Mutagenetix > Incidental Mutation

Incidental Mutation 'R6294:Mbtd1'

508622

Institutional Source

Beutler Lab

Gene Symbol

Mbtd1

Ensembl Gene

ENSMUSG00000059474

Gene Name

mbt domain containing 1

Synonyms

hemp

MMRRC Submission

044406-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6294 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93776678-93837811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 93823058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 493 (H493Y)

Ref Sequence

ENSEMBL: ENSMUSP00000103486 (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

possibly damaging
Transcript: ENSMUST00000063718
AA Change: H515Y

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
AA Change: H515Y

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

possibly damaging
Transcript: ENSMUST00000107853
AA Change: H493Y

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
AA Change: H493Y

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: H493Y

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
AA Change: H493Y

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

Meta Mutation Damage Score

0.1237

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

99% (71/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,631,440 (GRCm39)	H579L	probably benign	Het
Aldh2	G	A	5: 121,710,879 (GRCm39)	Q8*	probably null	Het
Ankdd1a	G	T	9: 65,427,446 (GRCm39)	H10Q	probably benign	Het
Arpp21	A	G	9: 111,956,520 (GRCm39)	F453L	probably damaging	Het
Birc6	C	A	17: 74,996,252 (GRCm39)	D4461E	probably benign	Het
Cacna1b	A	T	2: 24,609,069 (GRCm39)	S411T	possibly damaging	Het
Camk2g	A	G	14: 20,815,017 (GRCm39)	I203T	probably damaging	Het
Cat	A	T	2: 103,290,640 (GRCm39)	C425S	probably benign	Het
Ccdc34	A	G	2: 109,848,496 (GRCm39)	D95G	probably benign	Het
Clca4b	T	C	3: 144,630,946 (GRCm39)	S305G	probably null	Het
Cul7	T	C	17: 46,974,074 (GRCm39)	I1453T	probably benign	Het
Dlg1	T	A	16: 31,656,942 (GRCm39)	I612N	probably damaging	Het
Dync2h1	T	G	9: 7,084,986 (GRCm39)	K561T	probably benign	Het
Erbin	T	C	13: 103,993,564 (GRCm39)	T359A	probably benign	Het
Far2	T	A	6: 148,058,980 (GRCm39)	L222Q	probably damaging	Het
Fbxw17	A	G	13: 50,577,839 (GRCm39)	E114G	probably benign	Het
Fryl	A	T	5: 73,349,102 (GRCm39)		probably benign	Het
Ggn	A	G	7: 28,873,273 (GRCm39)	D666G	possibly damaging	Het
Hal	G	A	10: 93,350,005 (GRCm39)		probably null	Het
Htt	A	G	5: 34,979,170 (GRCm39)	D851G	probably benign	Het
Ighv14-2	A	T	12: 113,958,218 (GRCm39)	D74E	probably benign	Het
Igkv5-43	G	A	6: 69,800,426 (GRCm39)	S87L	probably damaging	Het
Klhl29	A	T	12: 5,133,995 (GRCm39)	F720I	probably damaging	Het
Klk1b8	T	A	7: 43,602,196 (GRCm39)	Y43N	probably damaging	Het
Krtap20-1	T	A	16: 88,880,989 (GRCm39)	Y7N	unknown	Het
Lama4	T	A	10: 38,951,466 (GRCm39)	F1070L	probably damaging	Het
Map4	A	G	9: 109,831,814 (GRCm39)	E98G	possibly damaging	Het
Mki67	A	G	7: 135,306,319 (GRCm39)	M581T	probably benign	Het
Mtss2	T	A	8: 111,453,960 (GRCm39)	N43K	possibly damaging	Het
Mylk3	T	A	8: 86,077,012 (GRCm39)	I475F	probably damaging	Het
Nat14	C	T	7: 4,927,073 (GRCm39)	R82*	probably null	Het
Nckap1	T	C	2: 80,371,858 (GRCm39)	N324S	probably benign	Het
Nemp1	C	T	10: 127,530,391 (GRCm39)	T281M	possibly damaging	Het
Nrg3	A	T	14: 38,119,196 (GRCm39)	H425Q	probably benign	Het
Omd	T	A	13: 49,743,467 (GRCm39)	N172K	probably damaging	Het
Or10c1	T	C	17: 37,522,517 (GRCm39)	T76A	probably benign	Het
Or12d12	T	A	17: 37,610,444 (GRCm39)	T290S	probably benign	Het
Or4f62	A	G	2: 111,986,364 (GRCm39)	I23V	probably benign	Het
Or52a33	A	G	7: 103,288,798 (GRCm39)	M183T	probably damaging	Het
Or52r1c	A	T	7: 102,734,874 (GRCm39)	I45F	probably benign	Het
Or5b123	T	C	19: 13,596,730 (GRCm39)	V25A	probably benign	Het
Orc1	T	C	4: 108,447,867 (GRCm39)	I38T	probably benign	Het
Oxct1	A	G	15: 4,172,304 (GRCm39)	T457A	possibly damaging	Het
Pcdh17	A	T	14: 84,715,108 (GRCm39)	K924N	probably benign	Het
Pkhd1l1	A	T	15: 44,433,424 (GRCm39)	I3435F	probably damaging	Het
Psg20	C	A	7: 18,416,604 (GRCm39)	V171F	probably damaging	Het
Rab11fip2	A	T	19: 59,925,531 (GRCm39)	S87T	probably damaging	Het
Rabgap1l	T	C	1: 160,059,419 (GRCm39)	T237A	probably benign	Het
Rasgrp1	A	T	2: 117,122,273 (GRCm39)	Y372*	probably null	Het
Rell1	G	T	5: 64,097,048 (GRCm39)		probably benign	Het
Rps14	A	G	18: 60,910,033 (GRCm39)	K61E	possibly damaging	Het
Rtl6	A	G	15: 84,441,321 (GRCm39)	V25A	possibly damaging	Het
Ryr2	G	T	13: 11,894,382 (GRCm39)	S185R	probably damaging	Het
Slc10a2	C	T	8: 5,141,621 (GRCm39)		probably null	Het
Slc14a1	T	A	18: 78,153,273 (GRCm39)		probably null	Het
Smad2	A	T	18: 76,422,233 (GRCm39)	N215I	probably benign	Het
Smchd1	A	T	17: 71,677,922 (GRCm39)	N1473K	probably benign	Het
Spag9	A	G	11: 93,984,311 (GRCm39)		probably null	Het
Stk31	A	C	6: 49,394,278 (GRCm39)	R213S	probably benign	Het
Tmod4	A	T	3: 95,035,617 (GRCm39)	Q255L	probably benign	Het
Tnpo1	T	A	13: 99,027,282 (GRCm39)	Y3F	probably benign	Het
Tom1l1	A	C	11: 90,552,587 (GRCm39)	Y206*	probably null	Het
Tulp2	A	G	7: 45,164,116 (GRCm39)	K36E	probably damaging	Het
Tulp4	C	T	17: 6,252,094 (GRCm39)	R282C	probably damaging	Het
Unc5b	A	T	10: 60,614,110 (GRCm39)	N246K	possibly damaging	Het
Ush2a	C	G	1: 188,268,567 (GRCm39)	S1674R	possibly damaging	Het
Vmn1r224	T	C	17: 20,640,083 (GRCm39)	I220T	probably benign	Het
Vmn1r7	G	C	6: 57,001,404 (GRCm39)	N285K	probably benign	Het
Vmn2r83	C	T	10: 79,313,688 (GRCm39)	P99S	probably damaging	Het
Zbtb38	A	G	9: 96,569,282 (GRCm39)	F601L	probably benign	Het
Zc3h3	A	T	15: 75,681,417 (GRCm39)	S555T	possibly 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
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'- TAGCATGATCACGACATAAGAGTG -3'
(R):5'- ATAGAGGTCAGGGGACTCAC -3'

Sequencing Primer
(F):5'- CACGACATAAGAGTGGAAATTTTTC -3'
(R):5'- TCAGGGGACTCACAGTCTAC -3'

Posted On

2018-03-15