Mutagenetix > Incidental Mutation

Incidental Mutation 'R7998:Btbd7'

616211

Institutional Source

Beutler Lab

Gene Symbol

Btbd7

Ensembl Gene

ENSMUSG00000041702

Gene Name

BTB domain containing 7

Synonyms

5730507E09Rik, FUP1, E130118E17Rik

MMRRC Submission

046038-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.496) question?

Stock #

R7998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102747056-102844730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 102761499 bp (GRCm39)

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: 35,818,649 (GRCm39)	R216C	probably benign	Het
Acsl3	C	T	1: 78,671,988 (GRCm39)	P294L	probably damaging	Het
Alox12b	T	C	11: 69,059,663 (GRCm39)	Y572H	probably damaging	Het
Arid1b	A	G	17: 5,377,959 (GRCm39)	D1236G	probably damaging	Het
Astl	T	C	2: 127,192,419 (GRCm39)	L254P	probably damaging	Het
Chl1	T	C	6: 103,706,250 (GRCm39)	V1195A	probably benign	Het
Ciao2b	T	A	8: 105,367,668 (GRCm39)	S94C	probably damaging	Het
Cib1	A	T	7: 79,878,162 (GRCm39)	Y105*	probably null	Het
Cog3	G	T	14: 75,984,533 (GRCm39)	S94Y	possibly damaging	Het
Cpne6	A	C	14: 55,753,751 (GRCm39)	Q403P	probably damaging	Het
Csn1s1	A	G	5: 87,822,087 (GRCm39)	N119S	possibly damaging	Het
Cux2	T	C	5: 122,006,648 (GRCm39)	D874G	possibly damaging	Het
Dicer1	A	T	12: 104,670,328 (GRCm39)	F1079Y	probably damaging	Het
Dsc2	T	A	18: 20,167,720 (GRCm39)	Q724H	possibly damaging	Het
Fbxw16	A	G	9: 109,265,766 (GRCm39)	V351A	probably damaging	Het
G2e3	A	T	12: 51,400,624 (GRCm39)	E59D	probably benign	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Gm10837	G	T	14: 122,728,053 (GRCm39)		probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr18	T	C	14: 122,149,393 (GRCm39)	I211V	probably benign	Het
Gstm7	T	A	3: 107,837,657 (GRCm39)	D98V	probably damaging	Het
Hspa8	A	G	9: 40,715,810 (GRCm39)	Y525C	probably damaging	Het
Itga7	T	C	10: 128,770,020 (GRCm39)	S55P	probably damaging	Het
Itpr1	T	C	6: 108,394,909 (GRCm39)	V1674A	possibly damaging	Het
Itsn1	G	T	16: 91,647,824 (GRCm39)	G893C	unknown	Het
Kcnc1	A	G	7: 46,047,223 (GRCm39)	D41G	probably benign	Het
Larp6	A	G	9: 60,631,638 (GRCm39)	K137E	probably damaging	Het
Leo1	G	T	9: 75,352,558 (GRCm39)	G34C	probably benign	Het
Map4	G	A	9: 109,908,929 (GRCm39)	V1050M	probably damaging	Het
Mast3	A	G	8: 71,236,214 (GRCm39)	V722A	probably benign	Het
Med28	T	A	5: 45,682,541 (GRCm39)	V69D	probably damaging	Het
Mier1	T	C	4: 103,019,812 (GRCm39)	F512S	probably benign	Het
Mix23	T	A	16: 35,905,403 (GRCm39)	V65D	probably benign	Het
Mov10l1	T	A	15: 88,937,642 (GRCm39)	V1147E	probably damaging	Het
Mroh7	T	C	4: 106,568,478 (GRCm39)	E409G	probably benign	Het
Muc16	G	T	9: 18,551,188 (GRCm39)	P5035Q	probably benign	Het
Nemp1	C	A	10: 127,529,358 (GRCm39)	S213R	probably damaging	Het
Npffr2	T	C	5: 89,731,149 (GRCm39)	Y360H	probably damaging	Het
Nrxn2	T	C	19: 6,559,905 (GRCm39)	V1221A	probably damaging	Het
Nup107	A	G	10: 117,593,899 (GRCm39)	F765L	probably damaging	Het
Nup188	T	C	2: 30,220,983 (GRCm39)	L991P	probably damaging	Het
Or13f5	A	T	4: 52,825,970 (GRCm39)	D191V	possibly damaging	Het
Or5ac23	T	A	16: 59,149,633 (GRCm39)	M80L	probably benign	Het
Pla2g7	A	T	17: 43,922,209 (GRCm39)	I363L	probably benign	Het
Ppp2r1a	T	C	17: 21,181,901 (GRCm39)	F473S	possibly damaging	Het
Prex1	A	G	2: 166,428,965 (GRCm39)		probably null	Het
Ptov1	A	G	7: 44,514,353 (GRCm39)	V263A	probably damaging	Het
Reg3a	T	C	6: 78,358,132 (GRCm39)	V21A	probably benign	Het
Sdk2	T	A	11: 113,750,764 (GRCm39)	I550F	probably benign	Het
Shprh	T	A	10: 11,061,085 (GRCm39)	W1133R	probably damaging	Het
Slc28a2b	T	C	2: 122,324,839 (GRCm39)	L137P	probably damaging	Het
Syne2	T	C	12: 76,134,632 (GRCm39)	V1297A	probably damaging	Het
Themis2	A	G	4: 132,519,875 (GRCm39)	I50T	probably damaging	Het
Tmprss15	C	A	16: 78,798,731 (GRCm39)	L650F	possibly damaging	Het
Ttc41	C	A	10: 86,572,711 (GRCm39)	N694K	probably benign	Het
Ttll9	T	C	2: 152,833,546 (GRCm39)	Y215H	possibly damaging	Het
Ttn	C	A	2: 76,733,653 (GRCm39)	V4541L	unknown	Het
Usp32	G	T	11: 84,885,252 (GRCm39)	A1265E	probably damaging	Het
Vcan	T	A	13: 89,852,446 (GRCm39)	D838V	probably damaging	Het
Vmn2r88	T	C	14: 51,651,565 (GRCm39)	I293T		Het
Wdr36	T	G	18: 32,985,572 (GRCm39)	D496E	probably damaging	Het
Wrn	T	C	8: 33,782,671 (GRCm39)	N753S	probably benign	Het
Zmat3	T	C	3: 32,395,815 (GRCm39)	R231G	possibly damaging	Het

Other mutations in Btbd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02047:Btbd7	APN	12	102,760,038 (GRCm39)	missense	probably benign	0.10
IGL02899:Btbd7	APN	12	102,803,921 (GRCm39)	missense	probably damaging	1.00
IGL03204:Btbd7	APN	12	102,774,239 (GRCm39)	nonsense	probably null
H8562:Btbd7	UTSW	12	102,754,561 (GRCm39)	missense	probably benign	0.26
IGL03050:Btbd7	UTSW	12	102,779,065 (GRCm39)	missense	probably benign	0.03
R1262:Btbd7	UTSW	12	102,754,210 (GRCm39)	missense	probably benign
R1423:Btbd7	UTSW	12	102,751,734 (GRCm39)	missense	possibly damaging	0.49
R1437:Btbd7	UTSW	12	102,754,349 (GRCm39)	missense	possibly damaging	0.59
R1636:Btbd7	UTSW	12	102,760,110 (GRCm39)	missense	probably damaging	1.00
R1641:Btbd7	UTSW	12	102,757,034 (GRCm39)	missense	probably damaging	1.00
R1722:Btbd7	UTSW	12	102,778,913 (GRCm39)	missense	possibly damaging	0.96
R1921:Btbd7	UTSW	12	102,760,055 (GRCm39)	missense	probably benign	0.01
R2021:Btbd7	UTSW	12	102,756,968 (GRCm39)	missense	probably damaging	1.00
R2180:Btbd7	UTSW	12	102,752,156 (GRCm39)	missense	probably damaging	1.00
R3768:Btbd7	UTSW	12	102,761,451 (GRCm39)	missense	probably damaging	1.00
R3770:Btbd7	UTSW	12	102,761,451 (GRCm39)	missense	probably damaging	1.00
R3786:Btbd7	UTSW	12	102,804,411 (GRCm39)	missense	probably benign	0.22
R4396:Btbd7	UTSW	12	102,751,552 (GRCm39)	missense	probably benign	0.00
R4809:Btbd7	UTSW	12	102,760,003 (GRCm39)	critical splice donor site	probably null
R4910:Btbd7	UTSW	12	102,774,307 (GRCm39)	missense	probably damaging	0.98
R4915:Btbd7	UTSW	12	102,804,046 (GRCm39)	nonsense	probably null
R5054:Btbd7	UTSW	12	102,804,471 (GRCm39)	missense	probably benign	0.02
R5276:Btbd7	UTSW	12	102,804,651 (GRCm39)	missense	probably benign	0.00
R5387:Btbd7	UTSW	12	102,804,044 (GRCm39)	missense	probably damaging	0.99
R5665:Btbd7	UTSW	12	102,751,456 (GRCm39)	missense	probably benign
R7083:Btbd7	UTSW	12	102,754,594 (GRCm39)	missense	probably damaging	0.99
R7354:Btbd7	UTSW	12	102,804,464 (GRCm39)	missense	probably benign	0.05
R7429:Btbd7	UTSW	12	102,804,039 (GRCm39)	missense	probably damaging	1.00
R7462:Btbd7	UTSW	12	102,803,981 (GRCm39)	missense	possibly damaging	0.88
R7469:Btbd7	UTSW	12	102,779,027 (GRCm39)	missense	probably damaging	0.99
R8499:Btbd7	UTSW	12	102,754,631 (GRCm39)	missense	probably damaging	1.00
R8773:Btbd7	UTSW	12	102,804,241 (GRCm39)	missense	probably benign	0.02
R8783:Btbd7	UTSW	12	102,754,501 (GRCm39)	missense	probably benign	0.45
R8968:Btbd7	UTSW	12	102,779,025 (GRCm39)	missense	probably damaging	1.00
R9016:Btbd7	UTSW	12	102,751,417 (GRCm39)	missense	probably damaging	1.00
R9027:Btbd7	UTSW	12	102,804,838 (GRCm39)	missense	probably damaging	1.00
R9216:Btbd7	UTSW	12	102,761,563 (GRCm39)	missense	probably damaging	1.00
R9221:Btbd7	UTSW	12	102,777,430 (GRCm39)	missense	probably damaging	1.00
R9471:Btbd7	UTSW	12	102,760,145 (GRCm39)	missense	probably damaging	1.00
X0024:Btbd7	UTSW	12	102,778,945 (GRCm39)	nonsense	probably null
X0025:Btbd7	UTSW	12	102,777,423 (GRCm39)	missense	probably benign	0.06
Z1177:Btbd7	UTSW	12	102,777,379 (GRCm39)	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