Mutagenetix > Incidental Mutation

Incidental Mutation 'R5250:Btbd17'

398973

Institutional Source

Beutler Lab

Gene Symbol

Btbd17

Ensembl Gene

ENSMUSG00000000202

Gene Name

BTB domain containing 17

Synonyms

1500005I02Rik, Tango10a

MMRRC Submission

042821-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5250 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114682043-114686771 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 114682234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115663 (fasta)

Gene Model

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

AlphaFold

Q9DB72

Predicted Effect

probably benign
Transcript: ENSMUST00000000206

SMART Domains

Protein: ENSMUSP00000000206
Gene: ENSMUSG00000000202

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: ENSMUST00000156053

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141481

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,135,182 (GRCm39)	K236*	probably null	Het
Adgre5	A	G	8: 84,460,069 (GRCm39)	V109A	probably benign	Het
Adora2a	T	C	10: 75,161,882 (GRCm39)	I7T	probably damaging	Het
Ankrd6	A	G	4: 32,860,335 (GRCm39)	V36A	probably damaging	Het
Arhgef2	T	C	3: 88,540,955 (GRCm39)		probably null	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
Atg2b	G	A	12: 105,602,024 (GRCm39)	R1651W	probably damaging	Het
Atp6v0a1	T	A	11: 100,933,870 (GRCm39)	V553D	possibly damaging	Het
Bard1	G	A	1: 71,113,722 (GRCm39)	L420F	probably damaging	Het
Bcat1	C	G	6: 144,993,165 (GRCm39)		probably null	Het
Bpifb5	A	T	2: 154,066,881 (GRCm39)	N45Y	probably benign	Het
Ccdc24	T	C	4: 117,726,826 (GRCm39)	T296A	possibly damaging	Het
Col11a1	A	G	3: 114,010,819 (GRCm39)		probably benign	Het
Cspg4b	A	G	13: 113,456,305 (GRCm39)	N784D	possibly damaging	Het
Dhx38	A	T	8: 110,283,152 (GRCm39)	V555D	probably damaging	Het
Dixdc1	T	G	9: 50,595,035 (GRCm39)	E230A	possibly damaging	Het
Dnah7b	T	G	1: 46,412,514 (GRCm39)	V4041G	probably damaging	Het
Dnhd1	A	T	7: 105,334,968 (GRCm39)	I1021L	probably damaging	Het
Fgl2	A	G	5: 21,580,521 (GRCm39)	S288G	possibly damaging	Het
Flt4	T	A	11: 49,521,227 (GRCm39)	I412N	possibly damaging	Het
Gabrb1	A	G	5: 72,026,922 (GRCm39)	I141V	possibly damaging	Het
Gpc2	A	G	5: 138,277,230 (GRCm39)	Y66H	probably damaging	Het
Hoxd3	C	T	2: 74,574,650 (GRCm39)	Q99*	probably null	Het
Inpp5d	T	C	1: 87,637,397 (GRCm39)	V781A	probably damaging	Het
Larp4b	T	C	13: 9,221,013 (GRCm39)		probably benign	Het
Lrrfip1	T	A	1: 91,043,618 (GRCm39)	S674R	possibly damaging	Het
Megf6	A	G	4: 154,340,467 (GRCm39)	T561A	possibly damaging	Het
Mpo	A	T	11: 87,694,259 (GRCm39)	Q83L	probably benign	Het
Mucl2	T	C	15: 103,927,733 (GRCm39)	N75D	possibly damaging	Het
Myh13	C	T	11: 67,218,085 (GRCm39)	Q53*	probably null	Het
Myot	T	A	18: 44,479,137 (GRCm39)	D291E	probably damaging	Het
Nae1	A	G	8: 105,257,023 (GRCm39)		probably null	Het
Ncoa2	A	T	1: 13,294,913 (GRCm39)	S2R	probably damaging	Het
Nktr	T	A	9: 121,578,858 (GRCm39)		probably benign	Het
Nrxn1	A	G	17: 90,842,869 (GRCm39)		probably benign	Het
Or10aa3	T	G	1: 173,878,838 (GRCm39)	F300V	probably benign	Het
Or14j4	A	G	17: 37,920,851 (GRCm39)	S264P	probably damaging	Het
Or5an1b	T	C	19: 12,299,430 (GRCm39)	T254A	probably benign	Het
P2rx2	T	C	5: 110,489,454 (GRCm39)	E160G	probably damaging	Het
Pcdhga11	A	T	18: 37,890,990 (GRCm39)	D666V	probably damaging	Het
Pcm1	A	T	8: 41,765,242 (GRCm39)	E1484D	probably damaging	Het
Pdia4	C	T	6: 47,773,619 (GRCm39)	A577T	possibly damaging	Het
Potefam1	T	G	2: 111,058,422 (GRCm39)	T124P	possibly damaging	Het
Ppm1e	T	C	11: 87,121,744 (GRCm39)	I738V	probably benign	Het
Ppp1r13b	G	T	12: 111,811,394 (GRCm39)	R165S	probably benign	Het
Rasgrp2	T	C	19: 6,454,343 (GRCm39)	W129R	probably damaging	Het
Smurf2	A	G	11: 106,747,005 (GRCm39)		probably null	Het
Spmap1	C	A	11: 97,663,553 (GRCm39)	W99L	possibly damaging	Het
Ubr2	G	T	17: 47,241,368 (GRCm39)	Q1729K	probably benign	Het
Zfp260	T	A	7: 29,804,392 (GRCm39)	H97Q	probably damaging	Het
Zfp429	G	T	13: 67,538,638 (GRCm39)	R269S	probably benign	Het
Zfp568	T	C	7: 29,716,655 (GRCm39)	V185A	probably benign	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
R4698:Btbd17	UTSW	11	114,682,543 (GRCm39)	missense	probably damaging	1.00
R4888:Btbd17	UTSW	11	114,684,917 (GRCm39)	missense	possibly damaging	0.59
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'- TGAGCATCGGTTTATTCTGTACC -3'
(R):5'- TCCAGAAGACAGTGCTGGTG -3'

Sequencing Primer
(F):5'- ATTCTGTACCAAGAATGCTGCC -3'
(R):5'- TTCCATCAAAGCAGCGAAGAAG -3'

Posted On

2016-07-06