Mutagenetix > Incidental Mutations

Incidental Mutation 'R3770:Btbd7'

273234

Institutional Source

Beutler Lab

Gene Symbol

Btbd7

Ensembl Gene

ENSMUSG00000041702

Gene Name

BTB (POZ) domain containing 7

Synonyms

FUP1, E130118E17Rik, 5730507E09Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.447) question?

Stock #

R3770 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102780797-102878471 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102795192 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 578 (P578L)

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: P578L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: P578L

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: P578L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	A	G	7: 127,384,863		probably benign	Het
Acox1	T	C	11: 116,174,387	D578G	probably damaging	Het
Adgrb1	T	A	15: 74,588,308	I543N	probably damaging	Het
Agbl1	T	C	7: 76,425,929		probably null	Het
Ano1	A	G	7: 144,595,569	Y852H	probably damaging	Het
Apol9a	G	C	15: 77,404,396	T257S	probably benign	Het
Arhgap23	A	T	11: 97,476,106	D1071V	probably damaging	Het
Atp1a1	T	C	3: 101,581,194	D842G	probably benign	Het
Brd7	A	T	8: 88,339,407		probably null	Het
C3	C	T	17: 57,205,303	D1542N	possibly damaging	Het
Cfap54	C	T	10: 92,878,536	M2660I	unknown	Het
Dock7	T	C	4: 98,970,829	T1409A	probably benign	Het
Exoc3l4	A	G	12: 111,425,555	D410G	probably benign	Het
Foxk2	CGGGGGG	CGGGGGGGGG	11: 121,260,491		probably benign	Het
Herc2	A	G	7: 56,165,007	I2703V	probably benign	Het
Ifna7	T	C	4: 88,816,727	V167A	probably damaging	Het
Iqcg	G	A	16: 33,050,008		silent	Het
Klf3	A	G	5: 64,827,217		probably null	Het
Krtap12-1	G	T	10: 77,720,895	V91L	probably benign	Het
Lipo5	G	T	19: 33,467,800	T123N	unknown	Het
Macf1	A	G	4: 123,374,767	S4689P	probably damaging	Het
Map3k5	T	A	10: 20,025,019	V313D	probably damaging	Het
Mypn	C	A	10: 63,125,707	L1035F	possibly damaging	Het
Neurl1a	T	C	19: 47,239,889	L58P	probably damaging	Het
Olfr1110	C	T	2: 87,135,814	C169Y	probably damaging	Het
Pla2g5	C	G	4: 138,801,435	C70S	probably damaging	Het
Pole4	G	A	6: 82,622,114	R119C	possibly damaging	Het
Ppm1h	G	T	10: 122,904,122	L367F	probably damaging	Het
Ptpru	C	T	4: 131,808,424	C414Y	probably damaging	Het
Rasal3	A	T	17: 32,392,151	L912Q	probably damaging	Het
Reln	C	T	5: 21,948,566	V2247M	probably damaging	Het
Rhot2	T	C	17: 25,840,547	D407G	probably benign	Het
Rreb1	C	T	13: 37,929,603	R313W	possibly damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Scn11a	T	A	9: 119,784,049	D825V	probably damaging	Het
Slc12a3	A	G	8: 94,353,040	H832R	probably benign	Het
Slc27a2	A	G	2: 126,567,798	D300G	possibly damaging	Het
Sos1	A	G	17: 80,398,308	V1278A	probably damaging	Het
Sstr3	C	A	15: 78,540,377	V57L	probably damaging	Het
Tex2	T	A	11: 106,544,252	R783W	unknown	Het
Tjp2	A	T	19: 24,100,826	I901N	probably benign	Het
Top1	A	T	2: 160,721,522	I758F	probably damaging	Het
Trim41	T	C	11: 48,809,084	E98G	possibly damaging	Het
Vmn2r65	A	T	7: 84,940,415	N764K	probably damaging	Het
Vmn2r81	A	T	10: 79,270,600	I471F	probably damaging	Het
Wdr25	G	A	12: 108,898,420	V164M	probably damaging	Het
Zdhhc13	T	A	7: 48,802,944	L5M	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
R2180:Btbd7	UTSW	12	102785897	missense	probably damaging	1.00
R3768: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'- TGTAACAATCTGCAAGGCCAG -3'
(R):5'- GTATCGTAGTGCTGCATATATCTTG -3'

Sequencing Primer
(F):5'- CCAGGAGGTAAAATGCATCTTAAG -3'
(R):5'- GACATGCTTCCTACAGCA -3'

Posted On

2015-03-25