Mutagenetix > Incidental Mutation

Incidental Mutation 'R9741:Btbd6'

731845

Institutional Source

Beutler Lab

Gene Symbol

Btbd6

Ensembl Gene

ENSMUSG00000002803

Gene Name

BTB domain containing 6

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R9741 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112940102-112942565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112940923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 173 (D173E)

Ref Sequence

ENSEMBL: ENSMUSP00000002880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002880] [ENSMUST00000011302] [ENSMUST00000165079] [ENSMUST00000221104] [ENSMUST00000221500] [ENSMUST00000222209] [ENSMUST00000223287] [ENSMUST00000223368]

AlphaFold

Q8K2J9

Predicted Effect

probably benign
Transcript: ENSMUST00000002880
AA Change: D173E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000002880
Gene: ENSMUSG00000002803
AA Change: D173E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	25	40	N/A	INTRINSIC
low complexity region	43	55	N/A	INTRINSIC
low complexity region	58	68	N/A	INTRINSIC
low complexity region	86	106	N/A	INTRINSIC
BTB	137	237	1.39e-23	SMART
BACK	243	352	2.81e-14	SMART
Pfam:PHR	393	538	1.2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000011302

SMART Domains

Protein: ENSMUSP00000011302
Gene: ENSMUSG00000011158

Domain	Start	End	E-Value	Type
Pfam:TF_Zn_Ribbon	4	46	4.3e-17	PFAM
CYCLIN	91	172	1.93e-12	SMART
CYCLIN	185	269	1.22e-9	SMART
coiled coil region	298	334	N/A	INTRINSIC
low complexity region	362	374	N/A	INTRINSIC
low complexity region	431	444	N/A	INTRINSIC
Pfam:BRF1	452	545	3.3e-29	PFAM
low complexity region	638	650	N/A	INTRINSIC
low complexity region	662	675	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165079
AA Change: D122E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127286
Gene: ENSMUSG00000002803
AA Change: D122E

Domain	Start	End	E-Value	Type
low complexity region	7	17	N/A	INTRINSIC
low complexity region	35	55	N/A	INTRINSIC
BTB	86	186	1.39e-23	SMART
BACK	192	301	2.81e-14	SMART
Pfam:PHR	342	488	8.7e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000221104
AA Change: D122E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000221500

Predicted Effect

unknown
Transcript: ENSMUST00000222209
AA Change: I92N

Predicted Effect

unknown
Transcript: ENSMUST00000223287
AA Change: I92N

Predicted Effect

probably benign
Transcript: ENSMUST00000223368
AA Change: D100E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd6	T	A	4: 32,860,339 (GRCm39)	K35*	probably null	Het
Apoc3	G	T	9: 46,145,998 (GRCm39)	T5K	unknown	Het
Arhgap20	T	A	9: 51,760,730 (GRCm39)	Y860*	probably null	Het
Arhgef11	T	C	3: 87,595,156 (GRCm39)	S123P	probably benign	Het
Armh4	A	G	14: 50,008,081 (GRCm39)	I464T	probably benign	Het
Axdnd1	T	A	1: 156,169,385 (GRCm39)	Y827F	probably benign	Het
Bbs5	A	G	2: 69,484,695 (GRCm39)	T122A	probably benign	Het
Cblb	T	C	16: 51,932,490 (GRCm39)	I149T	probably damaging	Het
Cyp2ab1	G	A	16: 20,132,953 (GRCm39)	R214C	probably damaging	Het
Dbn1	C	T	13: 55,624,114 (GRCm39)	S372N	possibly damaging	Het
Dlg1	T	A	16: 31,676,735 (GRCm39)	Y776*	probably null	Het
Dock9	A	T	14: 121,877,516 (GRCm39)	I409N	probably damaging	Het
Ect2	A	T	3: 27,156,607 (GRCm39)	N815K	probably benign	Het
Fbxw11	G	T	11: 32,685,358 (GRCm39)	V398L	probably damaging	Het
Gcsam	T	C	16: 45,436,319 (GRCm39)	F34S	possibly damaging	Het
Ghsr	G	A	3: 27,428,898 (GRCm39)	V308I	possibly damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
H1f10	A	G	6: 87,958,200 (GRCm39)	Y47H	probably damaging	Het
Hspg2	T	C	4: 137,239,962 (GRCm39)	F510S	probably damaging	Het
Htr1a	T	C	13: 105,581,861 (GRCm39)	V367A	possibly damaging	Het
Iars1	T	G	13: 49,844,978 (GRCm39)	F163C	probably damaging	Het
Igfn1	T	C	1: 135,895,383 (GRCm39)	T1728A	probably benign	Het
Ighv7-3	C	T	12: 114,116,995 (GRCm39)	V56I	probably benign	Het
Lrp1b	A	T	2: 41,002,300 (GRCm39)	I2133N		Het
Lrrc37	T	C	11: 103,504,255 (GRCm39)	E2571G	possibly damaging	Het
Or2d2	A	G	7: 106,728,366 (GRCm39)	V78A	possibly damaging	Het
Or52z1	G	T	7: 103,436,941 (GRCm39)	P181H	probably benign	Het
Pkd1l1	T	C	11: 8,897,224 (GRCm39)	T562A		Het
Ppp1r10	G	A	17: 36,237,331 (GRCm39)	R167Q	possibly damaging	Het
Ppp1r13l	C	T	7: 19,103,725 (GRCm39)	R69W	probably damaging	Het
Proser2	G	A	2: 6,105,580 (GRCm39)	A328V	probably benign	Het
Rhou	A	G	8: 124,380,914 (GRCm39)	Y77C	possibly damaging	Het
Rprml	T	A	11: 103,540,857 (GRCm39)	L84Q	probably damaging	Het
Ryr3	C	T	2: 112,477,271 (GRCm39)	C4515Y	probably benign	Het
Slc9a3	T	A	13: 74,306,994 (GRCm39)	I373N	possibly damaging	Het
Snx21	C	T	2: 164,634,231 (GRCm39)	A339V	probably benign	Het
Srpk1	G	A	17: 28,818,652 (GRCm39)	P395S	probably benign	Het
Syt14	A	T	1: 192,666,449 (GRCm39)	S152T	unknown	Het
Urb2	G	T	8: 124,755,751 (GRCm39)	R486L	probably damaging	Het
Utrn	T	A	10: 12,702,564 (GRCm39)	M7L	probably benign	Het
Vmn2r59	T	A	7: 41,708,209 (GRCm39)	D66V	probably damaging	Het
Znrf2	T	C	6: 54,855,370 (GRCm39)	I197T	probably damaging	Het

Other mutations in Btbd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02264:Btbd6	APN	12	112,940,589 (GRCm39)	missense	probably damaging	1.00
IGL03098:Btbd6	UTSW	12	112,942,038 (GRCm39)	missense	probably damaging	1.00
R0544:Btbd6	UTSW	12	112,940,702 (GRCm39)	missense	probably damaging	1.00
R2065:Btbd6	UTSW	12	112,941,755 (GRCm39)	missense	probably damaging	1.00
R2424:Btbd6	UTSW	12	112,941,980 (GRCm39)	missense	probably benign	0.00
R4241:Btbd6	UTSW	12	112,940,416 (GRCm39)	missense	probably benign
R5363:Btbd6	UTSW	12	112,941,756 (GRCm39)	missense	probably damaging	1.00
R6478:Btbd6	UTSW	12	112,940,932 (GRCm39)	unclassified	probably benign
R7063:Btbd6	UTSW	12	112,941,132 (GRCm39)	missense	probably damaging	1.00
R8901:Btbd6	UTSW	12	112,940,220 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGACGTCCACTTCATCGTG -3'
(R):5'- ATCGCTGTACATGTACCTGC -3'

Sequencing Primer
(F):5'- ACTTCATCGTGGGGGCTC -3'
(R):5'- ATCGCTGTACATGTACCTGCGTAAG -3'

Posted On

2022-11-14