Mutagenetix > Incidental Mutation

Incidental Mutation 'R8317:Zbtb7a'

641761

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

067721-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8317 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80971113-80988056 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 80980784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 326 (G326A)

Ref Sequence

ENSEMBL: ENSMUSP00000047333 (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: G326A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000047333
Gene: ENSMUSG00000035011
AA Change: G326A

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: G326A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113428
Gene: ENSMUSG00000035011
AA Change: G326A

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: G326A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113612
Gene: ENSMUSG00000035011
AA Change: G326A

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: G326A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113787
Gene: ENSMUSG00000035011
AA Change: G326A

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,723,236 (GRCm39)	V621M	probably damaging	Het
Adipor1	C	T	1: 134,355,905 (GRCm39)	R235W	probably benign	Het
Agbl1	T	A	7: 76,071,929 (GRCm39)	M594K	unknown	Het
Ang2	A	G	14: 51,433,349 (GRCm39)	V11A	probably benign	Het
Ccl25	A	G	8: 4,404,138 (GRCm39)	N80S	probably benign	Het
Cd19	A	T	7: 126,012,615 (GRCm39)	C259*	probably null	Het
Cd209b	A	T	8: 3,972,018 (GRCm39)	I177N	probably damaging	Het
Cdc20	C	A	4: 118,294,323 (GRCm39)		probably benign	Het
Cdh23	A	T	10: 60,147,037 (GRCm39)		probably null	Het
Cdh23	G	A	10: 60,272,568 (GRCm39)	R536W	probably damaging	Het
Cfap299	A	C	5: 98,885,459 (GRCm39)	H122P	probably benign	Het
Chd6	T	C	2: 160,832,241 (GRCm39)	D977G	probably damaging	Het
Cilk1	T	A	9: 78,060,933 (GRCm39)	V193E	probably damaging	Het
Csl	T	G	10: 99,594,900 (GRCm39)	H55P	probably damaging	Het
Cstf2t	G	A	19: 31,061,648 (GRCm39)	A395T	probably benign	Het
Dhx58	A	T	11: 100,594,388 (GRCm39)	I101N	probably damaging	Het
Dlg5	A	C	14: 24,241,298 (GRCm39)	S200A	probably damaging	Het
Epb41	C	A	4: 131,684,961 (GRCm39)	G86V		Het
Fat4	T	C	3: 39,012,659 (GRCm39)	V2318A	possibly damaging	Het
Fbxo32	A	T	15: 58,068,626 (GRCm39)	F119I	probably damaging	Het
Flacc1	T	C	1: 58,715,707 (GRCm39)	K170E	possibly damaging	Het
Fndc1	A	T	17: 8,019,720 (GRCm39)	L153*	probably null	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,866 (GRCm39)		probably benign	Het
Gm4559	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	7: 141,827,553 (GRCm39)		probably benign	Het
Gpr63	A	T	4: 25,008,223 (GRCm39)	T316S	probably damaging	Het
Il16	T	C	7: 83,304,538 (GRCm39)	T665A	probably benign	Het
Lama5	T	C	2: 179,848,784 (GRCm39)	N272S	probably damaging	Het
Map3k1	T	C	13: 111,894,696 (GRCm39)	Y660C	probably damaging	Het
Mbd3l1	C	A	9: 18,396,117 (GRCm39)	L81I	probably benign	Het
Morc3	C	A	16: 93,659,417 (GRCm39)	Q442K	probably benign	Het
Muc16	G	A	9: 18,569,339 (GRCm39)	T1060I	unknown	Het
Myh11	T	A	16: 14,025,941 (GRCm39)	D1343V		Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Nbn	T	G	4: 15,970,893 (GRCm39)	L292W	probably damaging	Het
Ndufb11b	A	G	15: 81,864,978 (GRCm39)	Y73C	probably damaging	Het
Nebl	A	G	2: 17,355,568 (GRCm39)	M195T	possibly damaging	Het
Net1	T	C	13: 3,957,856 (GRCm39)	K66E	possibly damaging	Het
Nod1	T	C	6: 54,920,425 (GRCm39)	Y631C	probably damaging	Het
Nxf1	A	G	19: 8,748,407 (GRCm39)	H12R	probably benign	Het
Onecut3	T	C	10: 80,331,161 (GRCm39)	L107P	unknown	Het
Opa1	T	G	16: 29,432,962 (GRCm39)	I512S	probably damaging	Het
P3h3	C	T	6: 124,832,116 (GRCm39)	G257R	probably damaging	Het
Pappa2	A	G	1: 158,592,530 (GRCm39)	C1616R	probably damaging	Het
Parn	T	G	16: 13,358,964 (GRCm39)	K593Q	probably damaging	Het
Pcare	A	C	17: 72,056,197 (GRCm39)	L1160R	probably benign	Het
Polr3g	T	C	13: 81,826,302 (GRCm39)	K173R	unknown	Het
Prcp	A	G	7: 92,524,598 (GRCm39)	T18A	probably benign	Het
Sash1	G	A	10: 8,605,150 (GRCm39)	T1080M	possibly damaging	Het
Skap2	A	G	6: 51,884,865 (GRCm39)		probably null	Het
Spmip9	C	A	6: 70,890,276 (GRCm39)	W172L	possibly damaging	Het
Srebf1	C	A	11: 60,091,483 (GRCm39)	S1014I	possibly damaging	Het
Stk32b	C	T	5: 37,612,319 (GRCm39)	E356K	probably damaging	Het
Tjp3	T	A	10: 81,116,324 (GRCm39)	T257S	probably benign	Het
Trf	A	G	9: 103,094,715 (GRCm39)	Y448H	probably damaging	Het
Tsnaxip1	G	C	8: 106,554,438 (GRCm39)	R7P	probably benign	Het
Vmn1r208	G	C	13: 22,956,947 (GRCm39)	I183M	probably benign	Het
Vmn2r67	T	A	7: 84,785,834 (GRCm39)	M724L	probably benign	Het
Wdhd1	A	T	14: 47,500,994 (GRCm39)	H469Q	probably damaging	Het
Zfp493	G	A	13: 67,931,958 (GRCm39)	R19H	probably benign	Het
Zfp932	A	T	5: 110,156,922 (GRCm39)	K207*	probably null	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
R8552:Zbtb7a	UTSW	10	80,980,141 (GRCm39)	missense	probably damaging	1.00
R8930:Zbtb7a	UTSW	10	80,980,368 (GRCm39)	missense	probably benign	0.04
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'- ACACAGAACGGCCACTATGG -3'
(R):5'- TACACTCGTAGGGCTTCTCG -3'

Sequencing Primer
(F):5'- ACTATGGCCGTGCAGGG -3'
(R):5'- CTGAATCACCTTCTCGCAGATGG -3'

Posted On

2020-07-28