Mutagenetix > Incidental Mutation

Incidental Mutation 'R7721:Zfp804b'

595216

Institutional Source

Beutler Lab

Gene Symbol

Zfp804b

Ensembl Gene

ENSMUSG00000092094

Gene Name

zinc finger protein 804B

Synonyms

LOC207618

MMRRC Submission

045777-MU

Accession Numbers

Essential gene?

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

Stock #

R7721 (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 6821263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 600 (E600G)

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: E564G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000130571
Gene: ENSMUSG00000092094
AA Change: E564G

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: E600G

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143568
Gene: ENSMUSG00000092094
AA Change: E600G

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: 99.6%
20x: 98.8%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	C	5: 121,784,929 (GRCm39)		probably null	Het
Adamtsl3	T	G	7: 82,255,728 (GRCm39)	M1580R	possibly damaging	Het
Alg9	T	C	9: 50,687,942 (GRCm39)	I78T	probably damaging	Het
Ankmy2	G	T	12: 36,207,143 (GRCm39)		probably benign	Het
Ankrd11	G	T	8: 123,621,498 (GRCm39)	L785M	probably damaging	Het
Atrnl1	T	A	19: 57,684,763 (GRCm39)	D796E	probably benign	Het
C1s2	A	G	6: 124,607,017 (GRCm39)	V277A	possibly damaging	Het
Ccdc121rt3	A	G	5: 112,503,383 (GRCm39)	I107T	probably benign	Het
Cldn15	A	G	5: 136,997,015 (GRCm39)	M19V	probably benign	Het
Cldn23	T	G	8: 36,293,417 (GRCm39)	S24R	possibly damaging	Het
Cnr1	T	A	4: 33,944,416 (GRCm39)	I268N	probably damaging	Het
Csf2ra	A	T	19: 61,215,024 (GRCm39)	W147R	probably damaging	Het
Ctsb	G	T	14: 63,370,765 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,088,874 (GRCm39)	M34T	probably benign	Het
Dmtf1	T	C	5: 9,176,564 (GRCm39)	I463V	probably damaging	Het
Dnah7a	T	A	1: 53,670,842 (GRCm39)	D470V	probably benign	Het
Dtx4	A	G	19: 12,459,500 (GRCm39)	S435P	probably benign	Het
Ear2	T	A	14: 44,340,495 (GRCm39)	M51K	probably damaging	Het
Efcab3	T	A	11: 104,615,366 (GRCm39)	L711*	probably null	Het
Elmo1	T	A	13: 20,464,973 (GRCm39)		probably null	Het
Faf1	T	A	4: 109,593,794 (GRCm39)	I124N	probably damaging	Het
Gkap1	A	C	13: 58,384,799 (GRCm39)		probably null	Het
Glipr2	T	C	4: 43,957,770 (GRCm39)	S4P	probably benign	Het
Gm38119	A	T	3: 92,645,337 (GRCm39)	C86S	unknown	Het
Gpr171	T	G	3: 59,005,320 (GRCm39)	I152L	probably benign	Het
Hes7	T	A	11: 69,012,352 (GRCm39)	T9S	unknown	Het
Homer3	T	C	8: 70,743,662 (GRCm39)	V180A	probably benign	Het
Irx1	T	A	13: 72,108,176 (GRCm39)	M169L	probably benign	Het
Kap	A	G	6: 133,828,690 (GRCm39)		probably null	Het
Mgat5b	A	G	11: 116,857,627 (GRCm39)	M2V		Het
Mob4	C	T	1: 55,187,479 (GRCm39)	Q76*	probably null	Het
Or10w3	T	A	19: 13,704,207 (GRCm39)	I194N	possibly damaging	Het
Or8b47	A	T	9: 38,435,013 (GRCm39)		probably null	Het
Or8g26	A	G	9: 39,096,056 (GRCm39)	D191G	probably benign	Het
Pate14	C	T	9: 36,549,159 (GRCm39)	G34R	possibly damaging	Het
Pcdha9	A	T	18: 37,132,689 (GRCm39)	Q586L	probably benign	Het
Pgk2	T	A	17: 40,518,409 (GRCm39)	I340F	probably benign	Het
Prex1	G	A	2: 166,419,810 (GRCm39)	Q1289*	probably null	Het
Prr22	A	G	17: 57,078,819 (GRCm39)	D324G	possibly damaging	Het
Rab2b	A	T	14: 52,501,217 (GRCm39)	S201T	probably benign	Het
Rdh1	T	A	10: 127,596,121 (GRCm39)		probably null	Het
Rhbdl1	G	T	17: 26,055,123 (GRCm39)	N82K	probably benign	Het
Rspo1	C	A	4: 124,885,210 (GRCm39)	Q29K	possibly damaging	Het
Rtp3	A	T	9: 110,814,948 (GRCm39)	Y472*	probably null	Het
Senp5	T	A	16: 31,809,252 (GRCm39)	M1L	unknown	Het
Slfn4	A	T	11: 83,078,389 (GRCm39)		probably null	Het
Stab1	A	G	14: 30,863,413 (GRCm39)	V2091A	possibly damaging	Het
Stk32c	A	G	7: 138,768,069 (GRCm39)	S71P	possibly damaging	Het
Tpr	A	G	1: 150,320,180 (GRCm39)	T2243A	probably benign	Het
Tubgcp6	A	T	15: 88,985,604 (GRCm39)	N1544K	probably damaging	Het
Uqcc1	T	C	2: 155,700,066 (GRCm39)	N202S	probably benign	Het
Vmn2r18	C	T	5: 151,510,158 (GRCm39)	E72K	possibly damaging	Het
Zfp654	C	A	16: 64,606,570 (GRCm39)	C3F	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
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'- CTGTGATCCCCTGATGTGTAAGG -3'
(R):5'- CTCTGAAACCAAAGATGAGTGTAGC -3'

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

Posted On

2019-11-12