Mutagenetix > Incidental Mutation

Incidental Mutation 'R3123:Zfp574'

264151

Institutional Source

Beutler Lab

Gene Symbol

Zfp574

Ensembl Gene

ENSMUSG00000045252

Gene Name

zinc finger protein 574

Synonyms

A630056B21Rik

MMRRC Submission

040596-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3123 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24775099-24782917 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24781026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 683 (A683S)

Ref Sequence

ENSEMBL: ENSMUSP00000136547 (fasta)

Gene Model

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

AlphaFold

Q8BY46

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053410
AA Change: A683S

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057817
Gene: ENSMUSG00000045252
AA Change: A683S

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

possibly damaging
Transcript: ENSMUST00000179556
AA Change: A683S

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136547
Gene: ENSMUSG00000045252
AA Change: A683S

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

0.0871

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak9	A	G	10: 41,234,576 (GRCm39)	I646V	possibly damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Caskin2	T	C	11: 115,695,623 (GRCm39)	D246G	probably damaging	Het
Csn1s2b	T	C	5: 87,966,917 (GRCm39)		probably benign	Het
Ctsa	T	A	2: 164,677,152 (GRCm39)		probably null	Het
Cyp2j8	G	A	4: 96,389,450 (GRCm39)		probably benign	Het
Dach2	T	C	X: 112,729,664 (GRCm39)	I417T	possibly damaging	Het
Dcaf8l	A	T	X: 88,448,327 (GRCm39)	Y601N	probably benign	Het
Dhx9	T	C	1: 153,341,452 (GRCm39)	K599E	possibly damaging	Het
Duox2	A	G	2: 122,111,554 (GRCm39)		probably benign	Het
F2rl3	T	C	8: 73,489,840 (GRCm39)	S356P	probably damaging	Het
Fem1b	T	C	9: 62,703,836 (GRCm39)	I475V	probably benign	Het
Glra3	A	G	8: 56,578,244 (GRCm39)	R434G	possibly damaging	Het
Gpr75	T	A	11: 30,841,709 (GRCm39)	S205T	possibly damaging	Het
Hsd17b12	C	T	2: 93,864,303 (GRCm39)	R268Q	probably benign	Het
Htt	T	C	5: 34,961,875 (GRCm39)	S287P	probably benign	Het
Ifi27l2b	T	C	12: 103,417,594 (GRCm39)	T198A	unknown	Het
Kdm5d	T	C	Y: 900,558 (GRCm39)	V201A	possibly damaging	Het
Khdrbs2	C	A	1: 32,558,858 (GRCm39)	R408L	probably damaging	Het
Lonp1	A	G	17: 56,933,488 (GRCm39)	I129T	possibly damaging	Het
Macc1	T	C	12: 119,411,368 (GRCm39)	F712S	probably damaging	Het
Mcpt8	A	T	14: 56,321,398 (GRCm39)	I22K	probably damaging	Het
Nop2	G	A	6: 125,109,164 (GRCm39)		probably benign	Het
Or10ag53	A	T	2: 87,083,135 (GRCm39)	T285S	possibly damaging	Het
Or2l13	A	G	16: 19,305,765 (GRCm39)	Y59C	probably damaging	Het
Or2y3	G	A	17: 38,392,903 (GRCm39)		probably null	Het
Pkd1l1	T	A	11: 8,923,021 (GRCm39)	D82V	unknown	Het
Polr2a	A	T	11: 69,626,536 (GRCm39)	S1566T	possibly damaging	Het
Ppwd1	C	T	13: 104,350,198 (GRCm39)	E396K	possibly damaging	Het
Prr30	A	G	14: 101,436,425 (GRCm39)	S46P	probably benign	Het
Pthlh	A	T	6: 147,164,789 (GRCm39)	V27E	probably damaging	Het
Ptpn4	A	G	1: 119,693,153 (GRCm39)		probably null	Het
Rad18	A	T	6: 112,658,307 (GRCm39)	D199E	probably benign	Het
Ralgps1	T	C	2: 33,048,968 (GRCm39)	T314A	possibly damaging	Het
Rbm27	A	G	18: 42,460,230 (GRCm39)	E764G	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Taf15	G	A	11: 83,395,154 (GRCm39)		probably null	Het
Tas2r140	T	A	6: 133,032,204 (GRCm39)	I185L	probably benign	Het
Tgfbr2	G	A	9: 115,939,137 (GRCm39)	T230M	possibly damaging	Het
Tnpo1	GCACCTCTGCTTCCTC	GCACCTCTGCTTCCTCACCTCTGCTTCCTC	13: 99,003,637 (GRCm39)		probably null	Het
Togaram1	G	T	12: 65,013,118 (GRCm39)	R123L	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trim9	C	T	12: 70,295,167 (GRCm39)	G648R	probably damaging	Het
Upf1	A	G	8: 70,790,133 (GRCm39)		probably benign	Het
Vmn2r109	C	T	17: 20,761,248 (GRCm39)	C703Y	probably damaging	Het
Zfp777	A	G	6: 48,006,050 (GRCm39)		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
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
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'- TCCACCAGCTTGTGATCCATG -3'
(R):5'- ATGGACCTGTAGTGACGTCTCTG -3'

Sequencing Primer
(F):5'- CTTGTGATCCATGCTGGGC -3'
(R):5'- GAAGAGCTTCTTGCACTCACTG -3'

Posted On

2015-02-05