Mutagenetix > Incidental Mutation

Incidental Mutation 'R6223:Zbtb47'

504150

Institutional Source

Beutler Lab

Gene Symbol

Zbtb47

Ensembl Gene

ENSMUSG00000013419

Gene Name

zinc finger and BTB domain containing 47

Synonyms

4732420M22Rik, Zfp651

MMRRC Submission

044354-MU

Accession Numbers

Essential gene?

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

Stock #

R6223 (G1)

Quality Score

220.009

Status

Not validated

Chromosome

Chromosomal Location

121588396-121600808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121592853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 391 (R391Q)

Ref Sequence

ENSEMBL: ENSMUSP00000091286 (fasta)

Gene Model

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

AlphaFold

E9PZ11

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093772
AA Change: R391Q

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091286
Gene: ENSMUSG00000013419
AA Change: R391Q

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

noncoding transcript
Transcript: ENSMUST00000181325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213743

Predicted Effect

unknown
Transcript: ENSMUST00000214732
AA Change: R426Q

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216791

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,269,873 (GRCm39)	R8S	probably benign	Het
Abca8b	A	G	11: 109,868,672 (GRCm39)	V164A	probably benign	Het
Acadm	C	A	3: 153,644,186 (GRCm39)		probably null	Het
Ap3b2	G	A	7: 81,123,210 (GRCm39)	R435*	probably null	Het
Art2b	A	G	7: 101,229,158 (GRCm39)	F247S	possibly damaging	Het
C1rb	T	A	6: 124,551,539 (GRCm39)	D216E	probably benign	Het
Casz1	C	A	4: 149,017,840 (GRCm39)	D90E	probably damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cdc25a	C	A	9: 109,718,842 (GRCm39)	P409T	possibly damaging	Het
Cidea	A	C	18: 67,491,809 (GRCm39)	K23T	possibly damaging	Het
Clspn	T	A	4: 126,479,961 (GRCm39)	D1101E	probably damaging	Het
Col10a1	A	T	10: 34,271,183 (GRCm39)	D385V	probably damaging	Het
Crat	C	T	2: 30,297,042 (GRCm39)	V304I	probably benign	Het
Cyp2d26	A	T	15: 82,675,918 (GRCm39)	W265R	probably benign	Het
Dock8	A	T	19: 25,138,416 (GRCm39)	Y1247F	probably benign	Het
Dync2i1	T	C	12: 116,221,078 (GRCm39)	D11G	possibly damaging	Het
Eed	A	G	7: 89,605,495 (GRCm39)	Y365H	probably damaging	Het
Fabp5	T	A	3: 10,080,170 (GRCm39)	F73L	probably benign	Het
Fbn1	C	T	2: 125,254,591 (GRCm39)	C224Y	possibly damaging	Het
Ggcx	T	C	6: 72,406,588 (GRCm39)	F684L	probably damaging	Het
Glrp1	G	A	1: 88,431,164 (GRCm39)	Q69*	probably null	Het
Gm29797	T	C	2: 181,300,850 (GRCm39)	V115A	possibly damaging	Het
Gtf3c1	C	T	7: 125,275,797 (GRCm39)	R543K	probably benign	Het
Ifih1	T	C	2: 62,428,603 (GRCm39)	I891V	probably benign	Het
Ifnar2	C	T	16: 91,184,876 (GRCm39)	T89M	probably damaging	Het
Kat6a	C	A	8: 23,430,442 (GRCm39)	N1932K	unknown	Het
Mgat5	A	T	1: 127,310,716 (GRCm39)	D210V	possibly damaging	Het
Mmel1	A	G	4: 154,956,159 (GRCm39)		probably null	Het
Myh3	G	T	11: 66,988,843 (GRCm39)	V1499L	probably benign	Het
Ncan	A	C	8: 70,562,604 (GRCm39)	D551E	probably benign	Het
Nol11	G	T	11: 107,062,442 (GRCm39)	T598K	possibly damaging	Het
Olfml3	G	A	3: 103,643,776 (GRCm39)	R202W	probably damaging	Het
Or2w4	G	A	13: 21,795,536 (GRCm39)	T201I	probably benign	Het
Or4e2	A	G	14: 52,688,136 (GRCm39)	R89G	probably benign	Het
Pcdh9	T	C	14: 93,253,169 (GRCm39)	K1131E	probably benign	Het
Pcolce	A	G	5: 137,603,561 (GRCm39)	M424T	probably damaging	Het
Pi16	C	A	17: 29,546,413 (GRCm39)	S397*	probably null	Het
Pi4ka	A	T	16: 17,175,435 (GRCm39)	Y464*	probably null	Het
Pik3c2b	T	A	1: 132,998,095 (GRCm39)	L324M	probably damaging	Het
Prdm2	T	C	4: 142,868,777 (GRCm39)	N179S	probably benign	Het
Prss56	C	T	1: 87,113,134 (GRCm39)	P183S	probably benign	Het
Prx	T	G	7: 27,216,261 (GRCm39)	M393R	probably damaging	Het
Qpctl	T	C	7: 18,877,134 (GRCm39)	D328G	probably damaging	Het
Qser1	A	G	2: 104,617,993 (GRCm39)	S940P	probably benign	Het
Rchy1	G	A	5: 92,105,826 (GRCm39)	R41W	probably damaging	Het
Scp2d1	T	C	2: 144,665,868 (GRCm39)	I69T	possibly damaging	Het
Sirpb1a	A	G	3: 15,444,086 (GRCm39)	V388A	probably benign	Het
Ssu2	G	T	6: 112,353,409 (GRCm39)	C238*	probably null	Het
Stub1	C	T	17: 26,051,787 (GRCm39)	G14D	probably damaging	Het
Tab1	T	A	15: 80,032,464 (GRCm39)	C24S	probably damaging	Het
Tdrd1	T	C	19: 56,854,282 (GRCm39)	V1076A	probably damaging	Het
Tex10	T	C	4: 48,468,525 (GRCm39)	R134G	probably damaging	Het
Tg	T	A	15: 66,579,771 (GRCm39)	N1525K	probably benign	Het
Tll2	G	A	19: 41,124,391 (GRCm39)	T208I	possibly damaging	Het
Tmem232	T	C	17: 65,807,191 (GRCm39)	M1V	probably null	Het
Ttc7b	A	G	12: 100,353,368 (GRCm39)		probably null	Het
Ubb	A	G	11: 62,443,351 (GRCm39)	E127G	possibly damaging	Het
Ulk2	A	T	11: 61,678,330 (GRCm39)	Y796*	probably null	Het
Vdac2	G	A	14: 21,895,246 (GRCm39)	G265R	possibly damaging	Het
Vmn2r45	A	T	7: 8,486,301 (GRCm39)	V329E	probably benign	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
R6414:Zbtb47	UTSW	9	121,592,725 (GRCm39)	missense	probably benign
R6811:Zbtb47	UTSW	9	121,595,595 (GRCm39)	missense	probably damaging	1.00
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'- CAGGAGCAGTCACAAATCATTG -3'
(R):5'- GGTACCAGCGGTTGTTGAAG -3'

Sequencing Primer
(F):5'- AATCCAGCCACTGTGGTG -3'
(R):5'- TTGAAGACCCGAGGGCACTTC -3'

Posted On

2018-02-28