Mutagenetix > Incidental Mutation

Incidental Mutation 'R0562:Zbtb7a'

215971

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

038753-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0562 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

80971113-80988056 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80984163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 535 (E535G)

Ref Sequence

ENSEMBL: ENSMUSP00000113612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005064] [ENSMUST00000048128] [ENSMUST00000117956] [ENSMUST00000119606] [ENSMUST00000121840] [ENSMUST00000125261] [ENSMUST00000146895]

AlphaFold

O88939

Predicted Effect

probably benign
Transcript: ENSMUST00000005064

SMART Domains

Protein: ENSMUSP00000005064
Gene: ENSMUSG00000004934

Domain	Start	End	E-Value	Type
SAP	12	46	4.44e-7	SMART
Pfam:PINIT	123	270	9.6e-35	PFAM
Pfam:zf-MIZ	315	364	2.4e-24	PFAM
low complexity region	429	454	N/A	INTRINSIC
low complexity region	469	489	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048128
AA Change: E535G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000047333
Gene: ENSMUSG00000035011
AA Change: E535G

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: E535G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000113428
Gene: ENSMUSG00000035011
AA Change: E535G

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: E535G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000113612
Gene: ENSMUSG00000035011
AA Change: E535G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	C	T	7: 131,027,518 (GRCm39)	Q63*	probably null	Het
Adam26b	A	T	8: 43,973,408 (GRCm39)	N531K	probably benign	Het
Agt	A	G	8: 125,286,014 (GRCm39)	I356T	probably benign	Het
Ankmy1	A	T	1: 92,827,413 (GRCm39)		probably benign	Het
Anxa3	C	T	5: 96,960,743 (GRCm39)	S49L	possibly damaging	Het
Arap3	C	A	18: 38,108,593 (GRCm39)	R1279L	probably damaging	Het
Azin1	A	G	15: 38,493,825 (GRCm39)	I266T	probably benign	Het
Btnl7-ps	T	C	17: 34,752,498 (GRCm39)		noncoding transcript	Het
Car5a	T	A	8: 122,671,469 (GRCm39)	T22S	probably benign	Het
Card6	A	G	15: 5,134,648 (GRCm39)	I185T	probably damaging	Het
Ccdc81	T	C	7: 89,552,437 (GRCm39)	D11G	probably benign	Het
Cep170b	T	C	12: 112,705,623 (GRCm39)	V1127A	probably benign	Het
Ces1h	T	C	8: 94,083,771 (GRCm39)	I390M	unknown	Het
Col9a1	T	A	1: 24,218,360 (GRCm39)		probably null	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Cyb561a3	T	C	19: 10,564,074 (GRCm39)	V138A	probably benign	Het
Dcaf1	T	C	9: 106,721,321 (GRCm39)		probably benign	Het
Dnah17	A	G	11: 117,963,726 (GRCm39)	Y2516H	probably damaging	Het
Dsc2	T	A	18: 20,174,594 (GRCm39)	N521Y	probably damaging	Het
Dst	G	A	1: 34,267,062 (GRCm39)	E4835K	probably damaging	Het
Duox2	T	C	2: 122,120,080 (GRCm39)	E810G	probably damaging	Het
Dusp15	T	C	2: 152,793,268 (GRCm39)	N3S	possibly damaging	Het
Eif1ad9	A	G	12: 88,296,436 (GRCm39)	D138G	unknown	Het
Epha4	T	C	1: 77,365,124 (GRCm39)	K625R	probably benign	Het
Fcgbpl1	G	A	7: 27,862,115 (GRCm39)	V2394I	probably benign	Het
Gata5	C	T	2: 179,969,552 (GRCm39)		probably null	Het
Grm5	A	G	7: 87,252,227 (GRCm39)	N159S	probably damaging	Het
Hivep3	T	A	4: 119,953,751 (GRCm39)	M689K	probably benign	Het
Ift56	T	A	6: 38,378,064 (GRCm39)	V292E	probably damaging	Het
Ilvbl	G	T	10: 78,419,321 (GRCm39)	G499C	probably damaging	Het
Inpp4b	T	C	8: 82,494,780 (GRCm39)	I65T	possibly damaging	Het
Jarid2	T	C	13: 45,055,835 (GRCm39)	V208A	probably damaging	Het
Kcnh4	T	C	11: 100,641,070 (GRCm39)	M460V	possibly damaging	Het
Klhl22	A	G	16: 17,610,488 (GRCm39)	N580D	probably benign	Het
Klk15	T	A	7: 43,588,269 (GRCm39)	C192*	probably null	Het
Klk1b9	A	G	7: 43,445,090 (GRCm39)	E194G	probably damaging	Het
Lama1	G	T	17: 68,122,954 (GRCm39)	G2779V	probably damaging	Het
Lmln	C	T	16: 32,937,455 (GRCm39)	R607*	probably null	Het
Maea	T	C	5: 33,529,645 (GRCm39)	V377A	probably benign	Het
Matk	A	T	10: 81,095,525 (GRCm39)	Y115F	probably benign	Het
Mettl18	A	G	1: 163,824,062 (GRCm39)	K128E	probably benign	Het
Mrps22	T	C	9: 98,474,746 (GRCm39)	H246R	probably benign	Het
Msln	A	T	17: 25,971,980 (GRCm39)	M79K	probably benign	Het
Myf6	G	A	10: 107,330,420 (GRCm39)	P49L	probably benign	Het
Nat1	C	T	8: 67,943,963 (GRCm39)	T113I	possibly damaging	Het
Ncor2	C	T	5: 125,162,093 (GRCm39)	V394M	unknown	Het
Oas1c	T	C	5: 120,943,669 (GRCm39)		probably benign	Het
Or8k21	T	A	2: 86,144,869 (GRCm39)	T254S	probably benign	Het
Otp	A	T	13: 95,013,917 (GRCm39)	T112S	probably damaging	Het
Pcdh7	A	G	5: 57,877,405 (GRCm39)	N320S	probably damaging	Het
Pdzd2	G	T	15: 12,592,364 (GRCm39)	F93L	probably damaging	Het
Phf20l1	A	G	15: 66,481,453 (GRCm39)	E283G	probably damaging	Het
Polr1e	T	C	4: 45,029,421 (GRCm39)	F342S	probably damaging	Het
Pp2d1	T	A	17: 53,846,196 (GRCm39)		probably benign	Het
Ptpn13	T	A	5: 103,664,291 (GRCm39)		probably null	Het
Reg3g	A	T	6: 78,444,471 (GRCm39)	H107Q	possibly damaging	Het
Rgl1	T	C	1: 152,415,696 (GRCm39)	K408E	probably damaging	Het
Samd4	T	C	14: 47,314,966 (GRCm39)	C309R	probably damaging	Het
Sestd1	C	A	2: 77,061,066 (GRCm39)	W104L	probably benign	Het
Sfmbt1	T	A	14: 30,533,330 (GRCm39)		probably null	Het
Slc22a21	T	A	11: 53,870,446 (GRCm39)	K80*	probably null	Het
Snx20	T	A	8: 89,356,630 (GRCm39)	Q62L	probably benign	Het
Spef1l	T	C	7: 139,557,026 (GRCm39)	M120V	probably benign	Het
Stk40	C	A	4: 126,032,594 (GRCm39)		probably benign	Het
Taf2	A	T	15: 54,885,584 (GRCm39)		probably benign	Het
Tcf23	C	T	5: 31,127,654 (GRCm39)	P152L	probably damaging	Het
Tex29	T	C	8: 11,894,138 (GRCm39)		probably benign	Het
Tjp3	A	G	10: 81,116,389 (GRCm39)	V235A	probably damaging	Het
Tns3	A	T	11: 8,443,262 (GRCm39)	I367N	possibly damaging	Het
Ttn	T	A	2: 76,543,255 (GRCm39)	M33244L	probably benign	Het
Ush2a	A	T	1: 188,089,044 (GRCm39)	N333I	probably damaging	Het
Usp34	T	C	11: 23,382,406 (GRCm39)		probably benign	Het
Vmn1r204	A	C	13: 22,740,848 (GRCm39)	S160R	probably benign	Het
Vmn2r75	C	T	7: 85,797,449 (GRCm39)	W788*	probably null	Het
Vwa5b1	T	C	4: 138,363,022 (GRCm39)		probably benign	Het
Zfp1004	T	A	2: 150,034,494 (GRCm39)	C303S	probably damaging	Het
Zranb3	T	C	1: 127,964,295 (GRCm39)	D144G	probably benign	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
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
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'- AGTGCGATAGCTGCTGCAAGAC -3'
(R):5'- AACTGCTTACTCGTGGTGCTGG -3'

Sequencing Primer
(F):5'- ATAGCTGCTGCAAGACCTTTG -3'
(R):5'- GGGGTGGGTGGTGGTTTC -3'

Posted On

2014-07-16