Mutagenetix > Incidental Mutation

Incidental Mutation 'R6811:Zbtb47'

533812

Institutional Source

Beutler Lab

Gene Symbol

Zbtb47

Ensembl Gene

ENSMUSG00000013419

Gene Name

zinc finger and BTB domain containing 47

Synonyms

4732420M22Rik, Zfp651

MMRRC Submission

045018-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R6811 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121588396-121600808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121595595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 573 (S573P)

Ref Sequence

ENSEMBL: ENSMUSP00000091286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093772]

AlphaFold

E9PZ11

Predicted Effect

probably damaging
Transcript: ENSMUST00000093772
AA Change: S573P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091286
Gene: ENSMUSG00000013419
AA Change: S573P

Domain	Start	End	E-Value	Type
BTB	45	141	3.69e-19	SMART
low complexity region	159	164	N/A	INTRINSIC
low complexity region	197	210	N/A	INTRINSIC
low complexity region	217	231	N/A	INTRINSIC
low complexity region	302	339	N/A	INTRINSIC
low complexity region	355	372	N/A	INTRINSIC
ZnF_C2H2	447	470	1.28e-3	SMART
ZnF_C2H2	474	494	8.4e1	SMART
ZnF_C2H2	501	524	1.76e-1	SMART
ZnF_C2H2	531	553	3.34e-2	SMART
ZnF_C2H2	559	581	6.78e-3	SMART
ZnF_C2H2	587	609	3.63e-3	SMART
ZnF_C2H2	615	637	1.95e-3	SMART
ZnF_C2H2	643	665	6.62e-6	SMART
ZnF_C2H2	671	698	4.16e1	SMART

Predicted Effect

silent
Transcript: ENSMUST00000214732

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.1%
20x: 97.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,401,210 (GRCm39)	S69P	probably damaging	Het
Alkbh7	G	T	17: 57,304,392 (GRCm39)	R10L	probably benign	Het
Ano3	T	C	2: 110,711,212 (GRCm39)	E84G	probably benign	Het
Asxl3	A	G	18: 22,655,968 (GRCm39)	E1326G	possibly damaging	Het
Atrnl1	T	G	19: 57,643,393 (GRCm39)	M427R	probably damaging	Het
Cenpf	T	C	1: 189,386,739 (GRCm39)	E1847G	probably benign	Het
Csf1r	T	C	18: 61,252,125 (GRCm39)	Y536H	probably damaging	Het
Dnm3	T	C	1: 162,148,652 (GRCm39)	K240E	probably damaging	Het
Dsc1	T	G	18: 20,222,711 (GRCm39)	E587A	probably benign	Het
Gm19410	C	A	8: 36,239,733 (GRCm39)	A143E	probably damaging	Het
Gm19965	G	T	1: 116,731,809 (GRCm39)	L38F	probably damaging	Het
Helz	T	C	11: 107,510,144 (GRCm39)		probably null	Het
Herc2	C	T	7: 55,763,181 (GRCm39)	R929*	probably null	Het
Iqcn	T	C	8: 71,169,422 (GRCm39)	S1171P	probably benign	Het
Krt31	A	G	11: 99,939,242 (GRCm39)	L225P	probably damaging	Het
Lrp1b	T	C	2: 40,605,512 (GRCm39)		probably null	Het
Lrp1b	A	G	2: 41,339,206 (GRCm39)	V765A	probably benign	Het
Lsm5	A	G	6: 56,679,127 (GRCm39)	I34T	possibly damaging	Het
Ly6g6c	T	C	17: 35,288,386 (GRCm39)	L86P	probably damaging	Het
Meak7	A	T	8: 120,495,029 (GRCm39)	I243N	possibly damaging	Het
Megf11	A	G	9: 64,451,923 (GRCm39)	T116A	probably damaging	Het
Megf6	T	C	4: 154,336,618 (GRCm39)	C190R	probably damaging	Het
Mroh9	A	G	1: 162,873,610 (GRCm39)	V515A	possibly damaging	Het
Mtbp	C	A	15: 55,469,942 (GRCm39)		probably null	Het
Myo9b	T	A	8: 71,809,222 (GRCm39)	F1810L	probably damaging	Het
Nacad	T	G	11: 6,549,400 (GRCm39)	K180Q	possibly damaging	Het
Ncf2	G	A	1: 152,711,791 (GRCm39)	V502I	probably benign	Het
Npsr1	T	A	9: 24,046,105 (GRCm39)	C75S	probably benign	Het
Oog3	T	C	4: 143,886,152 (GRCm39)	T149A	probably benign	Het
Pank1	T	A	19: 34,818,422 (GRCm39)	Q39L	probably benign	Het
Pdx1	T	C	5: 147,211,474 (GRCm39)	S232P	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pirb	A	T	7: 3,722,641 (GRCm39)	V117E	possibly damaging	Het
Ppl	G	A	16: 4,907,008 (GRCm39)	L1096F	probably damaging	Het
Rev3l	T	A	10: 39,706,917 (GRCm39)	Y2223*	probably null	Het
Slc16a4	A	G	3: 107,206,233 (GRCm39)	Y101C	probably benign	Het
Slc17a3	A	T	13: 24,039,924 (GRCm39)	I321F	possibly damaging	Het
Sufu	T	A	19: 46,438,317 (GRCm39)	D168E	probably damaging	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Vmn1r237	T	G	17: 21,534,648 (GRCm39)	S124A	probably benign	Het
Vmn2r60	T	A	7: 41,844,310 (GRCm39)	C558S	probably damaging	Het
Vwa5b1	G	A	4: 138,319,414 (GRCm39)	T414I	probably benign	Het
Zfp971	T	G	2: 177,675,674 (GRCm39)	C424W	possibly damaging	Het

Other mutations in Zbtb47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01913:Zbtb47	APN	9	121,593,035 (GRCm39)	missense	probably damaging	1.00
R0193:Zbtb47	UTSW	9	121,596,732 (GRCm39)	missense	probably damaging	0.98
R0270:Zbtb47	UTSW	9	121,596,641 (GRCm39)	missense	probably benign	0.27
R0347:Zbtb47	UTSW	9	121,592,168 (GRCm39)	missense	probably damaging	1.00
R0654:Zbtb47	UTSW	9	121,592,327 (GRCm39)	missense	probably benign	0.01
R2202:Zbtb47	UTSW	9	121,591,703 (GRCm39)	missense	possibly damaging	0.53
R2203:Zbtb47	UTSW	9	121,591,703 (GRCm39)	missense	possibly damaging	0.53
R2204:Zbtb47	UTSW	9	121,591,703 (GRCm39)	missense	possibly damaging	0.53
R2205:Zbtb47	UTSW	9	121,591,703 (GRCm39)	missense	possibly damaging	0.53
R2364:Zbtb47	UTSW	9	121,596,660 (GRCm39)	missense	probably damaging	0.98
R3843:Zbtb47	UTSW	9	121,592,499 (GRCm39)	missense	possibly damaging	0.86
R4275:Zbtb47	UTSW	9	121,595,605 (GRCm39)	missense	probably damaging	1.00
R4934:Zbtb47	UTSW	9	121,593,045 (GRCm39)	missense	probably damaging	0.99
R5358:Zbtb47	UTSW	9	121,594,661 (GRCm39)	missense	probably damaging	1.00
R5462:Zbtb47	UTSW	9	121,596,729 (GRCm39)	missense	probably damaging	0.99
R5613:Zbtb47	UTSW	9	121,596,585 (GRCm39)	missense	probably damaging	1.00
R5843:Zbtb47	UTSW	9	121,596,405 (GRCm39)	missense	possibly damaging	0.47
R5863:Zbtb47	UTSW	9	121,596,596 (GRCm39)	missense	probably benign	0.22
R6009:Zbtb47	UTSW	9	121,591,937 (GRCm39)	missense	possibly damaging	0.86
R6063:Zbtb47	UTSW	9	121,592,598 (GRCm39)	missense	probably benign	0.01
R6114:Zbtb47	UTSW	9	121,594,661 (GRCm39)	missense	probably damaging	1.00
R6223:Zbtb47	UTSW	9	121,592,853 (GRCm39)	missense	possibly damaging	0.61
R6414:Zbtb47	UTSW	9	121,592,725 (GRCm39)	missense	probably benign
R7394:Zbtb47	UTSW	9	121,596,411 (GRCm39)	missense	probably damaging	0.98
R7430:Zbtb47	UTSW	9	121,592,732 (GRCm39)	missense	probably benign	0.02
R8215:Zbtb47	UTSW	9	121,596,344 (GRCm39)	missense	probably benign	0.40
R8900:Zbtb47	UTSW	9	121,596,705 (GRCm39)	missense	probably damaging	0.99
R8982:Zbtb47	UTSW	9	121,592,334 (GRCm39)	missense	probably benign	0.26
R9623:Zbtb47	UTSW	9	121,591,990 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACCCTCTAGAAAAGCGTGG -3'
(R):5'- AGGCCTGCAAAGAAACATTTCC -3'

Sequencing Primer
(F):5'- CTCTAGAAAAGCGTGGGGTGC -3'
(R):5'- TGTCCCAGGATTACGGGCATAC -3'

Posted On

2018-09-12