Mutagenetix > Incidental Mutation

Incidental Mutation 'R4594:Zbtb6'

344243

Institutional Source

Beutler Lab

Gene Symbol

Zbtb6

Ensembl Gene

ENSMUSG00000066798

Gene Name

zinc finger and BTB domain containing 6

Synonyms

A830092L04Rik, Zfp482

MMRRC Submission

041810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37425500-37443171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37429042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 291 (N291K)

Ref Sequence

ENSEMBL: ENSMUSP00000108554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053098] [ENSMUST00000067043] [ENSMUST00000112932]

AlphaFold

Q8K088

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053098
AA Change: N291K

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000056100
Gene: ENSMUSG00000066798
AA Change: N291K

Domain	Start	End	E-Value	Type
BTB	33	127	2.67e-16	SMART
Blast:BTB	161	196	1e-5	BLAST
ZnF_C2H2	300	322	7.15e-2	SMART
ZnF_C2H2	325	347	1.58e-3	SMART
ZnF_C2H2	353	375	3.63e-3	SMART
ZnF_C2H2	381	404	8.81e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000067043

SMART Domains

Protein: ENSMUSP00000070071
Gene: ENSMUSG00000050714

Domain	Start	End	E-Value	Type
BTB	33	127	4.38e-12	SMART
low complexity region	169	179	N/A	INTRINSIC
ZnF_C2H2	273	295	1.36e-2	SMART
ZnF_C2H2	298	320	1.4e-4	SMART
ZnF_C2H2	326	348	2.99e-4	SMART
ZnF_C2H2	354	377	2.09e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112932
AA Change: N291K

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108554
Gene: ENSMUSG00000066798
AA Change: N291K

Domain	Start	End	E-Value	Type
BTB	33	127	2.67e-16	SMART
Blast:BTB	161	196	1e-5	BLAST
ZnF_C2H2	300	322	7.15e-2	SMART
ZnF_C2H2	325	347	1.58e-3	SMART
ZnF_C2H2	353	375	3.63e-3	SMART
ZnF_C2H2	381	404	8.81e-2	SMART

Meta Mutation Damage Score

0.0773

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,575,754 (GRCm38)	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,860,538 (GRCm38)	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,921,447 (GRCm38)	I264N	probably damaging	Het
Alpk1	G	A	3: 127,683,554 (GRCm38)	A285V	probably damaging	Het
Auh	T	C	13: 52,912,966 (GRCm38)		probably benign	Het
BC030499	T	A	11: 78,291,647 (GRCm38)	V94D	possibly damaging	Het
Cacna2d3	A	G	14: 28,982,346 (GRCm38)	F826S	probably benign	Het
Ccdc54	G	T	16: 50,590,017 (GRCm38)	Y295*	probably null	Het
Ctnna3	G	A	10: 64,586,079 (GRCm38)	V551I	probably benign	Het
Diaph3	C	T	14: 86,986,037 (GRCm38)	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842 (GRCm38)		probably benign	Het
Dscam	A	T	16: 96,717,996 (GRCm38)	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,671,266 (GRCm38)	F243S	probably damaging	Het
Fat2	T	C	11: 55,284,752 (GRCm38)	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 25,573,836 (GRCm38)	V793A	probably damaging	Het
Got2	T	C	8: 95,872,186 (GRCm38)	E196G	probably benign	Het
Gsk3b	G	A	16: 38,170,701 (GRCm38)	C107Y	possibly damaging	Het
H2-M5	T	C	17: 36,987,805 (GRCm38)	T250A	possibly damaging	Het
Il17f	T	A	1: 20,777,802 (GRCm38)	T151S	probably damaging	Het
Ints12	A	G	3: 133,108,868 (GRCm38)	N279D	probably benign	Het
Kcnd3	C	T	3: 105,658,766 (GRCm38)	A421V	probably damaging	Het
Kynu	T	A	2: 43,679,890 (GRCm38)	S395T	probably benign	Het
Llgl1	C	T	11: 60,706,321 (GRCm38)	T226I	probably benign	Het
Mael	T	A	1: 166,235,487 (GRCm38)	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,018,652 (GRCm38)	R49S	probably benign	Het
Meioc	G	T	11: 102,674,166 (GRCm38)	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317 (GRCm38)	S46P	probably benign	Het
Muc6	G	T	7: 141,638,772 (GRCm38)	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,547,432 (GRCm38)	Y268*	probably null	Het
Myom1	A	G	17: 71,100,074 (GRCm38)	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,392,847 (GRCm38)		probably null	Het
Nfe2	A	G	15: 103,248,805 (GRCm38)	L253S	probably damaging	Het
Nup205	T	C	6: 35,196,489 (GRCm38)	I478T	probably benign	Het
Nxpe2	T	C	9: 48,319,482 (GRCm38)	D529G	probably damaging	Het
Oard1	T	C	17: 48,415,239 (GRCm38)	S88P	possibly damaging	Het
Olfr1370	C	T	13: 21,072,522 (GRCm38)	V260I	probably benign	Het
Olfr231	G	T	1: 174,117,320 (GRCm38)	T232N	probably damaging	Het
Olfr639	T	C	7: 104,012,417 (GRCm38)	D95G	probably benign	Het
Olfr678	T	C	7: 105,069,590 (GRCm38)	V41A	probably benign	Het
Olfr732	G	A	14: 50,281,683 (GRCm38)	T190I	probably benign	Het
Olfr741	A	G	14: 50,486,162 (GRCm38)	R235G	probably benign	Het
Olfr906	A	C	9: 38,488,761 (GRCm38)	H244P	probably damaging	Het
Osgin1	C	T	8: 119,445,253 (GRCm38)	T262I	possibly damaging	Het
Plcb4	A	T	2: 136,002,599 (GRCm38)	M146L	probably damaging	Het
Prkdc	A	T	16: 15,767,966 (GRCm38)	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,206,196 (GRCm38)	A1004V	probably damaging	Het
Rab15	G	A	12: 76,800,671 (GRCm38)		probably benign	Het
Rad51ap2	T	C	12: 11,457,880 (GRCm38)	V601A	probably benign	Het
Rasef	T	A	4: 73,780,389 (GRCm38)	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,394,567 (GRCm38)	N139K	probably damaging	Het
Rexo2	A	T	9: 48,480,417 (GRCm38)	V46E	probably damaging	Het
Slmap	A	T	14: 26,465,617 (GRCm38)	L68H	probably damaging	Het
Speer3	C	G	5: 13,796,380 (GRCm38)	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,435,068 (GRCm38)	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,836,948 (GRCm38)	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,086,435 (GRCm38)	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,073,969 (GRCm38)	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,393,662 (GRCm38)	D548V	probably damaging	Het
Wdr81	T	C	11: 75,445,794 (GRCm38)	N1590D	probably benign	Het
Zfp119a	G	A	17: 55,866,325 (GRCm38)	R173C	probably benign	Het
Zmynd15	T	C	11: 70,464,182 (GRCm38)	L335P	probably damaging	Het

Other mutations in Zbtb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01951:Zbtb6	APN	2	37,429,331 (GRCm38)	missense	probably benign	0.38
IGL02981:Zbtb6	APN	2	37,429,164 (GRCm38)	nonsense	probably null
IGL03390:Zbtb6	APN	2	37,429,572 (GRCm38)	missense	probably damaging	1.00
R0164:Zbtb6	UTSW	2	37,429,588 (GRCm38)	nonsense	probably null
R0164:Zbtb6	UTSW	2	37,429,588 (GRCm38)	nonsense	probably null
R0470:Zbtb6	UTSW	2	37,429,493 (GRCm38)	missense	probably damaging	0.99
R1472:Zbtb6	UTSW	2	37,429,344 (GRCm38)	missense	probably benign
R1606:Zbtb6	UTSW	2	37,429,118 (GRCm38)	missense	probably benign	0.00
R1824:Zbtb6	UTSW	2	37,429,817 (GRCm38)	missense	probably damaging	1.00
R4838:Zbtb6	UTSW	2	37,428,716 (GRCm38)	nonsense	probably null
R5000:Zbtb6	UTSW	2	37,429,239 (GRCm38)	missense	probably benign
R5816:Zbtb6	UTSW	2	37,429,215 (GRCm38)	missense	probably benign	0.01
R6005:Zbtb6	UTSW	2	37,428,965 (GRCm38)	missense	probably damaging	1.00
R6152:Zbtb6	UTSW	2	37,429,243 (GRCm38)	missense	probably benign	0.18
R6390:Zbtb6	UTSW	2	37,428,678 (GRCm38)	missense	probably benign	0.01
R7657:Zbtb6	UTSW	2	37,429,075 (GRCm38)	missense	probably benign
R7866:Zbtb6	UTSW	2	37,429,565 (GRCm38)	missense	probably damaging	1.00
R8310:Zbtb6	UTSW	2	37,429,884 (GRCm38)	missense	probably benign	0.00
R8969:Zbtb6	UTSW	2	37,428,665 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAGTGGTCCTGAAGTGTGC -3'
(R):5'- GCAGTTTTCACAGCCTTGTACC -3'

Sequencing Primer
(F):5'- AGTACACTGAAAGGGCCTTATAC -3'
(R):5'- TTGTACCTCATCCAAAGCAGG -3'

Posted On

2015-09-25