Mutagenetix > Incidental Mutations

Incidental Mutation 'R7998:Btbd7'

616211

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: 0.336) question?

Stock #

R7998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102780797-102878471 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 102795240 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 562 (L562R)

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: L562R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: L562R

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: L562R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 36,096,692	R216C	probably benign	Het
Acsl3	C	T	1: 78,694,271	P294L	probably damaging	Het
Alox12b	T	C	11: 69,168,837	Y572H	probably damaging	Het
Arid1b	A	G	17: 5,327,684	D1236G	probably damaging	Het
Astl	T	C	2: 127,350,499	L254P	probably damaging	Het
Ccdc58	T	A	16: 36,085,033	V65D	probably benign	Het
Chl1	T	C	6: 103,729,289	V1195A	probably benign	Het
Cib1	A	T	7: 80,228,414	Y105*	probably null	Het
Cog3	G	T	14: 75,747,093	S94Y	possibly damaging	Het
Cpne6	A	C	14: 55,516,294	Q403P	probably damaging	Het
Csn1s1	A	G	5: 87,674,228	N119S	possibly damaging	Het
Cux2	T	C	5: 121,868,585	D874G	possibly damaging	Het
Dicer1	A	T	12: 104,704,069	F1079Y	probably damaging	Het
Dsc2	T	A	18: 20,034,663	Q724H	possibly damaging	Het
Fam96b	T	A	8: 104,641,036	S94C	probably damaging	Het
Fbxw16	A	G	9: 109,436,698	V351A	probably damaging	Het
G2e3	A	T	12: 51,353,841	E59D	probably benign	Het
Gm10800	A	AC	2: 98,667,033		probably null	Het
Gm10837	G	T	14: 122,490,641		probably benign	Het
Gm14085	T	C	2: 122,494,358	L137P	probably damaging	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Gpr18	T	C	14: 121,911,981	I211V	probably benign	Het
Gstm7	T	A	3: 107,930,341	D98V	probably damaging	Het
Hspa8	A	G	9: 40,804,514	Y525C	probably damaging	Het
Itga7	T	C	10: 128,934,151	S55P	probably damaging	Het
Itpr1	T	C	6: 108,417,948	V1674A	possibly damaging	Het
Itsn1	G	T	16: 91,850,936	G893C	unknown	Het
Kcnc1	A	G	7: 46,397,799	D41G	probably benign	Het
Larp6	A	G	9: 60,724,355	K137E	probably damaging	Het
Leo1	G	T	9: 75,445,276	G34C	probably benign	Het
Map4	G	A	9: 110,079,861	V1050M	probably damaging	Het
Mast3	A	G	8: 70,783,570	V722A	probably benign	Het
Med28	T	A	5: 45,525,199	V69D	probably damaging	Het
Mier1	T	C	4: 103,162,615	F512S	probably benign	Het
Mov10l1	T	A	15: 89,053,439	V1147E	probably damaging	Het
Mroh7	T	C	4: 106,711,281	E409G	probably benign	Het
Muc16	G	T	9: 18,639,892	P5035Q	probably benign	Het
Nemp1	C	A	10: 127,693,489	S213R	probably damaging	Het
Npffr2	T	C	5: 89,583,290	Y360H	probably damaging	Het
Nrxn2	T	C	19: 6,509,875	V1221A	probably damaging	Het
Nup107	A	G	10: 117,757,994	F765L	probably damaging	Het
Nup188	T	C	2: 30,330,971	L991P	probably damaging	Het
Olfr205	T	A	16: 59,329,270	M80L	probably benign	Het
Olfr275	A	T	4: 52,825,970	D191V	possibly damaging	Het
Pla2g7	A	T	17: 43,611,318	I363L	probably benign	Het
Ppp2r1a	T	C	17: 20,961,639	F473S	possibly damaging	Het
Prex1	A	G	2: 166,587,045		probably null	Het
Ptov1	A	G	7: 44,864,929	V263A	probably damaging	Het
Reg3a	T	C	6: 78,381,149	V21A	probably benign	Het
Sdk2	T	A	11: 113,859,938	I550F	probably benign	Het
Shprh	T	A	10: 11,185,341	W1133R	probably damaging	Het
Syne2	T	C	12: 76,087,858	V1297A	probably damaging	Het
Themis2	A	G	4: 132,792,564	I50T	probably damaging	Het
Tmprss15	C	A	16: 79,001,843	L650F	possibly damaging	Het
Ttc41	C	A	10: 86,736,847	N694K	probably benign	Het
Ttll9	T	C	2: 152,991,626	Y215H	possibly damaging	Het
Ttn	C	A	2: 76,903,309	V4541L	unknown	Het
Usp32	G	T	11: 84,994,426	A1265E	probably damaging	Het
Vcan	T	A	13: 89,704,327	D838V	probably damaging	Het
Vmn2r88	T	C	14: 51,414,108	I293T		Het
Wdr36	T	G	18: 32,852,519	D496E	probably damaging	Het
Wrn	T	C	8: 33,292,643	N753S	probably benign	Het
Zmat3	T	C	3: 32,341,666	R231G	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
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
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'- GCAGAAAACGAGTGACCATC -3'
(R):5'- AAGCTTACATAACATCCCTAGAGTC -3'

Sequencing Primer
(F):5'- CGAGTGACCATCTAGATTTTACTTTC -3'
(R):5'- TCCCTAGAGTCTTATTTAAGTTGTGG -3'

Posted On

2020-01-23