Mutagenetix > Incidental Mutation

Incidental Mutation 'R2013:Btbd8'

222339

Institutional Source

Beutler Lab

Gene Symbol

Btbd8

Ensembl Gene

ENSMUSG00000070632

Gene Name

BTB domain containing 8

Synonyms

EG627196, A830010M20Rik, Gm16115

MMRRC Submission

040022-MU

Accession Numbers

Essential gene?

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

Stock #

R2013 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107585863-107659073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107658655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1742 (W1742R)

Ref Sequence

ENSEMBL: ENSMUSP00000148277 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000060553

Predicted Effect

probably damaging
Transcript: ENSMUST00000100951
AA Change: W1230R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098511
Gene: ENSMUSG00000111375
AA Change: W1230R

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

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

probably damaging
Transcript: ENSMUST00000211896
AA Change: W1742R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	G	17: 48,347,723 (GRCm39)	T194P	possibly damaging	Het
4921504E06Rik	T	A	2: 19,545,124 (GRCm39)	M110L	probably benign	Het
Acad9	T	G	3: 36,127,737 (GRCm39)	I113R	probably damaging	Het
Adam34l	T	C	8: 44,079,442 (GRCm39)	S261G	possibly damaging	Het
Adamts6	A	T	13: 104,450,812 (GRCm39)	I332F	probably damaging	Het
Adcy8	C	T	15: 64,639,727 (GRCm39)	G678S	probably benign	Het
Afg3l2	C	T	18: 67,564,842 (GRCm39)	V211I	probably damaging	Het
Ahnak	T	C	19: 8,991,937 (GRCm39)	I4407T	probably damaging	Het
Alpl	G	T	4: 137,482,458 (GRCm39)	H79N	probably benign	Het
Apc	A	G	18: 34,448,644 (GRCm39)	I1813V	probably damaging	Het
Ascc3	T	C	10: 50,525,908 (GRCm39)	M540T	probably damaging	Het
Blm	T	C	7: 80,152,147 (GRCm39)	E600G	probably damaging	Het
Cadps	T	A	14: 12,522,337 (GRCm38)	D609V	probably damaging	Het
Ccdc69	C	T	11: 54,941,983 (GRCm39)	M174I	probably benign	Het
Cdk13	A	T	13: 17,913,748 (GRCm39)	L877*	probably null	Het
Cdk14	T	C	5: 5,143,047 (GRCm39)	Y228C	probably damaging	Het
Dip2c	C	T	13: 9,617,882 (GRCm39)	Q426*	probably null	Het
Dsp	A	G	13: 38,375,434 (GRCm39)	N1073S	probably damaging	Het
Epyc	T	C	10: 97,511,655 (GRCm39)	I216T	probably damaging	Het
Erbin	A	G	13: 103,994,041 (GRCm39)	S300P	probably damaging	Het
Ercc3	A	G	18: 32,381,482 (GRCm39)	T433A	probably benign	Het
Exoc4	A	G	6: 33,243,026 (GRCm39)	T80A	probably damaging	Het
Foxm1	T	A	6: 128,352,465 (GRCm39)		probably null	Het
Gaa	A	G	11: 119,175,409 (GRCm39)		probably null	Het
H2-Q4	A	G	17: 35,599,526 (GRCm39)	E203G	probably damaging	Het
Helt	T	C	8: 46,745,355 (GRCm39)	D214G	probably damaging	Het
Hlcs	A	G	16: 94,063,599 (GRCm39)	V487A	probably benign	Het
Hmmr	A	T	11: 40,619,259 (GRCm39)	S74T	possibly damaging	Het
Hspa9	A	T	18: 35,079,701 (GRCm39)	Y243N	probably damaging	Het
Htt	T	G	5: 35,010,215 (GRCm39)	L1556R	probably damaging	Het
Ift80	T	C	3: 68,898,117 (GRCm39)	K73E	possibly damaging	Het
Il6st	G	A	13: 112,635,423 (GRCm39)	A551T	probably null	Het
Kdm5a	T	C	6: 120,408,951 (GRCm39)	S1545P	probably benign	Het
Lef1	T	A	3: 130,905,236 (GRCm39)	I39N	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrp6	A	G	6: 134,457,337 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,577,807 (GRCm39)	D59G	probably damaging	Het
Maged1	T	C	X: 93,580,523 (GRCm39)	Y636C	possibly damaging	Het
Mamdc4	T	A	2: 25,453,584 (GRCm39)	D1195V	probably damaging	Het
Mob3b	A	G	4: 35,083,922 (GRCm39)	V89A	probably benign	Het
Mogs	C	T	6: 83,094,631 (GRCm39)	R483*	probably null	Het
Mybphl	A	C	3: 108,282,718 (GRCm39)	T203P	probably benign	Het
Myo15a	A	G	11: 60,385,057 (GRCm39)	T1720A	probably damaging	Het
Myo16	T	A	8: 10,552,796 (GRCm39)	F945I	probably damaging	Het
Nbeal2	G	A	9: 110,463,139 (GRCm39)	L1309F	probably benign	Het
Nes	A	G	3: 87,883,985 (GRCm39)	Q748R	possibly damaging	Het
Nhsl1	A	T	10: 18,387,340 (GRCm39)	R205W	probably damaging	Het
Nlrc3	A	C	16: 3,782,974 (GRCm39)	L161R	probably damaging	Het
Npy2r	T	A	3: 82,448,487 (GRCm39)	D96V	probably damaging	Het
Or4d11	T	A	19: 12,013,518 (GRCm39)	E196V	probably damaging	Het
Or5w18	T	G	2: 87,632,847 (GRCm39)	V38G	probably damaging	Het
Pappa2	C	T	1: 158,662,498 (GRCm39)	C1159Y	probably damaging	Het
Phf21a	T	C	2: 92,058,828 (GRCm39)		probably null	Het
Pik3c2a	T	A	7: 115,950,166 (GRCm39)		probably null	Het
Psg22	A	T	7: 18,453,560 (GRCm39)	Y85F	possibly damaging	Het
Pttg1ip2	T	A	5: 5,505,964 (GRCm39)	I106L	probably benign	Het
Qtrt2	A	G	16: 43,689,455 (GRCm39)	I181T	probably damaging	Het
Sash1	A	T	10: 8,605,177 (GRCm39)	V1071D	probably benign	Het
Scn10a	A	T	9: 119,442,802 (GRCm39)	I1481N	probably damaging	Het
Slc15a1	G	A	14: 121,713,399 (GRCm39)	A376V	possibly damaging	Het
Slc25a46	A	T	18: 31,742,778 (GRCm39)	H29Q	probably benign	Het
Slit2	T	C	5: 48,459,832 (GRCm39)	C1354R	probably damaging	Het
Ssu2	C	T	6: 112,360,902 (GRCm39)	E52K	possibly damaging	Het
Taar7e	A	T	10: 23,913,732 (GRCm39)	H74L	possibly damaging	Het
Tcte1	A	T	17: 45,852,237 (GRCm39)	N490I	probably benign	Het
Tent4b	T	A	8: 88,972,223 (GRCm39)		probably null	Het
Tpst2	G	T	5: 112,455,880 (GRCm39)	G140C	probably damaging	Het
Trip11	A	T	12: 101,803,981 (GRCm39)	F1634I	probably damaging	Het
Trpm2	A	G	10: 77,761,600 (GRCm39)	F1017L	probably damaging	Het
Utp18	A	G	11: 93,766,948 (GRCm39)	V253A	possibly damaging	Het
Vmn2r102	A	G	17: 19,897,006 (GRCm39)	T118A	probably benign	Het
Vmn2r14	T	C	5: 109,369,109 (GRCm39)	T155A	probably benign	Het
Vmn2r19	T	A	6: 123,292,954 (GRCm39)	M332K	probably benign	Het
Vmn2r71	T	A	7: 85,269,845 (GRCm39)	M452K	probably benign	Het
Vmn2r79	T	G	7: 86,653,289 (GRCm39)	L518R	possibly damaging	Het
Vps13b	T	C	15: 35,607,288 (GRCm39)	S1074P	probably damaging	Het
Vps13d	A	G	4: 144,835,078 (GRCm39)	S2757P	probably damaging	Het
Wdr33	C	A	18: 32,022,029 (GRCm39)	Q860K	unknown	Het
Zfp423	T	A	8: 88,509,025 (GRCm39)	I440F	probably benign	Het
Zup1	A	G	10: 33,805,820 (GRCm39)	V437A	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
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
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'- ACAAGCTCTCTGCCTGAAGAC -3'
(R):5'- TGATCTACTTGTGTACTGACATGG -3'

Sequencing Primer
(F):5'- TCTGCCTGAAGACCTAAGCTTAG -3'
(R):5'- CTTGTGTACTGACATGGAAATTCTTG -3'

Posted On

2014-08-25