Mutagenetix > Incidental Mutation

Incidental Mutation 'R0835:Mbtd1'

77839

Institutional Source

Beutler Lab

Gene Symbol

Mbtd1

Ensembl Gene

ENSMUSG00000059474

Gene Name

mbt domain containing 1

Synonyms

hemp

MMRRC Submission

039014-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93776678-93837811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93822665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 492 (F492I)

Ref Sequence

ENSEMBL: ENSMUSP00000065442 (fasta)

Gene Model

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

AlphaFold

Q6P5G3

Predicted Effect

probably benign
Transcript: ENSMUST00000063645

SMART Domains

Protein: ENSMUSP00000070248
Gene: ENSMUSG00000059474

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: F492I

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
AA Change: F492I

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

silent
Transcript: ENSMUST00000107852

SMART Domains

Protein: ENSMUSP00000103484
Gene: ENSMUSG00000059474

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: F470I

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
AA Change: F470I

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: F470I

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
AA Change: F470I

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: ENSMUST00000150237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155841

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.2%
20x: 90.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	G	T	6: 146,855,036 (GRCm39)		probably benign	Het
Abca16	A	G	7: 120,065,007 (GRCm39)	T555A	probably benign	Het
Abca4	A	T	3: 121,919,862 (GRCm39)	D1048V	probably damaging	Het
Abcf2	G	T	5: 24,779,251 (GRCm39)	T99N	probably damaging	Het
Acan	A	T	7: 78,763,980 (GRCm39)	S2119C	probably damaging	Het
Adgre4	G	A	17: 56,106,637 (GRCm39)	C292Y	probably damaging	Het
Alk	A	G	17: 72,176,837 (GRCm39)	F1489S	probably damaging	Het
Ampd2	A	G	3: 107,983,818 (GRCm39)	V573A	possibly damaging	Het
Aoc1	T	C	6: 48,882,448 (GRCm39)	F130S	probably damaging	Het
Bbs2	A	T	8: 94,801,887 (GRCm39)	I554N	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cbfa2t3	T	C	8: 123,374,517 (GRCm39)	H76R	probably benign	Het
Cdc14a	G	T	3: 116,122,171 (GRCm39)	N216K	probably benign	Het
Cep126	T	C	9: 8,130,224 (GRCm39)	Y69C	probably damaging	Het
Cep135	A	T	5: 76,763,553 (GRCm39)	R514S	probably benign	Het
Cfi	A	T	3: 129,662,191 (GRCm39)	Y390F	probably damaging	Het
Chd8	T	C	14: 52,441,482 (GRCm39)	D870G	probably benign	Het
Clptm1	A	G	7: 19,369,599 (GRCm39)	V437A	possibly damaging	Het
Coro2b	T	C	9: 62,333,119 (GRCm39)	N422S	possibly damaging	Het
Coro7	T	C	16: 4,450,118 (GRCm39)	E577G	probably benign	Het
Crh	G	A	3: 19,748,528 (GRCm39)	P38L	probably benign	Het
Ctif	T	A	18: 75,568,407 (GRCm39)	D577V	probably damaging	Het
Deup1	T	A	9: 15,511,047 (GRCm39)	Q244L	probably damaging	Het
Dhx16	A	G	17: 36,192,581 (GRCm39)	E171G	probably damaging	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Dync1i2	C	T	2: 71,081,316 (GRCm39)	L508F	probably damaging	Het
Dync2h1	T	A	9: 7,116,642 (GRCm39)		probably null	Het
E2f4	C	T	8: 106,027,140 (GRCm39)	Q235*	probably null	Het
Eif2b3	A	G	4: 116,916,002 (GRCm39)	H203R	probably damaging	Het
Epha5	A	T	5: 84,534,101 (GRCm39)	W77R	probably damaging	Het
Gpx6	C	T	13: 21,501,238 (GRCm39)	P109S	probably damaging	Het
Gsdmc4	A	T	15: 63,765,649 (GRCm39)	V300E	probably damaging	Het
Gspt1	A	C	16: 11,056,802 (GRCm39)	S198A	probably benign	Het
Ift70a2	T	C	2: 75,808,494 (GRCm39)	N6S	probably benign	Het
Itpk1	C	T	12: 102,641,707 (GRCm39)	V39M	probably damaging	Het
Kremen2	G	T	17: 23,961,811 (GRCm39)	P232Q	probably damaging	Het
Lamtor4	C	A	5: 138,257,320 (GRCm39)	T74K	probably benign	Het
Mroh1	G	T	15: 76,336,083 (GRCm39)	V1486F	probably damaging	Het
Myg1	G	A	15: 102,240,537 (GRCm39)	V76M	probably damaging	Het
Myo16	G	T	8: 10,322,766 (GRCm39)	Q65H	probably damaging	Het
Ncapg	A	G	5: 45,838,790 (GRCm39)	E487G	probably damaging	Het
Ncoa5	T	C	2: 164,844,714 (GRCm39)	E332G	probably damaging	Het
Nek6	T	A	2: 38,459,643 (GRCm39)	I162N	possibly damaging	Het
Nwd2	C	A	5: 63,957,473 (GRCm39)	R268S	probably damaging	Het
Or4c11	T	C	2: 88,695,345 (GRCm39)	V132A	probably benign	Het
Or9a7	T	C	6: 40,521,272 (GRCm39)	I214V	probably benign	Het
Palm3	T	G	8: 84,754,776 (GRCm39)	S141A	probably benign	Het
Pbrm1	T	C	14: 30,789,536 (GRCm39)	F728L	probably damaging	Het
Phf3	A	G	1: 30,869,632 (GRCm39)	V472A	probably benign	Het
Plekha5	T	A	6: 140,514,576 (GRCm39)	L35*	probably null	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ppp6r2	G	A	15: 89,152,785 (GRCm39)	E309K	possibly damaging	Het
Ptpn6	T	A	6: 124,704,499 (GRCm39)		probably null	Het
Rasgrf1	T	C	9: 89,882,824 (GRCm39)	V882A	probably benign	Het
Ryr3	T	G	2: 112,480,483 (GRCm39)	E4335D	probably benign	Het
Slc12a5	T	A	2: 164,835,958 (GRCm39)	I892N	probably damaging	Het
Slc22a2	G	A	17: 12,831,318 (GRCm39)	M369I	probably benign	Het
Sox10	A	T	15: 79,040,641 (GRCm39)	Y300N	probably damaging	Het
Speg	T	C	1: 75,352,318 (GRCm39)	F79L	probably benign	Het
Sult1b1	T	A	5: 87,665,311 (GRCm39)	I208L	probably benign	Het
Syt9	A	G	7: 107,105,737 (GRCm39)	N460S	probably benign	Het
Tecpr1	T	A	5: 144,149,410 (GRCm39)	N339I	possibly damaging	Het
Tmem63b	C	A	17: 45,971,870 (GRCm39)	D782Y	possibly damaging	Het
Ttn	T	C	2: 76,725,105 (GRCm39)		probably benign	Het
Upk3bl	G	T	5: 136,086,185 (GRCm39)	R40S	probably benign	Het
Usp28	T	C	9: 48,912,824 (GRCm39)	I25T	probably damaging	Het
Vmn2r27	A	G	6: 124,177,583 (GRCm39)	Y474H	probably damaging	Het
Vps13a	A	T	19: 16,712,246 (GRCm39)		probably null	Het
Wdr36	A	T	18: 32,982,135 (GRCm39)	N371I	possibly damaging	Het
Wnt7b	A	G	15: 85,421,978 (GRCm39)	F228S	probably damaging	Het
Xirp2	T	C	2: 67,338,254 (GRCm39)	I165T	possibly damaging	Het
Zan	T	G	5: 137,406,659 (GRCm39)		probably benign	Het
Zfp760	A	G	17: 21,942,559 (GRCm39)	D578G	possibly damaging	Het
Zfyve19	T	A	2: 119,041,266 (GRCm39)	S61T	probably benign	Het
Zfyve9	T	C	4: 108,575,866 (GRCm39)	D405G	probably damaging	Het

Other mutations in Mbtd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00814:Mbtd1	APN	11	93,834,666 (GRCm39)	missense	possibly damaging	0.94
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
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

Predicted Primers

PCR Primer
(F):5'- CACGGCAGAAGTCTGTCCTTGTAG -3'
(R):5'- GTTCCTCAGTTATCCCACCACATGG -3'

Sequencing Primer
(F):5'- ggagacaaaaggactaaggagg -3'
(R):5'- tcactcacactcacacacac -3'

Posted On

2013-10-16