Mutagenetix > Incidental Mutation

Incidental Mutation 'R6390:Zbtb6'

515718

Institutional Source

Beutler Lab

Gene Symbol

Zbtb6

Ensembl Gene

ENSMUSG00000066798

Gene Name

zinc finger and BTB domain containing 6

Synonyms

A830092L04Rik, Zfp482

MMRRC Submission

044539-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R6390 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37425500-37443171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37428678 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 413 (S413T)

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: S413T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000056100
Gene: ENSMUSG00000066798
AA Change: S413T

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: S413T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000108554
Gene: ENSMUSG00000066798
AA Change: S413T

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

0.0579

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg9a	G	T	1: 75,187,981	P113Q	probably damaging	Het
Ccdc150	A	G	1: 54,368,017	D1073G	probably benign	Het
Cd8a	A	G	6: 71,373,929	Y126C	probably damaging	Het
Cdca8	A	G	4: 124,936,375	M68T	probably damaging	Het
Cyp2d26	G	A	15: 82,792,624	P174S	possibly damaging	Het
Esco1	T	G	18: 10,567,528	N311H	probably damaging	Het
Evx1	A	G	6: 52,315,857	M183V	probably benign	Het
Fam111a	T	G	19: 12,588,160	Y424*	probably null	Het
Fat4	T	C	3: 38,980,380	I2727T	probably damaging	Het
Ggt6	T	A	11: 72,436,611	Y107N	possibly damaging	Het
Habp2	G	C	19: 56,306,823	E49Q	possibly damaging	Het
Hibadh	A	C	6: 52,556,489	L214R	probably damaging	Het
Ift57	T	G	16: 49,762,473		probably null	Het
Irak4	T	C	15: 94,561,486	S328P	probably damaging	Het
Krtap6-2	A	T	16: 89,419,946	Y44*	probably null	Het
Lrrc46	T	C	11: 97,040,931	T22A	probably damaging	Het
Muc2	G	T	7: 141,752,146	V230L	probably damaging	Het
Ncan	T	C	8: 70,115,249	D71G	probably benign	Het
Nsd2	T	C	5: 33,881,181	S779P	probably damaging	Het
Rps6ka5	G	T	12: 100,570,992	T493K	probably damaging	Het
Slc6a21	A	T	7: 45,287,002	M135L	probably benign	Het
Sprtn	A	G	8: 124,903,219	N417S	probably benign	Het
Trim61	T	A	8: 65,014,190	M140L	probably benign	Het
Vars	C	A	17: 35,015,639	A1148E	probably benign	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het
Vmn2r112	T	C	17: 22,605,249	V495A	probably benign	Het
Vmn2r117	A	T	17: 23,460,114	V712E	possibly damaging	Het
Wdfy4	T	C	14: 33,104,094	D1200G	probably damaging	Het
Wdr63	A	G	3: 146,095,388	L105P	probably damaging	Het
Zp2	G	T	7: 120,141,230	N170K	probably benign	Het

Other mutations in Zbtb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01951:Zbtb6	APN	2	37429331	missense	probably benign	0.38
IGL02981:Zbtb6	APN	2	37429164	nonsense	probably null
IGL03390:Zbtb6	APN	2	37429572	missense	probably damaging	1.00
R0164:Zbtb6	UTSW	2	37429588	nonsense	probably null
R0164:Zbtb6	UTSW	2	37429588	nonsense	probably null
R0470:Zbtb6	UTSW	2	37429493	missense	probably damaging	0.99
R1472:Zbtb6	UTSW	2	37429344	missense	probably benign
R1606:Zbtb6	UTSW	2	37429118	missense	probably benign	0.00
R1824:Zbtb6	UTSW	2	37429817	missense	probably damaging	1.00
R4594:Zbtb6	UTSW	2	37429042	missense	possibly damaging	0.71
R4838:Zbtb6	UTSW	2	37428716	nonsense	probably null
R5000:Zbtb6	UTSW	2	37429239	missense	probably benign
R5816:Zbtb6	UTSW	2	37429215	missense	probably benign	0.01
R6005:Zbtb6	UTSW	2	37428965	missense	probably damaging	1.00
R6152:Zbtb6	UTSW	2	37429243	missense	probably benign	0.18
R7657:Zbtb6	UTSW	2	37429075	missense	probably benign
R7866:Zbtb6	UTSW	2	37429565	missense	probably damaging	1.00
R8310:Zbtb6	UTSW	2	37429884	missense	probably benign	0.00
R8969:Zbtb6	UTSW	2	37428665	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTACTCCTGAACAGAGGACTAATAC -3'
(R):5'- GGCCCTTTCAGTGTACTGTG -3'

Sequencing Primer
(F):5'- TAAACTTAATCACACCACCAACTTTG -3'
(R):5'- CAGTGTACTGTGTGTTTAAAGACC -3'

Posted On

2018-05-04