Mutagenetix > Incidental Mutation

Incidental Mutation 'R8922:Zbtb16'

679340

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

068767-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.811) question?

Stock #

R8922 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48565597-48747522 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48743857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 152 (Y152H)

Ref Sequence

ENSEMBL: ENSMUSP00000091374 (fasta)

Gene Model

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

AlphaFold

Q3UQ17

Predicted Effect

probably benign
Transcript: ENSMUST00000093852
AA Change: Y152H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091374
Gene: ENSMUSG00000066687
AA Change: Y152H

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

probably benign
Transcript: ENSMUST00000216150
AA Change: Y152H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (78/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	A	G	8: 88,295,177 (GRCm39)	D105G	possibly damaging	Het
Abhd14b	T	C	9: 106,328,835 (GRCm39)		probably null	Het
Acot1	C	T	12: 84,064,085 (GRCm39)	Q398*	probably null	Het
Adam26b	A	T	8: 43,973,216 (GRCm39)	D595E	probably damaging	Het
Aldh1l1	T	A	6: 90,536,256 (GRCm39)	F54I	probably damaging	Het
Arhgap33	C	T	7: 30,223,417 (GRCm39)	E871K	probably damaging	Het
Aspg	A	T	12: 112,089,830 (GRCm39)	D456V	possibly damaging	Het
Cacna1b	A	C	2: 24,622,340 (GRCm39)	S215A	possibly damaging	Het
Car3	A	T	3: 14,931,952 (GRCm39)	T108S		Het
Ccdc91	C	T	6: 147,412,358 (GRCm39)	Q23*	probably null	Het
Cd300lg	A	T	11: 101,945,028 (GRCm39)	I413F	probably damaging	Het
Ces2h	T	A	8: 105,744,756 (GRCm39)	M378K	probably benign	Het
Cfap44	C	T	16: 44,272,030 (GRCm39)	T1261I	probably benign	Het
Cir1	G	A	2: 73,118,053 (GRCm39)	S164L	possibly damaging	Het
Clasp2	A	T	9: 113,725,728 (GRCm39)	K790*	probably null	Het
Cpne8	A	T	15: 90,456,213 (GRCm39)	D183E	probably damaging	Het
Dhrs13	A	G	11: 77,923,425 (GRCm39)	I48V	possibly damaging	Het
Dpp8	G	T	9: 64,981,793 (GRCm39)	V692L	probably benign	Het
Exoc2	A	T	13: 31,055,838 (GRCm39)	I660N	probably benign	Het
Exosc5	T	C	7: 25,363,673 (GRCm39)	V88A	probably benign	Het
Extl3	G	A	14: 65,292,255 (GRCm39)	T856I	probably damaging	Het
Flnc	T	C	6: 29,456,835 (GRCm39)	V2277A	probably damaging	Het
Frmd8	A	G	19: 5,923,295 (GRCm39)	I52T	probably benign	Het
Gm8947	C	T	1: 151,068,655 (GRCm39)	R163C	probably benign	Het
Golga7	A	T	8: 23,740,288 (GRCm39)	C81S	probably damaging	Het
Grik1	A	C	16: 87,693,167 (GRCm39)	S879A	unknown	Het
Helz	A	G	11: 107,539,985 (GRCm39)	T1002A	possibly damaging	Het
Hes1	T	A	16: 29,884,725 (GRCm39)	L62*	probably null	Het
Hmgn2-ps	A	G	8: 73,058,953 (GRCm39)	S25P	probably benign	Het
Hnrnpdl	A	T	5: 100,184,419 (GRCm39)	Y371*	probably null	Het
Ifna11	T	C	4: 88,738,431 (GRCm39)	V79A	probably benign	Het
Itga4	A	G	2: 79,085,938 (GRCm39)		probably benign	Het
Kap	T	C	6: 133,827,054 (GRCm39)	I110V	probably benign	Het
Lmbrd2	A	G	15: 9,172,231 (GRCm39)	K342E	probably damaging	Het
Lrba	A	G	3: 86,263,973 (GRCm39)	D1549G	probably damaging	Het
Luzp1	C	T	4: 136,270,233 (GRCm39)	H819Y	probably damaging	Het
Mmp21	T	A	7: 133,276,000 (GRCm39)		probably benign	Het
Mto1	T	C	9: 78,377,928 (GRCm39)	V590A	probably benign	Het
Myom3	T	C	4: 135,492,222 (GRCm39)	L122P	probably damaging	Het
Nat10	T	C	2: 103,582,938 (GRCm39)	Y161C	probably damaging	Het
Ncor2	A	G	5: 125,163,939 (GRCm39)	V197A	unknown	Het
Opn4	A	C	14: 34,314,955 (GRCm39)	S439R	probably benign	Het
Or12j3	T	A	7: 139,953,389 (GRCm39)	I45F	possibly damaging	Het
Or4c3d	C	A	2: 89,882,695 (GRCm39)		probably benign	Het
Or56a41	C	A	7: 104,740,469 (GRCm39)	V126L	probably benign	Het
Or5b12b	A	G	19: 12,861,458 (GRCm39)	Y71C	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,957 (GRCm39)	D231E	unknown	Het
Pik3c2a	G	T	7: 116,017,659 (GRCm39)	Q33K	probably damaging	Het
Pm20d1	G	T	1: 131,728,853 (GRCm39)	S93I	possibly damaging	Het
Pou3f1	C	T	4: 124,552,176 (GRCm39)	A226V	possibly damaging	Het
Ppl	T	C	16: 4,923,815 (GRCm39)	E191G	probably benign	Het
Prkag1	T	C	15: 98,712,147 (GRCm39)	T208A	probably benign	Het
Rb1cc1	T	C	1: 6,319,194 (GRCm39)	I871T	probably benign	Het
Rhd	T	C	4: 134,612,627 (GRCm39)	S293P	probably damaging	Het
Rprd2	G	T	3: 95,687,896 (GRCm39)	T252K	probably damaging	Het
Scn5a	C	A	9: 119,363,766 (GRCm39)	R458L	probably benign	Het
Scrib	C	T	15: 75,933,587 (GRCm39)		probably null	Het
Sec24d	G	A	3: 123,144,488 (GRCm39)	G655E	probably damaging	Het
Serpine3	A	G	14: 62,910,503 (GRCm39)	R199G	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc44a1	A	G	4: 53,544,545 (GRCm39)	K419E	probably damaging	Het
Speer4a3	C	T	5: 26,156,594 (GRCm39)	M128I	possibly damaging	Het
Styxl1	T	C	5: 135,776,634 (GRCm39)	E318G	probably benign	Het
Tcstv2a	A	G	13: 120,725,666 (GRCm39)	E110G	probably benign	Het
Tesmin	A	G	19: 3,454,163 (GRCm39)	K346E	probably damaging	Het
Thpo	A	T	16: 20,547,680 (GRCm39)	L6Q	unknown	Het
Tlr2	T	A	3: 83,745,075 (GRCm39)	E336V	probably benign	Het
Tmem167b	A	G	3: 108,467,541 (GRCm39)	L35P	probably benign	Het
Topaz1	A	T	9: 122,625,101 (GRCm39)	E1395D	possibly damaging	Het
Trim29	G	T	9: 43,233,636 (GRCm39)	R434L	possibly damaging	Het
Trim68	T	C	7: 102,327,550 (GRCm39)	I468V	probably benign	Het
Ttn	C	A	2: 76,542,628 (GRCm39)	V33453F	probably benign	Het
Ubac1	A	T	2: 25,896,621 (GRCm39)	V298D	probably damaging	Het
Vmn1r185	C	A	7: 26,310,825 (GRCm39)	V227F	probably damaging	Het
Vmn1r21	T	A	6: 57,820,829 (GRCm39)	H205L	probably damaging	Het
Zbtb20	A	T	16: 43,397,968 (GRCm39)	N19I	probably damaging	Het
Zfp438	A	G	18: 5,213,422 (GRCm39)	M512T	possibly 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
R4595:Zbtb16	UTSW	9	48,743,380 (GRCm39)	missense	possibly damaging	0.79
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
Z1176:Zbtb16	UTSW	9	48,568,588 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAGGAGTGACTGTCCTATAC -3'
(R):5'- AGATCCTGGAGTACGCCTACAC -3'

Sequencing Primer
(F):5'- GGAGTGACTGTCCTATACTCATCAAG -3'
(R):5'- TACACGGCCACACTGCAAG -3'

Posted On

2021-08-02