Mutagenetix > Incidental Mutation

Incidental Mutation 'R0330:Zfp804b'

25984

Institutional Source

Beutler Lab

Gene Symbol

Zfp804b

Ensembl Gene

ENSMUSG00000092094

Gene Name

zinc finger protein 804B

Synonyms

LOC207618

MMRRC Submission

038539-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R0330 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6819030-7394378 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6821994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 356 (N356K)

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: N320K

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130571
Gene: ENSMUSG00000092094
AA Change: N320K

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: N356K

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143568
Gene: ENSMUSG00000092094
AA Change: N356K

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: 98.8%
3x: 97.7%
10x: 94.7%
20x: 88.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	C	9: 118,983,038 (GRCm39)	N120S	probably damaging	Het
Acsbg3	A	T	17: 57,190,631 (GRCm39)	I400F	probably benign	Het
Acvr1c	T	C	2: 58,174,850 (GRCm39)	T313A	probably damaging	Het
Adamtsl3	A	T	7: 82,171,198 (GRCm39)	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,978,204 (GRCm39)	C380S	probably damaging	Het
AI597479	T	G	1: 43,150,277 (GRCm39)	L129R	probably benign	Het
AI661453	G	A	17: 47,757,571 (GRCm39)	R76Q	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Anxa7	A	C	14: 20,519,566 (GRCm39)		probably null	Het
Arhgap12	T	A	18: 6,039,382 (GRCm39)	D455V	probably damaging	Het
Arhgap22	A	G	14: 33,091,374 (GRCm39)	R650G	possibly damaging	Het
Arhgef12	A	C	9: 42,931,982 (GRCm39)	H168Q	probably damaging	Het
Arhgef2	A	G	3: 88,549,808 (GRCm39)	H592R	probably damaging	Het
BC049715	A	G	6: 136,817,035 (GRCm39)	T92A	possibly damaging	Het
Bcr	C	T	10: 75,017,466 (GRCm39)	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,151,734 (GRCm39)	S185N	probably benign	Het
Calcoco1	A	T	15: 102,624,198 (GRCm39)	M246K	probably benign	Het
Capn8	T	A	1: 182,457,703 (GRCm39)	I689N	probably benign	Het
Ccno	T	A	13: 113,126,530 (GRCm39)	L333Q	probably damaging	Het
Cep57	G	A	9: 13,728,281 (GRCm39)	R148W	probably damaging	Het
Cftr	T	A	6: 18,226,096 (GRCm39)	M318K	probably null	Het
Chd3	T	G	11: 69,247,159 (GRCm39)	D1003A	probably damaging	Het
Ckmt2	T	A	13: 92,011,322 (GRCm39)	D96V	possibly damaging	Het
Cldn13	A	G	5: 134,944,176 (GRCm39)	V3A	probably benign	Het
Col17a1	T	C	19: 47,658,871 (GRCm39)	T413A	probably benign	Het
Cpne5	A	T	17: 29,430,634 (GRCm39)	L92H	probably damaging	Het
Dnaaf2	C	A	12: 69,244,518 (GRCm39)	R181L	probably damaging	Het
Erbin	C	A	13: 104,005,373 (GRCm39)	C114F	probably damaging	Het
Fads2b	T	A	2: 85,348,895 (GRCm39)	R72S	probably benign	Het
Fanca	A	T	8: 124,000,911 (GRCm39)	C1156*	probably null	Het
Flot2	T	A	11: 77,949,784 (GRCm39)	I322N	possibly damaging	Het
Fstl5	T	C	3: 76,615,060 (GRCm39)	V707A	possibly damaging	Het
Gli3	T	G	13: 15,898,143 (GRCm39)	L741R	probably damaging	Het
Gmip	G	T	8: 70,263,468 (GRCm39)	S70I	probably benign	Het
Gnptab	T	C	10: 88,276,171 (GRCm39)	S1153P	probably damaging	Het
Gramd1a	T	C	7: 30,837,679 (GRCm39)	D360G	possibly damaging	Het
Gtf2i	T	C	5: 134,280,740 (GRCm39)	E518G	probably damaging	Het
Hsp90b1	T	C	10: 86,530,019 (GRCm39)	E226G	probably damaging	Het
Impg2	A	G	16: 56,072,627 (GRCm39)	Y353C	probably damaging	Het
Kank1	A	G	19: 25,401,677 (GRCm39)	K1095E	probably benign	Het
Kcnh4	C	T	11: 100,648,569 (GRCm39)	C45Y	probably damaging	Het
Kif13b	A	G	14: 65,040,669 (GRCm39)	T1590A	probably benign	Het
Lpin3	T	C	2: 160,747,225 (GRCm39)	V827A	probably benign	Het
Lrp1b	A	T	2: 40,591,773 (GRCm39)	C73*	probably null	Het
Mcm8	A	G	2: 132,661,914 (GRCm39)	K83E	possibly damaging	Het
Med12l	A	G	3: 59,135,123 (GRCm39)	E757G	probably damaging	Het
Mep1a	A	G	17: 43,808,789 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,568,837 (GRCm39)	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,158,453 (GRCm39)	A710T	possibly damaging	Het
Myof	A	C	19: 37,924,326 (GRCm39)	I1297S	probably damaging	Het
Nacad	A	G	11: 6,550,903 (GRCm39)	S763P	probably benign	Het
Nbea	A	G	3: 55,550,238 (GRCm39)	V2730A	probably benign	Het
Nbeal1	A	G	1: 60,307,222 (GRCm39)	Y1684C	probably damaging	Het
Optn	A	T	2: 5,039,066 (GRCm39)	N352K	possibly damaging	Het
Or10k2	A	G	8: 84,268,142 (GRCm39)	Y123C	probably damaging	Het
Or2g1	A	T	17: 38,106,880 (GRCm39)	M182L	probably benign	Het
Or7g16	A	G	9: 18,726,937 (GRCm39)	Y218H	probably damaging	Het
Or9g4b	T	A	2: 85,616,147 (GRCm39)	C97*	probably null	Het
Pcif1	G	T	2: 164,731,364 (GRCm39)	R466L	probably damaging	Het
Phxr2	T	C	10: 98,961,979 (GRCm39)		probably benign	Het
Plaat5	T	A	19: 7,614,663 (GRCm39)		probably null	Het
Plb1	T	A	5: 32,512,701 (GRCm39)	F1353Y	probably damaging	Het
Plec	A	G	15: 76,075,618 (GRCm39)		probably null	Het
Polr1a	T	A	6: 71,943,400 (GRCm39)	C1212S	possibly damaging	Het
Primpol	A	T	8: 47,063,496 (GRCm39)	N53K	probably damaging	Het
Pygo2	T	A	3: 89,340,461 (GRCm39)	N286K	possibly damaging	Het
Rttn	G	A	18: 89,004,204 (GRCm39)		probably null	Het
Serpinb3b	G	T	1: 107,087,433 (GRCm39)	N25K	probably damaging	Het
Sidt2	A	G	9: 45,866,200 (GRCm39)	I2T	probably benign	Het
Slc12a3	A	T	8: 95,072,974 (GRCm39)	N699I	possibly damaging	Het
Slc25a30	G	A	14: 76,000,112 (GRCm39)	Q285*	probably null	Het
Slc4a9	A	T	18: 36,668,592 (GRCm39)	H724L	probably damaging	Het
Ssbp2	T	A	13: 91,828,698 (GRCm39)		probably null	Het
Stac3	C	A	10: 127,343,616 (GRCm39)		probably null	Het
Stk32a	A	G	18: 43,446,566 (GRCm39)	K339E	probably benign	Het
Stoml2	A	G	4: 43,030,238 (GRCm39)		probably null	Het
Syne2	G	T	12: 76,013,727 (GRCm39)	G2974C	probably benign	Het
Tbc1d16	A	G	11: 119,049,555 (GRCm39)		probably null	Het
Tfdp2	T	G	9: 96,188,946 (GRCm39)	F200V	probably damaging	Het
Tie1	C	A	4: 118,341,924 (GRCm39)	R175L	probably benign	Het
Trappc12	A	G	12: 28,797,259 (GRCm39)	V91A	probably benign	Het
Trim46	G	T	3: 89,143,820 (GRCm39)	P536Q	probably damaging	Het
Tshz3	T	A	7: 36,469,458 (GRCm39)	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,091 (GRCm39)		probably null	Het
Unc80	T	C	1: 66,713,246 (GRCm39)	L2788P	possibly damaging	Het
Utp20	T	A	10: 88,653,841 (GRCm39)	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,917,717 (GRCm39)	T265K	probably damaging	Het
Vmn2r98	A	C	17: 19,286,609 (GRCm39)	H369P	probably benign	Het
Vps39	A	T	2: 120,169,268 (GRCm39)	Y245N	possibly damaging	Het
Vps4a	A	C	8: 107,769,698 (GRCm39)	I336L	probably benign	Het
Xylb	T	C	9: 119,210,653 (GRCm39)	S379P	probably damaging	Het
Zbtb37	T	C	1: 160,860,066 (GRCm39)	T80A	probably benign	Het
Zfhx3	A	G	8: 109,675,589 (GRCm39)	D2213G	probably damaging	Het
Zfp729a	G	T	13: 67,768,473 (GRCm39)	H585Q	probably 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	6,821,029 (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
R7717:Zfp804b	UTSW	5	6,821,293 (GRCm39)	missense	possibly damaging	0.50
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'- CATCTGAAGACTTTGCTCTGGCCTC -3'
(R):5'- GAAGCTGTCCTTTCAGCAAGCAATC -3'

Sequencing Primer
(F):5'- TGGCCTCCATTCTTGAGTTAG -3'
(R):5'- TTTCAGCAAGCAATCTGGAGG -3'

Posted On

2013-04-16