Mutagenetix > Incidental Mutation

Incidental Mutation 'R4807:Zfp820'

370792

Institutional Source

Beutler Lab

Gene Symbol

Zfp820

Ensembl Gene

ENSMUSG00000069743

Gene Name

zinc finger protein 820

Synonyms

2610036F08Rik

MMRRC Submission

042426-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R4807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22035857-22064740 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 22042853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000081158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084141]

AlphaFold

A0A3B2W7H5

Predicted Effect

probably null
Transcript: ENSMUST00000084141
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081158
Gene: ENSMUSG00000069743
AA Change: M1K

Domain	Start	End	E-Value	Type
KRAB	13	73	8.77e-20	SMART
ZnF_C2H2	183	205	6.32e-3	SMART
ZnF_C2H2	211	233	2.79e-4	SMART
ZnF_C2H2	239	261	4.3e-5	SMART
ZnF_C2H2	267	289	4.61e-5	SMART
ZnF_C2H2	295	317	1.2e-3	SMART
ZnF_C2H2	323	345	1.22e-4	SMART
ZnF_C2H2	351	373	2.75e-3	SMART
ZnF_C2H2	379	401	2.95e-3	SMART
ZnF_C2H2	407	429	5.29e-5	SMART
ZnF_C2H2	435	457	1.42e-5	SMART
ZnF_C2H2	463	485	1.2e-3	SMART
ZnF_C2H2	491	513	1.13e-4	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (86/88)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	T	7: 120,139,832 (GRCm39)	A1499V	probably damaging	Het
Agap3	T	A	5: 24,682,114 (GRCm39)	D386E	probably damaging	Het
Ahdc1	C	A	4: 132,791,624 (GRCm39)	T955K	possibly damaging	Het
Ankrd9	A	G	12: 110,943,669 (GRCm39)	Y122H	probably benign	Het
Apc2	G	T	10: 80,150,196 (GRCm39)	R1721L	probably benign	Het
Arfgef3	A	G	10: 18,522,385 (GRCm39)	V547A	probably benign	Het
Arhgap42	T	C	9: 9,046,629 (GRCm39)	N203D	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Aspm	T	A	1: 139,405,657 (GRCm39)	F1515I	probably damaging	Het
Baz1a	T	C	12: 54,945,267 (GRCm39)	T1363A	probably benign	Het
Cacng3	C	T	7: 122,353,732 (GRCm39)	A72V	probably benign	Het
Casp8ap2	T	C	4: 32,644,505 (GRCm39)	C1193R	possibly damaging	Het
Ccr3	A	G	9: 123,829,334 (GRCm39)	Y223C	probably damaging	Het
Clcn3	C	A	8: 61,387,564 (GRCm39)	L201F	probably damaging	Het
Cltc	A	C	11: 86,591,902 (GRCm39)		probably benign	Het
Cyp19a1	G	T	9: 54,083,930 (GRCm39)	T86K	possibly damaging	Het
Ddx24	A	T	12: 103,385,720 (GRCm39)	F248L	probably damaging	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dync2h1	T	C	9: 7,139,422 (GRCm39)	I1404M	probably benign	Het
Emilin2	A	T	17: 71,580,443 (GRCm39)	V761E	probably damaging	Het
Endou	C	T	15: 97,629,113 (GRCm39)	C13Y	probably benign	Het
Ep400	C	A	5: 110,843,444 (GRCm39)		probably null	Het
Fbxo33	C	A	12: 59,265,998 (GRCm39)	D90Y	probably damaging	Het
Fryl	A	G	5: 73,198,705 (GRCm39)	F2641L	probably benign	Het
Gbp2b	A	G	3: 142,304,006 (GRCm39)	I34V	probably benign	Het
Ghdc	T	C	11: 100,661,051 (GRCm39)	H38R	probably damaging	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gpr63	A	C	4: 25,007,446 (GRCm39)	M57L	probably benign	Het
Gprc5c	A	G	11: 114,755,324 (GRCm39)	S3G	probably damaging	Het
Grk4	A	T	5: 34,909,552 (GRCm39)	M539L	probably benign	Het
Gulo	C	T	14: 66,227,833 (GRCm39)	M366I	probably benign	Het
Heatr5a	T	C	12: 51,924,303 (GRCm39)	H1970R	probably damaging	Het
Hmbox1	T	C	14: 65,062,998 (GRCm39)		probably benign	Het
Ighg2b	T	C	12: 113,267,965 (GRCm39)		probably benign	Het
Il1b	A	T	2: 129,212,226 (GRCm39)	C9S	probably benign	Het
Itpkb	A	T	1: 180,162,440 (GRCm39)		probably benign	Het
Kcnn1	T	A	8: 71,300,822 (GRCm39)	H473L	probably damaging	Het
Kidins220	C	T	12: 25,107,284 (GRCm39)	S1579L	probably damaging	Het
Kif1b	A	T	4: 149,332,378 (GRCm39)		probably benign	Het
Lyg2	A	T	1: 37,950,148 (GRCm39)	M60K	possibly damaging	Het
Mak16	G	T	8: 31,656,161 (GRCm39)	H107Q	probably benign	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mastl	A	G	2: 23,022,855 (GRCm39)	S623P	probably benign	Het
Mccc1	T	C	3: 36,039,195 (GRCm39)	Y46C	probably damaging	Het
Mdn1	T	G	4: 32,685,651 (GRCm39)		probably null	Het
Med25	T	A	7: 44,534,043 (GRCm39)	T31S	probably benign	Het
Mprip	G	A	11: 59,648,846 (GRCm39)	G850D	probably benign	Het
Mrpl10	T	C	11: 96,932,449 (GRCm39)	I8T	probably benign	Het
Msr1	T	C	8: 40,095,668 (GRCm39)		probably benign	Het
Myo3b	T	A	2: 69,936,056 (GRCm39)	I99N	probably damaging	Het
Neurod6	A	T	6: 55,655,640 (GRCm39)	N332K	probably damaging	Het
Npc1l1	T	C	11: 6,168,723 (GRCm39)	Y886C	probably damaging	Het
Nsmaf	T	C	4: 6,398,542 (GRCm39)		probably null	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Or5d47	T	A	2: 87,804,095 (GRCm39)	I305L	probably benign	Het
Plppr2	A	G	9: 21,855,810 (GRCm39)	N261S	probably damaging	Het
Prkar2a	T	A	9: 108,617,584 (GRCm39)		probably benign	Het
Pxk	G	A	14: 8,144,133 (GRCm38)	V294M	probably damaging	Het
Rars1	A	G	11: 35,699,973 (GRCm39)	F608L	possibly damaging	Het
Rasa3	A	G	8: 13,664,633 (GRCm39)	F60L	probably damaging	Het
Rbm47	C	T	5: 66,176,647 (GRCm39)	A490T	possibly damaging	Het
Sardh	T	C	2: 27,079,539 (GRCm39)	I918V	probably benign	Het
Saxo5	A	G	8: 3,529,004 (GRCm39)	K193R	possibly damaging	Het
Sdhc	T	C	1: 170,963,626 (GRCm39)	Y80C	probably damaging	Het
Selp	T	A	1: 163,971,505 (GRCm39)	M653K	probably damaging	Het
Slc6a17	T	C	3: 107,407,803 (GRCm39)	D56G	possibly damaging	Het
Slco1b2	T	C	6: 141,615,195 (GRCm39)	S367P	probably damaging	Het
Spry4	TTGAGGTCC	T	18: 38,723,328 (GRCm39)		probably null	Het
Strip2	T	A	6: 29,925,092 (GRCm39)	Y143*	probably null	Het
Sycp2	T	C	2: 178,035,754 (GRCm39)		probably benign	Het
Tex30	C	A	1: 44,126,118 (GRCm39)	V204L	possibly damaging	Het
Tln2	G	T	9: 67,239,015 (GRCm39)	T1087K	probably benign	Het
Tmeff2	A	C	1: 51,018,546 (GRCm39)	N176T	probably benign	Het
Togaram2	C	G	17: 72,004,918 (GRCm39)	T324R	probably damaging	Het
Trpc3	C	T	3: 36,688,531 (GRCm39)	R836Q	probably benign	Het
Trpm7	A	C	2: 126,673,149 (GRCm39)	L535V	probably benign	Het
Vmn1r213	G	A	13: 23,195,775 (GRCm39)	W119*	probably null	Het
Vps29	T	G	5: 122,500,951 (GRCm39)	V176G	probably damaging	Het
Vsig10l	A	G	7: 43,113,173 (GRCm39)	T144A	possibly damaging	Het
Wdr11	T	C	7: 129,229,746 (GRCm39)	Y844H	probably benign	Het
Zbp1	A	T	2: 173,053,999 (GRCm39)	M174K	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp638	G	A	6: 83,920,040 (GRCm39)	R546H	probably damaging	Het

Other mutations in Zfp820

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Zfp820	APN	17	22,038,292 (GRCm39)	missense	probably damaging	1.00
IGL00954:Zfp820	APN	17	22,038,860 (GRCm39)	missense	probably damaging	1.00
IGL01088:Zfp820	APN	17	22,040,162 (GRCm39)	nonsense	probably null
IGL03067:Zfp820	APN	17	22,038,801 (GRCm39)	missense	possibly damaging	0.68
R0158:Zfp820	UTSW	17	22,038,800 (GRCm39)	missense	probably benign	0.06
R0617:Zfp820	UTSW	17	22,038,685 (GRCm39)	missense	probably damaging	0.99
R0658:Zfp820	UTSW	17	22,037,901 (GRCm39)	missense	probably benign	0.00
R0696:Zfp820	UTSW	17	22,039,041 (GRCm39)	missense	possibly damaging	0.94
R0791:Zfp820	UTSW	17	22,038,509 (GRCm39)	missense	probably benign	0.05
R0792:Zfp820	UTSW	17	22,038,509 (GRCm39)	missense	probably benign	0.05
R0882:Zfp820	UTSW	17	22,042,817 (GRCm39)	splice site	probably benign
R1421:Zfp820	UTSW	17	22,038,861 (GRCm39)	missense	possibly damaging	0.85
R1573:Zfp820	UTSW	17	22,037,737 (GRCm39)	missense	probably benign	0.00
R1928:Zfp820	UTSW	17	22,038,316 (GRCm39)	missense	probably benign	0.00
R3889:Zfp820	UTSW	17	22,037,877 (GRCm39)	missense	probably benign	0.25
R4782:Zfp820	UTSW	17	22,037,966 (GRCm39)	missense	probably benign	0.00
R4799:Zfp820	UTSW	17	22,037,966 (GRCm39)	missense	probably benign	0.00
R4913:Zfp820	UTSW	17	22,038,200 (GRCm39)	missense	probably benign	0.42
R5100:Zfp820	UTSW	17	22,040,054 (GRCm39)	missense	possibly damaging	0.64
R5766:Zfp820	UTSW	17	22,038,983 (GRCm39)	missense	probably damaging	0.96
R5772:Zfp820	UTSW	17	22,037,702 (GRCm39)	missense	probably damaging	1.00
R6516:Zfp820	UTSW	17	22,038,354 (GRCm39)	missense	probably damaging	1.00
R6577:Zfp820	UTSW	17	22,038,384 (GRCm39)	missense	probably benign	0.00
R7094:Zfp820	UTSW	17	22,038,246 (GRCm39)	missense	probably benign	0.41
R7570:Zfp820	UTSW	17	22,037,994 (GRCm39)	missense	probably benign	0.14
R7794:Zfp820	UTSW	17	22,039,109 (GRCm39)	missense	probably damaging	0.98
R8545:Zfp820	UTSW	17	22,038,438 (GRCm39)	missense	probably damaging	1.00
R8692:Zfp820	UTSW	17	22,037,876 (GRCm39)	missense	probably benign	0.43
R9072:Zfp820	UTSW	17	22,039,031 (GRCm39)	missense	possibly damaging	0.91
R9073:Zfp820	UTSW	17	22,039,031 (GRCm39)	missense	possibly damaging	0.91
R9325:Zfp820	UTSW	17	22,038,380 (GRCm39)	missense	probably damaging	1.00
R9421:Zfp820	UTSW	17	22,038,336 (GRCm39)	missense	probably benign	0.20
R9480:Zfp820	UTSW	17	22,037,994 (GRCm39)	missense	possibly damaging	0.85
R9592:Zfp820	UTSW	17	22,038,577 (GRCm39)	missense	probably benign	0.01
R9600:Zfp820	UTSW	17	22,038,861 (GRCm39)	missense	probably benign	0.00
R9632:Zfp820	UTSW	17	22,038,107 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAGTAGCACAAGGCCGTG -3'
(R):5'- AGCAGTGTTTTACAGCAGGTG -3'

Sequencing Primer
(F):5'- ACAAGGCCGTGCTTGTC -3'
(R):5'- GTTTTTGCCTGGTACCTACTAAG -3'

Genotyping

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.

PCR Primers

R48070084_PCR_F: 5’- ATAGTAGCACAAGGCCGTG-3’

R48070084_PCR_R: 5’- AGCAGTGTTTTACAGCAGGTG-3’

Sequencing Primers

R48070084_SEQ_F: 5’- ACAAGGCCGTGCTTGTC-3’ 

R48070084_SEQ_R: 5’- GTTTTTGCCTGGTACCTACTAAG-3’ 

PCR program

1) 94°C 2:00

2) 94°C 0:30

3) 55°C 0:30

4) 72°C 1:00

5) repeat steps (2-4) 40X

6) 72°C 10:00

7) 4°C hold

The following sequence of 459 nucleotides is amplified (Chr17: 21823670-21824128; NC_000083):

atagtagcac aaggccgtgc ttgtcttatt tgaagtgaaa gatctaaagg cttaattttg

aacaaagata aattgcagaa accaaacacg tttggtaaca ttaccagagg tagagaacta

aaatctctac ctctaaaaat agaaattttt aagaaatgta gacaagacac tgacctgagg

aacatttagg agagaagcat tcattcttct tgttactctt acctgaaaaa ttaaaagcaa

aaataaattc aagtctgtta tgaacaatgc taaaccatat aaaaacatac aaaaaggaaa

atgataccag aaaacttgcc aacattccta cagaaaggag agcatggaat gatatattta

atgtggtaag gaaaataact acattttgtg gcctttttct aaccttagta ggtaccaggc

aaaaacagag tacacacaca cctgctgtaa aacactgct

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = A>T).

Posted On

2016-02-04