Mutagenetix > Incidental Mutation

Incidental Mutation 'R8871:Zfp574'

676283

Institutional Source

Beutler Lab

Gene Symbol

Zfp574

Ensembl Gene

ENSMUSG00000045252

Gene Name

zinc finger protein 574

Synonyms

A630056B21Rik

MMRRC Submission

068685-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8871 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24775099-24782917 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24780562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 528 (C528F)

Ref Sequence

ENSEMBL: ENSMUSP00000057817 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053410] [ENSMUST00000179556]

AlphaFold

Q8BY46

Predicted Effect

probably damaging
Transcript: ENSMUST00000053410
AA Change: C528F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057817
Gene: ENSMUSG00000045252
AA Change: C528F

Domain	Start	End	E-Value	Type
ZnF_C2H2	16	38	4.98e-1	SMART
ZnF_C2H2	76	98	4.05e-1	SMART
low complexity region	107	118	N/A	INTRINSIC
ZnF_C2H2	126	148	1.99e0	SMART
low complexity region	156	173	N/A	INTRINSIC
ZnF_C2H2	213	235	4.4e-2	SMART
low complexity region	237	254	N/A	INTRINSIC
low complexity region	289	298	N/A	INTRINSIC
ZnF_C2H2	312	334	7.15e-2	SMART
ZnF_C2H2	339	361	1.04e-3	SMART
ZnF_C2H2	367	389	4.12e0	SMART
ZnF_C2H2	395	416	2.12e1	SMART
low complexity region	418	434	N/A	INTRINSIC
ZnF_C2H2	469	492	1.03e-2	SMART
ZnF_C2H2	498	520	2.75e-3	SMART
ZnF_C2H2	526	548	3.39e-3	SMART
ZnF_C2H2	554	576	2.75e-3	SMART
ZnF_C2H2	582	604	2.86e-1	SMART
ZnF_C2H2	610	633	1.25e-1	SMART
ZnF_C2H2	639	659	4.5e1	SMART
low complexity region	660	666	N/A	INTRINSIC
ZnF_C2H2	670	692	2.29e0	SMART
ZnF_C2H2	742	764	2.91e-2	SMART
ZnF_C2H2	770	792	5.59e-4	SMART
ZnF_C2H2	798	820	3.34e-2	SMART
ZnF_C2H2	826	848	4.24e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000179556
AA Change: C528F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136547
Gene: ENSMUSG00000045252
AA Change: C528F

Domain	Start	End	E-Value	Type
ZnF_C2H2	16	38	4.98e-1	SMART
ZnF_C2H2	76	98	4.05e-1	SMART
low complexity region	107	118	N/A	INTRINSIC
ZnF_C2H2	126	148	1.99e0	SMART
low complexity region	156	173	N/A	INTRINSIC
ZnF_C2H2	213	235	4.4e-2	SMART
low complexity region	237	254	N/A	INTRINSIC
low complexity region	289	298	N/A	INTRINSIC
ZnF_C2H2	312	334	7.15e-2	SMART
ZnF_C2H2	339	361	1.04e-3	SMART
ZnF_C2H2	367	389	4.12e0	SMART
ZnF_C2H2	395	416	2.12e1	SMART
low complexity region	418	434	N/A	INTRINSIC
ZnF_C2H2	469	492	1.03e-2	SMART
ZnF_C2H2	498	520	2.75e-3	SMART
ZnF_C2H2	526	548	3.39e-3	SMART
ZnF_C2H2	554	576	2.75e-3	SMART
ZnF_C2H2	582	604	2.86e-1	SMART
ZnF_C2H2	610	633	1.25e-1	SMART
ZnF_C2H2	639	659	4.5e1	SMART
low complexity region	660	666	N/A	INTRINSIC
ZnF_C2H2	670	692	2.29e0	SMART
ZnF_C2H2	742	764	2.91e-2	SMART
ZnF_C2H2	770	792	5.59e-4	SMART
ZnF_C2H2	798	820	3.34e-2	SMART
ZnF_C2H2	826	848	4.24e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,248,071 (GRCm39)	M2606R	probably benign	Het
Abcg5	C	T	17: 84,990,295 (GRCm39)	E3K	probably benign	Het
Adam20	A	C	8: 41,248,601 (GRCm39)	H237P	probably damaging	Het
Alg3	T	C	16: 20,424,684 (GRCm39)	Y361C	probably damaging	Het
Ano8	A	T	8: 71,931,944 (GRCm39)	Y752N	probably benign	Het
AW551984	A	T	9: 39,500,998 (GRCm39)	L759*	probably null	Het
Bdp1	A	C	13: 100,186,175 (GRCm39)	V1759G	probably damaging	Het
Bicdl2	C	A	17: 23,885,777 (GRCm39)	Q273K	probably damaging	Het
Cc2d2a	A	T	5: 43,857,285 (GRCm39)	T491S	possibly damaging	Het
Cdkl2	A	G	5: 92,164,989 (GRCm39)	S545P	possibly damaging	Het
Ceacam5	T	A	7: 17,494,827 (GRCm39)	I945K	probably benign	Het
Celf1	A	G	2: 90,840,840 (GRCm39)	Y369C	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Col14a1	T	G	15: 55,245,958 (GRCm39)	D487E	unknown	Het
Crybg3	T	C	16: 59,378,519 (GRCm39)	N912D	probably benign	Het
Cstl1	A	G	2: 148,596,554 (GRCm39)	T86A	probably damaging	Het
Dixdc1	C	T	9: 50,595,096 (GRCm39)	V482M	possibly damaging	Het
Dmbt1	T	C	7: 130,718,597 (GRCm39)	Y1773H	unknown	Het
Dock4	T	C	12: 40,795,730 (GRCm39)	I849T	probably benign	Het
Fbln2	A	T	6: 91,233,215 (GRCm39)		probably null	Het
Fbxo16	A	G	14: 65,531,348 (GRCm39)	E84G	probably damaging	Het
Fras1	T	A	5: 96,855,257 (GRCm39)	V1922D	probably benign	Het
G6pc3	A	G	11: 102,082,896 (GRCm39)	H85R	probably damaging	Het
Galc	A	T	12: 98,212,543 (GRCm39)	N197K	probably damaging	Het
Galnt12	T	G	4: 47,108,582 (GRCm39)		probably null	Het
Gm10220	T	A	5: 26,322,863 (GRCm39)	Q183L	probably benign	Het
Gxylt2	A	G	6: 100,760,109 (GRCm39)	T215A	probably damaging	Het
Hnrnpf	T	G	6: 117,900,811 (GRCm39)	S32A	probably benign	Het
Hspa1l	T	C	17: 35,197,799 (GRCm39)	Y613H	probably benign	Het
Il1r2	T	A	1: 40,144,424 (GRCm39)	V37D	probably benign	Het
Itga11	C	A	9: 62,668,823 (GRCm39)	Y693*	probably null	Het
Itgax	T	A	7: 127,735,223 (GRCm39)	F459L	probably damaging	Het
Jph1	A	G	1: 17,067,719 (GRCm39)	V656A	possibly damaging	Het
Kcnn4	A	T	7: 24,083,500 (GRCm39)	I394F	possibly damaging	Het
Kdelr3	T	A	15: 79,410,044 (GRCm39)	Y176*	probably null	Het
Kif13a	T	C	13: 46,984,279 (GRCm39)	D162G	probably damaging	Het
Klhdc8b	G	A	9: 108,326,871 (GRCm39)	P164S	probably damaging	Het
Lmbrd1	A	T	1: 24,783,435 (GRCm39)	Q357L	probably damaging	Het
Lrrc37a	T	C	11: 103,347,375 (GRCm39)	M3107V	unknown	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT	4: 87,759,552 (GRCm39)		probably benign	Het
Muc16	C	A	9: 18,567,344 (GRCm39)	G1725V	unknown	Het
Myo5c	T	C	9: 75,185,585 (GRCm39)	S983P	probably benign	Het
Naip1	G	A	13: 100,580,146 (GRCm39)	H217Y	probably damaging	Het
Nlrc3	T	C	16: 3,781,968 (GRCm39)		probably benign	Het
Nrl	A	T	14: 55,758,184 (GRCm39)	L181Q	probably damaging	Het
Olig1	T	C	16: 91,067,545 (GRCm39)	*261R	probably null	Het
Or12k5	T	C	2: 36,895,060 (GRCm39)	T189A	probably benign	Het
Or2l13b	T	C	16: 19,349,536 (GRCm39)	I45V		Het
Or8j3c	T	C	2: 86,253,697 (GRCm39)	M108V	probably benign	Het
Oscp1	T	A	4: 125,952,535 (GRCm39)	L21Q	probably damaging	Het
Oxct1	G	A	15: 4,064,763 (GRCm39)	V34I	probably benign	Het
Pdzph1	A	G	17: 59,195,033 (GRCm39)	L1074P	probably damaging	Het
Pkd1l1	T	A	11: 8,900,503 (GRCm39)	S463C		Het
Pnpla3	G	A	15: 84,063,509 (GRCm39)	E296K	probably benign	Het
Prss35	T	G	9: 86,637,244 (GRCm39)	L5V	possibly damaging	Het
Rbck1	T	C	2: 152,164,096 (GRCm39)	E336G	possibly damaging	Het
Rgl2	G	A	17: 34,153,974 (GRCm39)	R460Q	probably damaging	Het
Rmi1	T	A	13: 58,557,156 (GRCm39)	N468K	probably benign	Het
Rptor	T	A	11: 119,494,751 (GRCm39)	I39N	probably benign	Het
S1pr1	A	G	3: 115,505,628 (GRCm39)	F322S	probably damaging	Het
Scgb1b10	T	A	7: 31,800,544 (GRCm39)	Y44*	probably null	Het
Setx	A	G	2: 29,038,114 (GRCm39)	D1533G	probably benign	Het
Sf3b1	A	G	1: 55,029,508 (GRCm39)	Y1165H	probably damaging	Het
Sgcz	A	T	8: 38,420,103 (GRCm39)	Y50N	probably damaging	Het
Sh3gl2	C	A	4: 85,305,817 (GRCm39)	P227Q		Het
She	T	C	3: 89,759,795 (GRCm39)		probably null	Het
Slc9a4	T	C	1: 40,642,015 (GRCm39)	I328T	probably damaging	Het
Sort1	G	A	3: 108,262,887 (GRCm39)		probably null	Het
Srebf1	A	G	11: 60,091,595 (GRCm39)	S977P	probably benign	Het
Srsf9	T	C	5: 115,468,712 (GRCm39)	V116A	probably damaging	Het
Tex15	G	A	8: 34,066,992 (GRCm39)	V2141I	possibly damaging	Het
Tmprss13	A	T	9: 45,249,704 (GRCm39)	H347L	probably damaging	Het
Trpv4	A	G	5: 114,768,511 (GRCm39)	F519S	probably benign	Het
Trrap	A	G	5: 144,758,649 (GRCm39)	T2159A	probably benign	Het
Vmn1r36	A	T	6: 66,693,442 (GRCm39)	Y144*	probably null	Het
Vmn2r10	A	G	5: 109,146,899 (GRCm39)	I463T	possibly damaging	Het
Vps13a	T	A	19: 16,641,186 (GRCm39)	N2312I	probably damaging	Het
Wdr81	A	T	11: 75,343,919 (GRCm39)	Y449*	probably null	Het
Zfhx3	A	G	8: 109,676,867 (GRCm39)	D2639G	possibly damaging	Het
Zfp120	A	G	2: 149,959,995 (GRCm39)	V131A	probably benign	Het
Zfp947	A	T	17: 22,364,695 (GRCm39)	N326K	probably benign	Het

Other mutations in Zfp574

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Zfp574	APN	7	24,781,015 (GRCm39)	missense	probably benign	0.00
IGL02370:Zfp574	APN	7	24,779,014 (GRCm39)	missense	possibly damaging	0.95
IGL02706:Zfp574	APN	7	24,780,790 (GRCm39)	missense	probably damaging	0.98
IGL03119:Zfp574	APN	7	24,779,898 (GRCm39)	missense	probably benign
glue	UTSW	7	24,780,515 (GRCm39)	missense
BB004:Zfp574	UTSW	7	24,779,572 (GRCm39)	missense	probably benign
BB014:Zfp574	UTSW	7	24,779,572 (GRCm39)	missense	probably benign
R0866:Zfp574	UTSW	7	24,779,323 (GRCm39)	missense	probably damaging	1.00
R2429:Zfp574	UTSW	7	24,779,482 (GRCm39)	nonsense	probably null
R3123:Zfp574	UTSW	7	24,781,026 (GRCm39)	missense	possibly damaging	0.88
R3124:Zfp574	UTSW	7	24,781,026 (GRCm39)	missense	possibly damaging	0.88
R3125:Zfp574	UTSW	7	24,781,026 (GRCm39)	missense	possibly damaging	0.88
R4581:Zfp574	UTSW	7	24,780,738 (GRCm39)	missense	probably damaging	0.98
R4591:Zfp574	UTSW	7	24,778,969 (GRCm39)	start gained	probably benign
R4915:Zfp574	UTSW	7	24,780,151 (GRCm39)	missense	probably damaging	0.98
R4953:Zfp574	UTSW	7	24,780,388 (GRCm39)	missense	probably damaging	0.97
R5305:Zfp574	UTSW	7	24,780,515 (GRCm39)	missense
R5541:Zfp574	UTSW	7	24,781,375 (GRCm39)	missense	probably damaging	0.99
R5934:Zfp574	UTSW	7	24,779,757 (GRCm39)	missense	probably benign
R6088:Zfp574	UTSW	7	24,779,764 (GRCm39)	missense	probably benign	0.01
R7061:Zfp574	UTSW	7	24,779,622 (GRCm39)	missense	possibly damaging	0.95
R7563:Zfp574	UTSW	7	24,780,777 (GRCm39)	missense	possibly damaging	0.94
R7615:Zfp574	UTSW	7	24,780,001 (GRCm39)	missense	possibly damaging	0.95
R7927:Zfp574	UTSW	7	24,779,572 (GRCm39)	missense	probably benign
R8017:Zfp574	UTSW	7	24,780,095 (GRCm39)	nonsense	probably null
R8019:Zfp574	UTSW	7	24,780,095 (GRCm39)	nonsense	probably null
R8788:Zfp574	UTSW	7	24,779,816 (GRCm39)	missense	unknown
R8915:Zfp574	UTSW	7	24,780,769 (GRCm39)	missense	probably damaging	1.00
R9484:Zfp574	UTSW	7	24,781,404 (GRCm39)	missense	possibly damaging	0.77
R9533:Zfp574	UTSW	7	24,780,379 (GRCm39)	missense	probably damaging	1.00
R9606:Zfp574	UTSW	7	24,780,640 (GRCm39)	missense	probably damaging	1.00
R9623:Zfp574	UTSW	7	24,780,515 (GRCm39)	missense
X0026:Zfp574	UTSW	7	24,780,477 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGTGAGGAGAGTTCAGCCG -3'
(R):5'- ATCACAAGCTGGTGGACCTC -3'

Sequencing Primer
(F):5'- AGAGTTCAGCCGAGCCTG -3'
(R):5'- ACGGCACTTGTAGGGGTACTC -3'

Posted On

2021-07-15