Mutagenetix > Incidental Mutations

Incidental Mutation 'R2180:Btbd7'

237147

Institutional Source

Beutler Lab

Gene Symbol

Btbd7

Ensembl Gene

ENSMUSG00000041702

Gene Name

BTB (POZ) domain containing 7

Synonyms

FUP1, E130118E17Rik, 5730507E09Rik

MMRRC Submission

040182-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2180 (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 102785897 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 869 (D869E)

Ref Sequence

ENSEMBL: ENSMUSP00000152426 (fasta)

Gene Model

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

AlphaFold

Q8CFE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000045652
AA Change: D869E

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

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: D869E

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: D869E

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	A	4: 41,507,170	M209L	probably benign	Het
Adamts5	T	C	16: 85,887,924	D377G	probably damaging	Het
Adgrl4	A	T	3: 151,500,142	I164F	probably damaging	Het
Anxa9	T	C	3: 95,306,424		probably null	Het
Aox4	A	T	1: 58,213,067	T34S	probably benign	Het
Asic1	G	T	15: 99,671,965	V56F	probably benign	Het
Atpaf1	T	C	4: 115,788,360	M1T	probably null	Het
Axin1	A	G	17: 26,143,335	T218A	probably benign	Het
BC049762	C	A	11: 51,254,610	W50L	probably damaging	Het
Bdp1	ATTCTTCTTCTTCTTCTTC	ATTCTTCTTCTTCTTCTTCTTC	13: 100,061,405		probably benign	Het
Birc6	T	C	17: 74,612,151	I1988T	probably benign	Het
Caln1	T	C	5: 130,839,408	*220Q	probably null	Het
Ccdc150	G	A	1: 54,272,547		probably null	Het
Ccnt1	A	T	15: 98,543,600	S596T	possibly damaging	Het
Cd44	C	T	2: 102,828,610	G640E	possibly damaging	Het
Cep192	A	G	18: 67,824,742	E582G	possibly damaging	Het
Clcnkb	G	T	4: 141,409,508		probably null	Het
Dhx29	T	C	13: 112,962,872		probably null	Het
Dnah8	T	C	17: 30,840,647	F4407S	probably benign	Het
Enah	A	T	1: 181,918,459	M419K	probably damaging	Het
Fam129a	A	T	1: 151,718,078	H838L	probably benign	Het
Fancd2	A	T	6: 113,574,637	T1055S	probably benign	Het
Gigyf2	G	A	1: 87,416,920	G525D	probably damaging	Het
Gm5800	T	A	14: 51,715,994	K55*	probably null	Het
Gpr149	A	G	3: 62,604,068	L170P	probably damaging	Het
Grik4	A	T	9: 42,542,005	Y695N	probably benign	Het
Gsg1	A	T	6: 135,240,145	V228D	probably damaging	Het
Helb	G	A	10: 120,105,448	T445M	probably benign	Het
Helz2	A	T	2: 181,233,732	D1656E	probably damaging	Het
Hyou1	A	T	9: 44,388,019	K669M	probably benign	Het
Itga2	T	C	13: 114,849,381	N953D	possibly damaging	Het
Ldhd	T	C	8: 111,629,386	I122V	probably benign	Het
Lrrtm1	A	G	6: 77,244,346	D262G	probably damaging	Het
Mapkapk5	T	C	5: 121,535,864		probably null	Het
Numa1	T	C	7: 101,999,990	I976T	probably benign	Het
Olfr1307	A	G	2: 111,945,003	V151A	probably benign	Het
Olfr417	A	G	1: 174,369,401	I161M	probably damaging	Het
Olfr446	C	T	6: 42,927,525	T98I	probably benign	Het
Olfr677	T	C	7: 105,056,885	I213T	probably benign	Het
Patj	G	A	4: 98,523,502		probably null	Het
Pfas	T	C	11: 68,992,187	D757G	possibly damaging	Het
Pom121l2	A	G	13: 21,981,975	N139D	probably benign	Het
Ppp2r3a	A	T	9: 101,127,015	Y994*	probably null	Het
Ppp6c	T	C	2: 39,197,513	D227G	probably benign	Het
Ptpn13	T	G	5: 103,569,558	H1855Q	probably damaging	Het
Ptprh	T	A	7: 4,601,868	Q59L	probably benign	Het
Rap1gap2	T	C	11: 74,393,146	K669E	probably benign	Het
Rbl2	T	C	8: 91,090,055	S348P	possibly damaging	Het
Rptor	T	A	11: 119,725,144	N161K	probably damaging	Het
Satb1	C	T	17: 51,803,496	A192T	probably damaging	Het
Scn5a	A	G	9: 119,516,051	V1083A	probably benign	Het
Sec14l2	C	T	11: 4,108,964	A194T	probably damaging	Het
Sema4b	A	G	7: 80,212,835	N53S	probably benign	Het
Sin3b	T	A	8: 72,753,295	Y876*	probably null	Het
Smchd1	C	A	17: 71,463,799	M129I	probably benign	Het
Tmc1	T	C	19: 20,824,084	Y484C	probably damaging	Het
Utp20	A	G	10: 88,820,939	S135P	probably damaging	Het
Zfp266	A	T	9: 20,499,679	C401S	probably damaging	Het
Zfp738	G	A	13: 67,671,194	T226I	probably damaging	Het
Zfp871	G	A	17: 32,775,301	T300M	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
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
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'- AGAGATCTGGGTATTCCTGCTG -3'
(R):5'- CTGAAGAGCTACATAATGCTAACAGC -3'

Sequencing Primer
(F):5'- AGATCTGGGTATTCCTGCTGATTTTC -3'
(R):5'- GCTAACAGCGATAACCTCTTTAG -3'

Posted On

2014-10-02