Mutagenetix > Incidental Mutation

Incidental Mutation 'R5816:Zbtb6'

449030

Institutional Source

Beutler Lab

Gene Symbol

Zbtb6

Ensembl Gene

ENSMUSG00000066798

Gene Name

zinc finger and BTB domain containing 6

Synonyms

Zfp482, A830092L04Rik

MMRRC Submission

043214-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R5816 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37315512-37320931 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37319227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 234 (F234I)

Ref Sequence

ENSEMBL: ENSMUSP00000108554 (fasta)

Gene Model

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

AlphaFold

Q8K088

Predicted Effect

probably benign
Transcript: ENSMUST00000053098
AA Change: F234I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000056100
Gene: ENSMUSG00000066798
AA Change: F234I

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

probably benign
Transcript: ENSMUST00000112932
AA Change: F234I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000108554
Gene: ENSMUSG00000066798
AA Change: F234I

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,234,563 (GRCm39)	D1501G	probably damaging	Het
Aldh8a1	A	T	10: 21,271,329 (GRCm39)	I352F	probably damaging	Het
Bend7	G	A	2: 4,749,143 (GRCm39)	E87K	probably damaging	Het
Bend7	A	G	2: 4,757,710 (GRCm39)	R251G	probably benign	Het
Cep72	A	T	13: 74,197,150 (GRCm39)	S402T	probably benign	Het
Cer1	A	G	4: 82,801,120 (GRCm39)	V181A	probably damaging	Het
Ces1b	T	C	8: 93,799,890 (GRCm39)	N162S	probably benign	Het
Cyp1a2	T	C	9: 57,588,336 (GRCm39)	N296S	probably benign	Het
Cyria	A	G	12: 12,408,166 (GRCm39)	D64G	probably benign	Het
Dst	C	T	1: 34,218,315 (GRCm39)	A1585V	probably benign	Het
Dzip1	G	A	14: 119,146,892 (GRCm39)	P339L	probably benign	Het
Eif4enif1	T	C	11: 3,192,401 (GRCm39)	I568T	probably benign	Het
Eif5a	C	T	11: 69,808,499 (GRCm39)	R109Q	possibly damaging	Het
Foxj2	G	A	6: 122,810,695 (GRCm39)	S225N	probably benign	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,926 (GRCm39)		probably benign	Het
Galnt14	T	C	17: 73,881,877 (GRCm39)	Y74C	probably damaging	Het
Glrb	T	A	3: 80,769,286 (GRCm39)	N147I	probably damaging	Het
Grb14	A	T	2: 64,747,628 (GRCm39)	M377K	probably damaging	Het
Kcng1	C	T	2: 168,110,643 (GRCm39)	E174K	possibly damaging	Het
Kdm3b	A	C	18: 34,961,522 (GRCm39)	E1433A	probably damaging	Het
Matn3	G	A	12: 9,020,571 (GRCm39)	R481H	probably damaging	Het
Mcm6	A	G	1: 128,276,192 (GRCm39)	V331A	probably benign	Het
Mdga2	T	C	12: 66,701,956 (GRCm39)	Y415C	probably damaging	Het
Med11	T	C	11: 70,343,111 (GRCm39)	S65P	probably damaging	Het
Metrnl	T	A	11: 121,598,938 (GRCm39)	S166T	probably benign	Het
Mllt6	A	G	11: 97,563,400 (GRCm39)	K328E	probably damaging	Het
Nek5	T	C	8: 22,586,752 (GRCm39)	K353R	probably benign	Het
Or52ab4	A	G	7: 102,988,202 (GRCm39)	T314A	probably benign	Het
Or8g52	T	A	9: 39,630,526 (GRCm39)	M1K	probably null	Het
Pfkl	A	T	10: 77,837,856 (GRCm39)	N46K	possibly damaging	Het
Phactr3	A	G	2: 177,944,586 (GRCm39)	E428G	probably damaging	Het
Pkhd1	T	C	1: 20,128,902 (GRCm39)	S3934G	probably benign	Het
Pkhd1l1	A	G	15: 44,429,718 (GRCm39)	D3312G	probably benign	Het
Prmt8	G	A	6: 127,674,701 (GRCm39)	T309I	probably benign	Het
Psd3	A	T	8: 68,413,162 (GRCm39)	V742E	possibly damaging	Het
S100a14	A	G	3: 90,435,157 (GRCm39)	H56R	probably damaging	Het
Scaf8	T	A	17: 3,227,988 (GRCm39)	S406T	unknown	Het
Slc26a4	G	T	12: 31,578,684 (GRCm39)	H656Q	probably damaging	Het
Smarcc1	T	C	9: 110,026,712 (GRCm39)	V724A	possibly damaging	Het
Thbs2	C	T	17: 14,904,333 (GRCm39)		probably null	Het
Zfp536	C	T	7: 37,180,053 (GRCm39)	D851N	probably damaging	Het

Other mutations in Zbtb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01951:Zbtb6	APN	2	37,319,343 (GRCm39)	missense	probably benign	0.38
IGL02981:Zbtb6	APN	2	37,319,176 (GRCm39)	nonsense	probably null
IGL03390:Zbtb6	APN	2	37,319,584 (GRCm39)	missense	probably damaging	1.00
R0164:Zbtb6	UTSW	2	37,319,600 (GRCm39)	nonsense	probably null
R0164:Zbtb6	UTSW	2	37,319,600 (GRCm39)	nonsense	probably null
R0470:Zbtb6	UTSW	2	37,319,505 (GRCm39)	missense	probably damaging	0.99
R1472:Zbtb6	UTSW	2	37,319,356 (GRCm39)	missense	probably benign
R1606:Zbtb6	UTSW	2	37,319,130 (GRCm39)	missense	probably benign	0.00
R1824:Zbtb6	UTSW	2	37,319,829 (GRCm39)	missense	probably damaging	1.00
R4594:Zbtb6	UTSW	2	37,319,054 (GRCm39)	missense	possibly damaging	0.71
R4838:Zbtb6	UTSW	2	37,318,728 (GRCm39)	nonsense	probably null
R5000:Zbtb6	UTSW	2	37,319,251 (GRCm39)	missense	probably benign
R6005:Zbtb6	UTSW	2	37,318,977 (GRCm39)	missense	probably damaging	1.00
R6152:Zbtb6	UTSW	2	37,319,255 (GRCm39)	missense	probably benign	0.18
R6390:Zbtb6	UTSW	2	37,318,690 (GRCm39)	missense	probably benign	0.01
R7657:Zbtb6	UTSW	2	37,319,087 (GRCm39)	missense	probably benign
R7866:Zbtb6	UTSW	2	37,319,577 (GRCm39)	missense	probably damaging	1.00
R8310:Zbtb6	UTSW	2	37,319,896 (GRCm39)	missense	probably benign	0.00
R8969:Zbtb6	UTSW	2	37,318,677 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAATCCCCTTGGACACCTG -3'
(R):5'- TTTCCATGTCAAAGAGGAGGAAAGC -3'

Sequencing Primer
(F):5'- CTGATGCCTCAAGGAAAAATTCTC -3'
(R):5'- GCAATGCATTACAATCTGCTGCAG -3'

Posted On

2016-12-20