Mutagenetix > Incidental Mutation

Incidental Mutation 'R7717:Zfp804b'

594969

Institutional Source

Beutler Lab

Gene Symbol

Zfp804b

Ensembl Gene

ENSMUSG00000092094

Gene Name

zinc finger protein 804B

Synonyms

LOC207618

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R7717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6819030-7394378 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6821293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 590 (N590S)

Ref Sequence

ENSEMBL: ENSMUSP00000143568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164784] [ENSMUST00000200317]

AlphaFold

A0A0G2JGH6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164784
AA Change: N554S

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130571
Gene: ENSMUSG00000092094
AA Change: N554S

Domain	Start	End	E-Value	Type
ZnF_C2H2	20	44	4.81e0	SMART
low complexity region	922	934	N/A	INTRINSIC
low complexity region	1119	1143	N/A	INTRINSIC
low complexity region	1160	1171	N/A	INTRINSIC
low complexity region	1179	1198	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200317
AA Change: N590S

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143568
Gene: ENSMUSG00000092094
AA Change: N590S

Domain	Start	End	E-Value	Type
ZnF_C2H2	56	80	2e-2	SMART
low complexity region	958	970	N/A	INTRINSIC
low complexity region	1155	1179	N/A	INTRINSIC
low complexity region	1196	1207	N/A	INTRINSIC
low complexity region	1215	1234	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	T	C	17: 43,761,644 (GRCm39)	L1113P	probably damaging	Het
Aldh3b3	T	C	19: 4,013,970 (GRCm39)	L57P	probably damaging	Het
Asb15	A	G	6: 24,559,251 (GRCm39)	D132G	probably benign	Het
Cep290	C	T	10: 100,328,543 (GRCm39)	R111W	probably benign	Het
Cfap44	A	G	16: 44,250,298 (GRCm39)	D792G	probably damaging	Het
Col20a1	C	T	2: 180,649,408 (GRCm39)	R1029W	probably damaging	Het
Csf3r	A	G	4: 125,931,403 (GRCm39)	Y462C	probably damaging	Het
Cthrc1	T	C	15: 38,940,511 (GRCm39)	V38A	probably benign	Het
Cxcr2	T	C	1: 74,197,998 (GRCm39)	V164A	probably benign	Het
Efr3b	A	G	12: 4,034,574 (GRCm39)	S199P	probably damaging	Het
Elavl4	A	G	4: 110,063,663 (GRCm39)	C342R	probably damaging	Het
Gemin5	A	T	11: 58,042,356 (GRCm39)		probably null	Het
Gm14190	A	T	11: 99,581,476 (GRCm39)	C31S	unknown	Het
Golt1b	T	A	6: 142,339,769 (GRCm39)	V78D	probably damaging	Het
Gsdmc3	T	A	15: 63,741,061 (GRCm39)	D29V	probably damaging	Het
Itih1	T	A	14: 30,653,142 (GRCm39)	D766V	probably damaging	Het
Larp1b	C	T	3: 40,926,879 (GRCm39)	S251F	probably damaging	Het
Lrp8	A	G	4: 107,691,940 (GRCm39)	T115A	probably benign	Het
Lrrc37a	A	G	11: 103,395,126 (GRCm39)	S100P	probably benign	Het
Lss	T	C	10: 76,381,286 (GRCm39)	V424A	possibly damaging	Het
Ltbp1	T	C	17: 75,597,073 (GRCm39)	V568A	possibly damaging	Het
Myo10	A	T	15: 25,732,056 (GRCm39)	T311S	probably benign	Het
Nsd3	T	C	8: 26,172,578 (GRCm39)	V779A	probably benign	Het
Or10ak12	A	T	4: 118,666,130 (GRCm39)	S310R	probably damaging	Het
Or11h23	T	A	14: 50,948,219 (GRCm39)	L144Q	probably damaging	Het
Or2ag16	A	G	7: 106,351,843 (GRCm39)	W251R	possibly damaging	Het
Or2n1e	C	A	17: 38,586,471 (GRCm39)	Q270K	probably damaging	Het
Or51v8	T	C	7: 103,320,152 (GRCm39)	T29A	probably benign	Het
Or5b21	A	T	19: 12,839,159 (GRCm39)	I7F	probably benign	Het
Pak1	T	A	7: 97,535,555 (GRCm39)	D215E	probably benign	Het
Pde7b	A	G	10: 20,282,937 (GRCm39)	F355L	probably benign	Het
Phaf1	C	A	8: 105,978,236 (GRCm39)	Q397K	probably benign	Het
Pi4ka	A	G	16: 17,194,787 (GRCm39)	S204P		Het
Pirb	T	C	7: 3,720,782 (GRCm39)	K239E	not run	Het
Pirb	C	T	7: 3,720,800 (GRCm39)	G233R	not run	Het
Pnp	G	A	14: 51,188,460 (GRCm39)	M211I	probably benign	Het
Pot1a	A	T	6: 25,758,822 (GRCm39)	L319Q	probably benign	Het
Rspry1	G	T	8: 95,349,750 (GRCm39)	C46F	probably damaging	Het
Sanbr	A	C	11: 23,556,757 (GRCm39)	C408G	probably benign	Het
Sec11c	C	T	18: 65,945,783 (GRCm39)	T82M	possibly damaging	Het
Secisbp2	T	C	13: 51,827,134 (GRCm39)	V414A	probably benign	Het
Tenm2	A	G	11: 36,755,762 (GRCm39)	F79L	probably damaging	Het
Vmn2r2	A	G	3: 64,042,019 (GRCm39)	V232A	possibly damaging	Het
Zbtb17	T	C	4: 141,193,394 (GRCm39)	S593P	probably damaging	Het
Zfp143	T	G	7: 109,685,427 (GRCm39)	C419G	possibly damaging	Het

Other mutations in Zfp804b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Zfp804b	APN	5	6,820,931 (GRCm39)	missense	probably damaging	1.00
IGL01726:Zfp804b	APN	5	7,230,707 (GRCm39)	intron	probably benign
IGL02020:Zfp804b	APN	5	6,819,118 (GRCm39)	missense	probably damaging	1.00
IGL02567:Zfp804b	APN	5	6,819,989 (GRCm39)	missense	probably benign	0.02
IGL02679:Zfp804b	APN	5	6,821,392 (GRCm39)	missense	possibly damaging	0.50
IGL03245:Zfp804b	APN	5	6,822,253 (GRCm39)	missense	possibly damaging	0.92
IGL03352:Zfp804b	APN	5	6,820,039 (GRCm39)	missense	probably benign	0.45
Flush	UTSW	5	6,820,217 (GRCm39)	missense	probably benign	0.27
gozinta	UTSW	5	6,820,153 (GRCm39)	missense	possibly damaging	0.90
healthy	UTSW	5	6,820,013 (GRCm39)	missense	probably benign	0.04
Paluka	UTSW	5	6,820,534 (GRCm39)	missense	probably benign
PIT4142001:Zfp804b	UTSW	5	6,819,422 (GRCm39)	missense	probably damaging	0.99
R0025:Zfp804b	UTSW	5	6,821,665 (GRCm39)	missense	probably damaging	1.00
R0044:Zfp804b	UTSW	5	6,819,655 (GRCm39)	missense	probably damaging	1.00
R0137:Zfp804b	UTSW	5	6,820,534 (GRCm39)	missense	probably benign
R0330:Zfp804b	UTSW	5	6,821,994 (GRCm39)	missense	possibly damaging	0.63
R0330:Zfp804b	UTSW	5	6,821,029 (GRCm39)	missense	possibly damaging	0.83
R0522:Zfp804b	UTSW	5	6,822,014 (GRCm39)	missense	probably benign	0.05
R1463:Zfp804b	UTSW	5	7,229,372 (GRCm39)	intron	probably benign
R1497:Zfp804b	UTSW	5	6,821,105 (GRCm39)	missense	probably damaging	0.97
R1511:Zfp804b	UTSW	5	6,819,771 (GRCm39)	missense	possibly damaging	0.87
R1633:Zfp804b	UTSW	5	7,229,513 (GRCm39)	intron	probably benign
R1666:Zfp804b	UTSW	5	6,821,323 (GRCm39)	missense	possibly damaging	0.93
R1668:Zfp804b	UTSW	5	6,821,323 (GRCm39)	missense	possibly damaging	0.93
R1677:Zfp804b	UTSW	5	7,229,533 (GRCm39)	intron	probably benign
R1698:Zfp804b	UTSW	5	6,819,509 (GRCm39)	missense	probably damaging	1.00
R1716:Zfp804b	UTSW	5	6,819,673 (GRCm39)	missense	probably benign	0.00
R1730:Zfp804b	UTSW	5	6,821,938 (GRCm39)	missense	probably damaging	0.99
R1747:Zfp804b	UTSW	5	6,820,217 (GRCm39)	missense	probably benign	0.27
R1776:Zfp804b	UTSW	5	6,819,806 (GRCm39)	missense	probably damaging	1.00
R1783:Zfp804b	UTSW	5	6,821,938 (GRCm39)	missense	probably damaging	0.99
R1804:Zfp804b	UTSW	5	6,821,756 (GRCm39)	missense	possibly damaging	0.78
R1885:Zfp804b	UTSW	5	6,820,376 (GRCm39)	missense	probably damaging	0.97
R1887:Zfp804b	UTSW	5	6,820,376 (GRCm39)	missense	probably damaging	0.97
R1900:Zfp804b	UTSW	5	6,819,283 (GRCm39)	missense	probably damaging	0.99
R1929:Zfp804b	UTSW	5	6,819,748 (GRCm39)	missense	probably benign	0.05
R2141:Zfp804b	UTSW	5	6,822,583 (GRCm39)	missense	probably benign	0.11
R2181:Zfp804b	UTSW	5	6,821,674 (GRCm39)	missense	probably damaging	1.00
R2401:Zfp804b	UTSW	5	6,819,445 (GRCm39)	missense	probably damaging	1.00
R2408:Zfp804b	UTSW	5	7,229,410 (GRCm39)	intron	probably benign
R3237:Zfp804b	UTSW	5	6,819,239 (GRCm39)	missense	probably benign
R3429:Zfp804b	UTSW	5	7,230,625 (GRCm39)	intron	probably benign
R3785:Zfp804b	UTSW	5	6,820,153 (GRCm39)	missense	possibly damaging	0.90
R4459:Zfp804b	UTSW	5	6,821,481 (GRCm39)	missense	probably damaging	0.99
R4460:Zfp804b	UTSW	5	6,821,481 (GRCm39)	missense	probably damaging	0.99
R4608:Zfp804b	UTSW	5	6,822,584 (GRCm39)	missense	probably benign	0.04
R4762:Zfp804b	UTSW	5	6,822,250 (GRCm39)	missense	probably benign	0.00
R4871:Zfp804b	UTSW	5	6,926,479 (GRCm39)	missense	probably damaging	1.00
R4910:Zfp804b	UTSW	5	6,820,540 (GRCm39)	missense	possibly damaging	0.69
R4973:Zfp804b	UTSW	5	6,821,198 (GRCm39)	missense	probably damaging	0.99
R5199:Zfp804b	UTSW	5	6,820,013 (GRCm39)	missense	probably benign	0.04
R5219:Zfp804b	UTSW	5	6,820,703 (GRCm39)	missense	probably benign	0.01
R5411:Zfp804b	UTSW	5	6,820,071 (GRCm39)	missense	probably benign	0.00
R6001:Zfp804b	UTSW	5	6,819,043 (GRCm39)	missense	probably benign	0.00
R6041:Zfp804b	UTSW	5	6,821,231 (GRCm39)	missense	probably benign	0.08
R6151:Zfp804b	UTSW	5	6,819,910 (GRCm39)	missense	probably benign
R6252:Zfp804b	UTSW	5	6,819,478 (GRCm39)	missense	probably damaging	0.99
R6283:Zfp804b	UTSW	5	6,819,908 (GRCm39)	missense	probably benign	0.01
R6346:Zfp804b	UTSW	5	6,820,534 (GRCm39)	missense	probably benign
R6520:Zfp804b	UTSW	5	6,819,283 (GRCm39)	missense	probably damaging	0.99
R6714:Zfp804b	UTSW	5	6,819,239 (GRCm39)	missense	probably benign	0.00
R6924:Zfp804b	UTSW	5	6,819,902 (GRCm39)	missense	probably benign	0.09
R6966:Zfp804b	UTSW	5	6,821,615 (GRCm39)	missense	probably damaging	1.00
R7027:Zfp804b	UTSW	5	6,820,372 (GRCm39)	missense	probably benign
R7042:Zfp804b	UTSW	5	6,820,042 (GRCm39)	missense	probably benign	0.00
R7076:Zfp804b	UTSW	5	6,819,751 (GRCm39)	missense	probably benign	0.02
R7099:Zfp804b	UTSW	5	6,822,161 (GRCm39)	missense	probably benign	0.37
R7574:Zfp804b	UTSW	5	6,822,301 (GRCm39)	missense	possibly damaging	0.74
R7609:Zfp804b	UTSW	5	6,820,066 (GRCm39)	missense	possibly damaging	0.90
R7654:Zfp804b	UTSW	5	6,819,458 (GRCm39)	missense	probably damaging	0.97
R7669:Zfp804b	UTSW	5	6,819,362 (GRCm39)	missense	probably damaging	1.00
R7721:Zfp804b	UTSW	5	6,821,263 (GRCm39)	missense	possibly damaging	0.55
R7830:Zfp804b	UTSW	5	6,821,124 (GRCm39)	missense	probably benign
R7937:Zfp804b	UTSW	5	6,821,866 (GRCm39)	missense	possibly damaging	0.49
R7941:Zfp804b	UTSW	5	6,820,042 (GRCm39)	missense	probably benign	0.00
R8093:Zfp804b	UTSW	5	6,820,082 (GRCm39)	missense	probably benign	0.02
R8275:Zfp804b	UTSW	5	6,822,289 (GRCm39)	missense	probably benign	0.00
R8714:Zfp804b	UTSW	5	6,822,378 (GRCm39)	nonsense	probably null
R8788:Zfp804b	UTSW	5	6,822,635 (GRCm39)	missense	probably benign	0.00
R9206:Zfp804b	UTSW	5	6,822,154 (GRCm39)	missense	probably benign	0.37
R9223:Zfp804b	UTSW	5	6,821,496 (GRCm39)	missense	probably benign	0.02
R9276:Zfp804b	UTSW	5	6,821,398 (GRCm39)	missense	probably damaging	0.96
R9285:Zfp804b	UTSW	5	6,820,723 (GRCm39)	missense	probably benign	0.02
R9534:Zfp804b	UTSW	5	6,819,115 (GRCm39)	missense	probably damaging	1.00
X0027:Zfp804b	UTSW	5	6,821,257 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTGATCCCCTGATGTGTAAGG -3'
(R):5'- TCTCTGAAACCAAAGATGAGTGTAGC -3'

Sequencing Primer
(F):5'- CCCTGATGTGTAAGGACTAAAATTCC -3'
(R):5'- GCTAACCTAGATTGGGAAAAGTTC -3'

Posted On

2019-11-12