Mutagenetix > Incidental Mutation

Incidental Mutation 'R7429:Btbd7'

576341

Institutional Source

Beutler Lab

Gene Symbol

Btbd7

Ensembl Gene

ENSMUSG00000041702

Gene Name

BTB (POZ) domain containing 7

Synonyms

FUP1, E130118E17Rik, 5730507E09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

R7429 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102780797-102878471 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102837780 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 334 (T334A)

Ref Sequence

ENSEMBL: ENSMUSP00000046951 (fasta)

Gene Model

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

AlphaFold

Q8CFE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000045652
AA Change: T334A

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

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: T334A

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 damaging
Transcript: ENSMUST00000223554
AA Change: T334A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	C	1: 85,931,307	C60R	unknown	Het
A430033K04Rik	A	G	5: 138,636,183	D20G	possibly damaging	Het
Abca9	CA	C	11: 110,127,426		probably null	Het
Ankle2	C	T	5: 110,234,518	T120I	possibly damaging	Het
Ap2b1	C	T	11: 83,367,998	T765I	probably benign	Het
Atp8b4	A	T	2: 126,403,371	V286E	possibly damaging	Het
Brms1l	T	C	12: 55,845,299	L126P	probably damaging	Het
Cdh18	T	C	15: 23,366,856	V216A	possibly damaging	Het
Chka	A	G	19: 3,892,787	Y415C	probably damaging	Het
Cnih1	C	T	14: 46,780,222	V52I	possibly damaging	Het
Cox4i1	T	A	8: 120,674,031	M145K	probably damaging	Het
Cubn	G	T	2: 13,322,993	R2674S	possibly damaging	Het
Cyfip1	A	G	7: 55,900,593	E692G	probably damaging	Het
Dido1	G	A	2: 180,689,526	T43M	possibly damaging	Het
Edc4	T	C	8: 105,891,584	S1245P	probably damaging	Het
Enpp1	G	T	10: 24,711,950	H14Q	probably benign	Het
Etaa1	C	T	11: 17,940,281	R860Q	probably damaging	Het
Fam181b	G	A	7: 93,080,195	V59M	probably benign	Het
Fam184b	G	A	5: 45,540,888	T655I	probably benign	Het
Fcgr3	A	G	1: 171,057,873	M61T	probably benign	Het
Fign	T	C	2: 63,979,060	D622G	probably damaging	Het
Frmd3	A	G	4: 74,145,105	D223G	probably damaging	Het
Galnt4	A	G	10: 99,109,748	H445R	probably damaging	Het
Gm13124	T	A	4: 144,565,056	I27F	probably benign	Het
Gm44501	A	G	17: 40,576,626	T12A	probably null	Het
Hnrnpll	T	A	17: 80,049,847	I247F	probably damaging	Het
Hs3st4	T	C	7: 124,397,382	F424L	probably damaging	Het
Ifi206	A	T	1: 173,480,591	V613E		Het
Insig1	T	C	5: 28,075,079	F223S	probably damaging	Het
Iqgap1	C	T	7: 80,751,440	E500K	probably benign	Het
Itgav	G	A	2: 83,794,258	V731M	probably damaging	Het
Lrrfip2	T	G	9: 111,185,126		probably null	Het
Mark4	C	A	7: 19,426,167	G723C	probably damaging	Het
Marveld3	A	G	8: 109,948,468	S239P	possibly damaging	Het
Mast3	A	C	8: 70,780,303	C1122G	probably damaging	Het
Ms4a4d	A	G	19: 11,557,933	I198M	probably benign	Het
Mup14	C	T	4: 61,303,448	G35E	probably damaging	Het
Myo1a	T	A	10: 127,706,847	V118E	probably damaging	Het
Nfatc3	A	G	8: 106,108,403	T794A	probably benign	Het
Olfr406	T	A	11: 74,269,753	D121E	probably damaging	Het
Olfr577	A	T	7: 102,973,762	S77T	probably damaging	Het
Olfr828	T	C	9: 18,815,354	*313W	probably null	Het
Pde6c	T	A	19: 38,141,439	Y266N	probably damaging	Het
Pde9a	T	C	17: 31,470,706	L435P	probably damaging	Het
Pgm2	T	A	4: 99,955,995	M1K	probably null	Het
Plcb4	T	C	2: 135,968,322	Y626H	probably damaging	Het
Rnf10	T	C	5: 115,248,680	N517D	probably damaging	Het
Rpap3	A	T	15: 97,688,150	L320Q	possibly damaging	Het
Rptor	T	C	11: 119,846,828	W576R	probably damaging	Het
Scarb2	T	C	5: 92,485,234	I80V	probably benign	Het
Serpinc1	A	G	1: 160,995,441	T251A	probably benign	Het
Sgk3	A	G	1: 9,872,258	D85G	probably benign	Het
Sipa1l3	T	C	7: 29,387,206	D653G	probably benign	Het
Slc2a1	A	G	4: 119,136,313	Y449C	probably damaging	Het
Snx13	T	C	12: 35,133,358	V760A	possibly damaging	Het
Snx7	T	C	3: 117,837,212	N249S	probably benign	Het
Soat2	C	A	15: 102,154,300	H124Q	probably damaging	Het
Sugt1	T	A	14: 79,619,801		probably null	Het
Syne2	C	T	12: 75,933,996	T1509M	probably damaging	Het
Syne2	T	A	12: 76,040,410	L214*	probably null	Het
Taok2	T	C	7: 126,870,677	Q993R	possibly damaging	Het
Tmem161b	A	G	13: 84,282,747		probably null	Het
Tspan17	G	A	13: 54,795,972	E213K	probably benign	Het
Ttc6	T	A	12: 57,658,102	I631N	probably benign	Het
Ttn	T	A	2: 76,810,939	L13574F	probably damaging	Het
U2af1l4	A	G	7: 30,563,390	E12G	probably benign	Het
Usp39	T	C	6: 72,342,917	Y106C	probably damaging	Het
Vmn1r185	A	C	7: 26,611,178	F301V	probably benign	Het
Zbp1	T	A	2: 173,213,818	K184N	unknown	Het
Zfp438	A	G	18: 5,214,139	V273A	probably benign	Het
Zswim5	A	G	4: 116,975,857	T596A	possibly damaging	Het

Other mutations in Btbd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02047:Btbd7	APN	12	102793779	missense	probably benign	0.10
IGL02899:Btbd7	APN	12	102837662	missense	probably damaging	1.00
IGL03204:Btbd7	APN	12	102807980	nonsense	probably null
H8562:Btbd7	UTSW	12	102788302	missense	probably benign	0.26
IGL03050:Btbd7	UTSW	12	102812806	missense	probably benign	0.03
R1262:Btbd7	UTSW	12	102787951	missense	probably benign
R1423:Btbd7	UTSW	12	102785475	missense	possibly damaging	0.49
R1437:Btbd7	UTSW	12	102788090	missense	possibly damaging	0.59
R1636:Btbd7	UTSW	12	102793851	missense	probably damaging	1.00
R1641:Btbd7	UTSW	12	102790775	missense	probably damaging	1.00
R1722:Btbd7	UTSW	12	102812654	missense	possibly damaging	0.96
R1921:Btbd7	UTSW	12	102793796	missense	probably benign	0.01
R2021:Btbd7	UTSW	12	102790709	missense	probably damaging	1.00
R2180:Btbd7	UTSW	12	102785897	missense	probably damaging	1.00
R3768:Btbd7	UTSW	12	102795192	missense	probably damaging	1.00
R3770:Btbd7	UTSW	12	102795192	missense	probably damaging	1.00
R3786:Btbd7	UTSW	12	102838152	missense	probably benign	0.22
R4396:Btbd7	UTSW	12	102785293	missense	probably benign	0.00
R4809:Btbd7	UTSW	12	102793744	critical splice donor site	probably null
R4910:Btbd7	UTSW	12	102808048	missense	probably damaging	0.98
R4915:Btbd7	UTSW	12	102837787	nonsense	probably null
R5054:Btbd7	UTSW	12	102838212	missense	probably benign	0.02
R5276:Btbd7	UTSW	12	102838392	missense	probably benign	0.00
R5387:Btbd7	UTSW	12	102837785	missense	probably damaging	0.99
R5665:Btbd7	UTSW	12	102785197	missense	probably benign
R7083:Btbd7	UTSW	12	102788335	missense	probably damaging	0.99
R7354:Btbd7	UTSW	12	102838205	missense	probably benign	0.05
R7462:Btbd7	UTSW	12	102837722	missense	possibly damaging	0.88
R7469:Btbd7	UTSW	12	102812768	missense	probably damaging	0.99
R7998:Btbd7	UTSW	12	102795240	missense	probably damaging	1.00
R8499:Btbd7	UTSW	12	102788372	missense	probably damaging	1.00
R8773:Btbd7	UTSW	12	102837982	missense	probably benign	0.02
R8783:Btbd7	UTSW	12	102788242	missense	probably benign	0.45
R8968:Btbd7	UTSW	12	102812766	missense	probably damaging	1.00
R9016:Btbd7	UTSW	12	102785158	missense	probably damaging	1.00
R9027:Btbd7	UTSW	12	102838579	missense	probably damaging	1.00
R9216:Btbd7	UTSW	12	102795304	missense	probably damaging	1.00
R9221:Btbd7	UTSW	12	102811171	missense	probably damaging	1.00
R9471:Btbd7	UTSW	12	102793886	missense	probably damaging	1.00
X0024:Btbd7	UTSW	12	102812686	nonsense	probably null
X0025:Btbd7	UTSW	12	102811164	missense	probably benign	0.06
Z1177:Btbd7	UTSW	12	102811120	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAATTCATACCTTGTGCAAGC -3'
(R):5'- GCGTGGACTCTTTGATTACATG -3'

Sequencing Primer
(F):5'- CCTTGTGCAAGCATGTTAAATTCC -3'
(R):5'- CTGTTTAGATGAAGAGCTCAAAGCCC -3'

Posted On

2019-10-07