Mutagenetix > Incidental Mutation

Incidental Mutation 'R6872:Zbtb7a'

536220

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

044969-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6872 (G1)

Quality Score

166.009

Status

Not validated

Chromosome

Chromosomal Location

80971113-80988056 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80983905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 449 (N449S)

Ref Sequence

ENSEMBL: ENSMUSP00000113612 (fasta)

Gene Model

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

AlphaFold

O88939

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048128
AA Change: N449S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047333
Gene: ENSMUSG00000035011
AA Change: N449S

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

possibly damaging
Transcript: ENSMUST00000117956
AA Change: N449S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113428
Gene: ENSMUSG00000035011
AA Change: N449S

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

possibly damaging
Transcript: ENSMUST00000119606
AA Change: N449S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113612
Gene: ENSMUSG00000035011
AA Change: N449S

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

SMART Domains

Protein: ENSMUSP00000113787
Gene: ENSMUSG00000035011

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: 99.4%
20x: 98.0%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,349,750 (GRCm39)	V336I	probably benign	Het
Aadacl4fm4	A	T	4: 144,397,216 (GRCm39)	L172*	probably null	Het
Abcg3	T	C	5: 105,083,860 (GRCm39)	T637A	probably benign	Het
Ap3d1	G	A	10: 80,550,156 (GRCm39)	R692*	probably null	Het
Aqp2	C	T	15: 99,481,885 (GRCm39)	H260Y	probably benign	Het
Btbd2	C	A	10: 80,480,166 (GRCm39)	R383L	probably damaging	Het
Ccdc196	T	A	12: 78,244,141 (GRCm39)	D31E	probably damaging	Het
Ccdc24	T	C	4: 117,727,123 (GRCm39)	T196A	probably benign	Het
Cdc20b	G	A	13: 113,220,509 (GRCm39)	G463S	probably damaging	Het
Ceacam5	A	T	7: 17,486,212 (GRCm39)	R570*	probably null	Het
Col12a1	A	T	9: 79,584,516 (GRCm39)	N1357K	probably damaging	Het
Cpa5	A	T	6: 30,614,053 (GRCm39)	Q65L	probably benign	Het
Ddo	A	C	10: 40,513,414 (GRCm39)	M119L	possibly damaging	Het
Dnah8	G	T	17: 30,981,653 (GRCm39)	L3058F	probably damaging	Het
Dnajb8	A	G	6: 88,200,022 (GRCm39)	N186S	probably damaging	Het
Dock4	T	C	12: 40,862,325 (GRCm39)		probably null	Het
Ear6	A	G	14: 52,091,885 (GRCm39)	Y144C	probably damaging	Het
Eng	T	A	2: 32,563,287 (GRCm39)	I281N	probably damaging	Het
Fgf2	A	G	3: 37,458,860 (GRCm39)	K85E	probably damaging	Het
Fubp1	A	T	3: 151,931,783 (GRCm39)	Q37L	probably benign	Het
Gabra2	G	T	5: 71,251,882 (GRCm39)	P22T	probably damaging	Het
Gm10401	T	C	5: 115,236,245 (GRCm39)		probably benign	Het
Gsdmc	T	C	15: 63,650,556 (GRCm39)	D275G	possibly damaging	Het
Iglv3	A	G	16: 19,060,034 (GRCm39)	I98T	probably damaging	Het
Lmod1	G	T	1: 135,292,879 (GRCm39)	R578L	probably damaging	Het
Mindy2	A	G	9: 70,524,044 (GRCm39)		probably null	Het
Neb	G	T	2: 52,183,657 (GRCm39)	Q1004K	probably damaging	Het
Nkx2-9	T	G	12: 56,658,674 (GRCm39)	N180T	probably benign	Het
Nlrp2	C	T	7: 5,311,709 (GRCm39)	R922H	probably benign	Het
Nol4l	T	C	2: 153,325,737 (GRCm39)	E116G	probably damaging	Het
Or1af1	A	T	2: 37,109,989 (GRCm39)	M163L	possibly damaging	Het
Or5ac19	A	G	16: 59,089,961 (GRCm39)	L23P	probably benign	Het
Pcdhb20	A	C	18: 37,639,218 (GRCm39)	E581D	probably benign	Het
Pidd1	G	T	7: 141,019,331 (GRCm39)	T750K	probably benign	Het
Rab44	A	G	17: 29,358,784 (GRCm39)	E324G	probably benign	Het
Ramp3	T	C	11: 6,624,768 (GRCm39)	C21R	possibly damaging	Het
Rpap1	A	C	2: 119,605,850 (GRCm39)	M345R	probably damaging	Het
Serpina3k	A	C	12: 104,310,519 (GRCm39)	K350Q	probably benign	Het
St13	C	T	15: 81,250,547 (GRCm39)		probably null	Het
Stard9	A	T	2: 120,544,549 (GRCm39)	K4497*	probably null	Het
Tbx19	A	T	1: 164,975,202 (GRCm39)		probably null	Het
Tgoln1	A	G	6: 72,592,538 (GRCm39)	V314A	possibly damaging	Het
Them4	A	T	3: 94,231,678 (GRCm39)	I172F	probably damaging	Het
Tmc7	T	A	7: 118,146,846 (GRCm39)	Y477F	probably benign	Het
Tmem132a	A	G	19: 10,840,669 (GRCm39)	L421P	probably damaging	Het
Trim69	A	G	2: 121,998,391 (GRCm39)	E121G	probably damaging	Het
Vmn2r11	T	G	5: 109,194,976 (GRCm39)	R783S	possibly damaging	Het
Vmn2r62	T	A	7: 42,438,412 (GRCm39)	L141F	probably benign	Het
Zfhx3	C	T	8: 109,527,273 (GRCm39)	R1057W	probably damaging	Het
Zfp180	G	T	7: 23,805,306 (GRCm39)	C575F	probably damaging	Het
Zfp462	G	A	4: 55,012,326 (GRCm39)	A1431T	probably benign	Het
Zfp592	T	C	7: 80,673,576 (GRCm39)	V180A	probably benign	Het
Zfp605	C	T	5: 110,275,311 (GRCm39)	P143L	probably benign	Het
Zfp646	T	C	7: 127,482,505 (GRCm39)	S1561P	probably benign	Het
Zfp706	T	C	15: 37,002,190 (GRCm39)	T46A	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
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
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'- AATGCCAAGTGCCAGCTTTG -3'
(R):5'- AGTGCTTCTCCTGGCCATTG -3'

Sequencing Primer
(F):5'- ACCCTCTGGTTCTGAGGTCTG -3'
(R):5'- GCCGTCCTTCTTGAGGT -3'

Posted On

2018-10-18