Mutagenetix > Incidental Mutation

Incidental Mutation 'R8982:Zbtb47'

683783

Institutional Source

Beutler Lab

Gene Symbol

Zbtb47

Ensembl Gene

ENSMUSG00000013419

Gene Name

zinc finger and BTB domain containing 47

Synonyms

4732420M22Rik, Zfp651

MMRRC Submission

068815-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R8982 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121588396-121600808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121592334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 218 (E218G)

Ref Sequence

ENSEMBL: ENSMUSP00000091286 (fasta)

Gene Model

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

AlphaFold

E9PZ11

Predicted Effect

probably benign
Transcript: ENSMUST00000093772
AA Change: E218G

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091286
Gene: ENSMUSG00000013419
AA Change: E218G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	G	1: 78,677,485 (GRCm39)	N493S	probably benign	Het
Actg2	T	C	6: 83,497,697 (GRCm39)	D185G	probably benign	Het
Alpk3	A	G	7: 80,748,750 (GRCm39)	N1439S	probably damaging	Het
Arid1b	T	A	17: 5,293,316 (GRCm39)	S745T	probably damaging	Het
Atxn2l	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	7: 126,093,420 (GRCm39)		probably benign	Het
C4b	A	G	17: 34,953,338 (GRCm39)		probably null	Het
Cenpc1	A	G	5: 86,195,533 (GRCm39)	S79P	probably damaging	Het
Cep295nl	A	T	11: 118,224,671 (GRCm39)	W58R	probably damaging	Het
Ces2f	T	A	8: 105,679,667 (GRCm39)	C387S	probably benign	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Ckap5	T	C	2: 91,437,923 (GRCm39)	V1668A	possibly damaging	Het
Clock	A	G	5: 76,364,559 (GRCm39)	V852A	unknown	Het
Col22a1	A	G	15: 71,845,487 (GRCm39)		probably null	Het
Copb2	T	C	9: 98,456,164 (GRCm39)	S233P	probably damaging	Het
Dnah3	T	C	7: 119,536,294 (GRCm39)	Y684C	probably damaging	Het
Dnah7a	T	C	1: 53,570,301 (GRCm39)	E1835G	probably benign	Het
F830045P16Rik	T	A	2: 129,314,812 (GRCm39)	Q155L	probably damaging	Het
Fhad1	T	C	4: 141,729,895 (GRCm39)	D36G	probably damaging	Het
Hectd4	T	C	5: 121,466,305 (GRCm39)	V2412A	probably benign	Het
Hoxa13	T	A	6: 52,235,916 (GRCm39)	K210*	probably null	Het
Hoxc5	T	C	15: 102,923,740 (GRCm39)	Y179H	probably damaging	Het
Hrob	G	A	11: 102,146,110 (GRCm39)	A129T	probably benign	Het
Htr1d	A	T	4: 136,170,866 (GRCm39)	Q365L	possibly damaging	Het
Krt72	C	T	15: 101,690,059 (GRCm39)	V253M	possibly damaging	Het
Mecom	G	A	3: 30,017,255 (GRCm39)	T470I	probably damaging	Het
Nefh	G	A	11: 4,897,549 (GRCm39)	A129V	probably damaging	Het
Nlrp2	T	A	7: 5,327,978 (GRCm39)	I692F	probably damaging	Het
Nr6a1	T	A	2: 38,762,613 (GRCm39)	I61L	probably benign	Het
Or10aa1	T	G	1: 173,870,188 (GRCm39)	V224G	probably damaging	Het
Or10j2	G	A	1: 173,098,306 (GRCm39)	C188Y	probably damaging	Het
Or5d18	A	T	2: 87,864,613 (GRCm39)	I290K	probably damaging	Het
Pck1	T	C	2: 172,999,112 (GRCm39)	V426A	probably damaging	Het
Pkhd1l1	T	A	15: 44,387,069 (GRCm39)	L1314*	probably null	Het
Pogz	G	A	3: 94,786,879 (GRCm39)	V1156M	probably damaging	Het
Pramel23	T	G	4: 143,424,886 (GRCm39)	I186L	probably benign	Het
Prrc2b	T	A	2: 32,102,134 (GRCm39)	C736S	probably damaging	Het
Psg18	T	A	7: 18,083,300 (GRCm39)	H285L	probably benign	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Ptprk	A	T	10: 28,436,138 (GRCm39)	D833V	probably damaging	Het
Rfx6	G	A	10: 51,599,915 (GRCm39)	V554M	probably benign	Het
Rimbp3	A	G	16: 17,027,511 (GRCm39)	T312A	probably benign	Het
Slfn5	G	A	11: 82,850,966 (GRCm39)	W421*	probably null	Het
Srcin1	A	G	11: 97,426,624 (GRCm39)	I291T	probably damaging	Het
Sult3a2	T	C	10: 33,658,069 (GRCm39)	N15D	probably damaging	Het
Tmem179	A	T	12: 112,468,301 (GRCm39)	L193Q	probably damaging	Het
Tmem200b	T	A	4: 131,649,668 (GRCm39)	L196Q	probably damaging	Het
Trim71	T	C	9: 114,342,804 (GRCm39)	T493A	possibly damaging	Het
Trp53bp2	T	A	1: 182,263,001 (GRCm39)		probably null	Het
Zbtb7c	G	A	18: 76,279,344 (GRCm39)	G601S	probably damaging	Het
Zdhhc3	A	G	9: 122,929,578 (GRCm39)	L19P	probably benign	Het
Zfp385b	G	T	2: 77,242,300 (GRCm39)	T473K	probably damaging	Het
Zfp804a	A	G	2: 82,066,172 (GRCm39)	K48E	probably 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
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
R9623:Zbtb47	UTSW	9	121,591,990 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTCCAAGCTGCTCGTGAACG -3'
(R):5'- ACCACAGTGGCTGGATTG -3'

Sequencing Primer
(F):5'- TGCTGCAGATGGCTGAC -3'
(R):5'- AGAGCCTGGCTTGCCCTC -3'

Posted On

2021-10-11