Mutagenetix > Incidental Mutation

Incidental Mutation 'R6089:Btbd8'

484648

Institutional Source

Beutler Lab

Gene Symbol

Btbd8

Ensembl Gene

ENSMUSG00000070632

Gene Name

BTB domain containing 8

Synonyms

EG627196, A830010M20Rik, Gm16115

MMRRC Submission

044246-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R6089 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107585863-107659073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107654895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 386 (A386V)

Ref Sequence

ENSEMBL: ENSMUSP00000098511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060553] [ENSMUST00000100951] [ENSMUST00000112671] [ENSMUST00000152474] [ENSMUST00000160160] [ENSMUST00000211896]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000060553

Predicted Effect

probably damaging
Transcript: ENSMUST00000100951
AA Change: A386V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098511
Gene: ENSMUSG00000111375
AA Change: A386V

Domain	Start	End	E-Value	Type
low complexity region	340	353	N/A	INTRINSIC
low complexity region	698	709	N/A	INTRINSIC
low complexity region	946	957	N/A	INTRINSIC
Pfam:DUF4596	1195	1239	2.6e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112671
AA Change: A386V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108290
Gene: ENSMUSG00000111375
AA Change: A386V

Domain	Start	End	E-Value	Type
low complexity region	340	353	N/A	INTRINSIC
low complexity region	698	709	N/A	INTRINSIC
low complexity region	946	957	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133800

Predicted Effect

probably benign
Transcript: ENSMUST00000143074

SMART Domains

Protein: ENSMUSP00000122032
Gene: ENSMUSG00000106631

Domain	Start	End	E-Value	Type
low complexity region	116	127	N/A	INTRINSIC
low complexity region	364	375	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152474
AA Change: A385V

PolyPhen 2 Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114881
Gene: ENSMUSG00000111375
AA Change: A385V

Domain	Start	End	E-Value	Type
low complexity region	339	352	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160160

SMART Domains

Protein: ENSMUSP00000124398
Gene: ENSMUSG00000106631

Domain	Start	End	E-Value	Type
Pfam:DUF4580	10	140	1.5e-61	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211896
AA Change: A898V

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	G	1: 125,335,132 (GRCm39)	V95A	probably damaging	Het
Ankrd40	A	T	11: 94,224,751 (GRCm39)	K53N	probably damaging	Het
Ash1l	C	T	3: 88,960,450 (GRCm39)	Q2338*	probably null	Het
Astn2	A	G	4: 65,712,810 (GRCm39)	F610S	probably damaging	Het
Baz2a	TCTCCTC	TCTC	10: 127,950,511 (GRCm39)		probably benign	Het
Calm4	A	T	13: 3,887,874 (GRCm39)		probably benign	Het
Card10	T	C	15: 78,686,614 (GRCm39)	T68A	probably benign	Het
Cars2	A	G	8: 11,580,301 (GRCm39)	M245T	probably damaging	Het
Cat	C	A	2: 103,303,296 (GRCm39)	L160F	probably null	Het
Cers5	G	T	15: 99,638,883 (GRCm39)	T144K	probably benign	Het
Cyp3a13	T	A	5: 137,908,215 (GRCm39)	L211F	probably benign	Het
Defb4	A	T	8: 19,251,321 (GRCm39)	R63*	probably null	Het
Dnah14	G	T	1: 181,577,719 (GRCm39)	W3012L	probably damaging	Het
Dusp18	A	G	11: 3,847,555 (GRCm39)	T182A	probably benign	Het
Dzip1l	C	A	9: 99,524,737 (GRCm39)	T286K	possibly damaging	Het
Eif2ak3	A	T	6: 70,873,918 (GRCm39)	T944S	possibly damaging	Het
Fbn1	A	T	2: 125,163,145 (GRCm39)	I2119N	possibly damaging	Het
Gabbr2	A	G	4: 46,846,448 (GRCm39)	S154P	probably damaging	Het
Gm15440	A	T	13: 51,845,437 (GRCm39)	H107Q	unknown	Het
Grm2	G	A	9: 106,531,090 (GRCm39)	P133L	probably damaging	Het
Gsdme	A	G	6: 50,228,285 (GRCm39)	V61A	probably damaging	Het
Gtpbp1	A	G	15: 79,591,198 (GRCm39)	T23A	probably benign	Het
Helz	A	T	11: 107,485,963 (GRCm39)		probably null	Het
Herc1	A	C	9: 66,352,814 (GRCm39)	H2100P	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ifngr1	T	C	10: 19,482,048 (GRCm39)	S213P	probably benign	Het
Itgb7	T	C	15: 102,125,721 (GRCm39)	D636G	probably benign	Het
Mre11a	G	A	9: 14,730,760 (GRCm39)	D491N	probably benign	Het
Muc16	A	G	9: 18,554,548 (GRCm39)	L3915P	unknown	Het
Myh1	T	A	11: 67,092,993 (GRCm39)		probably null	Het
Myh1	T	G	11: 67,111,613 (GRCm39)		probably null	Het
Myh7b	C	T	2: 155,464,409 (GRCm39)	T608M	probably damaging	Het
Myof	T	C	19: 37,955,508 (GRCm39)	K23E	probably benign	Het
Nacad	A	G	11: 6,551,331 (GRCm39)	V620A	probably benign	Het
Pbrm1	T	C	14: 30,809,542 (GRCm39)	Y1121H	probably damaging	Het
Pcdha9	T	C	18: 37,131,551 (GRCm39)	F207L	probably benign	Het
Pcdhb10	T	C	18: 37,546,679 (GRCm39)	V585A	possibly damaging	Het
Pigg	A	T	5: 108,489,788 (GRCm39)	M798L	probably benign	Het
Poc5	G	T	13: 96,533,179 (GRCm39)	M102I	probably damaging	Het
Ppp2r3d	T	A	9: 101,088,835 (GRCm39)	Q496L	probably benign	Het
Ptprf	A	G	4: 118,068,281 (GRCm39)	Y1752H	probably damaging	Het
Ptpru	G	C	4: 131,499,941 (GRCm39)	S1244R	possibly damaging	Het
Rnf213	A	G	11: 119,307,385 (GRCm39)	K682E	probably benign	Het
Rtp3	T	C	9: 110,816,041 (GRCm39)	D170G	probably benign	Het
Sall4	T	C	2: 168,597,406 (GRCm39)	D478G	possibly damaging	Het
Scai	A	T	2: 38,973,566 (GRCm39)	Y58*	probably null	Het
Simc1	G	A	13: 54,676,303 (GRCm39)	V1007M	probably benign	Het
Tcf20	G	T	15: 82,737,409 (GRCm39)	D1347E	probably benign	Het
Tdo2	T	C	3: 81,870,035 (GRCm39)	Y279C	probably damaging	Het
Trdn	C	T	10: 33,340,571 (GRCm39)	P602S	probably benign	Het
Txndc5	A	T	13: 38,707,392 (GRCm39)	M1K	probably null	Het
Ubr2	A	C	17: 47,293,218 (GRCm39)	M356R	possibly damaging	Het
Uqcrc2	A	T	7: 120,253,232 (GRCm39)	D332V	probably damaging	Het
Usp48	T	C	4: 137,333,129 (GRCm39)	F108L	probably damaging	Het
Vill	A	G	9: 118,886,867 (GRCm39)	N4S	probably benign	Het
Vmn1r11	T	C	6: 57,114,645 (GRCm39)	V103A	possibly damaging	Het
Vmn2r98	A	G	17: 19,286,336 (GRCm39)	D278G	probably benign	Het
Vps35l	T	G	7: 118,345,658 (GRCm39)	S59A	possibly damaging	Het
Wfdc15a	A	T	2: 164,041,586 (GRCm39)	L79*	probably null	Het
Xxylt1	C	T	16: 30,899,799 (GRCm39)	V119M	probably damaging	Het
Zfp26	G	T	9: 20,348,989 (GRCm39)	A525D	probably damaging	Het
Zgrf1	G	A	3: 127,389,642 (GRCm39)	G396D	probably damaging	Het
Zkscan16	A	G	4: 58,948,889 (GRCm39)	D148G	possibly damaging	Het
Zscan26	G	T	13: 21,632,499 (GRCm39)	S77R	probably damaging	Het

Other mutations in Btbd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01911:Btbd8	APN	5	107,656,446 (GRCm39)	missense	probably damaging	1.00
IGL02638:Btbd8	APN	5	107,656,422 (GRCm39)	missense	possibly damaging	0.87
IGL03001:Btbd8	APN	5	107,645,708 (GRCm39)	missense	probably damaging	1.00
IGL03007:Btbd8	APN	5	107,651,542 (GRCm39)	missense	probably benign	0.37
IGL03008:Btbd8	APN	5	107,639,464 (GRCm39)	splice site	probably null
IGL03281:Btbd8	APN	5	107,651,742 (GRCm39)	missense	probably benign	0.02
R0206:Btbd8	UTSW	5	107,652,906 (GRCm39)	missense	probably benign	0.00
R0426:Btbd8	UTSW	5	107,658,239 (GRCm39)	missense	probably damaging	1.00
R0765:Btbd8	UTSW	5	107,654,800 (GRCm39)	missense	probably benign	0.14
R1747:Btbd8	UTSW	5	107,599,865 (GRCm39)	missense	probably damaging	1.00
R2013:Btbd8	UTSW	5	107,658,655 (GRCm39)	missense	probably damaging	0.99
R2338:Btbd8	UTSW	5	107,658,440 (GRCm39)	missense	probably damaging	0.99
R3963:Btbd8	UTSW	5	107,655,222 (GRCm39)	missense	probably damaging	0.99
R4460:Btbd8	UTSW	5	107,651,631 (GRCm39)	missense	possibly damaging	0.74
R4776:Btbd8	UTSW	5	107,658,317 (GRCm39)	missense	probably damaging	0.99
R4909:Btbd8	UTSW	5	107,655,176 (GRCm39)	nonsense	probably null
R5105:Btbd8	UTSW	5	107,658,337 (GRCm39)	missense	possibly damaging	0.70
R5155:Btbd8	UTSW	5	107,638,569 (GRCm39)	missense	probably damaging	0.96
R5700:Btbd8	UTSW	5	107,651,514 (GRCm39)	missense	possibly damaging	0.65
R5857:Btbd8	UTSW	5	107,609,398 (GRCm39)	missense	probably damaging	1.00
R5908:Btbd8	UTSW	5	107,655,460 (GRCm39)	missense	probably damaging	0.96
R6339:Btbd8	UTSW	5	107,651,583 (GRCm39)	missense	probably benign	0.17
R6484:Btbd8	UTSW	5	107,651,451 (GRCm39)	missense	probably benign	0.00
R7282:Btbd8	UTSW	5	107,658,371 (GRCm39)	missense	probably damaging	0.99
R7282:Btbd8	UTSW	5	107,655,062 (GRCm39)	missense	probably benign
R7492:Btbd8	UTSW	5	107,658,373 (GRCm39)	missense	probably benign	0.01
R8087:Btbd8	UTSW	5	107,632,953 (GRCm39)	missense	probably damaging	1.00
R8694:Btbd8	UTSW	5	107,658,635 (GRCm39)	missense	probably benign	0.02
R8777:Btbd8	UTSW	5	107,658,293 (GRCm39)	missense	probably damaging	0.99
R8777-TAIL:Btbd8	UTSW	5	107,658,293 (GRCm39)	missense	probably damaging	0.99
R8788:Btbd8	UTSW	5	107,618,853 (GRCm39)	makesense	probably null
R9240:Btbd8	UTSW	5	107,600,034 (GRCm39)	missense	probably benign	0.17
R9584:Btbd8	UTSW	5	107,658,347 (GRCm39)	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- GCATTTCTGAACTTTCTTAGGATCC -3'
(R):5'- TGTCACAAGCAAGGGTACAC -3'

Sequencing Primer
(F):5'- CTGAACTTTCTTAGGATCCCAAGGG -3'
(R):5'- AGAGACATGGTTCCTGCTGTCAC -3'

Posted On

2017-08-16