Mutagenetix > Incidental Mutation

Incidental Mutation 'R5305:Zfp574'

404503

Institutional Source

Beutler Lab

Gene Symbol

Zfp574

Ensembl Gene

ENSMUSG00000045252

Gene Name

zinc finger protein 574

Synonyms

A630056B21Rik

MMRRC Submission

042888-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24775099-24782917 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24780515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 512 (H512Q)

Ref Sequence

ENSEMBL: ENSMUSP00000136547 (fasta)

Gene Model

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

AlphaFold

Q8BY46

Predicted Effect

probably damaging
Transcript: ENSMUST00000053410
AA Change: H512Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000057817
Gene: ENSMUSG00000045252
AA Change: H512Q

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

SMART Domains

Protein: ENSMUSP00000136547
Gene: ENSMUSG00000045252
AA Change: H512Q

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

noncoding transcript
Transcript: ENSMUST00000206530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206733

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	A	15: 81,943,420 (GRCm39)	V11M	possibly damaging	Het
Acot8	A	G	2: 164,637,685 (GRCm39)	V179A	probably benign	Het
Actb	A	G	5: 142,889,985 (GRCm39)	I194T	probably benign	Het
Ap1g2	A	G	14: 55,336,533 (GRCm39)	V787A	probably benign	Het
Areg	G	T	5: 91,292,308 (GRCm39)	A203S	probably damaging	Het
Asb13	A	T	13: 3,693,479 (GRCm39)	D79V	probably damaging	Het
Atad2b	C	T	12: 5,015,855 (GRCm39)	T527I	probably damaging	Het
Auts2	T	G	5: 131,472,632 (GRCm39)		probably benign	Het
Ceacam3	T	A	7: 16,885,501 (GRCm39)	S35T	probably damaging	Het
Crebzf	T	C	7: 90,093,342 (GRCm39)		probably benign	Het
Cttnbp2	G	T	6: 18,381,097 (GRCm39)	N1366K	probably benign	Het
Cubn	C	A	2: 13,393,750 (GRCm39)	C1417F	probably damaging	Het
Dot1l	C	T	10: 80,626,627 (GRCm39)	P162S	probably benign	Het
Epc1	G	A	18: 6,490,690 (GRCm39)		probably benign	Het
Eps8l1	A	G	7: 4,480,895 (GRCm39)	S613G	possibly damaging	Het
Erich6	T	G	3: 58,532,537 (GRCm39)	I357L	probably benign	Het
Foxj3	T	A	4: 119,477,155 (GRCm39)	S288T	possibly damaging	Het
Gls2	T	G	10: 128,040,578 (GRCm39)	Y326*	probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm7535	T	C	17: 18,132,061 (GRCm39)		probably benign	Het
Gxylt2	T	G	6: 100,764,179 (GRCm39)	L288R	probably damaging	Het
Kdm4a	T	C	4: 118,017,698 (GRCm39)	Y456C	probably damaging	Het
Mgat4c	T	A	10: 102,225,140 (GRCm39)	F451L	possibly damaging	Het
Mrpl20	G	A	4: 155,888,162 (GRCm39)	R17H	probably damaging	Het
Mtf2	A	G	5: 108,252,365 (GRCm39)	T465A	possibly damaging	Het
Mycbp2	A	C	14: 103,583,757 (GRCm39)	L66R	probably benign	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Nr2e1	A	T	10: 42,447,483 (GRCm39)	Y176*	probably null	Het
Obscn	T	C	11: 58,903,541 (GRCm39)	T7628A	possibly damaging	Het
Or7a37	A	T	10: 78,806,390 (GRCm39)	K302N	possibly damaging	Het
Pitx2	T	G	3: 129,009,489 (GRCm39)	V129G	probably damaging	Het
Polr2e	A	G	10: 79,873,897 (GRCm39)		probably benign	Het
Ppard	A	G	17: 28,517,832 (GRCm39)	D300G	probably damaging	Het
Ppp1r27	A	G	11: 120,441,743 (GRCm39)	V46A	probably benign	Het
Prex2	T	A	1: 11,177,902 (GRCm39)	V332E	probably damaging	Het
Prss30	T	G	17: 24,191,750 (GRCm39)	Y257S	probably benign	Het
Ptprd	T	C	4: 75,900,863 (GRCm39)	E1082G	probably damaging	Het
Rab3c	T	A	13: 110,317,611 (GRCm39)	R89S	probably damaging	Het
Rimbp2	A	G	5: 128,874,445 (GRCm39)	V389A	possibly damaging	Het
Rims1	T	A	1: 22,635,623 (GRCm39)	R119S	probably damaging	Het
Sema3b	T	C	9: 107,480,536 (GRCm39)	H137R	probably null	Het
Sf3b4	G	C	3: 96,080,958 (GRCm39)	A89P	probably damaging	Het
Sgta	T	A	10: 80,882,081 (GRCm39)	Q298L	probably damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Sry	T	A	Y: 2,662,982 (GRCm39)	D226V	unknown	Het
Sv2a	A	G	3: 96,092,774 (GRCm39)	E158G	possibly damaging	Het
Sytl2	A	G	7: 90,031,071 (GRCm39)		probably benign	Het
Thbs3	T	A	3: 89,125,283 (GRCm39)		probably benign	Het
Top3a	A	T	11: 60,653,365 (GRCm39)	N56K	possibly damaging	Het
Tyk2	T	C	9: 21,020,677 (GRCm39)	D918G	probably damaging	Het
Uqcrh	A	G	4: 115,924,481 (GRCm39)		probably benign	Het
Vmn1r61	A	G	7: 5,613,814 (GRCm39)	S167P	probably damaging	Het
Wdr25	C	A	12: 108,992,366 (GRCm39)	H74N	probably damaging	Het
Zfp458	T	C	13: 67,404,382 (GRCm39)	N686D	probably benign	Het
Zfp976	A	T	7: 42,262,902 (GRCm39)	Y312N	probably benign	Het
Zscan4c	G	A	7: 10,743,462 (GRCm39)	V354I	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
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
R8871:Zfp574	UTSW	7	24,780,562 (GRCm39)	missense	probably damaging	0.99
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'- TATGTGAGGAGAGTTCAGCCG -3'
(R):5'- ATCACAAGCTGGTGGACCTC -3'

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

Posted On

2016-07-22