Mutagenetix > Incidental Mutation

Incidental Mutation 'R8930:Zbtb7a'

680262

Institutional Source

Beutler Lab

Gene Symbol

Zbtb7a

Ensembl Gene

ENSMUSG00000035011

Gene Name

zinc finger and BTB domain containing 7a

Synonyms

Zbtb7, 9130006G12Rik, Lrf, 9030619K07Rik, FBI-1, Leukemia/lymphoma Related Factor, Pokemon

MMRRC Submission

068774-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8930 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80971113-80988056 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80980368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 187 (D187E)

Ref Sequence

ENSEMBL: ENSMUSP00000113787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048128] [ENSMUST00000117956] [ENSMUST00000119606] [ENSMUST00000121840] [ENSMUST00000125261] [ENSMUST00000146895]

AlphaFold

O88939

Predicted Effect

probably benign
Transcript: ENSMUST00000048128
AA Change: D187E

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000047333
Gene: ENSMUSG00000035011
AA Change: D187E

Domain	Start	End	E-Value	Type
BTB	34	131	5.01e-30	SMART
low complexity region	195	205	N/A	INTRINSIC
low complexity region	215	232	N/A	INTRINSIC
low complexity region	245	261	N/A	INTRINSIC
low complexity region	267	289	N/A	INTRINSIC
low complexity region	297	314	N/A	INTRINSIC
ZnF_C2H2	376	398	7.55e-1	SMART
ZnF_C2H2	404	426	2.79e-4	SMART
ZnF_C2H2	432	454	1.58e-3	SMART
ZnF_C2H2	460	480	5.4e1	SMART
low complexity region	486	519	N/A	INTRINSIC
low complexity region	528	535	N/A	INTRINSIC
low complexity region	546	563	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117956
AA Change: D187E

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113428
Gene: ENSMUSG00000035011
AA Change: D187E

Domain	Start	End	E-Value	Type
BTB	34	131	5.01e-30	SMART
low complexity region	195	205	N/A	INTRINSIC
low complexity region	215	232	N/A	INTRINSIC
low complexity region	245	261	N/A	INTRINSIC
low complexity region	267	289	N/A	INTRINSIC
low complexity region	297	314	N/A	INTRINSIC
ZnF_C2H2	376	398	7.55e-1	SMART
ZnF_C2H2	404	426	2.79e-4	SMART
ZnF_C2H2	432	454	1.58e-3	SMART
ZnF_C2H2	460	480	5.4e1	SMART
low complexity region	486	519	N/A	INTRINSIC
low complexity region	528	535	N/A	INTRINSIC
low complexity region	546	563	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119606
AA Change: D187E

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113612
Gene: ENSMUSG00000035011
AA Change: D187E

Domain	Start	End	E-Value	Type
BTB	34	131	5.01e-30	SMART
low complexity region	195	205	N/A	INTRINSIC
low complexity region	215	232	N/A	INTRINSIC
low complexity region	245	261	N/A	INTRINSIC
low complexity region	267	289	N/A	INTRINSIC
low complexity region	297	314	N/A	INTRINSIC
ZnF_C2H2	376	398	7.55e-1	SMART
ZnF_C2H2	404	426	2.79e-4	SMART
ZnF_C2H2	432	454	1.58e-3	SMART
ZnF_C2H2	460	480	5.4e1	SMART
low complexity region	486	519	N/A	INTRINSIC
low complexity region	528	535	N/A	INTRINSIC
low complexity region	546	563	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121840
AA Change: D187E

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113787
Gene: ENSMUSG00000035011
AA Change: D187E

Domain	Start	End	E-Value	Type
BTB	34	131	5.01e-30	SMART
low complexity region	195	205	N/A	INTRINSIC
low complexity region	215	232	N/A	INTRINSIC
low complexity region	245	261	N/A	INTRINSIC
low complexity region	267	289	N/A	INTRINSIC
low complexity region	297	314	N/A	INTRINSIC
ZnF_C2H2	376	398	7.55e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125261

SMART Domains

Protein: ENSMUSP00000114470
Gene: ENSMUSG00000035011

Domain	Start	End	E-Value	Type
BTB	34	131	5.01e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146895

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (64/64)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele die around E16.5 due to anemia and exhibit a cell autonomous defect in early B cell development. [provided by MGI curators]

Allele List at MGI

All alleles(58) : Targeted, knock-out(1) Targeted, other(3) Gene trapped(54)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,629,693 (GRCm39)		probably null	Het
Abl2	A	G	1: 156,461,402 (GRCm39)	T435A	probably damaging	Het
Adamtsl3	C	T	7: 82,261,069 (GRCm39)	P29S		Het
Ankrd11	C	T	8: 123,622,718 (GRCm39)	R378K	probably damaging	Het
Arap1	G	A	7: 101,057,324 (GRCm39)	R1355Q	possibly damaging	Het
Ass1	T	A	2: 31,382,387 (GRCm39)	M186K	probably damaging	Het
Bckdk	A	G	7: 127,507,182 (GRCm39)	D312G	probably benign	Het
Btg3	T	A	16: 78,170,298 (GRCm39)	N3I	probably benign	Het
Cd163	T	C	6: 124,294,882 (GRCm39)	F649L	probably damaging	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 107,392,870 (GRCm39)		probably benign	Het
Cnksr3	A	T	10: 7,110,780 (GRCm39)	V27E	probably damaging	Het
Col12a1	A	T	9: 79,580,665 (GRCm39)	S1512T	probably benign	Het
Cstf1	A	G	2: 172,217,623 (GRCm39)	T79A	probably benign	Het
Defa24	T	C	8: 22,225,373 (GRCm39)	Y88H	probably benign	Het
Dgkz	C	T	2: 91,769,915 (GRCm39)	R389Q	probably damaging	Het
Dsg3	T	A	18: 20,672,718 (GRCm39)	D796E	probably damaging	Het
Dyrk3	G	T	1: 131,057,293 (GRCm39)	D293E	probably damaging	Het
Epb42	T	C	2: 120,854,767 (GRCm39)	D606G	probably benign	Het
Erich5	G	A	15: 34,453,844 (GRCm39)	G18S	probably benign	Het
Fam8a1	C	T	13: 46,827,868 (GRCm39)	T352M	probably benign	Het
Fastkd3	T	A	13: 68,731,835 (GRCm39)	L52Q	probably benign	Het
Fat3	G	A	9: 15,910,819 (GRCm39)	H1728Y	probably benign	Het
Fgl1	A	G	8: 41,662,868 (GRCm39)	V39A	probably benign	Het
Gm7298	T	C	6: 121,742,030 (GRCm39)	V484A	probably benign	Het
Gpr75	A	G	11: 30,842,571 (GRCm39)	Q492R	possibly damaging	Het
Hoxc8	A	G	15: 102,899,318 (GRCm39)	H36R	possibly damaging	Het
Insyn2a	A	G	7: 134,500,881 (GRCm39)	I408T	probably damaging	Het
Insyn2b	T	C	11: 34,352,707 (GRCm39)	S250P	probably benign	Het
Isy1	T	C	6: 87,798,513 (GRCm39)	I214V	probably damaging	Het
Kdm5b	C	T	1: 134,544,010 (GRCm39)	P853L	probably damaging	Het
Man2b1	A	G	8: 85,822,022 (GRCm39)	T746A	probably damaging	Het
Mast3	A	T	8: 71,234,377 (GRCm39)		probably benign	Het
Mki67	A	G	7: 135,300,628 (GRCm39)	S1469P	possibly damaging	Het
Mrps30	C	T	13: 118,523,695 (GRCm39)	A26T	probably benign	Het
Mup10	T	A	4: 60,536,708 (GRCm39)	T92S	possibly damaging	Het
Otud7a	A	G	7: 63,407,239 (GRCm39)	D514G	possibly damaging	Het
Pacs1	T	A	19: 5,185,030 (GRCm39)	S932C	probably damaging	Het
Pbx2	C	T	17: 34,813,563 (GRCm39)	R188C	probably damaging	Het
Pclo	C	T	5: 14,762,989 (GRCm39)	P536S	possibly damaging	Het
Pdxdc1	A	T	16: 13,672,269 (GRCm39)	I377N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,789,041 (GRCm39)	K758E	possibly damaging	Het
Pramel34	T	G	5: 93,785,944 (GRCm39)	D112A	probably benign	Het
Ptprm	C	T	17: 67,263,846 (GRCm39)	R467H	probably benign	Het
Scnn1b	C	T	7: 121,502,067 (GRCm39)	R242C	probably damaging	Het
Seh1l	T	C	18: 67,908,134 (GRCm39)	S19P	possibly damaging	Het
Slc28a1	T	A	7: 80,817,715 (GRCm39)	V528D	probably benign	Het
Slc6a17	G	T	3: 107,379,507 (GRCm39)	Q554K	probably benign	Het
Spag16	G	A	1: 70,338,928 (GRCm39)		probably null	Het
Spata31d1e	C	T	13: 59,890,015 (GRCm39)	E184K	possibly damaging	Het
Srfbp1	T	A	18: 52,623,117 (GRCm39)	N377K	possibly damaging	Het
Stap2	A	G	17: 56,304,895 (GRCm39)	S296P	probably benign	Het
Tnr	A	T	1: 159,740,359 (GRCm39)	I1178F	probably damaging	Het
Tomt	C	T	7: 101,550,350 (GRCm39)	A139T	probably damaging	Het
Trak2	T	C	1: 58,974,967 (GRCm39)	Q75R	probably benign	Het
Tulp1	T	C	17: 28,583,468 (GRCm39)	K58E	probably benign	Het
Utp6	A	G	11: 79,834,055 (GRCm39)		probably null	Het
Vmn1r21	T	C	6: 57,820,998 (GRCm39)	T149A	probably benign	Het
Vmn1r238	C	T	18: 3,123,127 (GRCm39)	V96M	probably benign	Het
Vmn1r9	T	A	6: 57,048,666 (GRCm39)	I247N	probably damaging	Het
Vps33b	T	C	7: 79,932,241 (GRCm39)	C138R	possibly damaging	Het
Wnk1	A	T	6: 119,940,226 (GRCm39)	V837E	probably damaging	Het
Xirp2	C	T	2: 67,312,707 (GRCm39)	H59Y	possibly damaging	Het
Zbtb38	G	T	9: 96,568,434 (GRCm39)	D883E	probably benign	Het
Zfp511	T	C	7: 139,617,442 (GRCm39)	V148A	probably damaging	Het
Zfp52	A	G	17: 21,780,692 (GRCm39)	D180G	possibly damaging	Het

Other mutations in Zbtb7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02937:Zbtb7a	APN	10	80,980,132 (GRCm39)	missense	probably benign	0.30
Bushel	UTSW	10	80,984,163 (GRCm39)	missense	probably benign	0.01
dram	UTSW	10	80,980,100 (GRCm39)	missense	probably damaging	1.00
Gallon	UTSW	10	80,980,274 (GRCm39)	missense	probably damaging	1.00
peck	UTSW	10	80,979,820 (GRCm39)	missense	probably damaging	1.00
D6062:Zbtb7a	UTSW	10	80,980,192 (GRCm39)	missense	probably damaging	0.99
R0529:Zbtb7a	UTSW	10	80,979,820 (GRCm39)	missense	probably damaging	1.00
R0562:Zbtb7a	UTSW	10	80,984,163 (GRCm39)	missense	probably benign	0.01
R2045:Zbtb7a	UTSW	10	80,980,244 (GRCm39)	missense	probably benign	0.03
R2275:Zbtb7a	UTSW	10	80,980,831 (GRCm39)	missense	possibly damaging	0.95
R3755:Zbtb7a	UTSW	10	80,980,100 (GRCm39)	missense	probably damaging	1.00
R3883:Zbtb7a	UTSW	10	80,983,859 (GRCm39)	missense	probably damaging	1.00
R4723:Zbtb7a	UTSW	10	80,980,274 (GRCm39)	missense	probably damaging	1.00
R5503:Zbtb7a	UTSW	10	80,980,631 (GRCm39)	missense	probably damaging	0.96
R5650:Zbtb7a	UTSW	10	80,980,883 (GRCm39)	missense	probably damaging	1.00
R6872:Zbtb7a	UTSW	10	80,983,905 (GRCm39)	missense	possibly damaging	0.95
R7196:Zbtb7a	UTSW	10	80,980,434 (GRCm39)	missense	probably damaging	0.99
R7558:Zbtb7a	UTSW	10	80,984,269 (GRCm39)	makesense	probably null
R7602:Zbtb7a	UTSW	10	80,980,010 (GRCm39)	missense	probably damaging	0.99
R8220:Zbtb7a	UTSW	10	80,980,838 (GRCm39)	missense	probably damaging	0.99
R8317:Zbtb7a	UTSW	10	80,980,784 (GRCm39)	missense	probably benign	0.18
R8552:Zbtb7a	UTSW	10	80,980,141 (GRCm39)	missense	probably damaging	1.00
R8932:Zbtb7a	UTSW	10	80,980,368 (GRCm39)	missense	probably benign	0.04
R9782:Zbtb7a	UTSW	10	80,979,910 (GRCm39)	missense	probably damaging	0.99
R9792:Zbtb7a	UTSW	10	80,980,378 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TGCTGGAGCGTCAGATTCTG -3'
(R):5'- TAGTCCATGACGCCCTTGTC -3'

Sequencing Primer
(F):5'- CAGATTCTGGCGGCTGATG -3'
(R):5'- ATCCACATCAGCGGCGTC -3'

Posted On

2021-08-31