Mutagenetix > Incidental Mutation

Incidental Mutation 'R5908:Btbd8'

460773

Institutional Source

Beutler Lab

Gene Symbol

Btbd8

Ensembl Gene

ENSMUSG00000070632

Gene Name

BTB domain containing 8

Synonyms

EG627196, A830010M20Rik, Gm16115

MMRRC Submission

044105-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R5908 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107585863-107659073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 107655460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 574 (D574E)

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: D574E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000098511
Gene: ENSMUSG00000111375
AA Change: D574E

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 benign
Transcript: ENSMUST00000112671
AA Change: D574E

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108290
Gene: ENSMUSG00000111375
AA Change: D574E

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

probably benign
Transcript: ENSMUST00000152474

SMART Domains

Protein: ENSMUSP00000114881
Gene: ENSMUSG00000111375

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: D1086E

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.2806

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.3%
20x: 91.8%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,624,730 (GRCm39)	L198H	probably damaging	Het
Anks1	C	T	17: 28,214,993 (GRCm39)	T480I	probably damaging	Het
Arhgef18	G	A	8: 3,503,165 (GRCm39)	R857Q	probably damaging	Het
B230208B08Rik	A	G	4: 78,132,297 (GRCm39)		noncoding transcript	Het
B9d2	T	A	7: 25,382,724 (GRCm39)	W33R	probably damaging	Het
Bcl2a1c	A	G	9: 114,159,572 (GRCm39)	T117A	probably benign	Het
Cabin1	A	G	10: 75,557,366 (GRCm39)	S1091P	probably damaging	Het
Clip3	C	A	7: 29,996,298 (GRCm39)	D64E	probably damaging	Het
Col6a5	C	G	9: 105,740,000 (GRCm39)	D2540H	possibly damaging	Het
Commd5	A	T	15: 76,785,136 (GRCm39)	M178L	probably benign	Het
Crtc3	T	A	7: 80,245,542 (GRCm39)	H361L	possibly damaging	Het
Dip2b	T	A	15: 100,049,065 (GRCm39)	L153Q	possibly damaging	Het
Eif2s1	T	A	12: 78,926,817 (GRCm39)	V189D	probably damaging	Het
Etl4	C	T	2: 20,748,718 (GRCm39)	A483V	probably damaging	Het
Foxo3	T	C	10: 42,072,583 (GRCm39)	I645V	probably benign	Het
Gm4841	A	G	18: 60,403,506 (GRCm39)	S196P	possibly damaging	Het
Hip1	A	G	5: 135,453,717 (GRCm39)		probably null	Het
Il36rn	G	T	2: 24,167,502 (GRCm39)		probably benign	Het
Ints2	A	G	11: 86,106,371 (GRCm39)		probably null	Het
Khnyn	A	G	14: 56,124,523 (GRCm39)	D259G	probably benign	Het
Lyst	T	A	13: 13,871,346 (GRCm39)	Y2694*	probably null	Het
Map4k2	T	C	19: 6,401,346 (GRCm39)		probably benign	Het
Marchf10	C	T	11: 105,281,065 (GRCm39)	V407I	probably benign	Het
Mast4	C	A	13: 102,874,764 (GRCm39)	V1367F	probably damaging	Het
Mrgprb3	A	T	7: 48,293,366 (GRCm39)	S62T	probably damaging	Het
Mthfd1l	T	C	10: 4,039,392 (GRCm39)	F801S	probably damaging	Het
Nhsl3	A	G	4: 129,115,941 (GRCm39)	S908P	probably damaging	Het
Notch2	T	C	3: 98,031,239 (GRCm39)		probably benign	Het
Nr2e1	T	C	10: 42,448,765 (GRCm39)	S158G	probably benign	Het
Nup214	A	G	2: 31,881,353 (GRCm39)	I404V	probably benign	Het
Or13n4	T	C	7: 106,423,404 (GRCm39)	T110A	probably benign	Het
Pik3c2g	G	A	6: 139,714,436 (GRCm39)	R196H		Het
Pik3r3	A	T	4: 116,129,955 (GRCm39)	D213V	probably benign	Het
Pip5k1b	A	T	19: 24,374,501 (GRCm39)	S27T	possibly damaging	Het
Pkp1	G	A	1: 135,846,621 (GRCm39)	Q44*	probably null	Het
Pnma8b	C	T	7: 16,680,968 (GRCm39)	R651C	unknown	Het
Pnpt1	T	A	11: 29,080,887 (GRCm39)	S44T	probably benign	Het
Polb	A	T	8: 23,132,319 (GRCm39)		probably null	Het
Pom121l2	A	G	13: 22,165,984 (GRCm39)	N85S	probably damaging	Het
Prim1	A	G	10: 127,853,893 (GRCm39)	K104E	probably damaging	Het
Prl8a1	T	A	13: 27,758,040 (GRCm39)	Y223F	probably benign	Het
Rbak	T	G	5: 143,159,391 (GRCm39)	H554P	probably damaging	Het
Serpina3c	T	C	12: 104,117,970 (GRCm39)	R123G	probably benign	Het
Sh3bp4	T	G	1: 89,073,605 (GRCm39)	S818A	probably damaging	Het
Sh3rf3	C	G	10: 58,885,270 (GRCm39)	H384Q	probably benign	Het
Slc9a8	C	T	2: 167,293,090 (GRCm39)		probably benign	Het
Sptbn4	T	C	7: 27,103,678 (GRCm39)	E1181G	probably benign	Het
Taf2	G	A	15: 54,935,402 (GRCm39)		probably benign	Het
Taf7l2	A	T	10: 115,949,133 (GRCm39)	I131N	probably benign	Het
Tbc1d9	A	T	8: 83,976,174 (GRCm39)	M578L	probably benign	Het
Tinagl1	G	T	4: 130,066,763 (GRCm39)	Y111*	probably null	Het
Tor2a	T	C	2: 32,651,697 (GRCm39)	L304P	probably damaging	Het
Trp53bp1	A	G	2: 121,067,304 (GRCm39)	V474A	probably benign	Het
Trrap	C	A	5: 144,723,518 (GRCm39)	A325E	probably damaging	Het
Ube4a	A	G	9: 44,859,322 (GRCm39)		probably null	Het
Use1	G	C	8: 71,822,257 (GRCm39)	K239N	probably damaging	Het
Vps9d1	G	T	8: 123,973,563 (GRCm39)	Q407K	probably benign	Het
Zfp36l1	A	T	12: 80,156,449 (GRCm39)	S311T	possibly damaging	Het
Zfp729b	T	C	13: 67,739,374 (GRCm39)	K964E	probably benign	Het
Zfp974	T	A	7: 27,610,382 (GRCm39)	M448L	probably benign	Het
Zfyve28	A	T	5: 34,374,214 (GRCm39)	V600E	possibly 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
R6089:Btbd8	UTSW	5	107,654,895 (GRCm39)	missense	probably damaging	0.99
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'- GCGACTCAGTGAAACGTGAG -3'
(R):5'- CTCTGTAGCACAGTCGTCAG -3'

Sequencing Primer
(F):5'- CTGAGGTCAGAACTGGCTG -3'
(R):5'- TCTGTAGCACAGTCGTCAGGTAAC -3'

Posted On

2017-02-28