Mutagenetix > Incidental Mutation

Incidental Mutation 'R8552:Zbtb7a'

659917

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8552 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80971113-80988056 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80980141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 112 (R112W)

Ref Sequence

ENSEMBL: ENSMUSP00000114470 (fasta)

Gene Model

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

AlphaFold

O88939

Predicted Effect

probably damaging
Transcript: ENSMUST00000048128
AA Change: R112W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047333
Gene: ENSMUSG00000035011
AA Change: R112W

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 damaging
Transcript: ENSMUST00000117956
AA Change: R112W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113428
Gene: ENSMUSG00000035011
AA Change: R112W

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 damaging
Transcript: ENSMUST00000119606
AA Change: R112W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113612
Gene: ENSMUSG00000035011
AA Change: R112W

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 damaging
Transcript: ENSMUST00000121840
AA Change: R112W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113787
Gene: ENSMUSG00000035011
AA Change: R112W

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 damaging
Transcript: ENSMUST00000125261
AA Change: R112W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114470
Gene: ENSMUSG00000035011
AA Change: R112W

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: 99.2%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	A	G	6: 58,646,210 (GRCm39)	H242R	possibly damaging	Het
Adam1b	G	T	5: 121,639,504 (GRCm39)	R514S	probably benign	Het
Adprs	A	G	4: 126,210,368 (GRCm39)	*371Q	probably null	Het
Arid4a	T	C	12: 71,106,849 (GRCm39)	L307P	probably benign	Het
Armc12	C	T	17: 28,757,675 (GRCm39)	A269V	probably benign	Het
Asb1	T	A	1: 91,480,078 (GRCm39)	V259E	probably damaging	Het
Atm	T	C	9: 53,435,797 (GRCm39)	Y171C	probably damaging	Het
Atp8a2	A	T	14: 60,011,431 (GRCm39)	F959L	probably benign	Het
B4galt3	G	T	1: 171,101,917 (GRCm39)	E34D	possibly damaging	Het
Cacna1i	A	G	15: 80,204,598 (GRCm39)	N90S	possibly damaging	Het
Cdc42ep2	T	A	19: 5,968,060 (GRCm39)	*215L	probably null	Het
Cep162	C	T	9: 87,126,361 (GRCm39)	E184K	probably benign	Het
Cnga3	C	T	1: 37,284,060 (GRCm39)	P121L	probably benign	Het
Cpt1b	G	A	15: 89,306,524 (GRCm39)	R285C	probably damaging	Het
Defb18	T	C	1: 18,306,791 (GRCm39)	Y55C	probably damaging	Het
Depdc1b	C	T	13: 108,493,959 (GRCm39)	P116S	probably damaging	Het
Dhx16	C	T	17: 36,192,183 (GRCm39)	A74V	possibly damaging	Het
Dnajc21	A	T	15: 10,464,005 (GRCm39)	Y53*	probably null	Het
Dse	T	C	10: 34,028,316 (GRCm39)	R925G	possibly damaging	Het
Dsp	C	T	13: 38,369,117 (GRCm39)	L738F	probably damaging	Het
Erv3	T	C	2: 131,698,261 (GRCm39)	K33E	possibly damaging	Het
Gas2l2	T	A	11: 83,312,907 (GRCm39)	T802S	probably benign	Het
Gdf9	T	C	11: 53,324,378 (GRCm39)	L49S	possibly damaging	Het
Gigyf1	G	T	5: 137,521,401 (GRCm39)		probably benign	Het
Gm4792	T	A	10: 94,131,061 (GRCm39)	I83L	unknown	Het
Ighv9-3	A	G	12: 114,104,349 (GRCm39)	L105P	probably damaging	Het
Krtap5-1	C	A	7: 141,850,160 (GRCm39)	W189L	probably null	Het
Krtap5-3	T	A	7: 141,756,089 (GRCm39)		probably benign	Het
Lrp1b	T	A	2: 41,298,993 (GRCm39)	E108D	probably benign	Het
Lrrc66	G	A	5: 73,768,228 (GRCm39)	P238S	probably benign	Het
Ms4a4c	C	T	19: 11,392,196 (GRCm39)	Q6*	probably null	Het
Or5b97	A	G	19: 12,879,096 (GRCm39)	L16P	probably damaging	Het
Or6d14	G	T	6: 116,534,289 (GRCm39)	R301L	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pinx1	A	G	14: 64,156,972 (GRCm39)	R300G	probably benign	Het
Pkd1	T	A	17: 24,810,443 (GRCm39)	H92Q	probably damaging	Het
Rad54l2	T	A	9: 106,570,777 (GRCm39)	Q1181L	possibly damaging	Het
Rbl1	A	T	2: 157,038,174 (GRCm39)	V131E	probably damaging	Het
Rbp3	A	G	14: 33,677,621 (GRCm39)	E523G	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Slc22a20	C	A	19: 6,035,698 (GRCm39)	C130F	probably damaging	Het
Smcr8	T	C	11: 60,670,979 (GRCm39)	L709S	probably damaging	Het
Spef2	A	G	15: 9,600,765 (GRCm39)		probably benign	Het
Teddm1b	T	A	1: 153,750,194 (GRCm39)	M1K	probably null	Het
Tes	A	G	6: 17,097,327 (GRCm39)	Y60C	probably damaging	Het
Tmem104	T	C	11: 115,088,144 (GRCm39)	L43P	probably damaging	Het
Tnfaip3	T	C	10: 18,880,213 (GRCm39)	E618G	probably damaging	Het
Tnfaip3	T	C	10: 18,880,414 (GRCm39)	D551G	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Trim30b	T	A	7: 104,015,236 (GRCm39)	T51S	probably benign	Het
Trmt44	G	T	5: 35,722,744 (GRCm39)	H441Q	probably benign	Het
Tshr	C	A	12: 91,504,059 (GRCm39)	D332E	probably benign	Het
Usp10	C	T	8: 120,683,367 (GRCm39)	T746M	possibly damaging	Het
Vmn1r8	A	T	6: 57,013,138 (GRCm39)	D63V	possibly damaging	Het
Vps13a	A	C	19: 16,731,684 (GRCm39)	L143V	probably damaging	Het
Wnt3a	T	A	11: 59,166,043 (GRCm39)	H79L	probably 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
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'- GCAGCCAGTACTTCAAGAAGC -3'
(R):5'- AGTCCAAGCCATTGCAGTCG -3'

Sequencing Primer
(F):5'- TCAAGAAGCTGTTCACGTCG -3'
(R):5'- CAGGCTATTCATGGGGTTACTGC -3'

Posted On

2021-01-18