Mutagenetix > Incidental Mutations

Incidental Mutation 'R8773:Btbd7'

664553

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

Is this an essential gene?

Possibly non essential (E-score: 0.429) question?

Stock #

R8773 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102780797-102878471 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102837982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 266 (N266K)

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: N266K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: N266K

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: N266K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	T	2: 151,472,142	S539T	possibly damaging	Het
Abcc6	C	T	7: 45,985,145	R1136Q	probably benign	Het
Abhd12b	A	C	12: 70,166,934		probably null	Het
Agk	T	G	6: 40,357,116	V98G	possibly damaging	Het
Apbb2	A	G	5: 66,451,909	S132P	probably damaging	Het
Apc2	T	C	10: 80,306,212	S322P	probably damaging	Het
Armc3	T	C	2: 19,288,856	V486A	probably benign	Het
Asxl2	A	G	12: 3,457,200	K131E	probably damaging	Het
Atp13a4	A	G	16: 29,441,580	V560A		Het
Bnc1	C	T	7: 81,973,971	G503S	probably damaging	Het
Bsn	C	A	9: 108,110,505	V2683F	unknown	Het
Cdca7l	G	A	12: 117,875,611	D350N	possibly damaging	Het
Col6a3	T	A	1: 90,768,449	D3239V	unknown	Het
Col9a1	T	A	1: 24,185,127	I130N	unknown	Het
Cr2	A	G	1: 195,158,605	W460R	probably damaging	Het
Cyb561d2	A	G	9: 107,540,384	F56S	probably damaging	Het
Dnaaf1	A	G	8: 119,575,455	I32V	probably benign	Het
Dnah11	T	A	12: 117,995,215	T2978S	possibly damaging	Het
Dsg2	T	A	18: 20,582,999	D302E	probably damaging	Het
Faf1	T	A	4: 109,842,310	F351I	possibly damaging	Het
Fam96a	A	T	9: 66,138,385	N145I	probably damaging	Het
Gimap8	C	A	6: 48,656,611	Q455K	probably benign	Het
Gm6588	T	C	5: 112,449,815	V76A	probably benign	Het
Hps6	C	G	19: 46,005,702	R693G	possibly damaging	Het
Irx1	C	T	13: 71,959,516	G349D	probably damaging	Het
Itga8	C	G	2: 12,182,684	G728A	probably damaging	Het
Lcat	T	C	8: 105,940,078	T271A	possibly damaging	Het
Mapkapk2	T	C	1: 131,055,942	H308R	probably damaging	Het
Mast1	A	T	8: 84,916,324	N947K	probably damaging	Het
Mkl1	T	C	15: 81,018,073	S349G	possibly damaging	Het
Mpeg1	A	T	19: 12,463,055	I626F	probably damaging	Het
Myh15	T	C	16: 49,195,537	S1859P	possibly damaging	Het
Nlrx1	A	T	9: 44,256,415	D728E	probably benign	Het
Olfr335-ps	A	G	2: 36,302,375	T279A	probably benign	Het
Olfr897-ps1	G	T	9: 38,309,220	V142F	probably benign	Het
Pcdhb18	A	T	18: 37,491,509	S631C	probably damaging	Het
Pcdhga11	C	A	18: 37,757,311	Y457*	probably null	Het
Pcdhga5	T	C	18: 37,696,770	I757T	probably benign	Het
Pcgf5	G	A	19: 36,411,948		probably benign	Het
Pdf	A	G	8: 107,048,468	V44A	possibly damaging	Het
Prtg	A	T	9: 72,912,301	*1192L	probably null	Het
Ptk7	A	G	17: 46,566,267	F955S	possibly damaging	Het
Rbp3	C	A	14: 33,962,535	Q1174K	possibly damaging	Het
Rufy1	T	C	11: 50,430,969	D46G	possibly damaging	Het
Sbf2	A	G	7: 110,348,995	V1216A	probably benign	Het
Serpina11	A	G	12: 103,986,463	V18A	unknown	Het
Serpinb6a	T	A	13: 33,931,560	N47I	probably damaging	Het
Shc2	T	C	10: 79,621,090	H564R	probably damaging	Het
Sirt7	T	A	11: 120,624,062	R115*	probably null	Het
Slc22a14	A	T	9: 119,230,224		probably benign	Het
Stra8	T	A	6: 34,935,646	S331T	probably damaging	Het
Tm9sf2	A	G	14: 122,143,471	T324A	probably benign	Het
Tmem268	T	C	4: 63,580,293	S224P	probably benign	Het
Tmem55b	T	C	14: 50,929,046	T194A	possibly damaging	Het
Tns1	T	C	1: 73,937,248	D1147G	probably damaging	Het
Tomm22	C	T	15: 79,671,110		probably benign	Het
Top1	A	G	2: 160,714,238	Y539C	probably damaging	Het
Tpp2	T	A	1: 43,970,392		probably benign	Het
Trav3-1	T	C	14: 52,580,971	V34A	probably damaging	Het
Tspyl5	T	C	15: 33,687,092	N236D	possibly damaging	Het
Ttc41	A	G	10: 86,729,815	D411G	probably benign	Het
Vmn1r128	A	T	7: 21,349,997	M209L	probably benign	Het
Wdr66	A	G	5: 123,273,850	D515G	probably benign	Het
Xirp2	T	A	2: 67,525,183	D3429E	probably benign	Het
Zfp418	A	T	7: 7,182,798	T587S	probably benign	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
R7429:Btbd7	UTSW	12	102837780	missense	probably damaging	1.00
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
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'- GTGTAAAACAGAGAGGTCCACC -3'
(R):5'- TGGAATGGAGGACTCAAGATTTC -3'

Sequencing Primer
(F):5'- AGAGAGGTCCACCACATCGG -3'
(R):5'- CAGAATGTCGACATCCTTGTTCAG -3'

Posted On

2021-03-08