Mutagenetix > Incidental Mutation

Incidental Mutation 'R9223:Zfp804b'

699587

Institutional Source

Beutler Lab

Gene Symbol

Zfp804b

Ensembl Gene

ENSMUSG00000092094

Gene Name

zinc finger protein 804B

Synonyms

LOC207618

MMRRC Submission

068959-MU

Accession Numbers

Essential gene?

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

Stock #

R9223 (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 A at 6821496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 522 (E522D)

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: E486D

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000130571
Gene: ENSMUSG00000092094
AA Change: E486D

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: E522D

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000143568
Gene: ENSMUSG00000092094
AA Change: E522D

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	C	A	9: 101,820,193 (GRCm39)	D204E	possibly damaging	Het
Aldh3a2	A	G	11: 61,156,037 (GRCm39)	S80P	probably benign	Het
Bcl6b	A	T	11: 70,117,400 (GRCm39)	Y407*	probably null	Het
Ccn2	T	C	10: 24,471,856 (GRCm39)	V49A	probably benign	Het
Cel	TTA	TTATA	2: 28,449,441 (GRCm39)		probably null	Het
Cerkl	A	T	2: 79,171,674 (GRCm39)	C395S	probably damaging	Het
Chst5	C	A	8: 112,617,492 (GRCm39)	V43L	probably benign	Het
Clip1	A	T	5: 123,784,337 (GRCm39)	F271I	probably damaging	Het
Clspn	A	G	4: 126,484,411 (GRCm39)	T1190A	possibly damaging	Het
Col20a1	A	T	2: 180,648,528 (GRCm39)	E938D	probably damaging	Het
Dmrta2	G	A	4: 109,839,779 (GRCm39)	V509M	probably damaging	Het
Dnah7b	T	A	1: 46,361,420 (GRCm39)	M3440K	probably benign	Het
Erlin1	A	G	19: 44,029,184 (GRCm39)		probably null	Het
Fam24b	A	G	7: 130,927,869 (GRCm39)	S107P	probably benign	Het
Fancm	T	A	12: 65,149,358 (GRCm39)	I708N	probably benign	Het
Fbxo11	A	T	17: 88,323,124 (GRCm39)	D12E		Het
Fbxw13	T	C	9: 109,024,116 (GRCm39)	D39G	probably damaging	Het
Gabrb3	T	G	7: 57,466,152 (GRCm39)	L322R	probably damaging	Het
Gm5239	A	T	18: 35,669,672 (GRCm39)	I13F	possibly damaging	Het
Heatr1	A	G	13: 12,419,802 (GRCm39)	Y375C	probably benign	Het
Helq	A	T	5: 100,946,303 (GRCm39)	S13T	possibly damaging	Het
Helz	A	G	11: 107,509,918 (GRCm39)	T514A	probably benign	Het
Hook3	A	G	8: 26,522,552 (GRCm39)	V32A		Het
Htra4	A	G	8: 25,527,048 (GRCm39)	I249T	possibly damaging	Het
Htt	G	T	5: 35,062,692 (GRCm39)	V2809L	probably benign	Het
Ifi203	T	A	1: 173,765,437 (GRCm39)	I46F	probably benign	Het
Kcna2	A	T	3: 107,012,306 (GRCm39)	I296F	possibly damaging	Het
Kndc1	A	G	7: 139,501,357 (GRCm39)	E882G	possibly damaging	Het
Krtap16-1	A	T	11: 99,876,071 (GRCm39)	D444E	probably benign	Het
Lrrtm3	ATTTT	ATTTTT	10: 63,925,035 (GRCm39)		probably null	Het
Mdga2	C	T	12: 66,615,634 (GRCm39)	D658N	possibly damaging	Het
Mkrn1	T	C	6: 39,378,183 (GRCm39)	K316R	possibly damaging	Het
Mmd2	C	T	5: 142,553,666 (GRCm39)	C165Y	probably damaging	Het
Mpdz	A	G	4: 81,202,867 (GRCm39)	F1843L	probably damaging	Het
Mrc2	G	A	11: 105,220,093 (GRCm39)	R338Q	probably damaging	Het
Naip5	C	T	13: 100,364,184 (GRCm39)	R372H	probably benign	Het
Nav2	C	A	7: 49,202,599 (GRCm39)	S1461Y	probably damaging	Het
Nol8	T	A	13: 49,814,738 (GRCm39)	V282D	possibly damaging	Het
Nup98	C	A	7: 101,834,167 (GRCm39)	G265V	possibly damaging	Het
Or1ak2	T	C	2: 36,827,911 (GRCm39)	F260S	probably damaging	Het
Or2d3b	A	G	7: 106,513,980 (GRCm39)	T192A	possibly damaging	Het
Or2h15	C	T	17: 38,442,012 (GRCm39)	E24K	possibly damaging	Het
Or4f58	T	A	2: 111,851,517 (GRCm39)	K227N	possibly damaging	Het
Or4f62	T	A	2: 111,986,473 (GRCm39)	M59K	possibly damaging	Het
Or8k18	G	T	2: 86,085,544 (GRCm39)	F164L	possibly damaging	Het
Otogl	T	A	10: 107,690,205 (GRCm39)	E888D	probably damaging	Het
Pcdhgc4	A	G	18: 37,948,685 (GRCm39)	I34V	possibly damaging	Het
Ppp1r12b	T	C	1: 134,807,376 (GRCm39)	R417G	probably benign	Het
Rtn4	A	G	11: 29,656,778 (GRCm39)	S311G	probably benign	Het
Serinc3	A	G	2: 163,478,812 (GRCm39)	V105A	probably benign	Het
Serpina3f	A	G	12: 104,183,444 (GRCm39)	D102G	possibly damaging	Het
Sik3	A	G	9: 46,066,772 (GRCm39)	I184V	probably damaging	Het
Spopfm2	A	C	3: 94,082,950 (GRCm39)	L287R	probably damaging	Het
Tex35	A	T	1: 156,935,436 (GRCm39)	C21S	probably benign	Het
Tfap2b	T	C	1: 19,282,649 (GRCm39)		probably null	Het
Thbs4	C	T	13: 92,897,998 (GRCm39)	C607Y	probably damaging	Het
Tmem144	A	T	3: 79,734,964 (GRCm39)	N151K	probably benign	Het
Tomm70a	T	A	16: 56,963,166 (GRCm39)	M395K	probably benign	Het
Trim43b	A	C	9: 88,967,663 (GRCm39)	H324Q	probably benign	Het
Vmn2r116	A	T	17: 23,620,141 (GRCm39)	Y625F	probably damaging	Het
Yipf3	A	T	17: 46,559,798 (GRCm39)	N38I	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	6,821,994 (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
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'- AGCAGGCACTTCAGGACTTTTC -3'
(R):5'- TCCGTGTACAGAGCAAGGATG -3'

Sequencing Primer
(F):5'- GGACTTTTCATTTCCAAGTCTCGTAG -3'
(R):5'- TCTACAGTGGCCTACAGAACTTC -3'

Posted On

2022-02-07