Mutagenetix > Incidental Mutation

Incidental Mutation 'R9285:Zfp804b'

703855

Institutional Source

Beutler Lab

Gene Symbol

Zfp804b

Ensembl Gene

ENSMUSG00000092094

Gene Name

zinc finger protein 804B

Synonyms

LOC207618

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6819030-7394378 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6820723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 780 (N780S)

Ref Sequence

ENSEMBL: ENSMUSP00000143568 (fasta)

Gene Model

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

AlphaFold

A0A0G2JGH6

Predicted Effect

probably benign
Transcript: ENSMUST00000164784
AA Change: N744S

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000130571
Gene: ENSMUSG00000092094
AA Change: N744S

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

probably benign
Transcript: ENSMUST00000200317
AA Change: N780S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000143568
Gene: ENSMUSG00000092094
AA Change: N780S

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

Meta Mutation Damage Score

0.1032

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	T	6: 128,526,756 (GRCm39)	T1085K	probably benign	Het
Asxl3	A	T	18: 22,654,989 (GRCm39)	I1000F	probably damaging	Het
Atp2c2	A	G	8: 120,465,141 (GRCm39)	M308V	probably benign	Het
Chd3	G	T	11: 69,249,954 (GRCm39)	R736S	possibly damaging	Het
Chst9	T	A	18: 15,586,017 (GRCm39)	H182L	probably damaging	Het
Cnot1	A	G	8: 96,452,746 (GRCm39)	F2112S	probably damaging	Het
Csmd1	A	T	8: 15,956,088 (GRCm39)	L3373H	probably damaging	Het
Ctsll3	T	A	13: 60,946,402 (GRCm39)	D303V	probably benign	Het
Cyp7b1	T	A	3: 18,151,564 (GRCm39)	K216N	probably damaging	Het
Dock9	A	C	14: 121,833,012 (GRCm39)	F1315V	probably benign	Het
Eme2	T	C	17: 25,108,132 (GRCm39)		probably benign	Het
Eml2	A	G	7: 18,925,568 (GRCm39)	I222M	probably damaging	Het
Ggcx	T	A	6: 72,395,402 (GRCm39)	Y164*	probably null	Het
Gm20939	T	C	17: 95,184,188 (GRCm39)	F279L	probably damaging	Het
Gm44511	T	C	6: 128,777,017 (GRCm39)		probably benign	Het
Gprin1	A	G	13: 54,886,523 (GRCm39)	S584P	probably damaging	Het
Ighv2-2	A	T	12: 113,551,903 (GRCm39)	Y112N	probably damaging	Het
Kansl3	T	C	1: 36,383,148 (GRCm39)		probably benign	Het
Kcnu1	T	A	8: 26,381,611 (GRCm39)	I449K	probably damaging	Het
Lima1	T	C	15: 99,678,687 (GRCm39)	R585G	probably damaging	Het
Lrrk2	T	A	15: 91,662,686 (GRCm39)	V1905E	probably damaging	Het
Map3k6	T	A	4: 132,972,870 (GRCm39)	V343E	probably damaging	Het
Mei1	T	C	15: 81,985,170 (GRCm39)	F279S		Het
Mgat3	A	G	15: 80,096,538 (GRCm39)	D455G	probably damaging	Het
Mycbp2	T	A	14: 103,434,753 (GRCm39)	Q2230L	probably damaging	Het
Myog	T	C	1: 134,218,895 (GRCm39)	F179S	possibly damaging	Het
Nlrc5	A	C	8: 95,199,604 (GRCm39)	I72L	probably damaging	Het
Or2ag1	T	C	7: 106,472,715 (GRCm39)	T246A	probably benign	Het
Or4k2	A	C	14: 50,424,122 (GRCm39)	V185G	probably benign	Het
Or4s2b	T	A	2: 88,508,680 (GRCm39)	H153Q	probably damaging	Het
Or5k15	T	A	16: 58,710,569 (GRCm39)	K5*	probably null	Het
Or5p5	C	T	7: 107,413,821 (GRCm39)	T10I	probably damaging	Het
Pcdh18	A	G	3: 49,707,786 (GRCm39)	L895P	probably damaging	Het
Pibf1	C	T	14: 99,480,345 (GRCm39)	T707M	probably benign	Het
Ptk2b	A	T	14: 66,410,844 (GRCm39)	Y418N	possibly damaging	Het
Ptx4	T	G	17: 25,343,930 (GRCm39)	Y393*	probably null	Het
Sass6	C	A	3: 116,422,354 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Spatc1l	T	C	10: 76,398,264 (GRCm39)	V22A	probably damaging	Het
Strc	T	C	2: 121,195,279 (GRCm39)	E1668G	probably damaging	Het
Sulf2	T	A	2: 165,935,435 (GRCm39)	H226L	probably damaging	Het
Sun5	T	C	2: 153,709,426 (GRCm39)		probably benign	Het
Svep1	C	T	4: 58,084,809 (GRCm39)		probably null	Het
Tektl1	C	A	10: 78,588,234 (GRCm39)		probably benign	Het
Xylt2	A	T	11: 94,558,536 (GRCm39)	I540N	probably benign	Het
Zfp983	T	A	17: 21,876,520 (GRCm39)	M8K	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
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
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'- TTGTGCTGAGATTCCTGGCC -3'
(R):5'- ACATGTCCAGCTGGAGAAAC -3'

Sequencing Primer
(F):5'- GCTGAGATTCCTGGCCATTAAAG -3'
(R):5'- CACGTGTACAAGTCATAGGTCC -3'

Posted On

2022-03-25