Mutagenetix > Incidental Mutation

Incidental Mutation 'R4595:Zbtb16'

344327

Institutional Source

Beutler Lab

Gene Symbol

Zbtb16

Ensembl Gene

ENSMUSG00000066687

Gene Name

zinc finger and BTB domain containing 16

Synonyms

Green's luxoid, PLZF, Zfp145

MMRRC Submission

041811-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.811) question?

Stock #

R4595 (G1)

Quality Score

124

Status

Validated

Chromosome

Chromosomal Location

48565597-48747522 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 48743380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 311 (E311K)

Ref Sequence

ENSEMBL: ENSMUSP00000150887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093852] [ENSMUST00000216150]

AlphaFold

Q3UQ17

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093852
AA Change: E311K

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091374
Gene: ENSMUSG00000066687
AA Change: E311K

Domain	Start	End	E-Value	Type
BTB	34	126	1.41e-24	SMART
ZnF_C2H2	404	426	3.72e0	SMART
ZnF_C2H2	432	454	8.22e-2	SMART
ZnF_C2H2	461	483	2.24e-3	SMART
ZnF_C2H2	490	512	1.56e-2	SMART
ZnF_C2H2	518	540	1.63e-5	SMART
ZnF_C2H2	546	568	1.95e-3	SMART
ZnF_C2H2	574	596	5.9e-3	SMART
ZnF_C2H2	602	624	2.36e-2	SMART
ZnF_C2H2	630	652	2.24e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216150
AA Change: E311K

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

Meta Mutation Damage Score

0.2203

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (62/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit abnormal anterior-posterior patterning, with skeletal abnormalities of the limb, especially the hindlimb, and homeotic transformations of anterior skeletal elements into posterior structures. Males develop infertility due to loss of germline cells with age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
4921536K21Rik	A	G	11: 3,840,052 (GRCm39)	I115T	probably benign	Het
Acads	A	T	5: 115,251,123 (GRCm39)	N120K	probably damaging	Het
Aco1	T	A	4: 40,167,139 (GRCm39)	C118S	probably benign	Het
Alpk2	T	C	18: 65,422,819 (GRCm39)	T1493A	probably damaging	Het
AU018091	A	G	7: 3,208,268 (GRCm39)	Y480H	possibly damaging	Het
Brd4	A	T	17: 32,417,896 (GRCm39)	I86N	probably damaging	Het
Ccdc180	A	G	4: 45,945,023 (GRCm39)	E1477G	probably damaging	Het
Ccne2	A	G	4: 11,202,986 (GRCm39)	N368S	probably benign	Het
Cenpp	A	T	13: 49,794,710 (GRCm39)	F152L	probably benign	Het
Cfap46	T	A	7: 139,232,320 (GRCm39)	D881V	possibly damaging	Het
Chmp7	A	G	14: 69,958,678 (GRCm39)	V212A	probably damaging	Het
Col9a2	A	T	4: 120,902,352 (GRCm39)	K196N	probably benign	Het
Copg2	T	C	6: 30,749,449 (GRCm39)	D814G	probably damaging	Het
Dcaf13	G	A	15: 38,982,288 (GRCm39)	G85R	probably damaging	Het
Dnah9	A	G	11: 66,058,978 (GRCm39)	S106P	probably benign	Het
Dpp8	A	G	9: 64,983,085 (GRCm39)	D739G	probably damaging	Het
Drd2	T	A	9: 49,316,089 (GRCm39)	M283K	probably benign	Het
Espl1	A	G	15: 102,207,159 (GRCm39)	T208A	probably benign	Het
Glul	G	A	1: 153,778,796 (GRCm39)	G35D	possibly damaging	Het
Gm14412	T	C	2: 177,007,005 (GRCm39)	K297E	unknown	Het
Gm21976	A	T	13: 98,442,318 (GRCm39)	R120W	probably damaging	Het
Hipk3	T	A	2: 104,271,622 (GRCm39)	T437S	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lipn	T	G	19: 34,058,750 (GRCm39)	Y321D	probably damaging	Het
Lrwd1	A	G	5: 136,152,810 (GRCm39)	V484A	probably benign	Het
Madd	T	C	2: 90,998,009 (GRCm39)	D673G	possibly damaging	Het
Marveld1	T	A	19: 42,136,203 (GRCm39)	L39Q	probably damaging	Het
Mfsd2b	T	C	12: 4,915,807 (GRCm39)	T299A	possibly damaging	Het
Micu3	T	C	8: 40,812,438 (GRCm39)		probably benign	Het
Mmp7	T	C	9: 7,697,667 (GRCm39)	V234A	probably damaging	Het
Nhsl1	T	A	10: 18,403,357 (GRCm39)	D1329E	probably benign	Het
Or4a15	C	T	2: 89,193,669 (GRCm39)	V35M	probably damaging	Het
Or4f14b	T	C	2: 111,774,997 (GRCm39)	D268G	possibly damaging	Het
Or52a33	A	G	7: 103,289,308 (GRCm39)	F13S	probably damaging	Het
Pcdhb21	T	A	18: 37,647,568 (GRCm39)	D232E	probably damaging	Het
Pebp1	G	T	5: 117,421,475 (GRCm39)	D156E	probably benign	Het
Pik3cb	A	G	9: 98,937,459 (GRCm39)	Y745H	possibly damaging	Het
Pld2	T	C	11: 70,432,846 (GRCm39)	L170P	probably damaging	Het
Ptch1	T	C	13: 63,691,422 (GRCm39)	D277G	possibly damaging	Het
Rab11fip1	A	T	8: 27,644,603 (GRCm39)	M394K	probably damaging	Het
Rhoq	T	C	17: 87,271,754 (GRCm39)	Y57H	probably benign	Het
Setbp1	T	C	18: 78,900,731 (GRCm39)	I979V	probably benign	Het
Slc6a4	A	G	11: 76,910,689 (GRCm39)	I447V	probably benign	Het
Sos2	T	C	12: 69,663,663 (GRCm39)	K607R	probably damaging	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Syne2	A	T	12: 76,013,845 (GRCm39)	Q3012L	possibly damaging	Het
Taf1b	T	A	12: 24,550,441 (GRCm39)	F9I	possibly damaging	Het
Tex35	T	A	1: 156,926,909 (GRCm39)	Y195F	probably benign	Het
Tnc	T	C	4: 63,913,982 (GRCm39)	T1277A	probably damaging	Het
Tnfsf15	G	T	4: 63,648,180 (GRCm39)	Y153*	probably null	Het
Trim5	C	A	7: 103,914,639 (GRCm39)	V477F	probably damaging	Het
Trp73	A	G	4: 154,148,874 (GRCm39)	I245T	probably damaging	Het
Zmynd19	A	G	2: 24,849,000 (GRCm39)	D165G	probably damaging	Het

Other mutations in Zbtb16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01977:Zbtb16	APN	9	48,568,483 (GRCm39)	missense	probably damaging	1.00
R0324:Zbtb16	UTSW	9	48,576,575 (GRCm39)	missense	possibly damaging	0.82
R0364:Zbtb16	UTSW	9	48,654,876 (GRCm39)	splice site	probably benign
R1538:Zbtb16	UTSW	9	48,743,583 (GRCm39)	missense	probably benign
R1575:Zbtb16	UTSW	9	48,743,572 (GRCm39)	missense	probably damaging	0.96
R1937:Zbtb16	UTSW	9	48,571,078 (GRCm39)	missense	probably benign
R2656:Zbtb16	UTSW	9	48,743,988 (GRCm39)	missense	probably damaging	1.00
R4176:Zbtb16	UTSW	9	48,571,101 (GRCm39)	missense	probably damaging	1.00
R4582:Zbtb16	UTSW	9	48,743,382 (GRCm39)	missense	probably benign
R6466:Zbtb16	UTSW	9	48,576,619 (GRCm39)	missense	possibly damaging	0.95
R6966:Zbtb16	UTSW	9	48,568,654 (GRCm39)	missense	probably damaging	1.00
R7596:Zbtb16	UTSW	9	48,743,704 (GRCm39)	missense	possibly damaging	0.93
R7751:Zbtb16	UTSW	9	48,654,769 (GRCm39)	missense	probably damaging	1.00
R7904:Zbtb16	UTSW	9	48,744,272 (GRCm39)	missense	probably damaging	1.00
R8922:Zbtb16	UTSW	9	48,743,857 (GRCm39)	missense	probably benign
Z1176:Zbtb16	UTSW	9	48,568,588 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACAGCTCCCTCTGGATGAAG -3'
(R):5'- ATGCAGGTAGATGAAGCCCC -3'

Sequencing Primer
(F):5'- TCTGGATGAAGCCCTGAGG -3'
(R):5'- AGCTGAGTCTAGCATCTC -3'

Posted On

2015-09-25