Mutagenetix > Incidental Mutation

Incidental Mutation 'R7354:Btbd7'

570825

Institutional Source

Beutler Lab

Gene Symbol

Btbd7

Ensembl Gene

ENSMUSG00000041702

Gene Name

BTB domain containing 7

Synonyms

5730507E09Rik, FUP1, E130118E17Rik

MMRRC Submission

045440-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.470) question?

Stock #

R7354 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102747056-102844730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102804464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 192 (M192K)

Ref Sequence

ENSEMBL: ENSMUSP00000046951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045652] [ENSMUST00000223554]

AlphaFold

Q8CFE5

Predicted Effect

probably benign
Transcript: ENSMUST00000045652
AA Change: M192K

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: M192K

Domain	Start	End	E-Value	Type
BTB	142	244	1.57e-13	SMART
BTB	247	397	2.23e-4	SMART
BACK	402	538	1.49e-4	SMART
low complexity region	626	640	N/A	INTRINSIC
low complexity region	756	771	N/A	INTRINSIC
low complexity region	783	792	N/A	INTRINSIC
low complexity region	808	822	N/A	INTRINSIC
low complexity region	839	850	N/A	INTRINSIC
low complexity region	1076	1088	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223554
AA Change: M192K

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

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

Validation Efficiency

100% (82/82)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	T	A	4: 126,311,099 (GRCm39)	Q38L	possibly damaging	Het
Apon	T	A	10: 128,090,607 (GRCm39)	I95N	probably benign	Het
Arid1a	G	T	4: 133,421,258 (GRCm39)	P464Q	unknown	Het
Arid4b	A	G	13: 14,339,455 (GRCm39)	D503G	probably benign	Het
Asxl2	T	C	12: 3,505,637 (GRCm39)		probably benign	Het
Atp2a1	A	T	7: 126,048,028 (GRCm39)	V594D	probably damaging	Het
Begain	A	G	12: 108,999,215 (GRCm39)	F519L	possibly damaging	Het
Bora	A	G	14: 99,284,794 (GRCm39)	T15A	probably damaging	Het
Ccdc125	T	G	13: 100,814,382 (GRCm39)		probably null	Het
Cdcp3	G	A	7: 130,858,458 (GRCm39)	C1042Y	possibly damaging	Het
Cdcp3	G	T	7: 130,873,762 (GRCm39)	C1696F	unknown	Het
Cfap74	G	T	4: 155,549,804 (GRCm39)	V146L	unknown	Het
Crisp1	G	A	17: 40,630,071 (GRCm39)		probably benign	Het
Ctbp1	A	T	5: 33,407,732 (GRCm39)	H292Q	possibly damaging	Het
Defb5	T	A	8: 19,300,750 (GRCm39)	M34K	probably benign	Het
Dnajc27	A	G	12: 4,146,249 (GRCm39)	I93V	probably benign	Het
Dqx1	T	A	6: 83,037,957 (GRCm39)	Y448*	probably null	Het
Dynap	A	T	18: 70,374,371 (GRCm39)	C52S	possibly damaging	Het
Ehd4	C	A	2: 119,932,613 (GRCm39)	R271L	probably damaging	Het
Ercc2	T	G	7: 19,127,579 (GRCm39)	I619S	possibly damaging	Het
Etf1	A	G	18: 35,039,040 (GRCm39)	I409T	probably damaging	Het
Fam117a	A	G	11: 95,271,529 (GRCm39)	D367G	probably damaging	Het
Fancd2	A	G	6: 113,572,907 (GRCm39)	D1447G	unknown	Het
Fbxw9	T	C	8: 85,788,825 (GRCm39)	S192P	probably damaging	Het
Frzb	A	T	2: 80,277,153 (GRCm39)	L11Q	probably damaging	Het
Gm14496	T	C	2: 181,642,479 (GRCm39)	S717P	probably damaging	Het
Gm3250	A	G	10: 77,618,367 (GRCm39)		probably benign	Het
Gm4353	C	T	7: 115,683,146 (GRCm39)	R145Q	probably benign	Het
Gpr12	A	T	5: 146,520,772 (GRCm39)	V50D	probably damaging	Het
Hes1	T	C	16: 29,884,746 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,682,196 (GRCm39)	C451*	probably null	Het
Iars1	T	C	13: 49,857,796 (GRCm39)	V347A	probably benign	Het
Igfn1	A	G	1: 135,903,770 (GRCm39)	S323P	possibly damaging	Het
Itga6	G	A	2: 71,650,574 (GRCm39)	A207T	probably damaging	Het
Lgi4	T	A	7: 30,760,047 (GRCm39)	L81H	probably damaging	Het
Lrp1	T	C	10: 127,407,277 (GRCm39)	E1888G	probably damaging	Het
Man2a1	C	T	17: 65,059,539 (GRCm39)	T1142M	probably damaging	Het
Mdfic2	T	A	6: 98,215,242 (GRCm39)	D127V	probably damaging	Het
Mgam	A	T	6: 40,721,732 (GRCm39)	Y350F	probably damaging	Het
Miga1	T	C	3: 151,996,137 (GRCm39)	D351G	probably damaging	Het
Mro	A	G	18: 74,006,385 (GRCm39)	T111A	probably benign	Het
Mtrr	A	T	13: 68,714,326 (GRCm39)	V471E	probably damaging	Het
Myh3	C	A	11: 66,987,708 (GRCm39)	L1394I	probably damaging	Het
Myocd	A	G	11: 65,078,319 (GRCm39)	V492A	probably benign	Het
Nbeal2	A	G	9: 110,458,247 (GRCm39)	F2115S	probably damaging	Het
Nlrp1b	A	T	11: 71,072,376 (GRCm39)	M489K	possibly damaging	Het
Or12j5	A	C	7: 140,084,099 (GRCm39)	I91R	probably damaging	Het
Or14j7	A	G	17: 38,235,284 (GRCm39)	I276V	probably benign	Het
Or1e1c	A	T	11: 73,266,201 (GRCm39)	I212F	probably benign	Het
Or4c122	T	C	2: 89,079,031 (GRCm39)		probably null	Het
Or4k44	C	T	2: 111,367,909 (GRCm39)	A242T	possibly damaging	Het
Orc2	A	G	1: 58,508,906 (GRCm39)	S462P	possibly damaging	Het
Pcdh9	T	C	14: 94,125,706 (GRCm39)	T155A	probably benign	Het
Pcdhb16	G	A	18: 37,611,177 (GRCm39)	V46I	possibly damaging	Het
Pcdhb22	A	G	18: 37,653,311 (GRCm39)	D336G	probably damaging	Het
Pde4dip	T	A	3: 97,626,646 (GRCm39)	R1297S	probably damaging	Het
Plin4	A	G	17: 56,411,427 (GRCm39)	M868T	probably benign	Het
Plxnb2	A	G	15: 89,049,928 (GRCm39)	M531T	possibly damaging	Het
Poc5	T	C	13: 96,531,033 (GRCm39)	V77A	probably benign	Het
Recql5	G	A	11: 115,819,027 (GRCm39)	R180C	probably damaging	Het
Rho	C	A	6: 115,912,464 (GRCm39)	Y268*	probably null	Het
Riok1	A	T	13: 38,231,288 (GRCm39)	H182L	probably benign	Het
Rnf207	T	C	4: 152,398,548 (GRCm39)	D273G	probably damaging	Het
Serpinb11	A	G	1: 107,305,263 (GRCm39)	Y213C	probably benign	Het
Slc16a10	T	C	10: 39,952,951 (GRCm39)	Y181C	probably damaging	Het
Slc22a15	G	A	3: 101,771,897 (GRCm39)	H401Y	probably benign	Het
Slc5a5	C	A	8: 71,342,247 (GRCm39)	R268L	probably damaging	Het
Slc9a8	T	C	2: 167,316,051 (GRCm39)	F576S	possibly damaging	Het
Slx4	T	C	16: 3,804,963 (GRCm39)	E617G	probably benign	Het
Spata31d1e	A	T	13: 59,889,648 (GRCm39)	L724*	probably null	Het
Top1	T	C	2: 160,546,878 (GRCm39)	I386T	probably damaging	Het
Tor1aip1	G	T	1: 155,911,859 (GRCm39)	D41E	probably damaging	Het
Tsc22d4	G	A	5: 137,766,371 (GRCm39)	R479Q	probably benign	Het
Unc79	C	T	12: 103,108,961 (GRCm39)	T2191I	possibly damaging	Het
Vmn2r109	A	T	17: 20,761,043 (GRCm39)	D771E	probably damaging	Het
Vmn2r82	A	C	10: 79,192,464 (GRCm39)	M14L	probably benign	Het
Zc3h7a	C	T	16: 10,966,378 (GRCm39)	S583N	probably damaging	Het
Zfp518b	G	A	5: 38,840,122 (GRCm39)		probably benign	Het
Zswim4	A	G	8: 84,955,478 (GRCm39)	W314R	probably damaging	Het

Other mutations in Btbd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02047:Btbd7	APN	12	102,760,038 (GRCm39)	missense	probably benign	0.10
IGL02899:Btbd7	APN	12	102,803,921 (GRCm39)	missense	probably damaging	1.00
IGL03204:Btbd7	APN	12	102,774,239 (GRCm39)	nonsense	probably null
H8562:Btbd7	UTSW	12	102,754,561 (GRCm39)	missense	probably benign	0.26
IGL03050:Btbd7	UTSW	12	102,779,065 (GRCm39)	missense	probably benign	0.03
R1262:Btbd7	UTSW	12	102,754,210 (GRCm39)	missense	probably benign
R1423:Btbd7	UTSW	12	102,751,734 (GRCm39)	missense	possibly damaging	0.49
R1437:Btbd7	UTSW	12	102,754,349 (GRCm39)	missense	possibly damaging	0.59
R1636:Btbd7	UTSW	12	102,760,110 (GRCm39)	missense	probably damaging	1.00
R1641:Btbd7	UTSW	12	102,757,034 (GRCm39)	missense	probably damaging	1.00
R1722:Btbd7	UTSW	12	102,778,913 (GRCm39)	missense	possibly damaging	0.96
R1921:Btbd7	UTSW	12	102,760,055 (GRCm39)	missense	probably benign	0.01
R2021:Btbd7	UTSW	12	102,756,968 (GRCm39)	missense	probably damaging	1.00
R2180:Btbd7	UTSW	12	102,752,156 (GRCm39)	missense	probably damaging	1.00
R3768:Btbd7	UTSW	12	102,761,451 (GRCm39)	missense	probably damaging	1.00
R3770:Btbd7	UTSW	12	102,761,451 (GRCm39)	missense	probably damaging	1.00
R3786:Btbd7	UTSW	12	102,804,411 (GRCm39)	missense	probably benign	0.22
R4396:Btbd7	UTSW	12	102,751,552 (GRCm39)	missense	probably benign	0.00
R4809:Btbd7	UTSW	12	102,760,003 (GRCm39)	critical splice donor site	probably null
R4910:Btbd7	UTSW	12	102,774,307 (GRCm39)	missense	probably damaging	0.98
R4915:Btbd7	UTSW	12	102,804,046 (GRCm39)	nonsense	probably null
R5054:Btbd7	UTSW	12	102,804,471 (GRCm39)	missense	probably benign	0.02
R5276:Btbd7	UTSW	12	102,804,651 (GRCm39)	missense	probably benign	0.00
R5387:Btbd7	UTSW	12	102,804,044 (GRCm39)	missense	probably damaging	0.99
R5665:Btbd7	UTSW	12	102,751,456 (GRCm39)	missense	probably benign
R7083:Btbd7	UTSW	12	102,754,594 (GRCm39)	missense	probably damaging	0.99
R7429:Btbd7	UTSW	12	102,804,039 (GRCm39)	missense	probably damaging	1.00
R7462:Btbd7	UTSW	12	102,803,981 (GRCm39)	missense	possibly damaging	0.88
R7469:Btbd7	UTSW	12	102,779,027 (GRCm39)	missense	probably damaging	0.99
R7998:Btbd7	UTSW	12	102,761,499 (GRCm39)	missense	probably damaging	1.00
R8499:Btbd7	UTSW	12	102,754,631 (GRCm39)	missense	probably damaging	1.00
R8773:Btbd7	UTSW	12	102,804,241 (GRCm39)	missense	probably benign	0.02
R8783:Btbd7	UTSW	12	102,754,501 (GRCm39)	missense	probably benign	0.45
R8968:Btbd7	UTSW	12	102,779,025 (GRCm39)	missense	probably damaging	1.00
R9016:Btbd7	UTSW	12	102,751,417 (GRCm39)	missense	probably damaging	1.00
R9027:Btbd7	UTSW	12	102,804,838 (GRCm39)	missense	probably damaging	1.00
R9216:Btbd7	UTSW	12	102,761,563 (GRCm39)	missense	probably damaging	1.00
R9221:Btbd7	UTSW	12	102,777,430 (GRCm39)	missense	probably damaging	1.00
R9471:Btbd7	UTSW	12	102,760,145 (GRCm39)	missense	probably damaging	1.00
X0024:Btbd7	UTSW	12	102,778,945 (GRCm39)	nonsense	probably null
X0025:Btbd7	UTSW	12	102,777,423 (GRCm39)	missense	probably benign	0.06
Z1177:Btbd7	UTSW	12	102,777,379 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGATTTCCACCAAAAGCTTCAACTAG -3'
(R):5'- GGACATGGCCGACCTTTATG -3'

Sequencing Primer
(F):5'- AAAGCTTCAACTAGTTCAGAATCTG -3'
(R):5'- TGAGGATAAGTACTGTACTGACGTG -3'

Posted On

2019-09-13