCm38)	missense	probably benign	0.35
IGL01893:Mbtd1	APN	11	93,921,412 (GRCm38)	missense	probably null
IGL02218:Mbtd1	APN	11	93,931,803 (GRCm38)	splice site	probably benign
IGL02406:Mbtd1	APN	11	93,908,858 (GRCm38)	missense	probably damaging	1.00
IGL03002:Mbtd1	APN	11	93,924,490 (GRCm38)	missense	probably benign	0.15
IGL03347:Mbtd1	APN	11	93,923,179 (GRCm38)	missense	probably benign	0.01
R0027:Mbtd1	UTSW	11	93,924,549 (GRCm38)	missense	possibly damaging	0.85
R0027:Mbtd1	UTSW	11	93,924,549 (GRCm38)	missense	possibly damaging	0.85
R0311:Mbtd1	UTSW	11	93,921,357 (GRCm38)	splice site	probably null
R0513:Mbtd1	UTSW	11	93,932,212 (GRCm38)	splice site	probably null
R0734:Mbtd1	UTSW	11	93,923,146 (GRCm38)	missense	probably damaging	1.00
R0835:Mbtd1	UTSW	11	93,931,839 (GRCm38)	missense	probably benign	0.23
R1295:Mbtd1	UTSW	11	93,910,359 (GRCm38)	missense	probably damaging	0.99
R1296:Mbtd1	UTSW	11	93,910,359 (GRCm38)	missense	probably damaging	0.99
R1996:Mbtd1	UTSW	11	93,932,396 (GRCm38)	frame shift	probably null
R2157:Mbtd1	UTSW	11	93,910,388 (GRCm38)	missense	probably benign	0.20
R3977:Mbtd1	UTSW	11	93,905,175 (GRCm38)	missense	probably benign
R4435:Mbtd1	UTSW	11	93,932,222 (GRCm38)	missense	probably benign
R4589:Mbtd1	UTSW	11	93,921,419 (GRCm38)	missense	probably damaging	1.00
R4647:Mbtd1	UTSW	11	93,924,611 (GRCm38)	missense	probably damaging	1.00
R4824:Mbtd1	UTSW	11	93,925,702 (GRCm38)	missense	probably benign	0.00
R4919:Mbtd1	UTSW	11	93,923,148 (GRCm38)	splice site	probably null
R5045:Mbtd1	UTSW	11	93,931,815 (GRCm38)	missense	probably benign	0.26
R5095:Mbtd1	UTSW	11	93,929,671 (GRCm38)	missense	probably damaging	1.00
R5227:Mbtd1	UTSW	11	93,924,648 (GRCm38)	missense	possibly damaging	0.54
R5619:Mbtd1	UTSW	11	93,929,879 (GRCm38)	splice site	probably null
R6057:Mbtd1	UTSW	11	93,929,659 (GRCm38)	missense	probably damaging	0.99
R6293:Mbtd1	UTSW	11	93,932,232 (GRCm38)	missense	possibly damaging	0.79
R6294:Mbtd1	UTSW	11	93,932,232 (GRCm38)	missense	possibly damaging	0.79
R6295:Mbtd1	UTSW	11	93,932,232 (GRCm38)	missense	possibly damaging	0.79
R6297:Mbtd1	UTSW	11	93,932,232 (GRCm38)	missense	possibly damaging	0.79
R6998:Mbtd1	UTSW	11	93,924,612 (GRCm38)	missense	probably damaging	1.00
R7423:Mbtd1	UTSW	11	93,943,796 (GRCm38)	missense	probably benign	0.38
R7519:Mbtd1	UTSW	11	93,908,899 (GRCm38)	missense	probably damaging	1.00
R8250:Mbtd1	UTSW	11	93,910,350 (GRCm38)	missense	probably damaging	1.00
R9180:Mbtd1	UTSW	11	93,932,392 (GRCm38)	missense	probably damaging	1.00
R9181:Mbtd1	UTSW	11	93,912,415 (GRCm38)	missense	probably benign
R9215:Mbtd1	UTSW	11	93,943,802 (GRCm38)	missense	possibly damaging	0.67
R9446:Mbtd1	UTSW	11	93,943,682 (GRCm38)	missense	unknown
R9474:Mbtd1	UTSW	11	93,925,685 (GRCm38)	missense	probably benign
R9575:Mbtd1	UTSW	11	93,908,938 (GRCm38)	critical splice donor site	probably null
R9696:Mbtd1	UTSW	11	93,932,392 (GRCm38)	missense	probably damaging	1.00
X0024:Mbtd1	UTSW	11	93,924,549 (GRCm38)	missense	possibly damaging	0.85
Z1177:Mbtd1	UTSW	11	93,912,459 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTCTCAGAAGGCTTAAGGCCAG -3'
(R):5'- AGTCACACAACAGGTCAAAGTGCAG -3'

Sequencing Primer
(F):5'- gcaggcaaaacacccatac -3'
(R):5'- AGGTCAAAGTGCAGACACTC -3'

Posted On

2013-07-11