Mutagenetix > Incidental Mutation

Incidental Mutation 'R9180:Mbtd1'

696978

Institutional Source

Beutler Lab

Gene Symbol

Mbtd1

Ensembl Gene

ENSMUSG00000059474

Gene Name

mbt domain containing 1

Synonyms

hemp

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9180 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93776678-93837811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93823218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 568 (D568G)

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 damaging
Transcript: ENSMUST00000063718
AA Change: D568G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
AA Change: D568G

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: 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 damaging
Transcript: ENSMUST00000107853
AA Change: D546G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
AA Change: D546G

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: D546G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
AA Change: D546G

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	G	A	3: 137,889,470 (GRCm39)	P49L	probably benign	Het
Adam34l	T	A	8: 44,079,970 (GRCm39)	R85*	probably null	Het
Anapc2	C	T	2: 25,163,303 (GRCm39)	T180I	probably benign	Het
Ankib1	A	T	5: 3,756,276 (GRCm39)	H556Q	probably damaging	Het
Aox1	A	T	1: 58,378,777 (GRCm39)	K1009*	probably null	Het
Apob	C	T	12: 8,047,925 (GRCm39)	P968L	probably damaging	Het
Bpi	T	A	2: 158,116,608 (GRCm39)	F335Y	probably benign	Het
Cabcoco1	T	C	10: 68,272,719 (GRCm39)	Y222C	probably damaging	Het
Camk2b	G	T	11: 5,939,332 (GRCm39)	C273*	probably null	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Cenpb	C	T	2: 131,021,463 (GRCm39)	G112S	probably damaging	Het
Col6a5	A	G	9: 105,739,178 (GRCm39)	L2585P	probably damaging	Het
Cop1	A	G	1: 159,147,339 (GRCm39)	E555G	probably damaging	Het
Coro1b	T	C	19: 4,203,392 (GRCm39)	V411A	probably benign	Het
Cyfip2	G	A	11: 46,176,920 (GRCm39)	R87C	probably damaging	Het
Dthd1	A	C	5: 63,045,410 (GRCm39)	I725L	probably benign	Het
Dydc1	A	C	14: 40,800,054 (GRCm39)	E20A	probably damaging	Het
Ermp1	T	C	19: 29,609,845 (GRCm39)	I317V	probably benign	Het
Fat4	A	G	3: 38,942,556 (GRCm39)	N483S	possibly damaging	Het
Fbxo33	A	G	12: 59,251,095 (GRCm39)		probably null	Het
Fcgbp	G	T	7: 27,803,198 (GRCm39)	E1601*	probably null	Het
Fer1l5	A	T	1: 36,449,999 (GRCm39)	S1118C	probably null	Het
Fer1l6	T	C	15: 58,494,230 (GRCm39)	V1141A	probably benign	Het
Flnb	C	T	14: 7,818,219 (GRCm38)	T23M	probably damaging	Het
Fsip2	T	C	2: 82,815,574 (GRCm39)	L3769P	possibly damaging	Het
Gna11	T	C	10: 81,370,942 (GRCm39)	K98R		Het
Gpat3	A	T	5: 101,032,230 (GRCm39)	T176S	probably benign	Het
Gprc5b	A	G	7: 118,583,542 (GRCm39)	L109P	probably damaging	Het
Hadha	A	T	5: 30,340,038 (GRCm39)	N246K	probably benign	Het
Haus3	G	A	5: 34,324,835 (GRCm39)	Q275*	probably null	Het
Higd1b	A	G	11: 102,728,090 (GRCm39)	Y44C	possibly damaging	Het
Igkv1-131	T	C	6: 67,743,218 (GRCm39)	K55R	probably benign	Het
Igtp	G	T	11: 58,098,091 (GRCm39)	E421*	probably null	Het
Kcnk3	G	T	5: 30,745,532 (GRCm39)		probably benign	Het
Krtap4-13	A	T	11: 99,700,165 (GRCm39)	C165S	unknown	Het
Lrfn4	T	C	19: 4,663,353 (GRCm39)	R394G	probably benign	Het
Lrrc7	A	C	3: 157,867,011 (GRCm39)	L910R	possibly damaging	Het
Mettl16	T	A	11: 74,693,826 (GRCm39)	I279N	probably benign	Het
Mmrn2	A	G	14: 34,121,158 (GRCm39)	H676R	probably benign	Het
Mrgprg	T	C	7: 143,318,350 (GRCm39)	K254R	probably benign	Het
Muc16	A	C	9: 18,554,038 (GRCm39)	V4085G	unknown	Het
Mvp	T	C	7: 126,591,822 (GRCm39)	Q456R	probably benign	Het
Myf6	T	C	10: 107,329,318 (GRCm39)	D209G	probably benign	Het
Ociad1	A	G	5: 73,467,725 (GRCm39)	D167G	probably benign	Het
Or11l3	A	G	11: 58,516,062 (GRCm39)	L270P	probably benign	Het
Or1l4	A	G	2: 37,091,292 (GRCm39)	D13G	probably benign	Het
Or51f23b	T	A	7: 102,402,734 (GRCm39)	Y134F	probably damaging	Het
Or5m3	T	G	2: 85,838,325 (GRCm39)	D68E	probably damaging	Het
Or6c1b	T	C	10: 129,272,858 (GRCm39)	F59S	probably damaging	Het
Phf20	A	G	2: 156,114,537 (GRCm39)	D295G	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp1r13b	A	T	12: 111,811,416 (GRCm39)	H157Q	probably benign	Het
Prss3b	A	G	6: 41,008,681 (GRCm39)	L211P	probably damaging	Het
Rbm26	C	T	14: 105,391,039 (GRCm39)	R149H	unknown	Het
Reg3d	C	T	6: 78,355,443 (GRCm39)	C16Y	possibly damaging	Het
Rrp36	A	G	17: 46,978,980 (GRCm39)	F193L	possibly damaging	Het
Rtca	A	T	3: 116,282,905 (GRCm39)	M361K	probably benign	Het
Ryr3	T	G	2: 112,491,981 (GRCm39)	D3790A	probably damaging	Het
Serpina3n	C	A	12: 104,377,440 (GRCm39)	A231E	probably benign	Het
Sh2d2a	A	G	3: 87,759,070 (GRCm39)	D224G	possibly damaging	Het
Sh3bp2	A	T	5: 34,718,377 (GRCm39)	K526*	probably null	Het
Slc12a2	A	G	18: 58,069,469 (GRCm39)	T1017A	possibly damaging	Het
Slc12a8	T	C	16: 33,361,397 (GRCm39)	L93P	probably damaging	Het
Slc5a6	A	G	5: 31,195,190 (GRCm39)	I469T	probably damaging	Het
Smarcc1	T	A	9: 109,964,728 (GRCm39)	V95D	probably damaging	Het
Snap29	T	A	16: 17,224,163 (GRCm39)	S59R	probably damaging	Het
Tmem121b	T	A	6: 120,469,784 (GRCm39)	Y311F	probably damaging	Het
Tpcn1	C	A	5: 120,694,000 (GRCm39)	V199L	probably benign	Het
Ttn	T	C	2: 76,618,721 (GRCm39)	I16188V	probably benign	Het
Usp24	T	C	4: 106,216,247 (GRCm39)	I366T	possibly damaging	Het
Utrn	T	A	10: 12,545,463 (GRCm39)	E1727D	probably damaging	Het
Vav2	T	C	2: 27,182,701 (GRCm39)	D301G	probably damaging	Het
Vmn2r104	T	C	17: 20,263,087 (GRCm39)	T125A	probably benign	Het
Vmn2r73	T	G	7: 85,507,123 (GRCm39)	I730L	probably benign	Het
Zfp352	A	T	4: 90,113,118 (GRCm39)	K419N	probably benign	Het
Zfp84	C	A	7: 29,474,873 (GRCm39)	S48R	probably damaging	Het
Zfp947	A	T	17: 22,364,386 (GRCm39)	H429Q	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
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
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'- ATTTGTGTCCTTCTGAGTACCAG -3'
(R):5'- CCTGGCAACTCATCAGACATTG -3'

Sequencing Primer
(F):5'- CTGTATTAGGATGTTCCAAACCACGG -3'
(R):5'- CATTGATATATTCTTGTCCTGTGAGC -3'

Posted On

2022-02-07