Mutagenetix > Incidental Mutation

Incidental Mutation 'R4698:Btbd17'

355850

Institutional Source

Beutler Lab

Gene Symbol

Btbd17

Ensembl Gene

ENSMUSG00000000202

Gene Name

BTB domain containing 17

Synonyms

1500005I02Rik, Tango10a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4698 (G1)

Quality Score

194

Status

Not validated

Chromosome

Chromosomal Location

114682043-114686771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114682543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 390 (R390G)

Ref Sequence

ENSEMBL: ENSMUSP00000000206 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000206] [ENSMUST00000084368] [ENSMUST00000138804]

AlphaFold

Q9DB72

Predicted Effect

probably damaging
Transcript: ENSMUST00000000206
AA Change: R390G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000206
Gene: ENSMUSG00000000202
AA Change: R390G

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	49	59	N/A	INTRINSIC
BTB	63	162	2.01e-11	SMART
BACK	169	269	8.58e-19	SMART
Blast:BACK	425	460	1e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000084368

SMART Domains

Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021

Domain	Start	End	E-Value	Type
KISc	9	354	4.53e-150	SMART
coiled coil region	361	388	N/A	INTRINSIC
coiled coil region	431	449	N/A	INTRINSIC
coiled coil region	506	551	N/A	INTRINSIC
low complexity region	628	641	N/A	INTRINSIC
low complexity region	750	766	N/A	INTRINSIC
low complexity region	807	815	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137965

Predicted Effect

probably benign
Transcript: ENSMUST00000138340

SMART Domains

Protein: ENSMUSP00000122743
Gene: ENSMUSG00000010021

Domain	Start	End	E-Value	Type
low complexity region	22	38	N/A	INTRINSIC
low complexity region	79	87	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138804

SMART Domains

Protein: ENSMUSP00000115663
Gene: ENSMUSG00000010021

Domain	Start	End	E-Value	Type
KISc	9	312	2.99e-118	SMART
coiled coil region	319	346	N/A	INTRINSIC
coiled coil region	389	407	N/A	INTRINSIC
coiled coil region	464	509	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC
low complexity region	683	692	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156053

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141481

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	G	17: 48,349,049 (GRCm39)	V11A	possibly damaging	Het
6030452D12Rik	T	C	8: 107,230,979 (GRCm39)	I55T	unknown	Het
Aadacl2	A	G	3: 59,932,460 (GRCm39)	D325G	probably benign	Het
Adh1	A	G	3: 137,988,274 (GRCm39)	S113G	probably benign	Het
Agxt2	T	C	15: 10,392,130 (GRCm39)		probably null	Het
Aicda	C	T	6: 122,530,847 (GRCm39)		probably benign	Het
Aifm2	T	C	10: 61,563,535 (GRCm39)	M135T	probably benign	Het
Asah2	T	C	19: 32,031,871 (GRCm39)		probably null	Het
Cadps	T	C	14: 12,705,654 (GRCm38)	E247G	possibly damaging	Het
Cds2	T	C	2: 132,146,873 (GRCm39)	I383T	probably damaging	Het
Celf3	T	A	3: 94,392,174 (GRCm39)		probably null	Het
Crhr2	T	C	6: 55,079,852 (GRCm39)	S162G	possibly damaging	Het
Dapl1	A	T	2: 59,335,118 (GRCm39)	K91*	probably null	Het
Ddx60	A	C	8: 62,465,458 (GRCm39)	M1372L	probably benign	Het
Dnah2	A	T	11: 69,389,358 (GRCm39)	F845I	probably damaging	Het
Dscam	T	C	16: 96,411,524 (GRCm39)	D1784G	probably damaging	Het
Ech1	T	C	7: 28,531,478 (GRCm39)	V310A	probably benign	Het
Eef1g	A	G	19: 8,955,330 (GRCm39)	D393G	possibly damaging	Het
Eif3k	T	C	7: 28,671,969 (GRCm39)	I172V	possibly damaging	Het
Foxd4	A	G	19: 24,877,625 (GRCm39)	F192L	probably damaging	Het
Gpr153	T	A	4: 152,366,240 (GRCm39)	S268R	probably damaging	Het
H3c13	C	A	3: 96,176,394 (GRCm39)	R129S	probably damaging	Het
Ivl	T	C	3: 92,478,698 (GRCm39)	K456E	unknown	Het
Kif20b	A	T	19: 34,928,944 (GRCm39)	D1190V	probably damaging	Het
Kif21a	T	A	15: 90,840,508 (GRCm39)	I1223L	possibly damaging	Het
Lmf1	T	C	17: 25,798,324 (GRCm39)	V55A	probably damaging	Het
Loxhd1	A	G	18: 77,459,987 (GRCm39)	E659G	possibly damaging	Het
Lrrc37a	T	C	11: 103,394,930 (GRCm39)	E165G	possibly damaging	Het
Mios	T	C	6: 8,228,113 (GRCm39)	Y677H	possibly damaging	Het
Mnx1	T	A	5: 29,679,057 (GRCm39)	K342M	unknown	Het
Mtpap	A	T	18: 4,375,724 (GRCm39)	T35S	possibly damaging	Het
Ndc1	C	G	4: 107,268,334 (GRCm39)	D623E	probably benign	Het
Nedd4l	A	G	18: 65,336,951 (GRCm39)	Y666C	probably damaging	Het
Or52s6	T	A	7: 103,091,842 (GRCm39)	I163F	possibly damaging	Het
Or5ac22	T	C	16: 59,135,720 (GRCm39)	T17A	probably damaging	Het
Or5b12b	T	G	19: 12,861,985 (GRCm39)	F247V	probably benign	Het
Or5m10b	A	G	2: 85,699,596 (GRCm39)	Y220C	possibly damaging	Het
Papss1	G	T	3: 131,313,092 (GRCm39)	V369F	probably damaging	Het
Pcdhac2	T	A	18: 37,278,822 (GRCm39)	Y601N	probably damaging	Het
Pde7a	C	T	3: 19,365,095 (GRCm39)	R24Q	probably damaging	Het
Phf21a	A	G	2: 92,187,297 (GRCm39)	D445G	probably damaging	Het
Plekho1	T	A	3: 95,902,964 (GRCm39)	N15I	possibly damaging	Het
Pprc1	T	C	19: 46,057,634 (GRCm39)		probably benign	Het
Ralgapa1	A	T	12: 55,724,061 (GRCm39)		probably null	Het
Rrp12	T	C	19: 41,861,481 (GRCm39)	E942G	probably benign	Het
Skor1	T	C	9: 63,051,830 (GRCm39)	D685G	probably benign	Het
Smim23	A	T	11: 32,774,510 (GRCm39)	I3N	possibly damaging	Het
Spata7	A	T	12: 98,630,536 (GRCm39)	I333F	probably damaging	Het
Sppl2c	T	C	11: 104,079,141 (GRCm39)	I647T	probably benign	Het
Srgap1	C	A	10: 121,628,392 (GRCm39)	R837L	probably benign	Het
Stpg2	C	A	3: 139,014,990 (GRCm39)	P385H	probably damaging	Het
Tmem238	C	A	7: 4,792,016 (GRCm39)	E19*	probably null	Het
Top2b	A	T	14: 16,387,331 (GRCm38)	K140*	probably null	Het
Trp53	T	A	11: 69,479,248 (GRCm39)	L142*	probably null	Het
Tyro3	A	T	2: 119,633,751 (GRCm39)	D133V	probably damaging	Het
Virma	T	A	4: 11,528,636 (GRCm39)	I1291N	probably damaging	Het
Vmn1r213	A	G	13: 23,195,507 (GRCm39)		probably benign	Het
Zbtb10	T	C	3: 9,329,610 (GRCm39)	S323P	possibly damaging	Het
Zfp521	A	T	18: 13,978,660 (GRCm39)	N584K	probably damaging	Het
Zfp944	A	G	17: 22,558,180 (GRCm39)	C356R	probably damaging	Het

Other mutations in Btbd17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01620:Btbd17	APN	11	114,686,599 (GRCm39)	missense	probably benign	0.00
R1713:Btbd17	UTSW	11	114,686,650 (GRCm39)	missense	probably benign	0.03
R2072:Btbd17	UTSW	11	114,682,778 (GRCm39)	splice site	probably null
R2074:Btbd17	UTSW	11	114,682,778 (GRCm39)	splice site	probably null
R2075:Btbd17	UTSW	11	114,682,778 (GRCm39)	splice site	probably null
R4461:Btbd17	UTSW	11	114,684,815 (GRCm39)	missense	possibly damaging	0.83
R4664:Btbd17	UTSW	11	114,684,832 (GRCm39)	missense	probably damaging	1.00
R4667:Btbd17	UTSW	11	114,684,683 (GRCm39)	missense	possibly damaging	0.76
R4888:Btbd17	UTSW	11	114,684,917 (GRCm39)	missense	possibly damaging	0.59
R5250:Btbd17	UTSW	11	114,682,234 (GRCm39)	unclassified	probably benign
R6572:Btbd17	UTSW	11	114,683,046 (GRCm39)	missense	probably damaging	1.00
R6592:Btbd17	UTSW	11	114,682,302 (GRCm39)	missense	probably damaging	1.00
R7141:Btbd17	UTSW	11	114,682,641 (GRCm39)	missense	possibly damaging	0.81
R7215:Btbd17	UTSW	11	114,682,291 (GRCm39)	missense	possibly damaging	0.67
R7986:Btbd17	UTSW	11	114,683,341 (GRCm39)	missense	probably damaging	1.00
R9320:Btbd17	UTSW	11	114,684,910 (GRCm39)	missense	possibly damaging	0.93
R9379:Btbd17	UTSW	11	114,682,749 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- ACCGGCTTGACAATGAGATG -3'
(R):5'- ATCGCAGCACCAGTTTCCAG -3'

Sequencing Primer
(F):5'- ACCAGGTATTCCGAGTTGC -3'
(R):5'- GCACCAGTTTCCAGACGCAG -3'

Posted On

2015-10-21