Mutagenetix > Incidental Mutations

Incidental Mutation 'R1722:Btbd7'

191572

Institutional Source

Beutler Lab

Gene Symbol

Btbd7

Ensembl Gene

ENSMUSG00000041702

Gene Name

BTB (POZ) domain containing 7

Synonyms

FUP1, E130118E17Rik, 5730507E09Rik

MMRRC Submission

039754-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.336) question?

Stock #

R1722 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102780797-102878471 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102812654 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 451 (I451N)

Ref Sequence

ENSEMBL: ENSMUSP00000152426 (fasta)

Gene Model

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

AlphaFold

Q8CFE5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045652
AA Change: I451N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: I451N

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

noncoding transcript
Transcript: ENSMUST00000220596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221925

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223554
AA Change: I451N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	A	T	2: 103,993,928		probably null	Het
Adssl1	A	T	12: 112,636,481	I346F	possibly damaging	Het
Ahnak	T	A	19: 9,010,655	L3101H	probably damaging	Het
Aldh3b3	A	G	19: 3,964,871	I123V	possibly damaging	Het
Angptl1	C	T	1: 156,857,085	P275S	possibly damaging	Het
Apoa5	C	T	9: 46,270,549	Q308*	probably null	Het
Arhgef12	T	C	9: 43,020,717	*106W	probably null	Het
Atp2c1	A	G	9: 105,439,400	Y485H	probably benign	Het
Atp6v1b1	C	T	6: 83,743,092	T3I	possibly damaging	Het
Clasp1	T	G	1: 118,590,464	L1080R	probably damaging	Het
Clec4f	A	G	6: 83,646,933	V408A	probably benign	Het
Clint1	T	A	11: 45,906,406	M438K	possibly damaging	Het
Cuzd1	A	T	7: 131,311,644	Y415N	probably damaging	Het
Ddias	A	G	7: 92,860,042	F222L	possibly damaging	Het
Efcab7	A	T	4: 99,900,618	T321S	probably benign	Het
Elp3	A	T	14: 65,551,397	D393E	probably benign	Het
Fbn2	T	C	18: 58,048,052		probably null	Het
Fcgr3	T	C	1: 171,054,119	R146G	possibly damaging	Het
Fkrp	G	A	7: 16,810,794	A381V	probably benign	Het
Gatad2b	T	G	3: 90,355,679	I476S	probably damaging	Het
Gm1527	C	T	3: 28,921,634	H557Y	probably benign	Het
Gm2431	A	T	7: 142,257,862	C102S	unknown	Het
Hoxd13	A	G	2: 74,670,045	N310S	probably benign	Het
Il9	T	A	13: 56,479,395	T135S	probably benign	Het
Ints4	A	C	7: 97,513,579	N476T	probably benign	Het
Kcnq4	A	C	4: 120,702,427	D525E	probably benign	Het
Kncn	A	T	4: 115,885,899	Y57F	probably damaging	Het
Lpl	TGG	TG	8: 68,896,602		probably null	Het
Lrrfip2	A	G	9: 111,199,761	T351A	probably damaging	Het
Madd	T	C	2: 91,167,637	E682G	probably benign	Het
March7	A	C	2: 60,234,182	R267S	probably damaging	Het
Mmp16	T	A	4: 18,051,767	L252Q	probably damaging	Het
Mri1	A	T	8: 84,253,925	V296D	possibly damaging	Het
Myo3a	A	G	2: 22,399,827	T665A	probably benign	Het
N4bp2	T	C	5: 65,806,882	V758A	probably benign	Het
Nbea	T	C	3: 55,665,695	D2489G	probably damaging	Het
Neb	T	C	2: 52,256,745	T2836A	probably damaging	Het
Nedd4l	T	A	18: 65,157,939	V203E	probably damaging	Het
Nkpd1	C	A	7: 19,523,921	Q392K	possibly damaging	Het
Nploc4	G	T	11: 120,382,569	A576E	probably benign	Het
Nxph1	T	A	6: 9,247,516	N162K	probably damaging	Het
Olfr1356	T	A	10: 78,846,971	T315S	probably benign	Het
Olfr410	T	C	11: 74,334,445	Y262C	probably damaging	Het
Pabpc2	T	G	18: 39,775,116	I478S	probably benign	Het
Pde7b	G	T	10: 20,436,244	H190Q	probably damaging	Het
Plekha2	A	T	8: 25,042,960	S332T	probably benign	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Rasl11a	A	T	5: 146,845,242	H9L	probably benign	Het
Rer1	A	T	4: 155,075,001	F177I	probably damaging	Het
Rinl	T	C	7: 28,792,244	L74P	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Rttn	T	C	18: 88,973,531	V78A	probably benign	Het
Skint5	A	T	4: 113,846,311		probably null	Het
Tenm2	A	C	11: 36,008,103	Y2743D	probably damaging	Het
Tmem101	T	C	11: 102,154,693	Y110C	probably damaging	Het
Trim9	T	C	12: 70,248,374	N658S	probably benign	Het
Ucp1	A	T	8: 83,290,688	T36S	probably benign	Het
Vmn2r43	A	G	7: 8,255,068	I382T	probably damaging	Het
Zfp142	C	T	1: 74,569,776	R1620Q	probably damaging	Het
Zfp386	T	C	12: 116,059,906	S380P	probably 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
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
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
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'- AACTGTGTTCCTGACCTGGCTTG -3'
(R):5'- GGCTGTGAGGACATCATTGCTGAG -3'

Sequencing Primer
(F):5'- AAGTCCTGGGCTTGTTCAC -3'
(R):5'- GACATCATTGCTGAGAGCATC -3'

Posted On

2014-05-14